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
SEC31B	25956	broad.mit.edu	37	10	102255201	102255201	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102255201C>A	uc001krc.1	-	c.2413G>T	c.(2413-2415)GCT>TCT	p.A805S	SEC31B_uc010qpo.1_Missense_Mutation_p.A804S|SEC31B_uc001krd.1_Missense_Mutation_p.A342S|SEC31B_uc001krf.1_Missense_Mutation_p.A342S|SEC31B_uc001kre.1_Missense_Mutation_p.A342S|SEC31B_uc001krg.1_Missense_Mutation_p.A374S	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	805				A -> V (in Ref. 2; CAB45735).	protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)										0.695652	44.469374	45.244256	16	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102255201	102255201	14485	10	C	A	A	A	364	28	SEC31B	2	2
ITPRIP	85450	broad.mit.edu	37	10	106075557	106075557	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106075557C>A	uc001kye.2	-	c.253G>T	c.(253-255)GCC>TCC	p.A85S	ITPRIP_uc001kyf.2_Missense_Mutation_p.A85S|ITPRIP_uc001kyg.2_Missense_Mutation_p.A85S	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	85						plasma membrane					0														0.766667	211.42588	217.248035	69	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106075557	106075557	8227	10	C	A	A	A	338	26	ITPRIP	2	2
SORCS1	114815	broad.mit.edu	37	10	108431096	108431096	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108431096C>A	uc001kyl.2	-	c.2088G>T	c.(2086-2088)AGG>AGT	p.R696S	SORCS1_uc001kym.2_Missense_Mutation_p.R696S|SORCS1_uc009xxs.2_Missense_Mutation_p.R696S|SORCS1_uc001kyn.1_Missense_Mutation_p.R696S|SORCS1_uc001kyo.2_Missense_Mutation_p.R696S	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	696	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.68	154.041888	156.200657	51	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108431096	108431096	15430	10	C	A	A	A	389	30	SORCS1	2	2
NRAP	4892	broad.mit.edu	37	10	115356858	115356858	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115356858A>G	uc001lal.3	-	c.4418T>C	c.(4417-4419)ATG>ACG	p.M1473T	NRAP_uc009xyb.2_Missense_Mutation_p.M262T|NRAP_uc001laj.2_Missense_Mutation_p.M1473T|NRAP_uc001lak.2_Missense_Mutation_p.M1438T	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1473	Nebulin 39.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)										0.784091	238.617832	245.170022	69	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115356858	115356858	11043	10	A	G	G	G	104	8	NRAP	4	4
PNLIP	5406	broad.mit.edu	37	10	118313238	118313238	+	Splice_Site_SNP	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118313238G>A	uc001lcm.2	+	c.460_splice	c.e6-1	p.S154_splice		NM_000936	NP_000927			pancreatic lipase precursor						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)									0.757576	87.186925	89.181116	25	8	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118313238	118313238	12575	10	G	A	A	A	468	36	PNLIP	5	2
HMX2	3167	broad.mit.edu	37	10	124909497	124909497	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124909497G>T	uc001lhc.1	+	c.680G>T	c.(679-681)AGC>ATC	p.S227I		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	H6 family homeobox 2	227					cell differentiation|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)										0.882353	48.938583	51.379701	15	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124909497	124909497	7539	10	G	T	T	T	442	34	HMX2	2	2
CHST15	51363	broad.mit.edu	37	10	125801930	125801930	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:125801930C>A	uc001lhl.2	-	c.920G>T	c.(919-921)CGC>CTC	p.R307L	CHST15_uc001lhm.2_Missense_Mutation_p.R307L|CHST15_uc001lhn.2_Missense_Mutation_p.R307L|CHST15_uc010que.1_Missense_Mutation_p.R307L|CHST15_uc001lho.2_Missense_Mutation_p.R307L	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	307	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1														0.625	101.160277	101.818786	30	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125801930	125801930	3537	10	C	A	A	A	351	27	CHST15	1	1
OPTN	10133	broad.mit.edu	37	10	13154609	13154609	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:13154609G>T	uc001ilu.1	+	c.526G>T	c.(526-528)GAT>TAT	p.D176Y	OPTN_uc001ilv.1_Missense_Mutation_p.D176Y|OPTN_uc001ilw.1_Missense_Mutation_p.D176Y|OPTN_uc001ilx.1_Missense_Mutation_p.D176Y|OPTN_uc001ily.1_Missense_Mutation_p.D176Y|OPTN_uc010qbr.1_Missense_Mutation_p.D119Y|OPTN_uc001ilz.1_Missense_Mutation_p.D176Y	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	176	Interaction with Rab8.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			ovary(2)	2														0.402516	169.431141	170.761423	64	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13154609	13154609	11295	10	G	T	T	T	429	33	OPTN	2	2
GPR123	84435	broad.mit.edu	37	10	134884455	134884455	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:134884455C>A	uc001llw.2	+	c.23C>A	c.(22-24)TCG>TAG	p.S8*		GPR123		Q86SQ6	GP123_HUMAN	RecName: Full=Probable G-protein coupled receptor 123;	Error:Variant_position_missing_in_Q86SQ6_after_alignment						integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)										0.857143	17.957803	18.811706	6	1	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	134884455	134884455	6911	10	C	A	A	A	391	31	GPR123	5	1
VENTX	27287	broad.mit.edu	37	10	135051554	135051554	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135051554C>A	uc010quy.1	+	c.136C>A	c.(136-138)CCT>ACT	p.P46T		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	46					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)										0.8	11.277054	11.679717	4	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135051554	135051554	17720	10	C	A	A	A	286	22	VENTX	2	2
NEBL	10529	broad.mit.edu	37	10	21074756	21074756	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21074756C>A	uc001iqi.2	-	c.2965G>T	c.(2965-2967)GAT>TAT	p.D989Y	NEBL_uc001iqj.2_Non-coding_Transcript|NEBL_uc001iqk.2_Missense_Mutation_p.D245Y	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	989	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2														0.367647	69.35632	70.403684	25	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21074756	21074756	10702	10	C	A	A	A	403	31	NEBL	1	1
WAC	51322	broad.mit.edu	37	10	28905206	28905206	+	Nonsense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:28905206C>G	uc001iuf.2	+	c.1661C>G	c.(1660-1662)TCA>TGA	p.S554*	WAC_uc001iud.2_Nonsense_Mutation_p.S509*|WAC_uc001iue.2_Nonsense_Mutation_p.S244*|WAC_uc001iug.2_Nonsense_Mutation_p.S451*|WAC_uc001iuh.2_Nonsense_Mutation_p.S505*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	554					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2														0.453846	212.114055	212.355059	59	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28905206	28905206	17819	10	C	G	G	G	377	29	WAC	5	3
ZEB1	6935	broad.mit.edu	37	10	31809520	31809520	+	Silent	SNP	G	T	T	rs35238902	byFrequency;by1000genomes	TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31809520G>T	uc001ivu.3	+	c.1260G>T	c.(1258-1260)GCG>GCT	p.A420A	ZEB1_uc001ivr.3_Silent_p.A201A|ZEB1_uc010qee.1_Silent_p.A201A|ZEB1_uc010qef.1_Silent_p.A201A|ZEB1_uc009xlj.1_Silent_p.A345A|ZEB1_uc010qeg.1_Silent_p.A278A|ZEB1_uc009xlk.1_Silent_p.A201A|ZEB1_uc001ivs.3_Silent_p.A419A|ZEB1_uc001ivt.3_Silent_p.A201A|ZEB1_uc001ivv.3_Silent_p.A399A|ZEB1_uc010qeh.1_Silent_p.A352A|ZEB1_uc009xlo.1_Silent_p.A402A|ZEB1_uc009xlp.2_Silent_p.A403A	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	419					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				Ovarian(40;423 959 14296 36701 49589)								0.466667	90.401288	90.458592	28	32	KEEP	---	---	---	---	capture		Silent	SNP	31809520	31809520	18211	10	G	T	T	T	496	39	ZEB1	1	1
CSGALNACT2	55454	broad.mit.edu	37	10	43650780	43650780	+	Silent	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43650780A>T	uc001jan.2	+	c.183A>T	c.(181-183)CTA>CTT	p.L61L	CSGALNACT2_uc001jam.1_Silent_p.L61L	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	61	Lumenal (Potential).|Potential.				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1														0.5	87.072795	87.072795	29	29	KEEP	---	---	---	---	capture		Silent	SNP	43650780	43650780	4080	10	A	T	T	T	171	14	CSGALNACT2	3	3
CXCL12	6387	broad.mit.edu	37	10	44874113	44874113	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:44874113G>A	uc001jbh.2	-	c.238C>T	c.(238-240)CAG>TAG	p.Q80*	CXCL12_uc001jbf.2_Nonsense_Mutation_p.Q80*|CXCL12_uc001jbi.2_Nonsense_Mutation_p.Q80*	NM_001033886	NP_001029058	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12 (stromal	80					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity				0					Dexamethasone(DB01234)					379				0.158621	36.927352	53.044001	23	122	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	44874113	44874113	4240	10	G	A	A	A	585	45	CXCL12	5	2
FAM21C	253725	broad.mit.edu	37	10	46248088	46248088	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:46248088G>C	uc001jcu.2	+	c.1056G>C	c.(1054-1056)TCG>TCC	p.S352S	FAM21C_uc001jcs.1_Silent_p.S297S|FAM21C_uc001jct.2_Silent_p.S352S|FAM21C_uc010qfi.1_Silent_p.S328S|FAM21C_uc010qfj.1_5'Flank	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	hypothetical protein LOC253725	352										ovary(1)	1														0.391111	293.017278	295.362251	88	137	KEEP	---	---	---	---	capture		Silent	SNP	46248088	46248088	5757	10	G	C	C	C	483	38	FAM21C	3	3
ZNF488	118738	broad.mit.edu	37	10	48371464	48371464	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48371464A>C	uc001jex.2	+	c.932A>C	c.(931-933)AAG>ACG	p.K311T	ZNF488_uc001jey.2_Missense_Mutation_p.K204T	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	zinc finger protein 488	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.380117	205.533156	207.687414	65	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48371464	48371464	18534	10	A	C	C	C	39	3	ZNF488	4	4
PTPN20B	26095	broad.mit.edu	37	10	48771317	48771317	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48771317G>C	uc001jff.1	-	c.581C>G	c.(580-582)CCA>CGA	p.P194R	PTPN20B_uc001jfc.1_Missense_Mutation_p.P166R|PTPN20B_uc001jfd.1_Intron|PTPN20B_uc001jfe.1_Intron|PTPN20B_uc001jfg.1_Missense_Mutation_p.P185R|PTPN20B_uc001jfh.1_Intron|PTPN20B_uc001jfi.1_Missense_Mutation_p.P166R|PTPN20B_uc001jfj.1_Missense_Mutation_p.P113R|PTPN20B_uc001jfk.1_Missense_Mutation_p.P194R|PTPN20B_uc001jfl.1_Missense_Mutation_p.P113R|PTPN20B_uc009xnr.1_Intron|PTPN20B_uc001jfm.1_Intron|PTPN20B_uc009xns.1_Intron|PTPN20B_uc001jfn.1_Intron|PTPN20B_uc001jfo.1_Intron|PTPN20B_uc001jfp.1_Missense_Mutation_p.P185R|PTPN20B_uc001jfq.1_Intron|PTPN20B_uc001jfr.1_Intron|PTPN20B_uc001jfs.1_Missense_Mutation_p.P113R|PTPN20B_uc001jfu.1_Missense_Mutation_p.P113R|PTPN20B_uc001jft.1_Intron|PTPN20B_uc001jfv.1_Missense_Mutation_p.P113R|PTPN20A_uc001jfw.1_Missense_Mutation_p.P194R|PTPN20B_uc001jfx.1_Intron	NM_001042389	NP_001035848	Q4JDL3	PTN20_HUMAN	protein tyrosine phosphatase, non-receptor type	194	Tyrosine-protein phosphatase.					microtubule|microtubule organizing center|nucleus	protein tyrosine phosphatase activity				0				Kidney(211;0.201)		Esophageal Squamous(163;2397 2588 11533 14526)								0.75	23.454247	23.908708	6	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48771317	48771317	13242	10	G	C	C	C	611	47	PTPN20B	3	3
ERCC6	2074	broad.mit.edu	37	10	50690785	50690785	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50690785T>A	uc001jhs.3	-	c.2117A>T	c.(2116-2118)CAG>CTG	p.Q706L	ERCC6_uc010qgr.1_Missense_Mutation_p.Q76L|ERCC6_uc001jhr.3_Missense_Mutation_p.Q106L	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	706					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding|transcription elongation regulator activity			breast(5)|ovary(2)|large_intestine(2)|lung(1)	10										738				0.346667	76.926052	78.483354	26	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50690785	50690785	5410	10	T	A	A	A	715	55	ERCC6	3	3
CHAT	1103	broad.mit.edu	37	10	50857656	50857656	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50857656A>T	uc001jhz.2	+	c.1485A>T	c.(1483-1485)TTA>TTT	p.L495F	CHAT_uc001jhv.1_Missense_Mutation_p.L377F|CHAT_uc001jhx.1_Missense_Mutation_p.L377F|CHAT_uc001jhy.1_Missense_Mutation_p.L377F|CHAT_uc001jia.2_Missense_Mutation_p.L377F|CHAT_uc010qgs.1_Missense_Mutation_p.L377F	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	495					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)									0.33913	109.897433	112.52495	39	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50857656	50857656	3447	10	A	T	T	T	193	15	CHAT	3	3
ZWINT	11130	broad.mit.edu	37	10	58120979	58120979	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:58120979C>T	uc001jjx.1	-	c.19G>A	c.(19-21)GAG>AAG	p.E7K	ZWINT_uc001jjy.1_Missense_Mutation_p.E7K|ZWINT_uc001jka.1_Missense_Mutation_p.E7K|ZWINT_uc009xoy.1_Non-coding_Transcript	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	7					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0														0.6	19.451609	19.538968	6	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58120979	58120979	18854	10	C	T	T	T	416	32	ZWINT	2	2
ANK3	288	broad.mit.edu	37	10	62023774	62023774	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:62023774C>G	uc001jky.2	-	c.518G>C	c.(517-519)GGC>GCC	p.G173A	ANK3_uc010qih.1_Missense_Mutation_p.G156A|ANK3_uc001jkz.3_Missense_Mutation_p.G167A|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	173	ANK 4.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.736842	47.700192	48.73457	14	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62023774	62023774	625	10	C	G	G	G	338	26	ANK3	3	3
JMJD1C	221037	broad.mit.edu	37	10	64968029	64968029	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64968029G>T	uc001jmn.2	-	c.3400C>A	c.(3400-3402)CAA>AAA	p.Q1134K	JMJD1C_uc001jml.2_Missense_Mutation_p.Q915K|JMJD1C_uc001jmm.2_Missense_Mutation_p.Q846K|JMJD1C_uc010qiq.1_Missense_Mutation_p.Q952K|JMJD1C_uc009xpi.2_Missense_Mutation_p.Q952K|JMJD1C_uc009xpj.1_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.Q171K	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1134					blood coagulation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.732283	293.711157	299.89368	93	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64968029	64968029	8254	10	G	T	T	T	585	45	JMJD1C	2	2
HERC4	26091	broad.mit.edu	37	10	69793920	69793920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:69793920G>A	uc001jng.3	-	c.487C>T	c.(487-489)CAG>TAG	p.Q163*	HERC4_uc001jnf.3_Non-coding_Transcript|HERC4_uc001jnh.3_Nonsense_Mutation_p.Q163*|HERC4_uc009xpr.2_Nonsense_Mutation_p.Q163*|HERC4_uc001jni.3_5'UTR|HERC4_uc001jnj.2_Nonsense_Mutation_p.Q163*	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	163	RCC1 4.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3														0.328358	59.62331	61.375456	22	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	69793920	69793920	7343	10	G	A	A	A	624	48	HERC4	5	2
ANKRD1	27063	broad.mit.edu	37	10	92675309	92675309	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:92675309G>C	uc001khe.1	-	c.840C>G	c.(838-840)ATC>ATG	p.I280M		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	cardiac ankyrin repeat protein	280	ANK 4.				cellular lipid metabolic process|defense response|signal transduction		DNA binding				0		Colorectal(252;0.0475)												0.133333	7.577851	11.49307	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92675309	92675309	640	10	G	C	C	C	577	45	ANKRD1	3	3
RRP12	23223	broad.mit.edu	37	10	99126871	99126871	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99126871G>C	uc001knf.2	-	c.2974C>G	c.(2974-2976)CTT>GTT	p.L992V	RRP12_uc001kne.2_Missense_Mutation_p.L7V|RRP12_uc009xvl.2_Missense_Mutation_p.L109V|RRP12_uc009xvm.2_Missense_Mutation_p.L710V|RRP12_uc010qou.1_Missense_Mutation_p.L931V|RRP12_uc009xvn.2_Missense_Mutation_p.L892V	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	992						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)										0.745455	157.802818	160.809303	41	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99126871	99126871	14166	10	G	C	C	C	442	34	RRP12	3	3
BIRC3	330	broad.mit.edu	37	11	102206810	102206810	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102206810G>A	uc001pgx.2	+	c.1438G>A	c.(1438-1440)GAT>AAT	p.D480N		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	480	CARD.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)						113				0.480447	247.2195	247.280013	86	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102206810	102206810	1461	11	G	A	A	A	585	45	BIRC3	2	2
MMP1	4312	broad.mit.edu	37	11	102667841	102667841	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102667841C>G	uc001phi.2	-	c.403G>C	c.(403-405)GAG>CAG	p.E135Q	MMP1_uc010ruv.1_Missense_Mutation_p.E69Q	NM_002421	NP_002412	P03956	MMP1_HUMAN	matrix metalloproteinase 1 isoform 1	135	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)						227				0.417143	265.447926	266.496408	73	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102667841	102667841	10038	11	C	G	G	G	377	29	MMP1	3	3
ARHGAP20	57569	broad.mit.edu	37	11	110454334	110454334	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:110454334G>C	uc001pkz.1	-	c.1543C>G	c.(1543-1545)CCA>GCA	p.P515A	ARHGAP20_uc001pky.1_Missense_Mutation_p.P492A|ARHGAP20_uc009yyb.1_Missense_Mutation_p.P479A|ARHGAP20_uc001pla.1_Missense_Mutation_p.P479A|ARHGAP20_uc001plb.2_Missense_Mutation_p.P58A	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	515	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)										0.135135	10.047939	14.822359	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110454334	110454334	881	11	G	C	C	C	533	41	ARHGAP20	3	3
CADM1	23705	broad.mit.edu	37	11	115069138	115069138	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:115069138G>C	uc001ppj.3	-	c.1015C>G	c.(1015-1017)CCA>GCA	p.P339A	CADM1_uc001ppf.3_Intron|CADM1_uc001ppi.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001pph.3_Missense_Mutation_p.P119A	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	339	Extracellular (Potential).			PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)										0.1875	8.71729	10.1787	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115069138	115069138	2682	11	G	C	C	C	560	44	CADM1	3	3
UBE4A	9354	broad.mit.edu	37	11	118243384	118243384	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118243384G>T	uc001psv.2	+	c.724G>T	c.(724-726)GAG>TAG	p.E242*	UBE4A_uc001psw.2_Intron	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	240					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|breast(1)|kidney(1)	4	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)										0.5	187.614396	187.614396	63	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	118243384	118243384	17440	11	G	T	T	T	585	45	UBE4A	5	2
PHLDB1	23187	broad.mit.edu	37	11	118509945	118509945	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118509945G>A	uc001ptr.1	+	c.2712G>A	c.(2710-2712)CCG>CCA	p.P904P	PHLDB1_uc001pts.2_Silent_p.P904P|PHLDB1_uc001ptt.2_Silent_p.P904P|PHLDB1_uc001ptu.1_Non-coding_Transcript|PHLDB1_uc001ptv.1_Silent_p.P704P|PHLDB1_uc001ptw.1_Silent_p.P306P|PHLDB1_uc009zai.1_5'UTR|PHLDB1_uc001ptx.1_5'UTR|PHLDB1_uc010ryi.1_5'Flank|PHLDB1_uc010ryj.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	904											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)										0.45977	119.988265	120.111172	40	47	KEEP	---	---	---	---	capture		Silent	SNP	118509945	118509945	12275	11	G	A	A	A	470	37	PHLDB1	1	1
BCL9L	283149	broad.mit.edu	37	11	118772871	118772871	+	Nonsense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118772871G>C	uc001pug.2	-	c.1581C>G	c.(1579-1581)TAC>TAG	p.Y527*	BCL9L_uc009zal.2_Nonsense_Mutation_p.Y522*	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	527	Necessary for interaction with CTNNB1 (By similarity).				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)										0.372881	144.886594	146.554849	44	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	118772871	118772871	1403	11	G	C	C	C	464	36	BCL9L	5	3
CBL	867	broad.mit.edu	37	11	119144584	119144584	+	Silent	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119144584A>T	uc001pwe.2	+	c.597A>T	c.(595-597)ATA>ATT	p.I199I		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	199	Cbl-PTB.|EF-hand-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(133)|lung(9)|central_nervous_system(2)|ovary(1)	145		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)						309				0.3	48.529297	50.672051	18	42	KEEP	---	---	---	---	capture		Silent	SNP	119144584	119144584	2819	11	A	T	T	T	189	15	CBL	3	3
ARHGEF12	23365	broad.mit.edu	37	11	120300499	120300499	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120300499C>A	uc001pxl.1	+	c.742C>A	c.(742-744)CAG>AAG	p.Q248K	ARHGEF12_uc009zat.2_Missense_Mutation_p.Q229K|ARHGEF12_uc010rzn.1_Missense_Mutation_p.Q145K|ARHGEF12_uc009zau.1_Missense_Mutation_p.Q145K	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	248	Potential.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)						1000				0.306452	50.395058	52.470239	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120300499	120300499	911	11	C	A	A	A	377	29	ARHGEF12	2	2
ZNF202	7753	broad.mit.edu	37	11	123598298	123598298	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123598298G>A	uc001pzd.1	-	c.838C>T	c.(838-840)CCA>TCA	p.P280S	ZNF202_uc001pzc.1_Missense_Mutation_p.P56S|ZNF202_uc001pze.1_Missense_Mutation_p.P280S|ZNF202_uc001pzf.1_Missense_Mutation_p.P280S	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	280	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)										0.177215	27.796105	35.556963	14	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123598298	123598298	18354	11	G	A	A	A	533	41	ZNF202	2	2
MICALCL	84953	broad.mit.edu	37	11	12376383	12376383	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:12376383A>G	uc001mkg.1	+	c.1882A>G	c.(1882-1884)AGA>GGA	p.R628G		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	628	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding				0				Epithelial(150;0.00177)										0.297297	36.611542	37.970102	11	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12376383	12376383	9962	11	A	G	G	G	140	11	MICALCL	4	4
OR10S1	219873	broad.mit.edu	37	11	123847636	123847636	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123847636A>T	uc001pzm.1	-	c.763T>A	c.(763-765)TGC>AGC	p.C255S		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)										0.394231	115.830335	116.853139	41	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123847636	123847636	11324	11	A	T	T	T	91	7	OR10S1	3	3
ROBO3	64221	broad.mit.edu	37	11	124740583	124740583	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124740583G>T	uc001qbc.2	+	c.992G>T	c.(991-993)AGT>ATT	p.S331I		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	331	Ig-like C2-type 3.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)										0.5	33.022771	33.022771	11	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124740583	124740583	13994	11	G	T	T	T	468	36	ROBO3	2	2
KCNJ5	3762	broad.mit.edu	37	11	128786320	128786320	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128786320C>A	uc001qet.2	+	c.954C>A	c.(952-954)GCC>GCA	p.A318A	KCNJ5_uc009zck.2_Silent_p.A318A|KCNJ5_uc001qew.2_Silent_p.A318A	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	318	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding				0	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)								0.575472	195.584974	196.110344	61	45	KEEP	---	---	---	---	capture		Silent	SNP	128786320	128786320	8359	11	C	A	A	A	275	22	KCNJ5	2	2
INSC	387755	broad.mit.edu	37	11	15134045	15134045	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15134045G>T	uc001mly.2	+	c.30G>T	c.(28-30)GCG>GCT	p.A10A	INSC_uc001mlz.2_5'Flank	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	10					cell differentiation|nervous system development	cytoplasm	binding			ovary(2)|central_nervous_system(1)	3														0.28	37.330131	39.50508	14	36	KEEP	---	---	---	---	capture		Silent	SNP	15134045	15134045	8065	11	G	T	T	T	496	39	INSC	1	1
INSC	387755	broad.mit.edu	37	11	15197587	15197587	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15197587C>T	uc001mly.2	+	c.498C>T	c.(496-498)AGC>AGT	p.S166S	INSC_uc001mlz.2_Silent_p.S119S|INSC_uc001mma.2_Silent_p.S119S|INSC_uc010rcs.1_Silent_p.S119S|INSC_uc001mmb.2_Silent_p.S119S|INSC_uc001mmc.2_Silent_p.S119S	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	166					cell differentiation|nervous system development	cytoplasm	binding			ovary(2)|central_nervous_system(1)	3														0.7	22.328185	22.685421	7	3	KEEP	---	---	---	---	capture		Silent	SNP	15197587	15197587	8065	11	C	T	T	T	350	27	INSC	1	1
ABCC8	6833	broad.mit.edu	37	11	17491753	17491753	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17491753G>A	uc001mnc.2	-	c.307C>T	c.(307-309)CAT>TAT	p.H103Y	ABCC8_uc010rcy.1_Missense_Mutation_p.H103Y	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	103	Helical; Name=3; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)									0.188679	21.516277	26.325504	10	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17491753	17491753	59	11	G	A	A	A	611	47	ABCC8	2	2
CTSD	1509	broad.mit.edu	37	11	1774740	1774740	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1774740C>T	uc001luc.1	-	c.1232G>A	c.(1231-1233)CGC>CAC	p.R411H	CTSD_uc009yda.1_Non-coding_Transcript	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	411					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.465753	92.712143	92.788837	34	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1774740	1774740	4191	11	C	T	T	T	351	27	CTSD	1	1
TPH1	7166	broad.mit.edu	37	11	18057531	18057531	+	Silent	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18057531T>G	uc001mnp.2	-	c.276A>C	c.(274-276)CCA>CCC	p.P92P	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	92	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|oxidation-reduction process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)					206				0.479167	73.721888	73.740056	23	25	KEEP	---	---	---	---	capture		Silent	SNP	18057531	18057531	16945	11	T	G	G	G	704	55	TPH1	4	4
TSG101	7251	broad.mit.edu	37	11	18541090	18541090	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18541090G>C	uc001mor.2	-	c.103C>G	c.(103-105)CTC>GTC	p.L35V	TSG101_uc001mos.1_Intron|TSG101_uc009yhs.1_Intron	NM_006292	NP_006283	Q99816	TS101_HUMAN	tumor susceptibility gene 101	35	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0						GBM(99;1348 1396 8611 26475 50572)								0.366337	127.848131	129.435096	37	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18541090	18541090	17167	11	G	C	C	C	429	33	TSG101	3	3
TNNI2	7136	broad.mit.edu	37	11	1861882	1861882	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1861882T>A	uc010qxe.1	+	c.182T>A	c.(181-183)GTG>GAG	p.V61E	TNNI2_uc010qxc.1_Missense_Mutation_p.V59E|TNNI2_uc010qxd.1_Missense_Mutation_p.V59E	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	61					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.371429	34.565274	35.073675	13	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1861882	1861882	16868	11	T	A	A	A	767	59	TNNI2	3	3
ANO3	63982	broad.mit.edu	37	11	26463463	26463463	+	Splice_Site_SNP	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26463463A>C	uc001mqt.3	+	c.47_splice	c.e2-2	p.G16_splice	ANO3_uc010rdr.1_Splice_Site_SNP	NM_031418	NP_113606			transmembrane protein 16C							chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.430556	212.029315	212.634636	62	82	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	26463463	26463463	706	11	A	C	C	C	91	7	ANO3	5	4
BBOX1	8424	broad.mit.edu	37	11	27078769	27078769	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:27078769G>A	uc001mre.1	+	c.241G>A	c.(241-243)GAG>AAG	p.E81K	BBOX1_uc009yih.1_Missense_Mutation_p.E81K|BBOX1_uc001mrg.1_Missense_Mutation_p.E81K	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	81					carnitine biosynthetic process|oxidation-reduction process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)									0.1	6.399091	25.597798	12	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27078769	27078769	1355	11	G	A	A	A	585	45	BBOX1	2	2
KCNA4	3739	broad.mit.edu	37	11	30034042	30034042	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30034042G>T	uc001msk.2	-	c.184C>A	c.(184-186)CAC>AAC	p.H62N		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	62	Poly-His.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.45283	63.181366	63.285206	24	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30034042	30034042	8310	11	G	T	T	T	611	47	KCNA4	2	2
PAX6	5080	broad.mit.edu	37	11	31811521	31811521	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31811521A>G	uc001mtg.3	-	c.1272T>C	c.(1270-1272)AGT>AGC	p.S424S	PAX6_uc001mtd.3_Silent_p.S410S|PAX6_uc001mte.3_Silent_p.S410S|PAX6_uc001mtf.3_Silent_p.S410S|PAX6_uc001mth.3_Silent_p.S410S|PAX6_uc009yjr.2_Silent_p.S410S	NM_001604	NP_001595	P26367	PAX6_HUMAN	paired box gene 6 isoform b	410	Pro/Ser/Thr-rich.				central nervous system development|eye development|gene-specific transcription from RNA polymerase II promoter|negative regulation of neurogenesis|neuron fate commitment|organ morphogenesis|pancreatic A cell development|positive regulation of gene expression|regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription activator activity|ubiquitin-protein ligase activity			ovary(2)|pancreas(1)	3	Lung SC(675;0.225)													0.38806	81.736554	82.471587	26	41	KEEP	---	---	---	---	capture		Silent	SNP	31811521	31811521	11903	11	A	G	G	G	76	6	PAX6	4	4
CD44	960	broad.mit.edu	37	11	35211479	35211479	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:35211479G>A	uc001mvu.2	+	c.534G>A	c.(532-534)GTG>GTA	p.V178V	CD44_uc001mvv.2_Silent_p.V178V|CD44_uc001mvw.2_Silent_p.V178V|CD44_uc001mvx.2_Silent_p.V178V|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Silent_p.V178V|CD44_uc010rer.1_Silent_p.V178V|CD44_uc009ykh.2_Non-coding_Transcript|CD44_uc010res.1_5'UTR|CD44_uc010ret.1_Non-coding_Transcript|CD44_uc010reu.1_5'UTR	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	178	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)					401				0.485714	49.971329	49.977621	17	18	KEEP	---	---	---	---	capture		Silent	SNP	35211479	35211479	3145	11	G	A	A	A	574	45	CD44	2	2
RAG1	5896	broad.mit.edu	37	11	36595976	36595976	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36595976C>G	uc001mwu.3	+	c.1122C>G	c.(1120-1122)CAC>CAG	p.H374Q	RAG1_uc001mwt.2_Non-coding_Transcript	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	374	RAG1-type.				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)			p.H374Q(PATU8902-Tumor)	117				0.43956	141.789403	142.078947	40	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36595976	36595976	13463	11	C	G	G	G	233	18	RAG1	3	3
PRDM11	56981	broad.mit.edu	37	11	45245962	45245962	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45245962C>G	uc001myo.2	+	c.1039C>G	c.(1039-1041)CTG>GTG	p.L347V		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	347											0						NSCLC(118;1511 1736 6472 36603 43224)								0.434109	399.268053	400.244066	112	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45245962	45245962	12894	11	C	G	G	G	259	20	PRDM11	3	3
CHST1	8534	broad.mit.edu	37	11	45672310	45672310	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45672310T>C	uc001mys.1	-	c.164A>G	c.(163-165)TAC>TGC	p.Y55C		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	55	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			pancreas(1)	1				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)										0.477273	148.153041	148.191902	42	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45672310	45672310	3531	11	T	C	C	C	741	57	CHST1	4	4
LRP4	4038	broad.mit.edu	37	11	46896534	46896534	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:46896534T>C	uc001ndn.3	-	c.4046A>G	c.(4045-4047)GAT>GGT	p.D1349G		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1349	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			ovary(1)	1				Lung(87;0.159)										0.333333	82.14116	84.163337	27	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46896534	46896534	9332	11	T	C	C	C	650	50	LRP4	4	4
MADD	8567	broad.mit.edu	37	11	47330834	47330834	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47330834A>C	uc001ner.1	+	c.3934A>C	c.(3934-3936)AAA>CAA	p.K1312Q	MADD_uc001neq.2_Missense_Mutation_p.K1253Q|MADD_uc001nev.1_Missense_Mutation_p.K1210Q|MADD_uc001nes.1_Missense_Mutation_p.K1230Q|MADD_uc001net.1_Missense_Mutation_p.K1273Q|MADD_uc009yln.1_Missense_Mutation_p.K1206Q|MADD_uc001neu.1_Missense_Mutation_p.K1210Q|MADD_uc001nex.2_Missense_Mutation_p.K1312Q|MADD_uc001nez.2_Missense_Mutation_p.K1209Q|MADD_uc001new.2_Missense_Mutation_p.K1252Q|MADD_uc009ylo.2_Missense_Mutation_p.K226Q	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1312					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(3)|central_nervous_system(2)	10				Lung(87;0.182)						5				0.414894	276.526088	277.712575	78	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47330834	47330834	9529	11	A	C	C	C	65	5	MADD	4	4
FOLH1	2346	broad.mit.edu	37	11	49227674	49227674	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49227674T>A	uc001ngy.2	-	c.169A>T	c.(169-171)AAT>TAT	p.N57Y	FOLH1_uc001ngz.2_Missense_Mutation_p.N57Y|FOLH1_uc009yly.2_Missense_Mutation_p.N42Y|FOLH1_uc009ylz.2_Missense_Mutation_p.N42Y|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_Missense_Mutation_p.N42Y	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	57	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)	1					Capromab(DB00089)|L-Glutamic Acid(DB00142)									0.448276	39.272265	39.33966	13	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49227674	49227674	6221	11	T	A	A	A	793	61	FOLH1	3	3
OR51V1	283111	broad.mit.edu	37	11	5221647	5221647	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5221647C>A	uc010qyz.1	-	c.284G>T	c.(283-285)TGG>TTG	p.W95L		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	95	Extracellular (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)										0.5	90.872657	90.872657	29	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5221647	5221647	11517	11	C	A	A	A	273	21	OR51V1	2	2
OR5L1	219437	broad.mit.edu	37	11	55579396	55579396	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579396G>A	uc001nhw.1	+	c.454G>A	c.(454-456)GGG>AGG	p.G152R		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.369565	141.786167	143.850182	51	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55579396	55579396	11580	11	G	A	A	A	611	47	OR5L1	2	2
OR10AG1	282770	broad.mit.edu	37	11	55735206	55735206	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55735206G>T	uc010rit.1	-	c.734C>A	c.(733-735)GCA>GAA	p.A245E		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.0137)													0.575758	58.326839	58.491466	19	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55735206	55735206	11303	11	G	T	T	T	598	46	OR10AG1	2	2
OR5M11	219487	broad.mit.edu	37	11	56310201	56310201	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56310201C>G	uc010rjl.1	-	c.533G>C	c.(532-534)TGT>TCT	p.C178S		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.52381	40.226366	40.236713	11	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56310201	56310201	11584	11	C	G	G	G	221	17	OR5M11	3	3
P2RX3	5024	broad.mit.edu	37	11	57114659	57114659	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57114659G>T	uc001nju.2	+	c.325G>T	c.(325-327)GAG>TAG	p.E109*		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	109	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0														0.5	26.373306	26.373306	9	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57114659	57114659	11754	11	G	T	T	T	429	33	P2RX3	5	2
CTNND1	1500	broad.mit.edu	37	11	57569422	57569422	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57569422C>T	uc001nmc.3	+	c.1174C>T	c.(1174-1176)CAC>TAC	p.H392Y	CTNND1_uc001nlh.1_Missense_Mutation_p.H392Y|CTNND1_uc001nlu.3_Missense_Mutation_p.H291Y|CTNND1_uc001nlt.3_Missense_Mutation_p.H291Y|CTNND1_uc001nls.3_Missense_Mutation_p.H291Y|CTNND1_uc001nlw.3_Missense_Mutation_p.H291Y|CTNND1_uc001nmf.3_Missense_Mutation_p.H392Y|CTNND1_uc001nmd.3_Missense_Mutation_p.H338Y|CTNND1_uc001nlk.3_Missense_Mutation_p.H338Y|CTNND1_uc001nme.3_Missense_Mutation_p.H392Y|CTNND1_uc001nll.3_Missense_Mutation_p.H338Y|CTNND1_uc001nmg.3_Missense_Mutation_p.H338Y|CTNND1_uc001nlj.3_Missense_Mutation_p.H338Y|CTNND1_uc001nlr.3_Missense_Mutation_p.H338Y|CTNND1_uc001nlp.3_Missense_Mutation_p.H338Y|CTNND1_uc001nlx.3_Missense_Mutation_p.H69Y|CTNND1_uc001nlz.3_Missense_Mutation_p.H69Y|CTNND1_uc009ymn.2_Missense_Mutation_p.H69Y|CTNND1_uc001nlm.3_Missense_Mutation_p.H392Y|CTNND1_uc001nly.3_Missense_Mutation_p.H69Y|CTNND1_uc001nmb.3_Missense_Mutation_p.H69Y|CTNND1_uc001nma.3_Missense_Mutation_p.H69Y|CTNND1_uc001nmi.3_Missense_Mutation_p.H291Y|CTNND1_uc001nmh.3_Missense_Mutation_p.H392Y|CTNND1_uc001nlq.3_Missense_Mutation_p.H291Y|CTNND1_uc001nln.3_Missense_Mutation_p.H392Y|CTNND1_uc001nli.3_Missense_Mutation_p.H392Y|CTNND1_uc001nlo.3_Missense_Mutation_p.H291Y|CTNND1_uc001nlv.3_Missense_Mutation_p.H291Y	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	392	ARM 1.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)												0.410448	152.990143	153.931325	55	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57569422	57569422	4178	11	C	T	T	T	221	17	CTNND1	2	2
OR52N5	390075	broad.mit.edu	37	11	5799839	5799839	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5799839C>T	uc010qzn.1	-	c.26G>A	c.(25-27)TGG>TAG	p.W9*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)										0.313953	70.587676	73.240125	27	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5799839	5799839	11540	11	C	T	T	T	273	21	OR52N5	5	2
OR5B21	219968	broad.mit.edu	37	11	58275014	58275014	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58275014C>G	uc010rki.1	-	c.565G>C	c.(565-567)GAC>CAC	p.D189H		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.229167	33.700788	36.928333	11	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58275014	58275014	11561	11	C	G	G	G	377	29	OR5B21	3	3
OR52E4	390081	broad.mit.edu	37	11	5905755	5905755	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5905755C>T	uc010qzs.1	+	c.233C>T	c.(232-234)TCC>TTC	p.S78F	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	78	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.470588	147.090033	147.167002	48	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5905755	5905755	11526	11	C	T	T	T	390	30	OR52E4	2	2
OR5A2	219981	broad.mit.edu	37	11	59190327	59190327	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59190327C>G	uc010rkt.1	-	c.100G>C	c.(100-102)GGG>CGG	p.G34R		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.472222	157.116301	157.188802	51	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59190327	59190327	11550	11	C	G	G	G	286	22	OR5A2	3	3
OR4D9	390199	broad.mit.edu	37	11	59283042	59283042	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59283042G>T	uc010rkv.1	+	c.657G>T	c.(655-657)ACG>ACT	p.T219T		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.350746	287.977204	293.240541	94	174	KEEP	---	---	---	---	capture		Silent	SNP	59283042	59283042	11466	11	G	T	T	T	496	39	OR4D9	1	1
MS4A15	219995	broad.mit.edu	37	11	60543111	60543111	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60543111G>T	uc009ynf.1	+	c.646G>T	c.(646-648)GAC>TAC	p.D216Y	MS4A15_uc001npx.2_Missense_Mutation_p.D123Y|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Missense_Mutation_p.D175Y	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member	216						integral to membrane	receptor activity			lung(1)	1												OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.388462	278.596335	281.435963	101	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60543111	60543111	10252	11	G	T	T	T	429	33	MS4A15	2	2
SUV420H1	51111	broad.mit.edu	37	11	67938611	67938611	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67938611G>A	uc001onm.1	-	c.848C>T	c.(847-849)TCA>TTA	p.S283L	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.S111L|SUV420H1_uc009ysf.2_Missense_Mutation_p.S43L|SUV420H1_uc001ono.1_Missense_Mutation_p.S283L|SUV420H1_uc001onp.2_Missense_Mutation_p.S283L|SUV420H1_uc010rqa.1_Missense_Mutation_p.S260L|SUV420H1_uc001onq.2_Missense_Mutation_p.S283L	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	283	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3														0.513514	115.846434	115.857994	38	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67938611	67938611	15934	11	G	A	A	A	585	45	SUV420H1	2	2
OR10A5	144124	broad.mit.edu	37	11	6867641	6867641	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6867641C>A	uc001met.1	+	c.728C>A	c.(727-729)TCC>TAC	p.S243Y		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		Pancreas(44;21 1072 25662 28041 45559)								0.367213	292.982089	297.724355	112	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6867641	6867641	11299	11	C	A	A	A	390	30	OR10A5	2	2
ZNF215	7762	broad.mit.edu	37	11	6977119	6977119	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6977119G>T	uc001mey.2	+	c.911G>T	c.(910-912)AGT>ATT	p.S304I	ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.S66I|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	304					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)										0.353448	123.439445	125.636681	41	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6977119	6977119	18362	11	G	T	T	T	468	36	ZNF215	2	2
NLRP14	338323	broad.mit.edu	37	11	7091678	7091678	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7091678A>T	uc001mfb.1	+	c.3137A>T	c.(3136-3138)CAA>CTA	p.Q1046L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1046					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)										0.416667	103.111297	103.619986	35	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7091678	7091678	10879	11	A	T	T	T	65	5	NLRP14	3	3
MOGAT2	80168	broad.mit.edu	37	11	75428947	75428947	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:75428947C>T	uc010rru.1	+	c.14C>T	c.(13-15)GCG>GTG	p.A5V	MOGAT2_uc001oww.1_Missense_Mutation_p.A5V|MOGAT2_uc010rrv.1_5'Flank	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	5					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)													0.128205	6.346963	11.60175	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75428947	75428947	10086	11	C	T	T	T	351	27	MOGAT2	1	1
ACER3	55331	broad.mit.edu	37	11	76709817	76709817	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76709817G>C	uc009yum.1	+	c.449G>C	c.(448-450)GGA>GCA	p.G150A	ACER3_uc010rsg.1_Missense_Mutation_p.G108A|ACER3_uc009yul.1_Non-coding_Transcript|ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yun.1_Missense_Mutation_p.G108A|ACER3_uc009yuo.1_Missense_Mutation_p.G55A|ACER3_uc010rsh.1_Missense_Mutation_p.G113A|ACER3_uc010rsi.1_Missense_Mutation_p.G55A|ACER3_uc010rsj.1_Missense_Mutation_p.G55A	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	phytoceramidase, alkaline	150	Helical; (Potential).				ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity				0														0.346939	59.061691	60.074447	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76709817	76709817	141	11	G	C	C	C	533	41	ACER3	3	3
OR10A6	390093	broad.mit.edu	37	11	7949817	7949817	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7949817G>A	uc010rbh.1	-	c.393C>T	c.(391-393)AAC>AAT	p.N131N		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.447917	138.716102	138.942332	43	53	KEEP	---	---	---	---	capture		Silent	SNP	7949817	7949817	11300	11	G	A	A	A	464	36	OR10A6	2	2
TUB	7275	broad.mit.edu	37	11	8122429	8122429	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:8122429G>A	uc001mfy.2	+	c.1437G>A	c.(1435-1437)GAG>GAA	p.E479E	TUB_uc010rbk.1_Silent_p.E430E|TUB_uc001mga.2_Silent_p.E424E	NM_003320	NP_003311	P50607	TUB_HUMAN	tubby isoform a	424					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				ovary(1)	1		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)										0.435115	172.451272	172.932987	57	74	KEEP	---	---	---	---	capture		Silent	SNP	8122429	8122429	17297	11	G	A	A	A	438	34	TUB	2	2
TRIM49	57093	broad.mit.edu	37	11	89537464	89537465	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89537464_89537465TG>AT	uc001pdb.2	-	c.173_174CA>AT	c.(172-174)TCA>TAT	p.S58Y		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	ring finger protein 18	58						intracellular	zinc ion binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.30137	107.596183	112.772197	44	102	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	89537464	89537465	17069	11	TG	AT	AT	AT	808	63	TRIM49	3	3
FAT3	120114	broad.mit.edu	37	11	92531208	92531208	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92531208C>A	uc001pdj.3	+	c.5029C>A	c.(5029-5031)CAA>AAA	p.Q1677K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1677	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.321839	78.974122	81.42411	28	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92531208	92531208	5927	11	C	A	A	A	273	21	FAT3	2	2
FAT3	120114	broad.mit.edu	37	11	92531578	92531578	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92531578C>A	uc001pdj.3	+	c.5399C>A	c.(5398-5400)GCC>GAC	p.A1800D		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1800	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.5	41.847044	41.847044	14	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92531578	92531578	5927	11	C	A	A	A	338	26	FAT3	2	2
FAT3	120114	broad.mit.edu	37	11	92616156	92616156	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92616156G>T	uc001pdj.3	+	c.12534G>T	c.(12532-12534)AAG>AAT	p.K4178N	FAT3_uc001pdi.3_Missense_Mutation_p.K618N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4178	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)			0.384615	27.541517	27.845746	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92616156	92616156	5927	11	G	T	T	T	451	35	FAT3	2	2
FAM71C	196472	broad.mit.edu	37	12	100042298	100042298	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100042298G>C	uc001tgn.2	+	c.346G>C	c.(346-348)GAA>CAA	p.E116Q	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	116											0				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)										0.081818	4.583225	24.168028	9	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100042298	100042298	5832	12	G	C	C	C	429	33	FAM71C	3	3
NR1H4	9971	broad.mit.edu	37	12	100926249	100926249	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100926249A>T	uc001tht.1	+	c.489A>T	c.(487-489)AGA>AGT	p.R163S	NR1H4_uc001thp.1_Missense_Mutation_p.R153S|NR1H4_uc001thq.1_Missense_Mutation_p.R153S|NR1H4_uc010svj.1_Non-coding_Transcript|NR1H4_uc001thr.1_Missense_Mutation_p.R153S|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.R163S	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	163	Nuclear receptor.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3														0.397849	102.853401	103.702889	37	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100926249	100926249	11024	12	A	T	T	T	115	9	NR1H4	3	3
ANO4	121601	broad.mit.edu	37	12	101480521	101480521	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101480521G>A	uc010svm.1	+	c.1620G>A	c.(1618-1620)GCG>GCA	p.A540A	ANO4_uc001thw.2_Silent_p.A505A|ANO4_uc001thx.2_Silent_p.A540A|ANO4_uc001thy.2_Silent_p.A60A	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	540	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)	4														0.442478	290.950004	291.604022	100	126	KEEP	---	---	---	---	capture		Silent	SNP	101480521	101480521	707	12	G	A	A	A	509	40	ANO4	1	1
C12orf59	120939	broad.mit.edu	37	12	10339082	10339082	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10339082C>T	uc001qxq.2	+	c.141C>T	c.(139-141)TGC>TGT	p.C47C	C12orf59_uc001qxr.2_Silent_p.C67C	NM_153022	NP_694567	Q4KMG9	CL059_HUMAN	hypothetical protein LOC120939	67						integral to membrane				ovary(1)	1														0.134615	10.590502	17.32125	7	45	KEEP	---	---	---	---	capture		Silent	SNP	10339082	10339082	1746	12	C	T	T	T	363	28	C12orf59	2	2
WSCD2	9671	broad.mit.edu	37	12	108618519	108618519	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108618519G>T	uc001tms.2	+	c.686G>T	c.(685-687)GGA>GTA	p.G229V	WSCD2_uc001tmt.2_Missense_Mutation_p.G229V|WSCD2_uc001tmu.2_5'UTR	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	229						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3														0.424837	185.245211	186.000082	65	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108618519	108618519	17981	12	G	T	T	T	533	41	WSCD2	2	2
CMKLR1	1240	broad.mit.edu	37	12	108685692	108685692	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108685692G>T	uc009zuw.2	-	c.1048C>A	c.(1048-1050)CAT>AAT	p.H350N	CMKLR1_uc001tmw.2_Missense_Mutation_p.H350N|CMKLR1_uc001tmv.2_Missense_Mutation_p.H348N|CMKLR1_uc009zuv.2_Missense_Mutation_p.H350N	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	350	Cytoplasmic (Potential).				chemotaxis|immune response|positive regulation of macrophage chemotaxis|skeletal system development	integral to plasma membrane	chemokine receptor activity			ovary(1)	1														0.589286	212.564518	213.343149	66	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108685692	108685692	3717	12	G	T	T	T	611	47	CMKLR1	2	2
CMKLR1	1240	broad.mit.edu	37	12	108686330	108686330	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108686330C>A	uc009zuw.2	-	c.410G>T	c.(409-411)CGC>CTC	p.R137L	CMKLR1_uc001tmw.2_Missense_Mutation_p.R137L|CMKLR1_uc001tmv.2_Missense_Mutation_p.R135L|CMKLR1_uc009zuv.2_Missense_Mutation_p.R137L	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	137	Cytoplasmic (Potential).				chemotaxis|immune response|positive regulation of macrophage chemotaxis|skeletal system development	integral to plasma membrane	chemokine receptor activity			ovary(1)	1														0.360465	91.691538	93.169188	31	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108686330	108686330	3717	12	C	A	A	A	351	27	CMKLR1	1	1
TAS2R50	259296	broad.mit.edu	37	12	11138692	11138693	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11138692_11138693CC>AA	uc001qzl.2	-	c.767_768GG>TT	c.(766-768)CGG>CTT	p.R256L	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	256	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(2)	2														0.128205	5.444659	10.702405	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	11138692	11138693	16106	12	CC	AA	AA	AA	379	30	TAS2R50	2	2
ERC1	23085	broad.mit.edu	37	12	1137189	1137189	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1137189G>T	uc001qjb.2	+	c.120G>T	c.(118-120)GGG>GGT	p.G40G	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Silent_p.G40G|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Silent_p.G40G	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	40					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(1)	3	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)							378				0.176471	27.275227	37.37288	18	84	KEEP	---	---	---	---	capture		Silent	SNP	1137189	1137189	5403	12	G	T	T	T	522	41	ERC1	2	2
RBM19	9904	broad.mit.edu	37	12	114384275	114384275	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114384275C>A	uc009zwi.2	-	c.1413G>T	c.(1411-1413)AGG>AGT	p.R471S	RBM19_uc001tvn.3_Missense_Mutation_p.R471S|RBM19_uc001tvm.2_Missense_Mutation_p.R471S	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	471	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(2)|ovary(1)|liver(1)|central_nervous_system(1)	5	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.375	62.979791	63.859138	24	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114384275	114384275	13582	12	C	A	A	A	389	30	RBM19	2	2
NOS1	4842	broad.mit.edu	37	12	117657886	117657886	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117657886C>A	uc001twm.1	-	c.4164G>T	c.(4162-4164)CGG>CGT	p.R1388R		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1388					arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.45	195.142398	195.495308	72	88	KEEP	---	---	---	---	capture		Silent	SNP	117657886	117657886	10944	12	C	A	A	A	379	30	NOS1	2	2
GCN1L1	10985	broad.mit.edu	37	12	120596319	120596319	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120596319C>A	uc001txo.2	-	c.2850G>T	c.(2848-2850)GCG>GCT	p.A950A		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	950					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(3)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.3	7.620614	7.978308	3	7	KEEP	---	---	---	---	capture		Silent	SNP	120596319	120596319	6565	12	C	A	A	A	288	23	GCN1L1	1	1
C12orf43	64897	broad.mit.edu	37	12	121442169	121442169	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121442169C>T	uc009zxa.1	-	c.669G>A	c.(667-669)AAG>AAA	p.K223K	C12orf43_uc001tzh.1_Silent_p.K192K|C12orf43_uc010szo.1_Silent_p.K151K|C12orf43_uc010szp.1_Silent_p.K182K|C12orf43_uc001tzi.1_Silent_p.K193K	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	192	Lys-rich.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.413333	183.013267	183.999152	62	88	KEEP	---	---	---	---	capture		Silent	SNP	121442169	121442169	1733	12	C	T	T	T	259	20	C12orf43	2	2
HIP1R	9026	broad.mit.edu	37	12	123341206	123341206	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123341206A>G	uc001udj.1	+	c.1553A>G	c.(1552-1554)AAG>AGG	p.K518R	HIP1R_uc001udg.1_Missense_Mutation_p.K506R|HIP1R_uc001udi.1_Missense_Mutation_p.K518R|HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	518	Potential.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)										0.416667	17.873279	17.945971	5	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123341206	123341206	7400	12	A	G	G	G	39	3	HIP1R	4	4
DNAH10	196385	broad.mit.edu	37	12	124360011	124360011	+	Silent	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124360011T>C	uc001uft.3	+	c.7818T>C	c.(7816-7818)TAT>TAC	p.Y2606Y		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2606	AAA 3 (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)										0.4	141.410207	142.275195	40	60	KEEP	---	---	---	---	capture		Silent	SNP	124360011	124360011	4780	12	T	C	C	C	673	52	DNAH10	4	4
TMEM132B	114795	broad.mit.edu	37	12	126137174	126137174	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:126137174A>T	uc001uhe.1	+	c.2087A>T	c.(2086-2088)CAG>CTG	p.Q696L	TMEM132B_uc001uhf.1_Missense_Mutation_p.Q208L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	696	Extracellular (Potential).					integral to membrane				ovary(5)|large_intestine(1)|breast(1)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)										0.3	63.360567	66.225038	24	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126137174	126137174	16577	12	A	T	T	T	91	7	TMEM132B	3	3
RIMBP2	23504	broad.mit.edu	37	12	130912820	130912820	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130912820G>A	uc001uil.2	-	c.2265C>T	c.(2263-2265)GAC>GAT	p.D755D		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	755						cell junction|synapse				ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)										0.321101	90.181493	93.283014	35	74	KEEP	---	---	---	---	capture		Silent	SNP	130912820	130912820	13838	12	G	A	A	A	620	48	RIMBP2	2	2
RIMBP2	23504	broad.mit.edu	37	12	130919333	130919333	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130919333C>A	uc001uil.2	-	c.2148G>T	c.(2146-2148)AAG>AAT	p.K716N	RIMBP2_uc001uim.2_Missense_Mutation_p.K624N|RIMBP2_uc001uin.1_Missense_Mutation_p.K375N	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	716						cell junction|synapse				ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)										0.450704	176.154934	176.458655	64	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130919333	130919333	13838	12	C	A	A	A	415	32	RIMBP2	2	2
ZNF268	10795	broad.mit.edu	37	12	133779191	133779191	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133779191A>T	uc010tcf.1	+	c.919A>T	c.(919-921)AAT>TAT	p.N307Y	ZNF268_uc010tbv.1_Missense_Mutation_p.N146Y|ZNF268_uc010tbw.1_Missense_Mutation_p.N146Y|ZNF268_uc010tbx.1_Missense_Mutation_p.N167Y|ZNF268_uc010tby.1_Missense_Mutation_p.N146Y|ZNF268_uc010tbz.1_Missense_Mutation_p.N146Y|ZNF268_uc010tca.1_Missense_Mutation_p.N146Y|ZNF268_uc010tcb.1_Missense_Mutation_p.N167Y|ZNF268_uc010tcc.1_Missense_Mutation_p.N146Y|ZNF268_uc010tcd.1_Missense_Mutation_p.N146Y|ZNF268_uc010tce.1_Missense_Mutation_p.N146Y|ZNF268_uc010tcg.1_Missense_Mutation_p.N146Y|ZNF268_uc010tch.1_Missense_Mutation_p.N307Y	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	307	C2H2-type 2.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)										0.5	11.198074	11.198074	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133779191	133779191	18399	12	A	T	T	T	169	13	ZNF268	3	3
GUCY2C	2984	broad.mit.edu	37	12	14798242	14798242	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:14798242A>G	uc001rcd.2	-	c.1718T>C	c.(1717-1719)TTA>TCA	p.L573S		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	573	Cytoplasmic (Potential).|Protein kinase.				intracellular signal transduction|protein phosphorylation|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(1)	5										889				0.245098	71.623943	77.661861	25	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14798242	14798242	7176	12	A	G	G	G	169	13	GUCY2C	4	4
ART4	420	broad.mit.edu	37	12	14993793	14993793	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:14993793G>C	uc001rcl.1	-	c.439C>G	c.(439-441)CCA>GCA	p.P147A	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.P147A	NM_021071	NP_066549	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 precursor	147					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity				0														0.168421	40.142787	50.032803	16	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14993793	14993793	1017	12	G	C	C	C	533	41	ART4	3	3
PTPRO	5800	broad.mit.edu	37	12	15699587	15699587	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:15699587A>G	uc001rcv.1	+	c.2249A>G	c.(2248-2250)GAT>GGT	p.D750G	PTPRO_uc001rcw.1_Missense_Mutation_p.D750G|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	750	Fibronectin type-III 8.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Hepatocellular(102;0.244)												0.584906	112.757254	113.099925	31	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15699587	15699587	13266	12	A	G	G	G	156	12	PTPRO	4	4
SLCO1C1	53919	broad.mit.edu	37	12	20874895	20874895	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20874895C>A	uc010sii.1	+	c.933C>A	c.(931-933)TCC>TCA	p.S311S	SLCO1C1_uc010sij.1_Silent_p.S262S|SLCO1C1_uc001rej.3_Silent_p.S311S|SLCO1C1_uc009zip.2_Silent_p.S145S|SLCO1C1_uc001rei.2_Silent_p.S311S|SLCO1C1_uc010sik.1_Silent_p.S193S	NM_001145946	NP_001139418	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	311	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)	6	Esophageal squamous(101;0.149)													0.489362	69.119636	69.124373	23	24	KEEP	---	---	---	---	capture		Silent	SNP	20874895	20874895	15222	12	C	A	A	A	301	24	SLCO1C1	2	2
ITPR2	3709	broad.mit.edu	37	12	26784866	26784866	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26784866C>A	uc001rhg.2	-	c.2867G>T	c.(2866-2868)GGG>GTG	p.G956V		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	956	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.43662	272.723586	273.472376	93	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26784866	26784866	8225	12	C	A	A	A	286	22	ITPR2	2	2
BICD1	636	broad.mit.edu	37	12	32458910	32458910	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32458910G>T	uc001rku.2	+	c.859G>T	c.(859-861)GGT>TGT	p.G287C	BICD1_uc001rkv.2_Missense_Mutation_p.G287C|BICD1_uc010skd.1_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	287					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)	1	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)											0.367347	109.275034	110.790718	36	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32458910	32458910	1453	12	G	T	T	T	507	39	BICD1	1	1
SYT10	341359	broad.mit.edu	37	12	33532835	33532835	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33532835G>T	uc001rll.1	-	c.1432C>A	c.(1432-1434)CGA>AGA	p.R478R	SYT10_uc009zju.1_Silent_p.R288R	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	478	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)													0.360902	133.562956	135.785048	48	85	KEEP	---	---	---	---	capture		Silent	SNP	33532835	33532835	15987	12	G	T	T	T	493	38	SYT10	1	1
ANO6	196527	broad.mit.edu	37	12	45744489	45744489	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45744489G>T	uc010slf.1	+	c.858G>T	c.(856-858)CGG>CGT	p.R286R	ANO6_uc001roo.2_Silent_p.R265R|ANO6_uc010sld.1_Silent_p.R265R|ANO6_uc010sle.1_Silent_p.R265R|ANO6_uc010slg.1_Silent_p.R247R	NM_001142678	NP_001136150	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform b	265	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2														0.355556	46.386426	47.214074	16	29	KEEP	---	---	---	---	capture		Silent	SNP	45744489	45744489	709	12	G	T	T	T	561	44	ANO6	2	2
ARID2	196528	broad.mit.edu	37	12	46211516	46211516	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46211516T>A	uc001ros.1	+	c.482T>A	c.(481-483)TTG>TAG	p.L161*	ARID2_uc001ror.2_Nonsense_Mutation_p.L161*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	161					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(1)	7	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)										0.483516	140.59595	140.617452	44	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46211516	46211516	930	12	T	A	A	A	819	63	ARID2	5	3
COL2A1	1280	broad.mit.edu	37	12	48391491	48391491	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48391491C>A	uc001rqu.2	-	c.430_splice	c.e7-1	p.G144_splice	COL2A1_uc001rqv.2_Splice_Site_SNP_p.G75_splice	NM_001844	NP_001835			collagen, type II, alpha 1 isoform 1 precursor						axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	extracellular matrix structural constituent conferring tensile strength|identical protein binding|platelet-derived growth factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)									0.468208	249.465596	249.617157	81	92	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	48391491	48391491	3825	12	C	A	A	A	312	24	COL2A1	5	2
LMBR1L	55716	broad.mit.edu	37	12	49495285	49495285	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49495285G>C	uc001rth.3	-	c.978C>G	c.(976-978)ATC>ATG	p.I326M	LMBR1L_uc001rtg.3_Missense_Mutation_p.I321M|LMBR1L_uc001rti.3_Missense_Mutation_p.I326M|LMBR1L_uc001rtj.1_Missense_Mutation_p.I170M|LMBR1L_uc009zld.1_Missense_Mutation_p.I199M	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	326	Helical; (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1														0.521739	44.502018	44.511525	12	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49495285	49495285	9170	12	G	C	C	C	473	37	LMBR1L	3	3
ANKRD33	341405	broad.mit.edu	37	12	52283238	52283238	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52283238G>C	uc001rzd.2	+	c.609G>C	c.(607-609)GCG>GCC	p.A203A	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzf.3_Silent_p.A68A|ANKRD33_uc001rze.2_Silent_p.A68A|ANKRD33_uc001rzg.3_5'UTR|ANKRD33_uc001rzi.3_Silent_p.A68A	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 2	68	ANK 2.										0				BRCA - Breast invasive adenocarcinoma(357;0.0969)										0.396552	75.856974	76.385363	23	35	KEEP	---	---	---	---	capture		Silent	SNP	52283238	52283238	667	12	G	C	C	C	509	40	ANKRD33	3	3
NR4A1	3164	broad.mit.edu	37	12	52451017	52451017	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52451017G>T	uc010sno.1	+	c.1374G>T	c.(1372-1374)GAG>GAT	p.E458D	NR4A1_uc001rzs.2_Missense_Mutation_p.E445D|NR4A1_uc001rzt.2_Missense_Mutation_p.E445D|NR4A1_uc009zmc.2_Missense_Mutation_p.S59I	NM_173157	NP_775180	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	445	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)										0.302326	33.958111	35.458561	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52451017	52451017	11037	12	G	T	T	T	438	34	NR4A1	2	2
KRT8	3856	broad.mit.edu	37	12	53295812	53295812	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53295812C>G	uc009zmk.1	-	c.453G>C	c.(451-453)TGG>TGC	p.W151C	KRT8_uc001sbd.2_Missense_Mutation_p.W123C|KRT8_uc009zmj.2_Missense_Mutation_p.W123C|KRT8_uc009zml.1_Missense_Mutation_p.W123C|KRT8_uc009zmm.1_Missense_Mutation_p.W123C	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	123	Coil 1A.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.386364	53.766857	54.264006	17	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53295812	53295812	8808	12	C	G	G	G	390	30	KRT8	3	3
HOXC10	3226	broad.mit.edu	37	12	54379159	54379159	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54379159T>C	uc001sen.2	+	c.116T>C	c.(115-117)TTC>TCC	p.F39S		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	homeobox C10	39					positive regulation of cell proliferation|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1														0.448	188.596486	188.888355	56	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54379159	54379159	7601	12	T	C	C	C	806	62	HOXC10	4	4
OR6C1	390321	broad.mit.edu	37	12	55715172	55715172	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55715172A>G	uc010spi.1	+	c.789A>G	c.(787-789)AAA>AAG	p.K263K		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.413793	173.686093	174.437164	48	68	KEEP	---	---	---	---	capture		Silent	SNP	55715172	55715172	11600	12	A	G	G	G	37	3	OR6C1	4	4
OR6C75	390323	broad.mit.edu	37	12	55759747	55759747	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55759747C>A	uc010spk.1	+	c.853C>A	c.(853-855)CCC>ACC	p.P285T		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.38806	64.926393	65.663879	26	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55759747	55759747	11609	12	C	A	A	A	390	30	OR6C75	2	2
NTF3	4908	broad.mit.edu	37	12	5603701	5603701	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5603701C>A	uc001qnk.3	+	c.360C>A	c.(358-360)AGC>AGA	p.S120R	NTF3_uc001qnl.3_Missense_Mutation_p.S107R	NM_001102654	NP_001096124	P20783	NTF3_HUMAN	neurotrophin 3 isoform 1 preproprotein	107					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						GBM(194;1104 2182 8339 9578 18493)								0.463768	99.028212	99.10244	32	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5603701	5603701	11101	12	C	A	A	A	350	27	NTF3	1	1
GLI1	2735	broad.mit.edu	37	12	57859454	57859454	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57859454C>G	uc001snx.2	+	c.599C>G	c.(598-600)TCC>TGC	p.S200C	GLI1_uc009zpq.2_Missense_Mutation_p.S72C	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	200					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of gene-specific transcription|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	promoter binding|transcription activator activity|zinc ion binding			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	14			GBM - Glioblastoma multiforme(3;3.99e-32)			Pancreas(157;841 1936 10503 41495 50368)				277				0.460674	147.684214	147.80166	41	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57859454	57859454	6705	12	C	G	G	G	390	30	GLI1	3	3
MDM2	4193	broad.mit.edu	37	12	69218142	69218142	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:69218142G>T	uc001sui.2	+	c.359_splice	c.e6-1	p.E120_splice	MDM2_uc009zri.2_Splice_Site_SNP_p.E75_splice|MDM2_uc009zqx.2_Intron|MDM2_uc009zqw.2_Splice_Site_SNP_p.E120_splice|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Splice_Site_SNP_p.E109_splice|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Splice_Site_SNP_p.E114_splice|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Splice_Site_SNP|MDM2_uc009zrc.2_Splice_Site_SNP|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	NM_002392	NP_002383			mouse double minute 2 homolog isoform MDM2						cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	basal transcription repressor activity|enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)							221				0.307692	31.282929	32.570099	12	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	69218142	69218142	9802	12	G	T	T	T	429	33	MDM2	5	2
TBC1D15	64786	broad.mit.edu	37	12	72266764	72266764	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72266764G>A	uc001swu.2	+	c.251G>A	c.(250-252)AGT>AAT	p.S84N	TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_Missense_Mutation_p.S70N|TBC1D15_uc001swv.2_Missense_Mutation_p.S84N|TBC1D15_uc001sww.2_5'UTR	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	62							protein binding|Rab GTPase activator activity				0														0.402299	105.405242	106.132156	35	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72266764	72266764	16126	12	G	A	A	A	468	36	TBC1D15	2	2
CD163	9332	broad.mit.edu	37	12	7636212	7636212	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7636212C>A	uc001qsz.3	-	c.2839G>T	c.(2839-2841)GGA>TGA	p.G947*	CD163_uc001qta.3_Nonsense_Mutation_p.G947*|CD163_uc009zfw.2_Nonsense_Mutation_p.G980*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	947	SRCR 9.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8														0.218182	27.76686	31.795859	12	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7636212	7636212	3094	12	C	A	A	A	273	21	CD163	5	2
PHLDA1	22822	broad.mit.edu	37	12	76424431	76424431	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76424431G>C	uc001sxu.2	-	c.1091C>G	c.(1090-1092)TCG>TGG	p.S364W		NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A,	364	14 X 2 AA repeats of P-H.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding				0		Colorectal(145;0.09)												0.3125	17.669485	18.170027	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76424431	76424431	12272	12	G	C	C	C	481	37	PHLDA1	3	3
BBS10	79738	broad.mit.edu	37	12	76739974	76739974	+	Silent	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76739974A>T	uc001syd.1	-	c.1791T>A	c.(1789-1791)GGT>GGA	p.G597G		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	597					cellular protein metabolic process|photoreceptor cell maintenance|response to stimulus|retina homeostasis|sensory cilium assembly	cilium	ATP binding			ovary(1)	1														0.485437	147.435654	147.454914	50	53	KEEP	---	---	---	---	capture		Silent	SNP	76739974	76739974	1357	12	A	T	T	T	15	2	BBS10	3	3
PPFIA2	8499	broad.mit.edu	37	12	81762625	81762625	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81762625C>G	uc001szo.1	-	c.1361G>C	c.(1360-1362)AGA>ACA	p.R454T	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Non-coding_Transcript|PPFIA2_uc010suh.1_Non-coding_Transcript|PPFIA2_uc010sui.1_Non-coding_Transcript|PPFIA2_uc010suj.1_Non-coding_Transcript|PPFIA2_uc009zsi.1_Non-coding_Transcript|PPFIA2_uc010suf.1_Non-coding_Transcript|PPFIA2_uc009zsh.2_Non-coding_Transcript	NM_003625	NP_003616	O75334	LIPA2_HUMAN	PTPRF interacting protein alpha 2	454	Glu-rich.|Potential.				cell-matrix adhesion	cell surface|cytoplasm	protein binding			ovary(3)|lung(2)|pancreas(1)	6														0.385965	74.637233	75.286913	22	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81762625	81762625	12740	12	C	G	G	G	416	32	PPFIA2	3	3
LRRIQ1	84125	broad.mit.edu	37	12	85450738	85450738	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85450738G>A	uc001tac.2	+	c.2167G>A	c.(2167-2169)GAT>AAT	p.D723N	LRRIQ1_uc001tab.1_Missense_Mutation_p.D723N|LRRIQ1_uc001taa.1_Missense_Mutation_p.D698N	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	723										ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(134;0.212)										0.328947	199.144741	205.060372	75	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85450738	85450738	9405	12	G	A	A	A	585	45	LRRIQ1	2	2
CLEC6A	93978	broad.mit.edu	37	12	8628815	8628815	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8628815C>A	uc001qum.1	+	c.464C>A	c.(463-465)ACA>AAA	p.T155K		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	dectin-2	155	Extracellular (Potential).|C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)	1	Lung SC(5;0.184)													0.396552	70.912047	71.455435	23	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8628815	8628815	3658	12	C	A	A	A	221	17	CLEC6A	2	2
C12orf63	374467	broad.mit.edu	37	12	97087505	97087505	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:97087505G>T	uc001tet.1	+	c.1545G>T	c.(1543-1545)CTG>CTT	p.L515L		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	515										ovary(1)	1														0.269663	64.658207	68.919992	24	65	KEEP	---	---	---	---	capture		Silent	SNP	97087505	97087505	1750	12	G	T	T	T	587	46	C12orf63	2	2
TMPO	7112	broad.mit.edu	37	12	98927517	98927517	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:98927517C>G	uc001tfh.1	+	c.1482C>G	c.(1480-1482)TTC>TTG	p.F494L	TMPO_uc001tfi.1_Intron|TMPO_uc001tfj.2_Intron|TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron	NM_003276	NP_003267	P42167	LAP2B_HUMAN	thymopoietin isoform alpha	Error:Variant_position_missing_in_P42167_after_alignment						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2										621				0.207317	48.027208	54.536104	17	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98927517	98927517	16777	12	C	G	G	G	389	30	TMPO	3	3
NALCN	259232	broad.mit.edu	37	13	101712240	101712240	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101712240G>A	uc001vox.1	-	c.4835C>T	c.(4834-4836)CCC>CTC	p.P1612L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1612	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.301205	211.228737	220.017574	75	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101712240	101712240	10544	13	G	A	A	A	559	43	NALCN	2	2
ERCC5	2073	broad.mit.edu	37	13	103492110	103492110	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103492110C>T	uc001vpu.1	+	c.1407C>T	c.(1405-1407)TTC>TTT	p.F469F	BIVM_uc001vps.2_Silent_p.F469F|BIVM_uc010agc.2_Silent_p.F247F|BIVM_uc001vpv.2_Silent_p.F240F	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|central_nervous_system(1)	5	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)									463				0.160752	134.630477	187.152014	77	402	KEEP	---	---	---	---	capture		Silent	SNP	103492110	103492110	5409	13	C	T	T	T	376	29	ERCC5	2	2
LIG4	3981	broad.mit.edu	37	13	108862284	108862284	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:108862284C>A	uc001vqn.2	-	c.1333G>T	c.(1333-1335)GAA>TAA	p.E445*	LIG4_uc001vqo.2_Nonsense_Mutation_p.E445*|LIG4_uc010agg.1_Nonsense_Mutation_p.E378*|LIG4_uc010agf.2_Nonsense_Mutation_p.E445*|LIG4_uc001vqp.2_Nonsense_Mutation_p.E445*	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	445					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)													0.360239	672.503903	684.042928	241	428	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108862284	108862284	9109	13	C	A	A	A	377	29	LIG4	5	2
MYO16	23026	broad.mit.edu	37	13	109445881	109445881	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109445881C>A	uc010agk.1	+	c.634C>A	c.(634-636)CTG>ATG	p.L212M	MYO16_uc001vqt.1_Missense_Mutation_p.L190M|MYO16_uc001vqu.1_De_novo_Start_InFrame	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	190					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.546939	439.763583	440.231844	134	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109445881	109445881	10459	13	C	A	A	A	259	20	MYO16	2	2
MYO16	23026	broad.mit.edu	37	13	109535456	109535456	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109535456C>A	uc010agk.1	+	c.1475C>A	c.(1474-1476)CCT>CAT	p.P492H	MYO16_uc001vqt.1_Missense_Mutation_p.P470H|MYO16_uc001vqu.1_Missense_Mutation_p.P270H	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	470	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.336957	505.71285	518.725069	186	366	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109535456	109535456	10459	13	C	A	A	A	312	24	MYO16	2	2
COL4A1	1282	broad.mit.edu	37	13	110813651	110813651	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110813651C>A	uc001vqw.3	-	c.4528G>T	c.(4528-4530)GTG>TTG	p.V1510L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1510	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.340909	138.137003	141.08862	45	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110813651	110813651	3827	13	C	A	A	A	247	19	COL4A1	1	1
COL4A2	1284	broad.mit.edu	37	13	111009827	111009827	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111009827G>A	uc001vqx.2	+	c.108G>A	c.(106-108)AAG>AAA	p.K36K		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	36					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)											0.125	6.444252	11.942838	5	35	KEEP	---	---	---	---	capture		Silent	SNP	111009827	111009827	3828	13	G	A	A	A	425	33	COL4A2	2	2
CDC16	8881	broad.mit.edu	37	13	115002123	115002123	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:115002123C>T	uc001vuk.1	+	c.52C>T	c.(52-54)CAG>TAG	p.Q18*	CDC16_uc010tkm.1_Nonsense_Mutation_p.Q18*|CDC16_uc001vul.1_Nonsense_Mutation_p.Q18*|CDC16_uc001vum.1_5'UTR|CDC16_uc001vun.1_Nonsense_Mutation_p.Q18*|CDC16_uc001vuo.1_Nonsense_Mutation_p.Q18*	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)											0.522222	267.853824	267.932425	94	86	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	115002123	115002123	3186	13	C	T	T	T	221	17	CDC16	5	2
MTUS2	23281	broad.mit.edu	37	13	29608211	29608211	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29608211C>A	uc001usl.3	+	c.2425C>A	c.(2425-2427)CCA>ACA	p.P809T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	799	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.64	50.60327	51.03379	16	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29608211	29608211	10359	13	C	A	A	A	286	22	MTUS2	2	2
MTUS2	23281	broad.mit.edu	37	13	29855914	29855914	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29855914C>T	uc001usl.3	+	c.2748C>T	c.(2746-2748)GCC>GCT	p.A916A		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	906	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.931034	93.698798	98.399188	27	2	KEEP	---	---	---	---	capture		Silent	SNP	29855914	29855914	10359	13	C	T	T	T	288	23	MTUS2	1	1
BRCA2	675	broad.mit.edu	37	13	32914679	32914679	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32914679G>A	uc001uub.1	+	c.6187G>A	c.(6187-6189)GGA>AGA	p.G2063R		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2063	BRCA2 8.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.796296	137.213339	141.597077	43	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32914679	32914679	1530	13	G	A	A	A	611	47	BRCA2	2	2
RB1	5925	broad.mit.edu	37	13	49033954	49033954	+	Missense_Mutation	SNP	C	G	G	rs3092903	byFrequency	TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:49033954C>G	uc001vcb.2	+	c.2091C>G	c.(2089-2091)GAC>GAG	p.D697E		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	697	Pocket; binds T and E1A.|Domain B.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|transcription repressor activity|ubiquitin protein ligase binding	p.?(1)		lung(93)|eye(89)|central_nervous_system(47)|bone(22)|breast(20)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|soft_tissue(8)|prostate(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	355		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			6		568	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0.704545	120.64431	122.291127	31	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49033954	49033954	13559	13	C	G	G	G	220	17	RB1	3	3
PCDH20	64881	broad.mit.edu	37	13	61987001	61987001	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:61987001T>A	uc001vid.3	-	c.1231A>T	c.(1231-1233)ACT>TCT	p.T411S	PCDH20_uc010thj.1_Missense_Mutation_p.T411S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	384	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)										0.752137	300.553663	307.323383	88	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61987001	61987001	11935	13	T	A	A	A	767	59	PCDH20	3	3
KLHL1	57626	broad.mit.edu	37	13	70514361	70514361	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70514361C>A	uc001vip.2	-	c.825G>T	c.(823-825)TTG>TTT	p.L275F	KLHL1_uc010thm.1_Missense_Mutation_p.L214F	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	275	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.333333	20.217488	20.734357	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70514361	70514361	8677	13	C	A	A	A	272	21	KLHL1	2	2
MYCBP2	23077	broad.mit.edu	37	13	77663032	77663032	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:77663032C>G	uc001vkf.2	-	c.10546G>C	c.(10546-10548)GAA>CAA	p.E3516Q	MYCBP2_uc010aev.2_Missense_Mutation_p.E2920Q|MYCBP2_uc001vke.2_Missense_Mutation_p.E136Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3516					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)										0.385542	110.981742	111.934717	32	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77663032	77663032	10413	13	C	G	G	G	416	32	MYCBP2	3	3
EDNRB	1910	broad.mit.edu	37	13	78492680	78492680	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:78492680C>A	uc001vkp.1	-	c.278G>T	c.(277-279)CGC>CTC	p.R93L	EDNRB_uc001vkq.1_Missense_Mutation_p.R10L|EDNRB_uc001vko.2_Missense_Mutation_p.R10L|EDNRB_uc010aez.1_Missense_Mutation_p.R10L|EDNRB_uc010afa.1_Missense_Mutation_p.R10L	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	10				R -> P (in Ref. 3; AAB19411).	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron maturation|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)					117		OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.530612	85.253341	85.293351	26	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78492680	78492680	5107	13	C	A	A	A	351	27	EDNRB	1	1
DLK1	8788	broad.mit.edu	37	14	101200812	101200812	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:101200812G>T	uc001yhs.3	+	c.731G>T	c.(730-732)TGT>TTT	p.C244F	DLK1_uc001yhu.3_Intron	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	244	Extracellular (Potential).|EGF-like 6.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)	2		Melanoma(154;0.155)												0.4875	120.21938	120.230342	39	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101200812	101200812	4744	14	G	T	T	T	624	48	DLK1	2	2
RTL1	388015	broad.mit.edu	37	14	101349375	101349375	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:101349375G>T	uc010txj.1	-	c.1751C>A	c.(1750-1752)TCC>TAC	p.S584Y	MIR127_hsa-mir-127|MI0000472_miRNA|MIR432_hsa-mir-432|MI0003133_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	584										pancreas(1)	1														0.416667	52.809134	53.117877	20	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101349375	101349375	14204	14	G	T	T	T	533	41	RTL1	2	2
TECPR2	9895	broad.mit.edu	37	14	102900761	102900761	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102900761G>T	uc001ylw.1	+	c.1607G>T	c.(1606-1608)GGT>GTT	p.G536V	TECPR2_uc010awl.2_Missense_Mutation_p.G536V|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	536							protein binding			lung(1)|central_nervous_system(1)	2														0.570093	198.786928	199.244926	61	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102900761	102900761	16271	14	G	T	T	T	572	44	TECPR2	2	2
KIF26A	26153	broad.mit.edu	37	14	104643066	104643066	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:104643066G>T	uc001yos.3	+	c.3941G>T	c.(3940-3942)GGT>GTT	p.G1314V		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1314					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)										0.5	6.449908	6.449908	2	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104643066	104643066	8605	14	G	T	T	T	572	44	KIF26A	2	2
OR4Q3	441669	broad.mit.edu	37	14	20216413	20216413	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20216413A>G	uc010tkt.1	+	c.827A>G	c.(826-828)TAC>TGC	p.Y276C		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.254237	136.705835	146.396781	45	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20216413	20216413	11491	14	A	G	G	G	182	14	OR4Q3	4	4
OR4N5	390437	broad.mit.edu	37	14	20612581	20612581	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20612581C>A	uc010tla.1	+	c.687C>A	c.(685-687)TCC>TCA	p.S229S		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)										0.430464	192.545447	193.183045	65	86	KEEP	---	---	---	---	capture		Silent	SNP	20612581	20612581	11489	14	C	A	A	A	301	24	OR4N5	2	2
SLC39A2	29986	broad.mit.edu	37	14	21469627	21469627	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21469627C>T	uc001vyr.2	+	c.819C>T	c.(817-819)ACC>ACT	p.T273T	SLC39A2_uc001vys.2_Silent_p.T174T	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter),	273	Helical; (Potential).					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			ovary(2)|central_nervous_system(1)	3	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)										0.357143	148.778889	151.308627	50	90	KEEP	---	---	---	---	capture		Silent	SNP	21469627	21469627	15115	14	C	T	T	T	301	24	SLC39A2	2	2
METTL3	56339	broad.mit.edu	37	14	21969067	21969067	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21969067G>C	uc001wbc.2	-	c.1104C>G	c.(1102-1104)CTC>CTG	p.L368L	METTL3_uc001wbb.2_Silent_p.L213L|METTL3_uc010tlw.1_Non-coding_Transcript	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	methyltransferase like 3	368					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			pancreas(1)	1	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)										0.342857	35.440584	36.227207	12	23	KEEP	---	---	---	---	capture		Silent	SNP	21969067	21969067	9891	14	G	C	C	C	418	33	METTL3	3	3
ABHD4	63874	broad.mit.edu	37	14	23079849	23079849	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23079849G>A	uc001wgm.2	+	c.1024G>A	c.(1024-1026)GAT>AAT	p.D342N	ABHD4_uc010tnb.1_Non-coding_Transcript	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	342					lipid catabolic process		hydrolase activity			central_nervous_system(1)	1	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)										0.064516	-3.45159	8.770726	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23079849	23079849	85	14	G	A	A	A	585	45	ABHD4	2	2
PSMB5	5693	broad.mit.edu	37	14	23504054	23504054	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23504054C>A	uc001wii.2	-	c.37G>T	c.(37-39)GTG>TTG	p.V13L	PSMB5_uc001wij.2_Missense_Mutation_p.V13L|PSMB5_uc010tni.1_Intron	NM_002797	NP_002788	P28074	PSB5_HUMAN	proteasome beta 5 subunit isoform 1	13					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	protein binding|threonine-type endopeptidase activity			ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)									0.54717	90.486312	90.590538	29	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23504054	23504054	13133	14	C	A	A	A	234	18	PSMB5	2	2
MYH6	4624	broad.mit.edu	37	14	23872969	23872970	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23872969_23872970GG>AT	uc001wjv.2	-	c.753_754CC>AT	c.(751-756)ATCCAC>ATATAC	p.H252Y	MYH6_uc010akp.1_Missense_Mutation_p.H252Y	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	252	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.333333	14.942273	15.385948	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	23872969	23872970	10433	14	GG	AT	AT	AT	611	47	MYH6	2	2
PCK2	5106	broad.mit.edu	37	14	24567693	24567693	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24567693T>C	uc001wlt.2	+	c.470T>C	c.(469-471)ATG>ACG	p.M157T	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.M169T|PCK2_uc001wls.2_Missense_Mutation_p.M157T|PCK2_uc010tnw.1_Missense_Mutation_p.M23T|PCK2_uc010ald.2_Missense_Mutation_p.M9T|PCK2_uc010ale.2_Missense_Mutation_p.M23T|PCK2_uc010tnx.1_Missense_Mutation_p.M23T|PCK2_uc001wlu.3_Missense_Mutation_p.M23T	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	157					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)										0.451613	45.948205	46.011135	14	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24567693	24567693	12002	14	T	C	C	C	663	51	PCK2	4	4
ARHGAP5	394	broad.mit.edu	37	14	32562802	32562802	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:32562802A>G	uc001wrl.2	+	c.2927A>G	c.(2926-2928)AAT>AGT	p.N976S	ARHGAP5_uc001wrm.2_Missense_Mutation_p.N976S|ARHGAP5_uc001wrn.2_Missense_Mutation_p.N976S|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	976					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(3)|central_nervous_system(1)	4	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		NSCLC(9;77 350 3443 29227 41353)								0.340426	111.373664	113.488262	32	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32562802	32562802	900	14	A	G	G	G	52	4	ARHGAP5	4	4
RALGAPA1	253959	broad.mit.edu	37	14	36147196	36147196	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:36147196C>G	uc001wtj.2	-	c.3066G>C	c.(3064-3066)GAG>GAC	p.E1022D	RALGAPA1_uc001wti.2_Missense_Mutation_p.E1022D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.E1035D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.E1069D|RALGAPA1_uc001wtk.1_Missense_Mutation_p.E920D	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1022					activation of Ral GTPase activity|signal transduction	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4														0.43617	142.762979	143.096706	41	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36147196	36147196	13473	14	C	G	G	G	415	32	RALGAPA1	3	3
MDGA2	161357	broad.mit.edu	37	14	47426604	47426604	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47426604C>A	uc001wwj.3	-	c.1855G>T	c.(1855-1857)GCT>TCT	p.A619S	MDGA2_uc001wwi.3_Missense_Mutation_p.A390S|MDGA2_uc010ani.2_Missense_Mutation_p.A179S	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	619	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.517857	89.773383	89.788731	29	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47426604	47426604	9796	14	C	A	A	A	364	28	MDGA2	2	2
C14orf166	51637	broad.mit.edu	37	14	52471094	52471094	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52471094G>A	uc010aod.2	+	c.595G>A	c.(595-597)GAA>AAA	p.E199K	C14orf166_uc001wzm.3_Missense_Mutation_p.E65K|C14orf166_uc001wzn.3_Missense_Mutation_p.E61K	NM_016039	NP_057123	Q9Y224	CN166_HUMAN	homeobox prox 1	199						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding				0	Breast(41;0.0639)|all_epithelial(31;0.101)													0.2	19.457657	24.11277	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52471094	52471094	1804	14	G	A	A	A	585	45	C14orf166	2	2
PTGDR	5729	broad.mit.edu	37	14	52735298	52735298	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52735298C>T	uc001wzq.2	+	c.766C>T	c.(766-768)CAG>TAG	p.Q256*		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	256	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)									0.44898	256.778971	257.222288	88	108	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52735298	52735298	13195	14	C	T	T	T	377	29	PTGDR	5	2
MUDENG	55745	broad.mit.edu	37	14	57736068	57736068	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:57736068A>T	uc001xcv.2	+	c.36A>T	c.(34-36)GAA>GAT	p.E12D	EXOC5_uc001xct.2_5'Flank|EXOC5_uc010trg.1_5'Flank|EXOC5_uc010trh.1_5'Flank|MUDENG_uc001xcu.3_Missense_Mutation_p.E12D|MUDENG_uc010tri.1_5'UTR|MUDENG_uc010trj.1_5'UTR	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	12					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1														0.324786	104.010273	107.197441	38	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57736068	57736068	10377	14	A	T	T	T	24	2	MUDENG	3	3
ARID4A	5926	broad.mit.edu	37	14	58820404	58820404	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:58820404G>A	uc001xdp.2	+	c.1684G>A	c.(1684-1686)GAA>AAA	p.E562K	ARID4A_uc001xdo.2_Missense_Mutation_p.E562K|ARID4A_uc001xdq.2_Missense_Mutation_p.E562K|ARID4A_uc010apg.1_Missense_Mutation_p.E240K	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	562					chromatin assembly or disassembly|negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromatin|transcriptional repressor complex	chromatin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			ovary(3)|lung(1)	4														0.490909	80.019095	80.023153	27	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58820404	58820404	934	14	G	A	A	A	585	45	ARID4A	2	2
DACT1	51339	broad.mit.edu	37	14	59112838	59112838	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59112838G>A	uc001xdw.2	+	c.1497G>A	c.(1495-1497)GAG>GAA	p.E499E	DACT1_uc010trv.1_Silent_p.E218E|DACT1_uc001xdx.2_Silent_p.E462E|DACT1_uc010trw.1_Silent_p.E218E	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	499					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.364238	158.491106	160.936106	55	96	KEEP	---	---	---	---	capture		Silent	SNP	59112838	59112838	4388	14	G	A	A	A	425	33	DACT1	2	2
C14orf39	317761	broad.mit.edu	37	14	60903733	60903733	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:60903733C>A	uc001xez.3	-	c.1594G>T	c.(1594-1596)GGC>TGC	p.G532C	C14orf39_uc010apo.2_Missense_Mutation_p.G243C	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	532										ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0448)										0.409091	108.682998	109.318566	36	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60903733	60903733	1822	14	C	A	A	A	273	21	C14orf39	2	2
RDH11	51109	broad.mit.edu	37	14	68159752	68159752	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:68159752C>T	uc001xjv.3	-	c.92G>A	c.(91-93)GGG>GAG	p.G31E	RDH11_uc001xjw.3_Missense_Mutation_p.G31E|RDH11_uc001xjx.3_Missense_Mutation_p.G31E	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	31	Cytoplasmic (Potential).				oxidation-reduction process|retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)									0.27027	27.432405	29.194602	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68159752	68159752	13659	14	C	T	T	T	286	22	RDH11	2	2
DCAF5	8816	broad.mit.edu	37	14	69529104	69529104	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69529104G>A	uc001xkp.2	-	c.1071C>T	c.(1069-1071)ATC>ATT	p.I357I	DCAF5_uc001xkq.2_Silent_p.I356I	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	357	WD 6.				protein ubiquitination	CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2														0.196262	41.703154	50.913677	21	86	KEEP	---	---	---	---	capture		Silent	SNP	69529104	69529104	4444	14	G	A	A	A	577	45	DCAF5	2	2
LTBP2	4053	broad.mit.edu	37	14	74969961	74969961	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74969961A>T	uc001xqa.2	-	c.4849T>A	c.(4849-4851)TGG>AGG	p.W1617R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1617	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)										0.410959	80.401858	80.914662	30	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74969961	74969961	9450	14	A	T	T	T	91	7	LTBP2	3	3
YLPM1	56252	broad.mit.edu	37	14	75295991	75295991	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75295991A>G	uc001xqj.3	+	c.6239A>G	c.(6238-6240)TAT>TGT	p.Y2080C	YLPM1_uc001xql.3_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)										0.329787	101.498965	103.909908	31	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75295991	75295991	18069	14	A	G	G	G	208	16	YLPM1	4	4
ZDHHC22	283576	broad.mit.edu	37	14	77605913	77605913	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77605913G>T	uc010asp.2	-	c.169C>A	c.(169-171)CTC>ATC	p.L57I		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	zinc finger, DHHC domain containing 22	57	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)								OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.25	10.391761	11.301085	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77605913	77605913	18201	14	G	T	T	T	455	35	ZDHHC22	2	2
EML5	161436	broad.mit.edu	37	14	89093342	89093342	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:89093342G>T	uc001xxg.2	-	c.4580C>A	c.(4579-4581)GCA>GAA	p.A1527E	EML5_uc001xxf.2_Missense_Mutation_p.A314E|EML5_uc001xxh.1_Missense_Mutation_p.A658E	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1519	WD 22.					cytoplasm|microtubule				ovary(3)	3														0.403226	148.61591	149.633804	50	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89093342	89093342	5292	14	G	T	T	T	598	46	EML5	2	2
TDP1	55775	broad.mit.edu	37	14	90429553	90429553	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90429553C>T	uc001xxy.2	+	c.95C>T	c.(94-96)TCT>TTT	p.S32F	TDP1_uc010atm.2_Non-coding_Transcript|TDP1_uc001xxz.2_Missense_Mutation_p.S32F|TDP1_uc010atn.2_Missense_Mutation_p.S32F|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_Non-coding_Transcript|TDP1_uc010ato.2_Missense_Mutation_p.S32F|TDP1_uc001xyc.1_Missense_Mutation_p.S32F	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	32					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)										0.477419	238.024428	238.094114	74	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90429553	90429553	16254	14	C	T	T	T	416	32	TDP1	2	2
RIN3	79890	broad.mit.edu	37	14	93142837	93142837	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93142837G>T	uc001yap.2	+	c.2353G>T	c.(2353-2355)GAT>TAT	p.D785Y	RIN3_uc010auk.2_Missense_Mutation_p.D447Y|RIN3_uc001yaq.2_Missense_Mutation_p.D710Y|RIN3_uc001yas.1_Missense_Mutation_p.D447Y	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	785	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding				0		all_cancers(154;0.0701)												0.273684	57.596822	61.991607	26	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93142837	93142837	13850	14	G	T	T	T	533	41	RIN3	2	2
CLMN	79789	broad.mit.edu	37	14	95662857	95662857	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95662857T>A	uc001yef.2	-	c.2686A>T	c.(2686-2688)AGC>TGC	p.S896C		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	896						integral to membrane	actin binding				0				Epithelial(152;0.193)										0.38843	139.897583	141.217213	47	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95662857	95662857	3680	14	T	A	A	A	689	53	CLMN	3	3
OR4M2	390538	broad.mit.edu	37	15	22369125	22369125	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22369125G>T	uc010tzu.1	+	c.550G>T	c.(550-552)GTT>TTT	p.V184F	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)										0.185379	154.43472	189.949044	71	312	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22369125	22369125	11486	15	G	T	T	T	572	44	OR4M2	2	2
CYFIP1	23191	broad.mit.edu	37	15	22955225	22955225	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22955225A>G	uc001yus.2	+	c.1619A>G	c.(1618-1620)AAG>AGG	p.K540R	CYFIP1_uc001yut.2_Missense_Mutation_p.K540R|CYFIP1_uc010aya.1_Missense_Mutation_p.K568R|CYFIP1_uc001yuu.2_5'Flank	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	540					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)	8		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)						1870				0.384615	83.960937	84.719249	25	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22955225	22955225	4302	15	A	G	G	G	39	3	CYFIP1	4	4
GABRA5	2558	broad.mit.edu	37	15	27193365	27193365	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27193365C>A	uc001zbd.1	+	c.1374C>A	c.(1372-1374)GCC>GCA	p.A458A	GABRA5_uc001zbe.1_Non-coding_Transcript	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	458					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.666667	6.551385	6.624587	2	1	KEEP	---	---	---	---	capture		Silent	SNP	27193365	27193365	6415	15	C	A	A	A	288	23	GABRA5	1	1
TJP1	7082	broad.mit.edu	37	15	30010302	30010302	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:30010302T>G	uc010azl.2	-	c.3861A>C	c.(3859-3861)AAA>AAC	p.K1287N	TJP1_uc001zcq.2_Missense_Mutation_p.K1223N|TJP1_uc001zcr.2_Missense_Mutation_p.K1299N|TJP1_uc001zcs.2_Missense_Mutation_p.K1219N	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1299					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)								0.801047	582.291093	598.402926	153	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30010302	30010302	16458	15	T	G	G	G	777	60	TJP1	4	4
CHRM5	1133	broad.mit.edu	37	15	34356223	34356223	+	Silent	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34356223C>G	uc001zhk.1	+	c.1305C>G	c.(1303-1305)GTC>GTG	p.V435V	CHRM5_uc001zhl.1_Silent_p.V435V	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	435	Cytoplasmic (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)									0.083333	4.061882	14.615704	5	55	KEEP	---	---	---	---	capture		Silent	SNP	34356223	34356223	3514	15	C	G	G	G	366	29	CHRM5	3	3
PGBD4	161779	broad.mit.edu	37	15	34396295	34396295	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34396295A>G	uc001zho.2	+	c.1563A>G	c.(1561-1563)GGA>GGG	p.G521G	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	521											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)										0.904762	145.287185	152.192925	38	4	KEEP	---	---	---	---	capture		Silent	SNP	34396295	34396295	12206	15	A	G	G	G	106	9	PGBD4	4	4
DISP2	85455	broad.mit.edu	37	15	40659748	40659748	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40659748G>A	uc001zlk.1	+	c.1435G>A	c.(1435-1437)GAG>AAG	p.E479K		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	479	SSD.				smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)										0.401316	177.937603	179.233557	61	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40659748	40659748	4719	15	G	A	A	A	533	41	DISP2	2	2
DUOX1	53905	broad.mit.edu	37	15	45454558	45454558	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45454558C>G	uc001zus.1	+	c.4231C>G	c.(4231-4233)CAA>GAA	p.Q1411E	DUOX1_uc001zut.1_Missense_Mutation_p.Q1411E|DUOX1_uc010bee.1_Missense_Mutation_p.Q791E	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1411	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|breast(1)	6		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)										0.7	123.841977	125.627727	35	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45454558	45454558	4985	15	C	G	G	G	273	21	DUOX1	3	3
SLC28A2	9153	broad.mit.edu	37	15	45559991	45559991	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45559991G>T	uc001zva.2	+	c.1196G>T	c.(1195-1197)CGT>CTT	p.R399L		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	399					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			ovary(4)	4		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		NSCLC(92;493 1501 26361 28917 47116)								0.666667	205.779083	207.97948	60	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45559991	45559991	15029	15	G	T	T	T	520	40	SLC28A2	1	1
VPS13C	54832	broad.mit.edu	37	15	62209737	62209737	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:62209737C>T	uc002agz.2	-	c.7858G>A	c.(7858-7860)GAA>AAA	p.E2620K	VPS13C_uc002aha.2_Missense_Mutation_p.E2577K|VPS13C_uc002ahb.1_Missense_Mutation_p.E2620K|VPS13C_uc002ahc.1_Missense_Mutation_p.E2577K|VPS13C_uc002ahd.1_5'UTR	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2620					protein localization					ovary(2)	2														0.183099	26.334856	33.027133	13	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62209737	62209737	17758	15	C	T	T	T	390	30	VPS13C	2	2
IGDCC4	57722	broad.mit.edu	37	15	65677328	65677328	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65677328C>A	uc002aou.1	-	c.3306G>T	c.(3304-3306)ACG>ACT	p.T1102T	IGDCC4_uc002aot.1_Silent_p.T690T	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	1102	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2												OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.402235	227.369002	228.863601	72	107	KEEP	---	---	---	---	capture		Silent	SNP	65677328	65677328	7870	15	C	A	A	A	340	27	IGDCC4	1	1
ISLR2	57611	broad.mit.edu	37	15	74425680	74425680	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74425680G>T	uc002axd.2	+	c.585G>T	c.(583-585)TGG>TGT	p.W195C	ISLR2_uc002axe.2_Missense_Mutation_p.W195C|ISLR2_uc010bjg.2_Missense_Mutation_p.W195C|ISLR2_uc010bjf.2_Missense_Mutation_p.W195C	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	195	Extracellular (Potential).|LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0														0.427673	192.934177	193.666028	68	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74425680	74425680	8163	15	G	T	T	T	559	43	ISLR2	2	2
ISLR	3671	broad.mit.edu	37	15	74467991	74467991	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74467991C>A	uc002axg.1	+	c.792C>A	c.(790-792)GCC>GCA	p.A264A	ISLR_uc002axh.1_Silent_p.A264A	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	264	Ig-like.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)	2														0.431507	177.98918	178.588411	63	83	KEEP	---	---	---	---	capture		Silent	SNP	74467991	74467991	8162	15	C	A	A	A	275	22	ISLR	2	2
SEMA7A	8482	broad.mit.edu	37	15	74703902	74703902	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74703902G>A	uc002axv.2	-	c.1572C>T	c.(1570-1572)TCC>TCT	p.S524S	SEMA7A_uc010ulk.1_Silent_p.S359S|SEMA7A_uc010ull.1_Silent_p.S510S	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	524					axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2														0.442857	93.108925	93.308893	31	39	KEEP	---	---	---	---	capture		Silent	SNP	74703902	74703902	14529	15	G	A	A	A	496	39	SEMA7A	1	1
EFTUD1	79631	broad.mit.edu	37	15	82422766	82422766	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:82422766T>A	uc002bgt.1	-	c.3311A>T	c.(3310-3312)GAA>GTA	p.E1104V	EFTUD1_uc002bgs.1_Missense_Mutation_p.E475V|EFTUD1_uc002bgu.1_Missense_Mutation_p.E1053V	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	1104							GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1														0.39604	105.265939	106.224216	40	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82422766	82422766	5149	15	T	A	A	A	806	62	EFTUD1	3	3
FAM154B	283726	broad.mit.edu	37	15	82575200	82575200	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:82575200G>A	uc002bgv.2	+	c.994G>A	c.(994-996)GAG>AAG	p.E332K	FAM154B_uc010unr.1_Missense_Mutation_p.E317K|FAM154B_uc010uns.1_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	332											0														0.212121	33.711333	38.768882	14	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82575200	82575200	5662	15	G	A	A	A	429	33	FAM154B	2	2
RHCG	51458	broad.mit.edu	37	15	90030080	90030080	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90030080C>A	uc002bnz.2	-	c.321G>T	c.(319-321)CAG>CAT	p.Q107H	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_De_novo_Start_InFrame	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	107	Extracellular (Potential).				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)													0.485714	51.171629	51.177919	17	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90030080	90030080	13801	15	C	A	A	A	311	24	RHCG	2	2
CHD2	1106	broad.mit.edu	37	15	93492225	93492225	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:93492225C>G	uc002bsp.2	+	c.1421C>G	c.(1420-1422)CCT>CGT	p.P474R	CHD2_uc002bsn.2_Missense_Mutation_p.P474R|CHD2_uc002bso.1_Missense_Mutation_p.P474R|CHD2_uc010urb.1_Missense_Mutation_p.P487R	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	474					chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding			ovary(1)	1	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)											0.489362	294.188735	294.207412	92	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93492225	93492225	3459	15	C	G	G	G	312	24	CHD2	3	3
PRM2	5620	broad.mit.edu	37	16	11370155	11370155	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:11370155C>A	uc002dau.1	-	c.73G>T	c.(73-75)GAG>TAG	p.E25*	C16orf75_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank|PRM2_uc010bus.1_Nonsense_Mutation_p.E25*	NM_002762	NP_002753	P04554	PRM2_HUMAN	protamine 2	25					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding				0														0.058252	-9.639797	11.436189	6	97	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11370155	11370155	12976	16	C	A	A	A	416	32	PRM2	5	2
BAIAP3	8938	broad.mit.edu	37	16	1394604	1394604	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1394604A>G	uc002clk.1	+	c.1767A>G	c.(1765-1767)CCA>CCG	p.P589P	BAIAP3_uc002clj.2_Silent_p.P571P|BAIAP3_uc010uuz.1_Silent_p.P554P|BAIAP3_uc010uva.1_Silent_p.P526P|BAIAP3_uc010uvc.1_Silent_p.P518P	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	589					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)												0.392971	357.271328	360.402063	123	190	KEEP	---	---	---	---	capture		Silent	SNP	1394604	1394604	1325	16	A	G	G	G	80	7	BAIAP3	4	4
ABCC1	4363	broad.mit.edu	37	16	16130398	16130398	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:16130398G>A	uc010bvi.2	+	c.747G>A	c.(745-747)ACG>ACA	p.T249T	ABCC1_uc010bvj.2_Silent_p.T249T|ABCC1_uc010bvk.2_Silent_p.T249T|ABCC1_uc010bvl.2_Silent_p.T249T|ABCC1_uc010bvm.2_Silent_p.T249T|ABCC1_uc002del.3_Silent_p.T133T|ABCC1_uc010bvn.2_Silent_p.T112T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	249	Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)									0.357798	111.393868	113.335402	39	70	KEEP	---	---	---	---	capture		Silent	SNP	16130398	16130398	50	16	G	A	A	A	509	40	ABCC1	1	1
SMG1	23049	broad.mit.edu	37	16	18864947	18864947	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18864947T>G	uc002dfm.2	-	c.4726A>C	c.(4726-4728)ACG>CCG	p.T1576P	SMG1_uc010bwb.2_Missense_Mutation_p.T1436P|SMG1_uc010bwa.2_Missense_Mutation_p.T307P	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1576	FAT.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.4	20.0476	20.178618	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18864947	18864947	15293	16	T	G	G	G	741	57	SMG1	4	4
GP2	2813	broad.mit.edu	37	16	20329700	20329700	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20329700G>A	uc002dgv.2	-	c.1069C>T	c.(1069-1071)CTC>TTC	p.L357F	GP2_uc002dgw.2_Missense_Mutation_p.L354F|GP2_uc002dgx.2_Missense_Mutation_p.L210F|GP2_uc002dgy.2_Missense_Mutation_p.L207F	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	357	ZP.					anchored to membrane|extracellular region|plasma membrane				ovary(3)	3														0.410256	303.171537	304.812938	96	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20329700	20329700	6856	16	G	A	A	A	455	35	GP2	2	2
GFER	2671	broad.mit.edu	37	16	2035896	2035896	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2035896C>T	uc002cob.2	+	c.485C>T	c.(484-486)ACC>ATC	p.T162I	GFER_uc002coc.2_Missense_Mutation_p.T87I	NM_005262	NP_005253	P55789	ALR_HUMAN	erv1-like growth factor	162	ERV/ALR sulfhydryl oxidase.				cell proliferation|oxidation-reduction process|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity				0														0.346939	139.114931	142.139338	51	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2035896	2035896	6606	16	C	T	T	T	234	18	GFER	2	2
UMOD	7369	broad.mit.edu	37	16	20359605	20359605	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20359605C>A	uc002dhb.2	-	c.1012G>T	c.(1012-1014)GAC>TAC	p.D338Y	UMOD_uc002dgz.2_Missense_Mutation_p.D305Y|UMOD_uc002dha.2_Missense_Mutation_p.D305Y	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	305					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)	1														0.410714	188.122645	189.297264	69	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20359605	20359605	17537	16	C	A	A	A	390	30	UMOD	2	2
IGSF6	10261	broad.mit.edu	37	16	21654460	21654460	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21654460G>T	uc002djg.1	-	c.601C>A	c.(601-603)CGT>AGT	p.R201S	METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron	NM_005849	NP_005840	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6 precursor	201	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0				GBM - Glioblastoma multiforme(48;0.066)										0.333333	57.083023	58.557552	20	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21654460	21654460	7904	16	G	T	T	T	494	38	IGSF6	1	1
ABCA3	21	broad.mit.edu	37	16	2333253	2333253	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2333253G>A	uc002cpy.1	-	c.3969C>T	c.(3967-3969)CTC>CTT	p.L1323L	ABCA3_uc010bsk.1_Silent_p.L1265L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1323	Helical; (Potential).				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|breast(3)|central_nervous_system(3)	10		Ovarian(90;0.17)								701				0.518519	77.239571	77.253307	28	26	KEEP	---	---	---	---	capture		Silent	SNP	2333253	2333253	34	16	G	A	A	A	574	45	ABCA3	2	2
SRRM2	23524	broad.mit.edu	37	16	2815031	2815031	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2815031C>T	uc002crk.2	+	c.4502C>T	c.(4501-4503)TCA>TTA	p.S1501L	SRRM2_uc002crj.1_Missense_Mutation_p.S1405L|SRRM2_uc002crl.1_Missense_Mutation_p.S1501L|SRRM2_uc010bsu.1_Missense_Mutation_p.S1405L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1501	Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.406349	363.868404	366.300225	128	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2815031	2815031	15683	16	C	T	T	T	377	29	SRRM2	2	2
IL27	246778	broad.mit.edu	37	16	28515337	28515337	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28515337A>G	uc002dqc.2	-	c.66T>C	c.(64-66)GTT>GTC	p.V22V		NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	22					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0														0.447761	101.645284	101.804006	30	37	KEEP	---	---	---	---	capture		Silent	SNP	28515337	28515337	7981	16	A	G	G	G	106	9	IL27	4	4
PRSS21	10942	broad.mit.edu	37	16	2871586	2871586	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2871586C>T	uc002crt.2	+	c.925C>T	c.(925-927)CCA>TCA	p.P309S	PRSS21_uc002crs.2_Missense_Mutation_p.P307S|PRSS21_uc002crr.2_Missense_Mutation_p.P295S	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	309					proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.372727	129.082881	130.633879	41	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2871586	2871586	13068	16	C	T	T	T	286	22	PRSS21	2	2
SH2B1	25970	broad.mit.edu	37	16	28883956	28883956	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28883956C>T	uc002dri.2	+	c.1827C>T	c.(1825-1827)ATC>ATT	p.I609I	SH2B1_uc010vdc.1_Silent_p.I299I|SH2B1_uc002drj.2_Silent_p.I609I|SH2B1_uc002drk.2_Silent_p.I609I|SH2B1_uc002drl.2_Silent_p.I609I|SH2B1_uc010vdd.1_Silent_p.I273I|SH2B1_uc010vde.1_Silent_p.I609I|SH2B1_uc002drm.2_Silent_p.I609I	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	609	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2														0.490566	157.418293	157.425667	52	54	KEEP	---	---	---	---	capture		Silent	SNP	28883956	28883956	14718	16	C	T	T	T	382	30	SH2B1	2	2
ZNF689	115509	broad.mit.edu	37	16	30616690	30616690	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30616690C>T	uc002dyx.2	-	c.398G>A	c.(397-399)CGG>CAG	p.R133Q	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)											0.267361	207.752324	221.823598	77	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30616690	30616690	18689	16	C	T	T	T	299	23	ZNF689	1	1
MMP25	64386	broad.mit.edu	37	16	3108841	3108841	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3108841C>G	uc002cth.2	+	c.1431C>G	c.(1429-1431)TTC>TTG	p.F477L		NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	477	Hemopexin-like 4.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)								0.5	17.775146	17.775146	5	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3108841	3108841	10053	16	C	G	G	G	415	32	MMP25	3	3
ITGAD	3681	broad.mit.edu	37	16	31421741	31421741	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31421741G>A	uc010cap.1	+	c.1109G>A	c.(1108-1110)GGG>GAG	p.G370E	ITGAD_uc002ebv.1_Missense_Mutation_p.G370E	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	370	Extracellular (Potential).|FG-GAP 3.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.352941	153.308803	156.22439	54	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31421741	31421741	8188	16	G	A	A	A	559	43	ITGAD	2	2
OR2C1	4993	broad.mit.edu	37	16	3406108	3406108	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3406108T>A	uc002cuw.1	+	c.168T>A	c.(166-168)CAT>CAA	p.H56Q		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	56	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.410256	342.168467	344.083127	112	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3406108	3406108	11398	16	T	A	A	A	634	49	OR2C1	3	3
ADCY9	115	broad.mit.edu	37	16	4164582	4164582	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4164582G>A	uc002cvx.2	-	c.862C>T	c.(862-864)CAC>TAC	p.H288Y		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	288	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)	5														0.414286	83.252566	83.703818	29	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4164582	4164582	302	16	G	A	A	A	611	47	ADCY9	2	2
MYLK3	91807	broad.mit.edu	37	16	46781676	46781676	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46781676C>T	uc002eei.3	-	c.430G>A	c.(430-432)GGG>AGG	p.G144R	MYLK3_uc010vge.1_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	144					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|protein phosphorylation|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)								207				0.421053	144.390229	145.007612	48	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46781676	46781676	10453	16	C	T	T	T	286	22	MYLK3	2	2
DNAJA2	10294	broad.mit.edu	37	16	46992959	46992959	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46992959C>A	uc002eeo.2	-	c.1003G>T	c.(1003-1005)GTG>TTG	p.V335L	DNAJA2_uc002eep.2_Missense_Mutation_p.V252L	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	335					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)												0.476923	99.316565	99.346961	31	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46992959	46992959	4795	16	C	A	A	A	221	17	DNAJA2	2	2
ABCC12	94160	broad.mit.edu	37	16	48119591	48119591	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48119591C>A	uc002efc.1	-	c.3741G>T	c.(3739-3741)CAG>CAT	p.Q1247H	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	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	1247	ABC transporter 2.					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)												0.400943	244.918776	246.741852	85	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48119591	48119591	53	16	C	A	A	A	311	24	ABCC12	2	2
RBL2	5934	broad.mit.edu	37	16	53513070	53513070	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:53513070C>A	uc002ehi.3	+	c.2708C>A	c.(2707-2709)ACA>AAA	p.T903K	RBL2_uc002ehj.2_Missense_Mutation_p.T613K|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	903	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)	4										265				0.112903	8.578166	17.749666	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53513070	53513070	13571	16	C	A	A	A	221	17	RBL2	2	2
RAB11FIP3	9727	broad.mit.edu	37	16	538915	538915	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:538915G>T	uc002chf.2	+	c.1180G>T	c.(1180-1182)GGT>TGT	p.G394C	RAB11FIP3_uc010uuf.1_Missense_Mutation_p.G98C|RAB11FIP3_uc010uug.1_Missense_Mutation_p.G84C	NM_014700	NP_055515	O75154	RFIP3_HUMAN	rab11-family interacting protein 3 isoform 1	394					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		Hepatocellular(16;0.0218)				Melanoma(160;2366 2595 4474 8099)								0.316667	53.701316	55.495892	19	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	538915	538915	13354	16	G	T	T	T	507	39	RAB11FIP3	1	1
GPR97	222487	broad.mit.edu	37	16	57713163	57713163	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57713163G>T	uc002emh.2	+	c.567G>T	c.(565-567)ATG>ATT	p.M189I	GPR97_uc010vhv.1_Missense_Mutation_p.M69I|GPR97_uc010cdd.2_Non-coding_Transcript|GPR97_uc010cde.2_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	189	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1														0.468354	217.406015	217.545655	74	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57713163	57713163	6996	16	G	T	T	T	598	46	GPR97	2	2
CDH11	1009	broad.mit.edu	37	16	65032652	65032652	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:65032652G>T	uc002eoi.2	-	c.336C>A	c.(334-336)GCC>GCA	p.A112A	CDH11_uc010cdn.2_Non-coding_Transcript|CDH11_uc002eoj.2_Silent_p.A112A|CDH11_uc010vin.1_5'UTR|CDH11_uc010vio.1_Silent_p.A112A	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	112	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(7)|ovary(2)	9		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)						239	TSP Lung(24;0.17)			0.393258	103.703053	104.591745	35	54	KEEP	---	---	---	---	capture		Silent	SNP	65032652	65032652	3226	16	G	T	T	T	600	47	CDH11	2	2
CA7	766	broad.mit.edu	37	16	66880940	66880940	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66880940G>T	uc002eqi.2	+	c.48G>T	c.(46-48)TCG>TCT	p.S16S	CA7_uc002eqj.2_5'UTR	NM_005182	NP_005173	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	16					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)										0.340909	44.712925	45.696512	15	29	KEEP	---	---	---	---	capture		Silent	SNP	66880940	66880940	2638	16	G	T	T	T	483	38	CA7	1	1
NFAT5	10725	broad.mit.edu	37	16	69726378	69726378	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:69726378G>A	uc002exl.1	+	c.2650G>A	c.(2650-2652)GAA>AAA	p.E884K	NFAT5_uc002exi.2_Missense_Mutation_p.E790K|NFAT5_uc002exj.1_Missense_Mutation_p.E790K|NFAT5_uc002exk.1_Missense_Mutation_p.E790K|NFAT5_uc002exn.1_Missense_Mutation_p.E883K|NFAT5_uc002exm.1_Missense_Mutation_p.E866K|NFAT5_uc002exo.1_5'Flank	NM_138713	NP_619727	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform b	866					excretion|regulation of transcription, DNA-dependent|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0														0.251908	77.803375	85.134944	33	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69726378	69726378	10760	16	G	A	A	A	585	45	NFAT5	2	2
WWP2	11060	broad.mit.edu	37	16	69833148	69833148	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:69833148G>T	uc002exu.1	+	c.290G>T	c.(289-291)GGC>GTC	p.G97V	WWP2_uc002ext.2_Missense_Mutation_p.G97V|WWP2_uc002exv.1_Missense_Mutation_p.G97V	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	97	C2.				entry of virus into host cell|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			skin(1)	1												OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.402174	108.352632	109.123646	37	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69833148	69833148	17990	16	G	T	T	T	546	42	WWP2	2	2
VAC14	55697	broad.mit.edu	37	16	70819711	70819711	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70819711T>A	uc002ezm.2	-	c.317A>T	c.(316-318)GAC>GTC	p.D106V	VAC14_uc010cfw.2_5'UTR|VAC14_uc002ezn.2_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	106	HEAT 2.				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)	1		Ovarian(137;0.0699)												0.307692	10.094425	10.52345	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70819711	70819711	17676	16	T	A	A	A	754	58	VAC14	3	3
CNTNAP4	85445	broad.mit.edu	37	16	76555172	76555172	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76555172T>A	uc002fex.1	+	c.2510T>A	c.(2509-2511)TTG>TAG	p.L837*	CNTNAP4_uc002feu.1_Nonsense_Mutation_p.L834*|CNTNAP4_uc002fev.1_Nonsense_Mutation_p.L698*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.L761*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	834	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.465839	234.810182	234.973748	75	86	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76555172	76555172	3787	16	T	A	A	A	819	63	CNTNAP4	5	3
PKD1L2	114780	broad.mit.edu	37	16	81198331	81198331	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81198331G>C	uc002fgh.1	-	c.3263C>G	c.(3262-3264)GCC>GGC	p.A1088G	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1088	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.458716	166.733365	166.89409	50	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81198331	81198331	12389	16	G	C	C	C	546	42	PKD1L2	3	3
PKD1L2	114780	broad.mit.edu	37	16	81232343	81232343	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81232343G>C	uc002fgh.1	-	c.1467C>G	c.(1465-1467)CTC>CTG	p.L489L	PKD1L2_uc002fgj.2_Silent_p.L489L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	489	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.5	133.851561	133.851561	38	38	KEEP	---	---	---	---	capture		Silent	SNP	81232343	81232343	12389	16	G	C	C	C	574	45	PKD1L2	3	3
MPHOSPH6	10200	broad.mit.edu	37	16	82182933	82182933	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:82182933C>A	uc002fgw.2	-	c.331G>T	c.(331-333)GAT>TAT	p.D111Y		NM_005792	NP_005783	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	111					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding				0														0.421622	217.578261	218.577954	78	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82182933	82182933	10118	16	C	A	A	A	416	32	MPHOSPH6	2	2
MBTPS1	8720	broad.mit.edu	37	16	84099360	84099360	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84099360G>A	uc002fhi.2	-	c.2366C>T	c.(2365-2367)TCA>TTA	p.S789L	MBTPS1_uc002fhh.2_Missense_Mutation_p.S293L	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	789	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2														0.483871	135.163896	135.18525	45	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84099360	84099360	9750	16	G	A	A	A	585	45	MBTPS1	2	2
PRR25	388199	broad.mit.edu	37	16	855729	855729	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:855729C>G	uc010uut.1	+	c.287C>G	c.(286-288)ACA>AGA	p.T96R		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	96										large_intestine(1)	1														0.227273	10.517459	12.075128	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	855729	855729	13046	16	C	G	G	G	221	17	PRR25	3	3
GINS2	51659	broad.mit.edu	37	16	85721135	85721135	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:85721135G>T	uc002fja.2	-	c.136C>A	c.(136-138)CTG>ATG	p.L46M	GINS2_uc002fjb.2_Missense_Mutation_p.L46M	NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	DNA replication complex GINS protein PSF2	46					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding				0														0.37963	117.842672	119.217652	41	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85721135	85721135	6656	16	G	T	T	T	451	35	GINS2	2	2
CA5A	763	broad.mit.edu	37	16	87935551	87935551	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:87935551C>A	uc002fkn.1	-	c.585G>T	c.(583-585)AGG>AGT	p.R195S		NM_001739	NP_001730	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial precursor	195					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0513)										0.462366	365.969644	366.308006	129	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87935551	87935551	2635	16	C	A	A	A	337	26	CA5A	2	2
USP7	7874	broad.mit.edu	37	16	8988689	8988689	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:8988689C>A	uc002czl.2	-	c.3063G>T	c.(3061-3063)ATG>ATT	p.M1021I	USP7_uc002czj.2_Non-coding_Transcript|USP7_uc010uyj.1_Missense_Mutation_p.M922I|USP7_uc002czk.2_Missense_Mutation_p.M1005I	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	1021					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3														0.328125	173.462536	178.490356	63	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8988689	8988689	17652	16	C	A	A	A	377	29	USP7	2	2
MYH13	8735	broad.mit.edu	37	17	10243657	10243657	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10243657C>A	uc002gmk.1	-	c.1956G>T	c.(1954-1956)TCG>TCT	p.S652S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	652	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.555556	48.426931	48.499361	15	12	KEEP	---	---	---	---	capture		Silent	SNP	10243657	10243657	10427	17	C	A	A	A	288	23	MYH13	1	1
SCO1	6341	broad.mit.edu	37	17	10600752	10600752	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10600752G>C	uc002gmr.3	-	c.73C>G	c.(73-75)CGC>GGC	p.R25G	SCO1_uc002gms.3_Missense_Mutation_p.R25G|C17orf48_uc002gmt.2_5'Flank|C17orf48_uc002gmu.2_5'Flank|C17orf48_uc002gmv.2_5'Flank	NM_004589	NP_004580	O75880	SCO1_HUMAN	cytochrome oxidase deficient homolog 1	25					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding				0						Melanoma(128;591 1731 19711 31891 44645)								0.5	10.625449	10.625449	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10600752	10600752	14413	17	G	C	C	C	481	37	SCO1	3	3
PRPF8	10594	broad.mit.edu	37	17	1563786	1563786	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:1563786C>A	uc002fte.2	-	c.4725G>T	c.(4723-4725)CAG>CAT	p.Q1575H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1575					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			ovary(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)										0.801802	861.093784	889.339087	267	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1563786	1563786	13018	17	C	A	A	A	415	32	PRPF8	2	2
PIGL	9487	broad.mit.edu	37	17	16203251	16203251	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16203251A>G	uc002gpv.2	+	c.385A>G	c.(385-387)AGA>GGA	p.R129G	PIGL_uc010vwd.1_Missense_Mutation_p.R129G	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	129	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)										0.690141	363.406536	367.981543	98	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16203251	16203251	12315	17	A	G	G	G	88	7	PIGL	4	4
FLCN	201163	broad.mit.edu	37	17	17127348	17127348	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17127348C>T	uc002gra.3	-	c.506G>A	c.(505-507)TGG>TAG	p.W169*	PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Nonsense_Mutation_p.W169*	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	169					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3										287				0.785714	68.760398	70.868666	22	6	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	17127348	17127348	6159	17	C	T	T	T	273	21	FLCN	5	2
TOM1L2	146691	broad.mit.edu	37	17	17764829	17764829	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17764829A>G	uc002grz.3	-	c.1239T>C	c.(1237-1239)CTT>CTC	p.L413L	TOM1L2_uc002gry.3_Silent_p.L363L|TOM1L2_uc010vwy.1_Silent_p.L360L|TOM1L2_uc010cpr.2_Silent_p.L368L|TOM1L2_uc010vwz.1_Silent_p.L265L|TOM1L2_uc010vxa.1_Silent_p.L315L|TOM1L2_uc002grv.3_Silent_p.L146L	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	413					intracellular protein transport	intracellular					0	all_neural(463;0.228)					Melanoma(192;2505 2909 14455 25269)								0.621622	79.131723	79.611537	23	14	KEEP	---	---	---	---	capture		Silent	SNP	17764829	17764829	16894	17	A	G	G	G	54	5	TOM1L2	4	4
EVI2A	2123	broad.mit.edu	37	17	29645376	29645376	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29645376C>G	uc002hgl.2	-	c.725G>C	c.(724-726)AGG>ACG	p.R242T	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgm.2_Missense_Mutation_p.R219T	NM_001003927	NP_001003927	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A isoform 1	219	Cytoplasmic (Potential).					integral to membrane	transmembrane receptor activity			ovary(1)|breast(1)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)										0.326531	46.574942	47.88724	16	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29645376	29645376	5480	17	C	G	G	G	312	24	EVI2A	3	3
CDK12	51755	broad.mit.edu	37	17	37657618	37657618	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37657618A>C	uc010cvv.2	+	c.2535A>C	c.(2533-2535)GAA>GAC	p.E845D	CDK12_uc010wef.1_Missense_Mutation_p.E844D|CDK12_uc002hrw.3_Missense_Mutation_p.E845D	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	845	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity|RNA polymerase II transcription factor activity			ovary(8)|lung(2)|large_intestine(1)	11										277	TCGA Ovarian(9;0.13)			0.44186	238.17662	238.683366	76	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37657618	37657618	3257	17	A	C	C	C	37	3	CDK12	4	4
TMEM99	147184	broad.mit.edu	37	17	38990925	38990925	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38990925C>G	uc002hvj.1	+	c.157C>G	c.(157-159)CAA>GAA	p.Q53E		NM_145274	NP_660317	Q8N816	TMM99_HUMAN	transmembrane protein 99 precursor	53						integral to membrane					0		Breast(137;0.000301)												0.741935	268.922485	273.855556	69	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38990925	38990925	16766	17	C	G	G	G	377	29	TMEM99	3	3
KRT35	3886	broad.mit.edu	37	17	39636931	39636931	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39636931A>T	uc002hws.2	-	c.419T>A	c.(418-420)ATG>AAG	p.M140K		NM_002280	NP_002271	Q92764	KRT35_HUMAN	keratin 35	140	Rod.|Linker 1.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			ovary(1)	1		Breast(137;0.000286)												0.386555	141.927584	143.267799	46	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39636931	39636931	8787	17	A	T	T	T	104	8	KRT35	3	3
DNAJC7	7266	broad.mit.edu	37	17	40142374	40142374	+	Silent	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40142374T>C	uc002hyo.2	-	c.507A>G	c.(505-507)CTA>CTG	p.L169L	DNAJC7_uc010cxu.2_Silent_p.L113L|DNAJC7_uc010cxv.2_Silent_p.L113L|DNAJC7_uc010wgb.1_Silent_p.L113L|DNAJC7_uc010wgc.1_Silent_p.L27L|DNAJC7_uc002hyp.2_Silent_p.L113L|DNAJC7_uc010cxw.2_Non-coding_Transcript	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	169	TPR 4.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				Colon(63;618 1117 8600 10857 19751)								0.666667	40.856059	41.225481	10	5	KEEP	---	---	---	---	capture		Silent	SNP	40142374	40142374	4837	17	T	C	C	C	678	53	DNAJC7	4	4
STAT3	6774	broad.mit.edu	37	17	40491337	40491337	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40491337C>T	uc002hzl.1	-	c.463G>A	c.(463-465)GTG>ATG	p.V155M	STAT3_uc002hzk.1_Missense_Mutation_p.V155M|STAT3_uc002hzm.1_Missense_Mutation_p.V155M|STAT3_uc010wgh.1_Missense_Mutation_p.V57M|STAT3_uc002hzn.1_Missense_Mutation_p.V155M	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	155	Essential for nuclear import.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)						793				0.237288	62.296574	69.702838	28	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40491337	40491337	15786	17	C	T	T	T	260	20	STAT3	2	2
FZD2	2535	broad.mit.edu	37	17	42635929	42635929	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42635929G>T	uc002igx.1	+	c.873G>T	c.(871-873)TCG>TCT	p.S291S		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	291	Helical; Name=2; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of transcription regulator activity|positive regulation of transcription, DNA-dependent|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)	2		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)										0.417722	94.666183	95.130384	33	46	KEEP	---	---	---	---	capture		Silent	SNP	42635929	42635929	6381	17	G	T	T	T	496	39	FZD2	1	1
EFTUD2	9343	broad.mit.edu	37	17	42971873	42971873	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42971873T>C	uc002ihn.2	-	c.17A>G	c.(16-18)TAT>TGT	p.Y6C	EFTUD2_uc010wje.1_Intron|EFTUD2_uc010wjf.1_Missense_Mutation_p.Y6C	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	6					nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				Ovarian(10;65 485 10258 29980 30707)								0.418719	297.673018	298.834733	85	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42971873	42971873	5150	17	T	C	C	C	637	49	EFTUD2	4	4
SH3D20	201175	broad.mit.edu	37	17	43506963	43506963	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43506963C>A	uc010dal.2	-	c.683G>T	c.(682-684)GGA>GTA	p.G228V		NM_174919	NP_777579			SH3 domain containing 20												0														0.8	12.403413	12.820187	4	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43506963	43506963	14741	17	C	A	A	A	390	30	SH3D20	2	2
OSBPL7	114881	broad.mit.edu	37	17	45891033	45891033	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45891033G>C	uc002ilx.1	-	c.1519C>G	c.(1519-1521)CTG>GTG	p.L507V	OSBPL7_uc002ilw.1_Missense_Mutation_p.L69V	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	507					lipid transport		lipid binding				0														0.230769	25.853744	28.444803	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45891033	45891033	11693	17	G	C	C	C	425	33	OSBPL7	3	3
OSBPL7	114881	broad.mit.edu	37	17	45891105	45891105	+	Missense_Mutation	SNP	G	C	C	rs116932923	by1000genomes	TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45891105G>C	uc002ilx.1	-	c.1447C>G	c.(1447-1449)CTG>GTG	p.L483V	OSBPL7_uc002ilw.1_Missense_Mutation_p.L45V	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	483					lipid transport		lipid binding				0														0.263158	43.105355	45.9933	15	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45891105	45891105	11693	17	G	C	C	C	425	33	OSBPL7	3	3
SKAP1	8631	broad.mit.edu	37	17	46474063	46474064	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46474063_46474064CC>AG	uc002ini.1	-	c.130_131GG>CT	c.(130-132)GGC>CTC	p.G44L	SKAP1_uc002inj.1_Missense_Mutation_p.G44L|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.G44L	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	44					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding|SH3/SH2 adaptor activity|transcription activator activity				0														0.378205	170.675335	172.708764	59	97	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	46474063	46474064	14850	17	CC	AG	AG	AG	338	26	SKAP1	2	2
HOXB7	3217	broad.mit.edu	37	17	46685385	46685385	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46685385T>C	uc002inv.2	-	c.473A>G	c.(472-474)TAC>TGC	p.Y158C		NM_004502	NP_004493	P09629	HXB7_HUMAN	homeobox B7	158	Homeobox.				regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.495238	188.403031	188.405006	52	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46685385	46685385	7598	17	T	C	C	C	741	57	HOXB7	4	4
KIF2B	84643	broad.mit.edu	37	17	51900958	51900958	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51900958G>T	uc002iua.2	+	c.564G>T	c.(562-564)ATG>ATT	p.M188I		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	188					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														0.109375	10.843278	30.213945	14	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51900958	51900958	8609	17	G	T	T	T	598	46	KIF2B	2	2
OR4D2	124538	broad.mit.edu	37	17	56247335	56247335	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56247335T>G	uc010wnp.1	+	c.319T>G	c.(319-321)TTG>GTG	p.L107V		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.566964	466.969221	467.847918	127	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56247335	56247335	11463	17	T	G	G	G	829	64	OR4D2	4	4
RNF43	54894	broad.mit.edu	37	17	56435120	56435120	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56435120T>C	uc002iwf.2	-	c.2017A>G	c.(2017-2019)ACT>GCT	p.T673A	RNF43_uc010wnv.1_Missense_Mutation_p.T632A|RNF43_uc002iwh.3_Missense_Mutation_p.T673A|RNF43_uc002iwg.3_Missense_Mutation_p.T673A|RNF43_uc010dcw.2_Missense_Mutation_p.T546A	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	673	Pro-rich.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.349206	373.694228	379.997059	110	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56435120	56435120	13974	17	T	C	C	C	780	60	RNF43	4	4
PRR11	55771	broad.mit.edu	37	17	57247240	57247240	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57247240A>T	uc002ixf.1	+	c.127A>T	c.(127-129)AGA>TGA	p.R43*	PRR11_uc002ixg.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	43										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													0.258929	72.905506	78.817231	29	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57247240	57247240	13026	17	A	T	T	T	36	3	PRR11	5	3
MED13	9969	broad.mit.edu	37	17	60130024	60130024	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60130024C>T	uc002izo.2	-	c.344G>A	c.(343-345)TGC>TAC	p.C115Y		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	115					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			large_intestine(1)|ovary(1)	2														0.446078	258.881254	259.400481	91	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60130024	60130024	9819	17	C	T	T	T	325	25	MED13	2	2
ACE	1636	broad.mit.edu	37	17	61557706	61557706	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61557706G>T	uc002jau.1	+	c.664G>T	c.(664-666)GAC>TAC	p.D222Y	ACE_uc010wpi.1_Missense_Mutation_p.D222Y|ACE_uc010ddu.1_Missense_Mutation_p.D39Y	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	222	Extracellular (Potential).|Peptidase M2 1.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)									0.470588	114.176115	114.241303	40	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61557706	61557706	137	17	G	T	T	T	429	33	ACE	2	2
GH2	2689	broad.mit.edu	37	17	61958249	61958249	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61958249C>T	uc002jcl.1	-	c.339G>A	c.(337-339)CTG>CTA	p.L113L	GH2_uc002jcj.2_Silent_p.L113L|CSH2_uc002jck.2_Intron|GH2_uc002jcm.1_Silent_p.L113L|GH2_uc002jcn.1_Silent_p.L98L|GH2_uc002jco.1_Silent_p.L113L	NM_022557	NP_072051	P01242	SOM2_HUMAN	growth hormone 2 isoform 2	113						extracellular region	hormone activity			pancreas(1)	1														0.483516	134.997675	135.018884	44	47	KEEP	---	---	---	---	capture		Silent	SNP	61958249	61958249	6636	17	C	T	T	T	262	21	GH2	2	2
ABCA8	10351	broad.mit.edu	37	17	66928445	66928445	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66928445G>T	uc002jhq.2	-	c.781C>A	c.(781-783)CGG>AGG	p.R261R	ABCA8_uc002jhp.2_Silent_p.R261R|ABCA8_uc010wqq.1_Silent_p.R261R|ABCA8_uc010wqr.1_Silent_p.R200R|ABCA8_uc002jhr.2_Silent_p.R261R|ABCA8_uc002jhs.2_Silent_p.R261R|ABCA8_uc002jht.2_Silent_p.R261R	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	261						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.515625	111.577363	111.590967	33	31	KEEP	---	---	---	---	capture		Silent	SNP	66928445	66928445	39	17	G	T	T	T	480	37	ABCA8	1	1
ABCA9	10350	broad.mit.edu	37	17	66979867	66979867	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66979867C>A	uc002jhu.2	-	c.4623G>T	c.(4621-4623)CAG>CAT	p.Q1541H	ABCA9_uc010dez.2_Missense_Mutation_p.Q1503H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1541					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|central_nervous_system(1)	5	Breast(10;1.47e-12)													0.163043	55.127333	74.987963	30	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66979867	66979867	40	17	C	A	A	A	311	24	ABCA9	2	2
MAP2K6	5608	broad.mit.edu	37	17	67513012	67513012	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67513012G>T	uc002jij.2	+	c.100G>T	c.(100-102)GAC>TAC	p.D34Y	MAP2K6_uc002jii.2_Missense_Mutation_p.D34Y|MAP2K6_uc002jik.2_Missense_Mutation_p.D64Y	NM_002758	NP_002749	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	34					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)|lung(1)|pancreas(1)	3	Breast(10;6.05e-10)									234				0.478873	303.230801	303.313811	102	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67513012	67513012	9624	17	G	T	T	T	429	33	MAP2K6	2	2
FAM104A	84923	broad.mit.edu	37	17	71228443	71228443	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71228443C>A	uc002jjj.3	-	c.3G>T	c.(1-3)ATG>ATT	p.M1I	FAM104A_uc002jji.3_Missense_Mutation_p.M1I|C17orf80_uc010wqu.1_5'UTR|C17orf80_uc010dfj.2_5'UTR|C17orf80_uc002jjk.1_5'Flank|C17orf80_uc002jjm.3_5'Flank|C17orf80_uc002jjl.3_5'Flank	NM_001098832	NP_001092302	Q969W3	F104A_HUMAN	hypothetical protein LOC84923 isoform 1	1											0			LUSC - Lung squamous cell carcinoma(166;0.197)											0.26087	13.149073	14.333973	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71228443	71228443	5582	17	C	A	A	A	273	21	FAM104A	2	2
DNAI2	64446	broad.mit.edu	37	17	72285814	72285814	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72285814C>A	uc002jkf.2	+	c.549C>A	c.(547-549)TCC>TCA	p.S183S	DNAI2_uc002jkg.2_Non-coding_Transcript|DNAI2_uc010dfp.2_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	183	WD 1.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3														0.385135	165.734215	167.448037	57	91	KEEP	---	---	---	---	capture		Silent	SNP	72285814	72285814	4793	17	C	A	A	A	301	24	DNAI2	2	2
LSMD1	84316	broad.mit.edu	37	17	7760052	7760052	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7760052G>C	uc002gja.2	-	c.519C>G	c.(517-519)CTC>CTG	p.L173L	LSMD1_uc002giz.2_Silent_p.L125L|CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank	NM_032356	NP_115732	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	125						cytoplasm|nucleus				ovary(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				GBM(66;626 1401 29924 42527)						OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.196721	65.332747	75.783134	24	98	KEEP	---	---	---	---	capture		Silent	SNP	7760052	7760052	9438	17	G	C	C	C	418	33	LSMD1	3	3
KCNAB3	9196	broad.mit.edu	37	17	7830684	7830686	+	Missense_Mutation	TNP	CGG	AAA	AAA			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7830684_7830686CGG>AAA	uc002gjm.1	-	c.380_382CCG>TTT	c.(379-384)ACCGCC>ATTTCC	p.127_128TA>IS	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related	127_128					oxidation-reduction process	cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(1)	1		Prostate(122;0.157)												0.514851	159.196919	159.216105	52	49	KEEP	---	---	---	---	capture		Missense_Mutation	TNP	7830684	7830686	8316	17	CGG	AAA	AAA	AAA	351	27	KCNAB3	1	1
PDE6G	5148	broad.mit.edu	37	17	79620334	79620334	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79620334A>G	uc002kay.3	-	c.2T>C	c.(1-3)ATG>ACG	p.M1T	PDE6G_uc002kaz.3_Intron	NM_002602	NP_002593	P18545	CNRG_HUMAN	phosphodiesterase 6G	1					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity				0	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GBM(189;38 2147 16440 40945 46567)								0.948276	208.396369	213.806684	55	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79620334	79620334	12070	17	A	G	G	G	104	8	PDE6G	4	4
FASN	2194	broad.mit.edu	37	17	80039971	80039971	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80039971C>T	uc002kdu.2	-	c.6077G>A	c.(6076-6078)CGT>CAT	p.R2026H	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2026	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	Colon(59;314 1043 11189 28578 32273)				1201				0.868852	162.26241	170.325392	53	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80039971	80039971	5919	17	C	T	T	T	247	19	FASN	1	1
CABYR	26256	broad.mit.edu	37	18	21736412	21736412	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21736412T>C	uc002kux.2	+	c.947T>C	c.(946-948)ATA>ACA	p.I316T	CABYR_uc010xbb.1_Missense_Mutation_p.I218T|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Missense_Mutation_p.I298T|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_Non-coding_Transcript	NM_012189	NP_036321	O75952	CABYR_HUMAN	calcium-binding tyrosine	316					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding				0	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)													0.474227	167.55341	167.608713	46	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21736412	21736412	2652	18	T	C	C	C	637	49	CABYR	4	4
CDH2	1000	broad.mit.edu	37	18	25532316	25532316	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25532316T>A	uc002kwg.2	-	c.2522A>T	c.(2521-2523)AAA>ATA	p.K841I	CDH2_uc010xbn.1_Missense_Mutation_p.K810I	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	841	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264		OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.275862	38.67205	41.297747	16	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25532316	25532316	3234	18	T	A	A	A	832	64	CDH2	3	3
ASXL3	80816	broad.mit.edu	37	18	31325273	31325273	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31325273A>T	uc010dmg.1	+	c.5461A>T	c.(5461-5463)AGA>TGA	p.R1821*	ASXL3_uc002kxq.2_Nonsense_Mutation_p.R1528*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.406114	267.62028	269.386909	93	136	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31325273	31325273	1087	18	A	T	T	T	140	11	ASXL3	5	3
NOL4	8715	broad.mit.edu	37	18	31432983	31432983	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31432983G>A	uc010dmi.2	-	c.1740C>T	c.(1738-1740)AGC>AGT	p.S580S	NOL4_uc010xbs.1_Silent_p.S295S|NOL4_uc002kxr.3_Silent_p.S352S|NOL4_uc010xbt.1_Silent_p.S506S|NOL4_uc010dmh.2_Silent_p.S442S|NOL4_uc010xbu.1_Silent_p.S516S|NOL4_uc002kxt.3_Silent_p.S478S	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	580						nucleolus	RNA binding			ovary(3)	3														0.391304	51.337355	51.814113	18	28	KEEP	---	---	---	---	capture		Silent	SNP	31432983	31432983	10927	18	G	A	A	A	594	46	NOL4	2	2
DTNA	1837	broad.mit.edu	37	18	32400876	32400876	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:32400876T>C	uc010dmn.1	+	c.998T>C	c.(997-999)ATC>ACC	p.I333T	DTNA_uc002kxu.2_Missense_Mutation_p.I333T|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.I333T|DTNA_uc002kxw.2_Missense_Mutation_p.I333T|DTNA_uc002kxx.2_Missense_Mutation_p.I333T|DTNA_uc010dmj.2_Missense_Mutation_p.I333T|DTNA_uc002kxz.2_Missense_Mutation_p.I333T|DTNA_uc002kxy.2_Missense_Mutation_p.I333T|DTNA_uc010dmk.1_Non-coding_Transcript|DTNA_uc010dml.2_Missense_Mutation_p.I333T|DTNA_uc002kyb.3_Missense_Mutation_p.I333T|DTNA_uc010dmm.2_Missense_Mutation_p.I333T|DTNA_uc010xby.1_Missense_Mutation_p.I83T|DTNA_uc010dmo.2_Missense_Mutation_p.I15T|DTNA_uc002kyd.3_Missense_Mutation_p.I15T|DTNA_uc010xbz.1_Missense_Mutation_p.I15T|DTNA_uc010xca.1_Missense_Mutation_p.I15T|DTNA_uc002kye.2_Missense_Mutation_p.I15T	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	333					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0														0.377778	53.28464	53.901788	17	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32400876	32400876	4973	18	T	C	C	C	650	50	DTNA	4	4
KIAA1328	57536	broad.mit.edu	37	18	34753035	34753035	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:34753035C>A	uc002kzz.2	+	c.1514C>A	c.(1513-1515)ACC>AAC	p.T505N	KIAA1328_uc002lab.2_Missense_Mutation_p.T257N|KIAA1328_uc002lac.1_Missense_Mutation_p.T364N|KIAA1328_uc010dnc.1_Non-coding_Transcript	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	505										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)										0.396226	119.52774	120.526362	42	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34753035	34753035	8534	18	C	A	A	A	234	18	KIAA1328	2	2
SLC14A2	8170	broad.mit.edu	37	18	43247870	43247870	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43247870C>A	uc010dnj.2	+	c.1790C>A	c.(1789-1791)CCC>CAC	p.P597H	SLC14A2_uc002lbe.2_Missense_Mutation_p.P597H	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	597						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2														0.411255	267.746207	269.3428	95	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43247870	43247870	14892	18	C	A	A	A	286	22	SLC14A2	2	2
RAB27B	5874	broad.mit.edu	37	18	52546615	52546615	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:52546615G>C	uc002lfr.2	+	c.169G>C	c.(169-171)GGA>CGA	p.G57R		NM_004163	NP_004154	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	57					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity				0				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)										0.389313	170.898266	172.303603	51	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52546615	52546615	13374	18	G	C	C	C	455	35	RAB27B	3	3
ALPK2	115701	broad.mit.edu	37	18	56205026	56205026	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56205026C>G	uc002lhj.3	-	c.2393G>C	c.(2392-2394)AGA>ACA	p.R798T	ALPK2_uc002lhk.1_Missense_Mutation_p.R129T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	798					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.456522	230.914279	231.1412	63	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56205026	56205026	548	18	C	G	G	G	416	32	ALPK2	3	3
PIGN	23556	broad.mit.edu	37	18	59739950	59739950	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59739950G>A	uc002lii.3	-	c.2628C>T	c.(2626-2628)TTC>TTT	p.F876F	PIGN_uc002lij.3_Silent_p.F876F	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	876	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)												0.5	13.603997	13.603997	4	4	KEEP	---	---	---	---	capture		Silent	SNP	59739950	59739950	12317	18	G	A	A	A	425	33	PIGN	2	2
KIAA1468	57614	broad.mit.edu	37	18	59919955	59919955	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59919955G>A	uc002lil.2	+	c.1792G>A	c.(1792-1794)GAA>AAA	p.E598K	KIAA1468_uc002lik.1_Missense_Mutation_p.E598K|KIAA1468_uc010xel.1_Missense_Mutation_p.E598K|KIAA1468_uc002lim.2_Missense_Mutation_p.E242K	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	598							binding			ovary(2)|breast(2)|large_intestine(1)	5		Colorectal(73;0.186)												0.064516	-3.154416	9.070155	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59919955	59919955	8545	18	G	A	A	A	429	33	KIAA1468	2	2
SERPINB11	89778	broad.mit.edu	37	18	61390292	61390292	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61390292A>T	uc002ljk.3	+	c.838A>T	c.(838-840)AGA>TGA	p.R280*	SERPINB11_uc010xes.1_Nonsense_Mutation_p.R105*|SERPINB11_uc010dqd.2_Nonsense_Mutation_p.R166*|SERPINB11_uc002ljj.3_Nonsense_Mutation_p.R166*|SERPINB11_uc010dqe.2_Nonsense_Mutation_p.R79*|SERPINB11_uc010dqf.2_Nonsense_Mutation_p.R78*	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	280					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				Ovarian(27;496 784 5942 8975 23930)								0.1875	6.514926	7.978494	3	13	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61390292	61390292	14586	18	A	T	T	T	36	3	SERPINB11	5	3
SOCS6	9306	broad.mit.edu	37	18	67992312	67992312	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67992312G>T	uc002lkr.1	+	c.408G>T	c.(406-408)CCG>CCT	p.P136P	SOCS6_uc010dqq.2_Silent_p.P136P	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	136					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)	1		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				Melanoma(84;1024 1361 24382 36583 42651)								0.569444	132.535612	132.832124	41	31	KEEP	---	---	---	---	capture		Silent	SNP	67992312	67992312	15418	18	G	T	T	T	509	40	SOCS6	1	1
LAMA1	284217	broad.mit.edu	37	18	7009334	7009334	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7009334T>A	uc002knm.2	-	c.3905A>T	c.(3904-3906)GAA>GTA	p.E1302V	LAMA1_uc010wzj.1_Missense_Mutation_p.E778V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1302	Laminin IV type A 2.				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				0.849558	311.563446	324.794331	96	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7009334	7009334	8928	18	T	A	A	A	806	62	LAMA1	3	3
NETO1	81832	broad.mit.edu	37	18	70417719	70417719	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70417719G>C	uc002lkw.2	-	c.1119C>G	c.(1117-1119)GTC>GTG	p.V373V	NETO1_uc002lkx.1_Silent_p.V372V|NETO1_uc002lky.1_Silent_p.V373V	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	373	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.174603	25.982118	32.280916	11	52	KEEP	---	---	---	---	capture		Silent	SNP	70417719	70417719	10738	18	G	C	C	C	522	41	NETO1	3	3
NETO1	81832	broad.mit.edu	37	18	70526213	70526213	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70526213C>A	uc002lkw.2	-	c.317G>T	c.(316-318)GGA>GTA	p.G106V	NETO1_uc002lkx.1_Missense_Mutation_p.G105V|NETO1_uc002lky.1_Missense_Mutation_p.G106V|NETO1_uc002lkz.2_Missense_Mutation_p.G105V	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	106	CUB 1.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.489796	69.392119	69.396712	24	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70526213	70526213	10738	18	C	A	A	A	390	30	NETO1	2	2
ZNF236	7776	broad.mit.edu	37	18	74639891	74639891	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74639891G>T	uc002lmi.2	+	c.4417G>T	c.(4417-4419)GAC>TAC	p.D1473Y	ZNF236_uc002lmj.2_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1473					cellular response to glucose stimulus|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)										0.43617	120.557976	120.892447	41	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74639891	74639891	18380	18	G	T	T	T	429	33	ZNF236	2	2
PTPRM	5797	broad.mit.edu	37	18	7774262	7774262	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7774262G>T	uc010dkv.2	+	c.189G>T	c.(187-189)ATG>ATT	p.M63I	PTPRM_uc002knn.3_Missense_Mutation_p.M63I	NM_001105244	NP_001098714	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	63	MAM.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(1)|central_nervous_system(1)	5		Colorectal(10;0.234)												0.663043	199.993215	202.153393	61	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7774262	7774262	13263	18	G	T	T	T	598	46	PTPRM	2	2
KRI1	65095	broad.mit.edu	37	19	10668695	10668695	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10668695C>T	uc002moy.1	-	c.1330G>A	c.(1330-1332)GGA>AGA	p.G444R	KRI1_uc002mow.1_Missense_Mutation_p.G63R|KRI1_uc002mox.1_Missense_Mutation_p.G440R	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	444										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)											0.368421	39.759488	40.3297	14	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10668695	10668695	8759	19	C	T	T	T	286	22	KRI1	2	2
ASNA1	439	broad.mit.edu	37	19	12858371	12858371	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12858371G>T	uc002muv.2	+	c.880G>T	c.(880-882)GCC>TCC	p.A294S	ASNA1_uc002muw.2_Missense_Mutation_p.A293S	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	294					cellular metal ion homeostasis	endoplasmic reticulum|nucleolus|soluble fraction	arsenite transmembrane transporter activity|ATP binding|hydrolase activity|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)									0.272727	29.488321	31.532443	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12858371	12858371	1066	19	G	T	T	T	546	42	ASNA1	2	2
FARSA	2193	broad.mit.edu	37	19	13035003	13035003	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13035003C>T	uc002mvs.2	-	c.1350G>A	c.(1348-1350)GAG>GAA	p.E450E	FARSA_uc002mvt.2_Non-coding_Transcript|FARSA_uc010xmv.1_Silent_p.E419E|FARSA_uc010dyy.1_Silent_p.E371E	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	450					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)									0.401235	187.230921	188.615812	65	97	KEEP	---	---	---	---	capture		Silent	SNP	13035003	13035003	5915	19	C	T	T	T	415	32	FARSA	2	2
SLC1A6	6511	broad.mit.edu	37	19	15083604	15083604	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15083604C>T	uc002naa.1	-	c.119G>A	c.(118-120)CGC>CAC	p.R40H	SLC1A6_uc010dzu.1_Missense_Mutation_p.R40H|SLC1A6_uc010xod.1_Silent_p.A44A|SLC1A6_uc002nab.2_Missense_Mutation_p.R40H|SLC1A6_uc002nac.2_Missense_Mutation_p.R40H|SLC1A6_uc002nad.1_Missense_Mutation_p.R40H	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	40	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)	5					L-Glutamic Acid(DB00142)									0.147059	7.449178	11.527444	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15083604	15083604	14932	19	C	T	T	T	351	27	SLC1A6	1	1
BRD4	23476	broad.mit.edu	37	19	15350202	15350203	+	Splice_Site_DNP	DNP	CC	AA	AA			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15350202_15350203CC>AA	uc002nar.2	-	c.3576_splice	c.e17+1	p.K1192_splice		NM_058243	NP_490597			bromodomain-containing protein 4 isoform long						interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)							269				0.336066	114.702366	117.620258	41	81	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	15350202	15350203	1535	19	CC	AA	AA	AA	234	18	BRD4	5	2
TPM4	7171	broad.mit.edu	37	19	16204497	16204497	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16204497G>C	uc002ndi.2	+	c.706G>C	c.(706-708)GAG>CAG	p.E236Q	TPM4_uc002ndj.2_Missense_Mutation_p.E200Q|TPM4_uc002ndk.1_Missense_Mutation_p.E110Q	NM_001145160	NP_001138632	P67936	TPM4_HUMAN	tropomyosin 4 isoform 1	200	By similarity.				cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	soft_tissue(10)|haematopoietic_and_lymphoid_tissue(2)|breast(1)	13										49				0.245	151.277621	163.12059	49	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16204497	16204497	16952	19	G	C	C	C	585	45	TPM4	3	3
RAB8A	4218	broad.mit.edu	37	19	16238849	16238849	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16238849A>G	uc002ndn.3	+	c.428A>G	c.(427-429)TAT>TGT	p.Y143C	RAB8A_uc010xpc.1_Missense_Mutation_p.Y143C|RAB8A_uc002ndo.3_Silent_p.L21L	NM_005370	NP_005361	P61006	RAB8A_HUMAN	mel transforming oncogene	143					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|plasma membrane	GTP binding|protein binding			skin(1)	1														0.409836	85.993267	86.417718	25	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16238849	16238849	13415	19	A	G	G	G	208	16	RAB8A	4	4
ZNF714	148206	broad.mit.edu	37	19	21300980	21300980	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21300980G>T	uc002npo.3	+	c.1513G>T	c.(1513-1515)GGC>TGC	p.G505C	ZNF714_uc002npl.2_Missense_Mutation_p.G350C|ZNF714_uc010ecp.1_Missense_Mutation_p.G456C|ZNF714_uc002npn.2_Non-coding_Transcript	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.533333	49.602592	49.631784	16	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21300980	21300980	18714	19	G	T	T	T	559	43	ZNF714	2	2
ZNF257	113835	broad.mit.edu	37	19	22271507	22271507	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22271507G>A	uc010ecx.2	+	c.955G>A	c.(955-957)GAA>AAA	p.E319K	ZNF257_uc010ecy.2_Missense_Mutation_p.E287K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	319	C2H2-type 6.				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)												0.095238	1.966004	8.874979	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22271507	22271507	18391	19	G	A	A	A	585	45	ZNF257	2	2
C19orf2	8725	broad.mit.edu	37	19	30502071	30502071	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30502071G>A	uc002nsr.2	+	c.1106G>A	c.(1105-1107)CGA>CAA	p.R369Q	C19orf2_uc002nsq.2_Missense_Mutation_p.R351Q|C19orf2_uc002nss.2_Missense_Mutation_p.R329Q|C19orf2_uc002nst.2_Missense_Mutation_p.R293Q	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	369					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		Melanoma(75;661 1306 1472 28422 37948)								0.398601	174.355302	175.638339	57	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30502071	30502071	1973	19	G	A	A	A	481	37	C19orf2	1	1
ZNF536	9745	broad.mit.edu	37	19	30934685	30934685	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30934685G>C	uc002nsu.1	+	c.216G>C	c.(214-216)ATG>ATC	p.M72I	ZNF536_uc010edd.1_Missense_Mutation_p.M72I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.323077	69.05272	70.858802	21	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30934685	30934685	18568	19	G	C	C	C	585	45	ZNF536	3	3
ZNF536	9745	broad.mit.edu	37	19	30935922	30935922	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30935922A>T	uc002nsu.1	+	c.1453A>T	c.(1453-1455)AAG>TAG	p.K485*	ZNF536_uc010edd.1_Nonsense_Mutation_p.K485*	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.42268	115.0404	115.549519	41	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30935922	30935922	18568	19	A	T	T	T	65	5	ZNF536	5	3
ZNF536	9745	broad.mit.edu	37	19	30936282	30936282	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30936282C>A	uc002nsu.1	+	c.1813C>A	c.(1813-1815)CGG>AGG	p.R605R	ZNF536_uc010edd.1_Silent_p.R605R	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.454545	231.964829	232.282982	80	96	KEEP	---	---	---	---	capture		Silent	SNP	30936282	30936282	18568	19	C	A	A	A	399	31	ZNF536	1	1
SLC7A10	56301	broad.mit.edu	37	19	33716539	33716539	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33716539G>A	uc002num.2	-	c.71C>T	c.(70-72)CCA>CTA	p.P24L	SLC7A10_uc010xrq.1_Silent_p.P65P	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	solute carrier family 7, member 10	24					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(110;0.137)													0.5	29.574703	29.574703	9	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33716539	33716539	15190	19	G	A	A	A	611	47	SLC7A10	2	2
SCGBL	284402	broad.mit.edu	37	19	35085417	35085417	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35085417C>A	uc002nvn.2	-	c.52G>T	c.(52-54)GTC>TTC	p.V18F		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	secretoglobin-like precursor	18						extracellular region	binding				0														0.444444	77.087904	77.233647	24	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35085417	35085417	14384	19	C	A	A	A	247	19	SCGBL	1	1
SUPT5H	6829	broad.mit.edu	37	19	39955488	39955488	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39955488C>G	uc002olo.3	+	c.675C>G	c.(673-675)ATC>ATG	p.I225M	SUPT5H_uc002olp.3_Missense_Mutation_p.I225M|SUPT5H_uc002olq.3_Missense_Mutation_p.I221M|SUPT5H_uc002oln.3_Missense_Mutation_p.I225M|SUPT5H_uc002olr.3_Missense_Mutation_p.I225M|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	225	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|negative transcription elongation factor activity|positive transcription elongation factor activity|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)											0.365854	104.23625	105.530699	30	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39955488	39955488	15919	19	C	G	G	G	408	32	SUPT5H	3	3
C19orf47	126526	broad.mit.edu	37	19	40827997	40827997	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40827997T>C	uc002oni.3	-	c.1061A>G	c.(1060-1062)AAG>AGG	p.K354R	C19orf47_uc002ong.2_Missense_Mutation_p.K213R|C19orf47_uc002onh.2_Missense_Mutation_p.K287R	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	354										ovary(1)	1			Lung(22;0.000636)											0.6	64.454487	64.716659	18	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40827997	40827997	1994	19	T	C	C	C	728	56	C19orf47	4	4
MAP2K2	5605	broad.mit.edu	37	19	4099265	4099265	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4099265C>T	uc002lzk.2	-	c.853G>A	c.(853-855)GAC>AAC	p.D285N	MAP2K2_uc002lzj.2_Missense_Mutation_p.D95N	NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	285	Protein kinase.|Pro-rich.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)						1015				0.666667	12.201185	12.348589	4	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4099265	4099265	9620	19	C	T	T	T	403	31	MAP2K2	1	1
SHD	56961	broad.mit.edu	37	19	4288274	4288274	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4288274G>C	uc002lzw.2	+	c.751G>C	c.(751-753)GAG>CAG	p.E251Q	SHD_uc010dtu.2_Intron	NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming	251	SH2.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)										0.16	29.070188	37.309611	12	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4288274	4288274	14767	19	G	C	C	C	429	33	SHD	3	3
ZFP112	7771	broad.mit.edu	37	19	44834051	44834051	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44834051C>A	uc010xwy.1	-	c.328G>T	c.(328-330)GTA>TTA	p.V110L	ZFP112_uc010ejj.2_Missense_Mutation_p.V93L|ZFP112_uc002ozc.3_Missense_Mutation_p.V87L|ZFP112_uc010xwz.1_Missense_Mutation_p.V92L	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 2	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3						Melanoma(53;975 1202 7512 15993 27273)								0.695652	53.707826	54.492809	16	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44834051	44834051	18226	19	C	A	A	A	260	20	ZFP112	2	2
ODF3L2	284451	broad.mit.edu	37	19	474645	474645	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:474645A>T	uc002lor.2	-	c.103T>A	c.(103-105)TGT>AGT	p.C35S	ODF3L2_uc010drp.2_Missense_Mutation_p.C35S	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	35											0														0.5	25.099656	25.099656	8	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	474645	474645	11237	19	A	T	T	T	91	7	ODF3L2	3	3
RUVBL2	10856	broad.mit.edu	37	19	49518853	49518853	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49518853A>G	uc002plr.1	+	c.1276A>G	c.(1276-1278)ATC>GTC	p.I426V	RUVBL2_uc002plq.1_Silent_p.T337T|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.I381V|RUVBL2_uc010yac.1_Missense_Mutation_p.I381V	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	426					DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)										0.759259	138.701745	142.017353	41	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49518853	49518853	14233	19	A	G	G	G	104	8	RUVBL2	4	4
SLC6A16	28968	broad.mit.edu	37	19	49793479	49793479	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49793479G>T	uc002pmz.2	-	c.2112C>A	c.(2110-2112)CCC>CCA	p.P704P	SLC6A16_uc002pna.2_3'UTR	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	704	Cytoplasmic (Potential).					integral to plasma membrane|intracellular	neurotransmitter:sodium symporter activity			ovary(1)|kidney(1)	2		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)										0.688525	268.031238	271.891058	84	38	KEEP	---	---	---	---	capture		Silent	SNP	49793479	49793479	15176	19	G	T	T	T	548	43	SLC6A16	2	2
JOSD2	126119	broad.mit.edu	37	19	51013625	51013625	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51013625C>G	uc002psn.1	-	c.64G>C	c.(64-66)GAG>CAG	p.E22Q	JOSD2_uc002pso.1_Missense_Mutation_p.E22Q|JOSD2_uc002psp.1_Missense_Mutation_p.E22Q|JOSD2_uc002psq.1_Missense_Mutation_p.E22Q	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	22	Josephin.				protein deubiquitination		ubiquitin-specific protease activity				0		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)										0.4375	96.793312	97.010849	28	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51013625	51013625	8263	19	C	G	G	G	390	30	JOSD2	3	3
SHANK1	50944	broad.mit.edu	37	19	51219627	51219627	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51219627G>T	uc002psx.1	-	c.364C>A	c.(364-366)CCG>ACG	p.P122T		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	122					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)										0.725	93.484537	95.30586	29	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51219627	51219627	14756	19	G	T	T	T	572	44	SHANK1	2	2
ZNF761	388561	broad.mit.edu	37	19	53958024	53958024	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53958024A>T	uc010eqp.2	+	c.263A>T	c.(262-264)CAG>CTG	p.Q88L	ZNF761_uc010ydy.1_Missense_Mutation_p.Q34L|ZNF761_uc002qbt.1_Missense_Mutation_p.Q34L	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)										0.594595	74.556351	74.845644	22	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53958024	53958024	18734	19	A	T	T	T	91	7	ZNF761	3	3
SAPS1	22870	broad.mit.edu	37	19	55743224	55743224	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55743224C>A	uc002qjv.2	-	c.2438G>T	c.(2437-2439)GGC>GTC	p.G813V	TMEM86B_uc002qju.2_5'Flank|SAPS1_uc002qjw.3_Missense_Mutation_p.G751V	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	751	Pro-rich.				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)										0.75	7.209176	7.428531	3	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55743224	55743224	14317	19	C	A	A	A	338	26	SAPS1	2	2
ZNF71	58491	broad.mit.edu	37	19	57133862	57133862	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57133862G>T	uc002qnm.3	+	c.1207G>T	c.(1207-1209)GTG>TTG	p.V403L		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	403	C2H2-type 10.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)										0.8125	91.674262	94.616311	26	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57133862	57133862	18710	19	G	T	T	T	520	40	ZNF71	1	1
PEG3	5178	broad.mit.edu	37	19	57325536	57325537	+	Nonsense_Mutation	DNP	GG	CA	CA			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57325536_57325537GG>CA	uc002qnu.2	-	c.4273_4274CC>TG	c.(4273-4275)CCA>TGA	p.P1425*	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.P1396*|PEG3_uc002qnv.2_Nonsense_Mutation_p.P1425*|PEG3_uc002qnw.2_Nonsense_Mutation_p.P1301*|PEG3_uc002qnx.2_Nonsense_Mutation_p.P1299*|PEG3_uc010etr.2_Nonsense_Mutation_p.P1425*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1425	1-2.|Glu-rich.|4 X 5 AA repeat of P-X-G-E-A.				apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.785714	81.272043	83.405678	22	6	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	57325536	57325537	12141	19	GG	CA	CA	CA	611	47	PEG3	5	3
ZSCAN4	201516	broad.mit.edu	37	19	58189694	58189694	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58189694C>T	uc002qpu.2	+	c.723C>T	c.(721-723)TAC>TAT	p.Y241Y		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	241					regulation of transcription, DNA-dependent|telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.816327	127.824142	132.422658	40	9	KEEP	---	---	---	---	capture		Silent	SNP	58189694	58189694	18841	19	C	T	T	T	220	17	ZSCAN4	2	2
ZNF274	10782	broad.mit.edu	37	19	58718164	58718164	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58718164G>A	uc002qrq.1	+	c.334G>A	c.(334-336)GAG>AAG	p.E112K	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Non-coding_Transcript|ZNF274_uc002qrr.1_Missense_Mutation_p.E80K|ZNF274_uc002qrs.1_Missense_Mutation_p.E7K|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	112					regulation of transcription, DNA-dependent|viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)										0.434783	28.244842	28.330439	10	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58718164	58718164	18401	19	G	A	A	A	585	45	ZNF274	2	2
TUBB4	10382	broad.mit.edu	37	19	6501606	6501606	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6501606C>T	uc002mfg.1	-	c.86G>A	c.(85-87)GGC>GAC	p.G29D	TUBB4_uc002mff.1_5'UTR	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	29					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)										0.54902	178.407285	178.620387	56	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6501606	6501606	17313	19	C	T	T	T	338	26	TUBB4	2	2
EMR1	2015	broad.mit.edu	37	19	6908736	6908736	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6908736G>T	uc002mfw.2	+	c.1075G>T	c.(1075-1077)GTT>TTT	p.V359F	EMR1_uc010dvc.2_Missense_Mutation_p.V359F|EMR1_uc010dvb.2_Missense_Mutation_p.V307F|EMR1_uc010xji.1_Missense_Mutation_p.V218F|EMR1_uc010xjj.1_Missense_Mutation_p.V182F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	359	Ser/Thr-rich.|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.2	42.126198	49.240762	17	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6908736	6908736	5297	19	G	T	T	T	520	40	EMR1	1	1
EMR1	2015	broad.mit.edu	37	19	6908779	6908779	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6908779T>C	uc002mfw.2	+	c.1118T>C	c.(1117-1119)CTG>CCG	p.L373P	EMR1_uc010dvc.2_Missense_Mutation_p.L373P|EMR1_uc010dvb.2_Missense_Mutation_p.L321P|EMR1_uc010xji.1_Missense_Mutation_p.L232P|EMR1_uc010xjj.1_Missense_Mutation_p.L196P	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	373	Ser/Thr-rich.|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.583333	158.081854	158.590044	49	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6908779	6908779	5297	19	T	C	C	C	715	55	EMR1	4	4
LRRC8E	80131	broad.mit.edu	37	19	7963616	7963616	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7963616A>C	uc002mir.2	+	c.209A>C	c.(208-210)CAG>CCG	p.Q70P		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	70						integral to membrane				lung(1)|pancreas(1)	2														0.239796	113.729348	125.843618	47	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7963616	7963616	9401	19	A	C	C	C	91	7	LRRC8E	4	4
FBN3	84467	broad.mit.edu	37	19	8138167	8138167	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8138167C>A	uc002mjf.2	-	c.7717G>T	c.(7717-7719)GCC>TCC	p.A2573S	FBN3_uc002mje.2_Missense_Mutation_p.A369S	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2573	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.5625	54.450487	54.558854	18	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8138167	8138167	5940	19	C	A	A	A	325	25	FBN3	2	2
FBN3	84467	broad.mit.edu	37	19	8148210	8148210	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8148210C>T	uc002mjf.2	-	c.7134G>A	c.(7132-7134)GAG>GAA	p.E2378E	FBN3_uc002mje.2_Silent_p.E217E	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2378	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.463415	120.454956	120.548833	38	44	KEEP	---	---	---	---	capture		Silent	SNP	8148210	8148210	5940	19	C	T	T	T	259	20	FBN3	2	2
AZU1	566	broad.mit.edu	37	19	830715	830715	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:830715G>T	uc002lpz.1	+	c.368G>T	c.(367-369)CGT>CTT	p.R123L		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	123	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)										0.55	74.555558	74.642899	22	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	830715	830715	1264	19	G	T	T	T	520	40	AZU1	1	1
MUC16	94025	broad.mit.edu	37	19	9047974	9047974	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9047974G>T	uc002mkp.2	-	c.33657C>A	c.(33655-33657)ACC>ACA	p.T11219T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11221	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														0.375	34.99242	35.431243	12	20	KEEP	---	---	---	---	capture		Silent	SNP	9047974	9047974	10367	19	G	T	T	T	600	47	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9067439	9067439	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9067439G>C	uc002mkp.2	-	c.20007C>G	c.(20005-20007)ATC>ATG	p.I6669M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6671	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														0.364162	215.755564	218.572463	63	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9067439	9067439	10367	19	G	C	C	C	473	37	MUC16	3	3
DBT	1629	broad.mit.edu	37	1	100696436	100696436	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100696436C>G	uc001dta.2	-	c.286G>C	c.(286-288)GAT>CAT	p.D96H	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	96	Lipoyl-binding.				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)										0.166667	21.26857	26.325017	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100696436	100696436	4429	1	C	G	G	G	377	29	DBT	3	3
UBE4B	10277	broad.mit.edu	37	1	10197141	10197141	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10197141A>G	uc001aqs.3	+	c.2241A>G	c.(2239-2241)CCA>CCG	p.P747P	UBE4B_uc001aqr.3_Silent_p.P618P|UBE4B_uc010oai.1_Non-coding_Transcript|UBE4B_uc010oaj.1_Silent_p.P202P|UBE4B_uc001aqt.1_Silent_p.P87P	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	747					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(1)	3		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)										0.419753	203.659247	204.571842	68	94	KEEP	---	---	---	---	capture		Silent	SNP	10197141	10197141	17441	1	A	G	G	G	93	8	UBE4B	4	4
C1orf127	148345	broad.mit.edu	37	1	11008812	11008812	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11008812C>A	uc010oao.1	-	c.933G>T	c.(931-933)CAG>CAT	p.Q311H	C1orf127_uc001arr.1_Missense_Mutation_p.Q293H|C1orf127_uc001ars.1_Missense_Mutation_p.Q285H	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	311										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)										0.366667	122.157088	124.037144	44	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11008812	11008812	2061	1	C	A	A	A	363	28	C1orf127	2	2
GSTM2	2946	broad.mit.edu	37	1	110212186	110212186	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110212186C>T	uc001dyi.2	+	c.353C>T	c.(352-354)CCA>CTA	p.P118L	GSTM2_uc001dyj.2_Missense_Mutation_p.P118L|GSTM2_uc010ovt.1_Missense_Mutation_p.P118L|GSTM2_uc009wfk.2_Non-coding_Transcript	NM_000848	NP_000839	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 isoform 1	118	GST C-terminal.				glutathione metabolic process|xenobiotic catabolic process	cytoplasm	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)									0.714286	44.526869	45.389886	15	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110212186	110212186	7118	1	C	T	T	T	273	21	GSTM2	2	2
PTCHD2	57540	broad.mit.edu	37	1	11577583	11577583	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11577583G>T	uc001ash.3	+	c.1813G>T	c.(1813-1815)GTG>TTG	p.V605L	PTCHD2_uc001asi.1_Missense_Mutation_p.V605L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	605	Helical; (Potential).|SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)										0.393258	106.812022	107.697587	35	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11577583	11577583	13187	1	G	T	T	T	520	40	PTCHD2	1	1
MAD2L2	10459	broad.mit.edu	37	1	11734865	11734865	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11734865A>G	uc001asp.2	-	c.603T>C	c.(601-603)CTT>CTC	p.L201L	MAD2L2_uc009vnc.2_Silent_p.L201L|MAD2L2_uc001asq.3_Silent_p.L201L	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN	MAD2 homolog	201	Mediates interaction with ipaB.|HORMA.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of gene-specific transcription|positive regulation of peptidyl-serine phosphorylation|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding				0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.397436	106.913153	107.629803	31	47	KEEP	---	---	---	---	capture		Silent	SNP	11734865	11734865	9527	1	A	G	G	G	2	1	MAD2L2	4	4
ACAP3	116983	broad.mit.edu	37	1	1233224	1233224	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1233224C>A	uc001aeb.2	-	c.1106G>T	c.(1105-1107)AGC>ATC	p.S369I	ACAP3_uc001ady.2_Missense_Mutation_p.S99I|ACAP3_uc001aea.2_Missense_Mutation_p.S327I	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	369					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0														0.826087	57.520935	59.821589	19	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1233224	1233224	121	1	C	A	A	A	364	28	ACAP3	2	2
SEC22B	9554	broad.mit.edu	37	1	145115775	145115775	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145115775G>C	uc001eml.1	+	c.534G>C	c.(532-534)AAG>AAC	p.K178N	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	178	v-SNARE coiled-coil homology.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0														0.120968	26.331982	43.795817	15	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145115775	145115775	14475	1	G	C	C	C	425	33	SEC22B	3	3
CHD1L	9557	broad.mit.edu	37	1	146758077	146758078	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:146758077_146758078GG>AT	uc001epm.3	+	c.2121_2122GG>AT	c.(2119-2124)CTGGAT>CTATAT	p.D708Y	CHD1L_uc001epn.3_Missense_Mutation_p.D595Y|CHD1L_uc010ozo.1_Non-coding_Transcript|CHD1L_uc009wjg.2_Non-coding_Transcript|CHD1L_uc009wjh.2_Missense_Mutation_p.D614Y|CHD1L_uc010ozp.1_Missense_Mutation_p.D427Y|CHD1L_uc001epo.3_Missense_Mutation_p.D504Y|CHD1L_uc009wji.2_Missense_Mutation_p.D427Y	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	708	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)	5	all_hematologic(923;0.0487)													0.393939	177.424716	179.053932	65	100	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	146758077	146758078	3458	1	GG	AT	AT	AT	600	47	CHD1L	2	2
NBPF14	25832	broad.mit.edu	37	1	148012569	148012569	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:148012569G>A	uc001eqq.2	-	c.1390C>T	c.(1390-1392)CAG>TAG	p.Q464*	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Nonsense_Mutation_p.Q375*|NBPF14_uc010pae.1_Nonsense_Mutation_p.Q131*|NBPF14_uc010paf.1_Nonsense_Mutation_p.Q619*|NBPF14_uc010pad.1_5'Flank|NBPF14_uc001eqs.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	464	NBPF 5.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)													0.182156	106.615708	132.138995	49	220	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	148012569	148012569	10591	1	G	A	A	A	611	47	NBPF14	5	2
HIST2H2BE	8349	broad.mit.edu	37	1	149857921	149857921	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149857921G>T	uc001etc.2	-	c.270C>A	c.(268-270)ATC>ATA	p.I90I	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	90					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)											0.448598	139.126571	139.365349	48	59	KEEP	---	---	---	---	capture		Silent	SNP	149857921	149857921	7466	1	G	T	T	T	577	45	HIST2H2BE	2	2
OTUD7B	56957	broad.mit.edu	37	1	149915923	149915923	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149915923C>A	uc001etn.2	-	c.2365G>T	c.(2365-2367)GCT>TCT	p.A789S		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	789					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding				0	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)											0.359477	143.237707	145.915095	55	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149915923	149915923	11732	1	C	A	A	A	338	26	OTUD7B	2	2
TCHHL1	126637	broad.mit.edu	37	1	152057805	152057805	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152057805C>A	uc001ezo.1	-	c.2353G>T	c.(2353-2355)GAC>TAC	p.D785Y		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	785							calcium ion binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)											0.376623	158.500687	160.562269	58	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152057805	152057805	16227	1	C	A	A	A	416	32	TCHHL1	2	2
RPTN	126638	broad.mit.edu	37	1	152128437	152128437	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152128437C>A	uc001ezs.1	-	c.1138G>T	c.(1138-1140)GGT>TGT	p.G380C		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	380	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0														0.370861	990.111233	1003.407783	336	570	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152128437	152128437	14144	1	C	A	A	A	273	21	RPTN	2	2
HRNR	388697	broad.mit.edu	37	1	152187577	152187577	+	Silent	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152187577C>G	uc001ezt.1	-	c.6528G>C	c.(6526-6528)GGG>GGC	p.G2176G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2176	24.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.056537	-23.201988	35.481552	16	267	KEEP	---	---	---	---	capture		Silent	SNP	152187577	152187577	7653	1	C	G	G	G	223	18	HRNR	3	3
FLG2	388698	broad.mit.edu	37	1	152326311	152326311	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152326311C>T	uc001ezw.3	-	c.3951G>A	c.(3949-3951)CAG>CAA	p.Q1317Q		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1317							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)											0.42246	484.562687	486.529666	158	216	KEEP	---	---	---	---	capture		Silent	SNP	152326311	152326311	6161	1	C	T	T	T	415	32	FLG2	2	2
FLG2	388698	broad.mit.edu	37	1	152329486	152329486	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152329486C>G	uc001ezw.3	-	c.776G>C	c.(775-777)AGA>ACA	p.R259T		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	259	Ser-rich.|Filaggrin 1.						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)											0.105485	35.092215	71.750143	25	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152329486	152329486	6161	1	C	G	G	G	416	32	FLG2	3	3
TDRD10	126668	broad.mit.edu	37	1	154517340	154517340	+	Silent	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154517340C>G	uc009wow.2	+	c.867C>G	c.(865-867)ACC>ACG	p.T289T	TDRD10_uc001ffd.2_Silent_p.T289T|TDRD10_uc001ffe.2_Silent_p.T210T	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	289	Tudor.						nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.259615	70.174789	75.618804	27	77	KEEP	---	---	---	---	capture		Silent	SNP	154517340	154517340	16257	1	C	G	G	G	262	21	TDRD10	3	3
LMNA	4000	broad.mit.edu	37	1	156100423	156100423	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156100423G>A	uc001fni.2	+	c.372G>A	c.(370-372)GAG>GAA	p.E124E	LMNA_uc001fnf.1_Silent_p.E124E|LMNA_uc001fng.2_Silent_p.E124E|LMNA_uc001fnh.2_Silent_p.E124E|LMNA_uc009wro.1_Silent_p.E124E|LMNA_uc010pgz.1_Silent_p.E12E|LMNA_uc001fnj.2_Silent_p.E43E|LMNA_uc001fnk.2_Silent_p.E25E	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	124	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)									235		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.321429	80.829023	83.190707	27	57	KEEP	---	---	---	---	capture		Silent	SNP	156100423	156100423	9177	1	G	A	A	A	451	35	LMNA	2	2
PEAR1	375033	broad.mit.edu	37	1	156874598	156874598	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156874598C>T	uc001fqj.1	+	c.160C>T	c.(160-162)CCC>TCC	p.P54S	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	54	EMI.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.30625	124.42644	129.777686	49	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156874598	156874598	12133	1	C	T	T	T	338	26	PEAR1	2	2
ETV3L	440695	broad.mit.edu	37	1	157062682	157062682	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157062682T>C	uc001fqq.1	-	c.845A>G	c.(844-846)CAT>CGT	p.H282R		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	282	Pro-rich.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Hepatocellular(266;0.158)	Prostate(1639;0.184)												0.313253	74.937544	77.504275	26	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157062682	157062682	5473	1	T	C	C	C	663	51	ETV3L	4	4
CD5L	922	broad.mit.edu	37	1	157804200	157804200	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157804200C>A	uc001frk.3	-	c.715G>T	c.(715-717)GAA>TAA	p.E239*		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	239	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.612245	91.255597	91.795232	30	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	157804200	157804200	3155	1	C	A	A	A	377	29	CD5L	5	2
PYHIN1	149628	broad.mit.edu	37	1	158906820	158906820	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158906820A>T	uc001ftb.2	+	c.120A>T	c.(118-120)AAA>AAT	p.K40N	PYHIN1_uc001fta.3_Missense_Mutation_p.K40N|PYHIN1_uc001ftc.2_Missense_Mutation_p.K40N|PYHIN1_uc001ftd.2_Missense_Mutation_p.K40N|PYHIN1_uc001fte.2_Missense_Mutation_p.K40N	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	40	DAPIN.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.23301	57.245561	63.968673	24	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158906820	158906820	13323	1	A	T	T	T	37	3	PYHIN1	3	3
PYHIN1	149628	broad.mit.edu	37	1	158913640	158913640	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158913640G>C	uc001ftb.2	+	c.1063G>C	c.(1063-1065)GTA>CTA	p.V355L	PYHIN1_uc001ftc.2_Missense_Mutation_p.V346L|PYHIN1_uc001ftd.2_Missense_Mutation_p.V355L|PYHIN1_uc001fte.2_Missense_Mutation_p.V346L	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	355	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.532468	154.081243	154.151797	41	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158913640	158913640	13323	1	G	C	C	C	624	48	PYHIN1	3	3
PYHIN1	149628	broad.mit.edu	37	1	158913661	158913661	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158913661C>G	uc001ftb.2	+	c.1084C>G	c.(1084-1086)CAC>GAC	p.H362D	PYHIN1_uc001ftc.2_Missense_Mutation_p.H353D|PYHIN1_uc001ftd.2_Missense_Mutation_p.H362D|PYHIN1_uc001fte.2_Missense_Mutation_p.H353D	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	362	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.5625	119.404035	119.621372	36	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158913661	158913661	13323	1	C	G	G	G	273	21	PYHIN1	3	3
FCER1A	2205	broad.mit.edu	37	1	159277563	159277563	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159277563A>G	uc001ftq.2	+	c.615A>G	c.(613-615)CAA>CAG	p.Q205Q		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	205	Extracellular (Potential).					integral to plasma membrane					0	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)									0.048611	-16.280922	14.893497	7	137	KEEP	---	---	---	---	capture		Silent	SNP	159277563	159277563	6011	1	A	G	G	G	50	4	FCER1A	4	4
LY9	4063	broad.mit.edu	37	1	160783548	160783548	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160783548C>A	uc001fwu.2	+	c.577C>A	c.(577-579)CCA>ACA	p.P193T	LY9_uc010pjs.1_Missense_Mutation_p.P193T|LY9_uc001fwv.2_Missense_Mutation_p.P193T|LY9_uc001fww.2_Missense_Mutation_p.P193T|LY9_uc001fwx.2_Missense_Mutation_p.P193T|LY9_uc001fwy.1_Missense_Mutation_p.P95T|LY9_uc001fwz.2_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	193	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.275758	239.473705	254.298484	91	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160783548	160783548	9478	1	C	A	A	A	286	22	LY9	2	2
KLHDC9	126823	broad.mit.edu	37	1	161069200	161069200	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161069200C>G	uc001fxr.2	+	c.592C>G	c.(592-594)CCT>GCT	p.P198A	KLHDC9_uc001fxq.2_5'UTR|KLHDC9_uc001fxs.2_Missense_Mutation_p.P198A	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	kelch/ankyrin repeat containing cyclin A1	198											0	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)											0.314815	172.623363	177.535658	51	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161069200	161069200	8676	1	C	G	G	G	390	30	KLHDC9	3	3
HSPB7	27129	broad.mit.edu	37	1	16342122	16342122	+	Missense_Mutation	SNP	G	C	C	rs114208608	by1000genomes	TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16342122G>C	uc001axr.2	-	c.745C>G	c.(745-747)CAT>GAT	p.H249D	HSPB7_uc001axo.2_Missense_Mutation_p.H156D|HSPB7_uc001axp.2_Missense_Mutation_p.H239D|HSPB7_uc001axq.2_Missense_Mutation_p.H248D|HSPB7_uc001axs.2_Missense_Mutation_p.H231D	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	cardiovascular heat shock protein	156					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)										0.146667	20.591158	29.577028	11	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16342122	16342122	7722	1	G	C	C	C	598	46	HSPB7	3	3
EPHA2	1969	broad.mit.edu	37	1	16462249	16462249	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16462249C>A	uc001aya.1	-	c.1329G>T	c.(1327-1329)AGG>AGT	p.R443S	EPHA2_uc010oca.1_Missense_Mutation_p.R443S	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	443	Extracellular (Potential).|Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|ephrin receptor signaling pathway|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|protein phosphorylation|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|leading edge membrane	ATP binding|ephrin receptor activity|protein binding			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)					485				0.472727	71.541123	71.576917	26	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16462249	16462249	5360	1	C	A	A	A	337	26	EPHA2	2	2
ALDH9A1	223	broad.mit.edu	37	1	165651442	165651442	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165651442T>C	uc001gdh.1	-	c.494A>G	c.(493-495)TAT>TGT	p.Y165C	ALDH9A1_uc010pky.1_Missense_Mutation_p.Y71C|ALDH9A1_uc010pkz.1_Missense_Mutation_p.Y155C|ALDH9A1_uc010pla.1_Missense_Mutation_p.Y71C	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	141					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process|oxidation-reduction process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	Ovarian(179;1583 2014 18106 33801 42447)								0.058252	-5.430307	15.629057	6	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165651442	165651442	509	1	T	C	C	C	637	49	ALDH9A1	4	4
ALDH9A1	223	broad.mit.edu	37	1	165667628	165667628	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165667628G>A	uc001gdh.1	-	c.168C>T	c.(166-168)TTC>TTT	p.F56F	ALDH9A1_uc010pky.1_5'UTR|ALDH9A1_uc010pkz.1_Intron|ALDH9A1_uc010pla.1_5'UTR	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	32					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process|oxidation-reduction process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	Ovarian(179;1583 2014 18106 33801 42447)								0.608696	36.061864	36.282366	14	9	KEEP	---	---	---	---	capture		Silent	SNP	165667628	165667628	509	1	G	A	A	A	477	37	ALDH9A1	1	1
ADCY10	55811	broad.mit.edu	37	1	167780114	167780114	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167780114G>T	uc001ger.2	-	c.4519C>A	c.(4519-4521)CCT>ACT	p.P1507T	ADCY10_uc009wvj.2_Non-coding_Transcript|ADCY10_uc009wvk.2_Missense_Mutation_p.P1415T|ADCY10_uc010plj.1_Missense_Mutation_p.P1354T	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1507					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														0.329412	77.871065	80.063748	28	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167780114	167780114	294	1	G	T	T	T	559	43	ADCY10	2	2
SELP	6403	broad.mit.edu	37	1	169572376	169572376	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169572376A>G	uc001ggi.3	-	c.1593T>C	c.(1591-1593)AGT>AGC	p.S531S	SELP_uc001ggh.2_Silent_p.S366S|SELP_uc009wvr.2_Silent_p.S531S	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	531	Extracellular (Potential).|Sushi 6.				defense response to Gram-negative bacterium|platelet activation|platelet degranulation|positive regulation of platelet activation|response to lipopolysaccharide	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)	2	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)									0.573248	347.379125	348.114981	90	67	KEEP	---	---	---	---	capture		Silent	SNP	169572376	169572376	14505	1	A	G	G	G	24	2	SELP	4	4
CROCC	9696	broad.mit.edu	37	1	17266430	17266430	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17266430C>A	uc001azt.2	+	c.1650C>A	c.(1648-1650)GGC>GGA	p.G550G	CROCC_uc009voy.1_Silent_p.G253G|CROCC_uc009voz.1_Silent_p.G313G|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	550	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)										0.253425	86.826663	94.876381	37	109	KEEP	---	---	---	---	capture		Silent	SNP	17266430	17266430	4032	1	C	A	A	A	314	25	CROCC	2	2
TNR	7143	broad.mit.edu	37	1	175334239	175334239	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175334239T>A	uc001gkp.1	-	c.2494A>T	c.(2494-2496)ATG>TTG	p.M832L	TNR_uc009wwu.1_Missense_Mutation_p.M832L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	832	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.650485	212.749691	214.807781	67	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175334239	175334239	16879	1	T	A	A	A	650	50	TNR	3	3
PAPPA2	60676	broad.mit.edu	37	1	176564507	176564507	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176564507C>A	uc001gkz.2	+	c.1767C>A	c.(1765-1767)AGC>AGA	p.S589R	PAPPA2_uc001gky.1_Missense_Mutation_p.S589R|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	589	Metalloprotease.				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														0.528169	230.78217	230.877986	75	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176564507	176564507	11850	1	C	A	A	A	324	25	PAPPA2	2	2
PAPPA2	60676	broad.mit.edu	37	1	176709119	176709120	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176709119_176709120CC>AT	uc001gkz.2	+	c.3938_3939CC>AT	c.(3937-3939)ACC>AAT	p.T1313N	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1313					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														0.264901	111.829067	119.37368	40	111	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	176709119	176709120	11850	1	CC	AT	AT	AT	234	18	PAPPA2	2	2
FAM5B	57795	broad.mit.edu	37	1	177249996	177249996	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177249996G>T	uc001glf.2	+	c.1684G>T	c.(1684-1686)GGG>TGG	p.G562W	FAM5B_uc001glg.2_Missense_Mutation_p.G457W	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	562						extracellular region				ovary(2)	2														0.166667	15.067494	20.126372	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177249996	177249996	5816	1	G	T	T	T	611	47	FAM5B	2	2
TOR1AIP2	163590	broad.mit.edu	37	1	179815333	179815333	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179815333G>A	uc001gnk.2	-	c.1286C>T	c.(1285-1287)TCT>TTT	p.S429F	TOR1AIP2_uc001gnl.2_Missense_Mutation_p.S429F	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	429						endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1														0.300546	156.358813	162.859151	55	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179815333	179815333	16915	1	G	A	A	A	429	33	TOR1AIP2	2	2
CACNA1E	777	broad.mit.edu	37	1	181745256	181745256	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181745256C>A	uc001gow.2	+	c.5159C>A	c.(5158-5160)GCC>GAC	p.A1720D	CACNA1E_uc009wxs.2_Missense_Mutation_p.A1608D|CACNA1E_uc001gox.1_Missense_Mutation_p.A946D|CACNA1E_uc009wxt.2_Missense_Mutation_p.A946D	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1720	IV.|Helical; Name=S6 of repeat IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.2875	348.280378	367.710304	138	342	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181745256	181745256	2658	1	C	A	A	A	338	26	CACNA1E	2	2
GLUL	2752	broad.mit.edu	37	1	182355522	182355522	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182355522T>A	uc001gpa.1	-	c.344A>T	c.(343-345)CAC>CTC	p.H115L	GLUL_uc010pnt.1_5'Flank|GLUL_uc001gpb.1_Missense_Mutation_p.H115L|GLUL_uc001gpc.1_Missense_Mutation_p.H115L|GLUL_uc001gpd.1_Missense_Mutation_p.H115L	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	115					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)									0.253918	214.22111	231.757299	81	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182355522	182355522	6746	1	T	A	A	A	767	59	GLUL	3	3
RGS8	85397	broad.mit.edu	37	1	182615882	182615882	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182615882C>G	uc001gpm.1	-	c.585G>C	c.(583-585)AGG>AGC	p.R195S	RGS8_uc010pnw.1_Missense_Mutation_p.R177S|RGS8_uc001gpn.1_Missense_Mutation_p.R177S	NM_033345	NP_203131	P57771	RGS8_HUMAN	regulator of G-protein signalling 8 isoform 1	177					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)	1						Ovarian(189;1262 3804 41973)								0.611511	661.431233	664.467049	170	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182615882	182615882	13786	1	C	G	G	G	389	30	RGS8	3	3
LAMC1	3915	broad.mit.edu	37	1	183099634	183099634	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183099634G>A	uc001gpy.3	+	c.3436G>A	c.(3436-3438)GAA>AAA	p.E1146K		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1146	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.272059	94.609633	100.983823	37	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183099634	183099634	8937	1	G	A	A	A	585	45	LAMC1	2	2
NMNAT2	23057	broad.mit.edu	37	1	183259340	183259340	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183259340C>A	uc001gqc.1	-	c.244G>T	c.(244-246)GTG>TTG	p.V82L	NMNAT2_uc001gqb.1_Missense_Mutation_p.V77L|NMNAT2_uc001gqd.2_5'UTR	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	nicotinamide mononucleotide adenylyltransferase	82					NAD biosynthetic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0														0.588235	30.951385	31.066634	10	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183259340	183259340	10902	1	C	A	A	A	234	18	NMNAT2	2	2
EDEM3	80267	broad.mit.edu	37	1	184688331	184688331	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:184688331A>C	uc010pom.1	-	c.1126T>G	c.(1126-1128)TAT>GAT	p.Y376D	EDEM3_uc010pok.1_Missense_Mutation_p.Y376D|EDEM3_uc010pol.1_Non-coding_Transcript	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	376					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1														0.209877	49.635477	55.939467	17	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184688331	184688331	5100	1	A	C	C	C	208	16	EDEM3	4	4
TPR	7175	broad.mit.edu	37	1	186306192	186306192	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186306192C>A	uc001grv.2	-	c.4459G>T	c.(4459-4461)GAA>TAA	p.E1487*		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1487	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)						1949				0.54955	192.077001	192.313026	61	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	186306192	186306192	16960	1	C	A	A	A	377	29	TPR	5	2
PLA2G4A	5321	broad.mit.edu	37	1	186901923	186901923	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186901923G>T	uc001gsc.2	+	c.587G>T	c.(586-588)GGT>GTT	p.G196V	PLA2G4A_uc010pos.1_Missense_Mutation_p.G136V	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	196	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(1)	1					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)									0.319444	183.569683	189.789998	69	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186901923	186901923	12427	1	G	T	T	T	572	44	PLA2G4A	2	2
IGSF21	84966	broad.mit.edu	37	1	18692014	18692014	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:18692014A>T	uc001bau.1	+	c.838A>T	c.(838-840)AGC>TGC	p.S280C	IGSF21_uc001bav.1_Missense_Mutation_p.S101C	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	280						extracellular region				ovary(2)|large_intestine(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)										0.385621	164.585724	166.339852	59	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18692014	18692014	7900	1	A	T	T	T	91	7	IGSF21	3	3
FAM5C	339479	broad.mit.edu	37	1	190067209	190067209	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190067209T>G	uc001gse.1	-	c.2240A>C	c.(2239-2241)CAG>CCG	p.Q747P	FAM5C_uc010pot.1_Missense_Mutation_p.Q645P	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	747						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.292	217.274712	226.961018	73	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190067209	190067209	5817	1	T	G	G	G	715	55	FAM5C	4	4
RGS18	64407	broad.mit.edu	37	1	192153479	192153479	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192153479C>A	uc001gsg.2	+	c.503C>A	c.(502-504)CCT>CAT	p.P168H		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	168	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3														0.256098	52.933916	57.359409	21	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192153479	192153479	13774	1	C	A	A	A	312	24	RGS18	2	2
CFH	3075	broad.mit.edu	37	1	196714946	196714946	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196714946G>T	uc001gtj.3	+	c.3311_splice	c.e21-1	p.D1104_splice		NM_000186	NP_000177			complement factor H isoform a precursor						complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.280851	165.932864	176.089188	66	169	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	196714946	196714946	3416	1	G	T	T	T	429	33	CFH	5	2
CFHR4	10877	broad.mit.edu	37	1	196883639	196883639	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196883639C>A	uc001gtp.2	+	c.1195C>A	c.(1195-1197)CCT>ACT	p.P399T	CFHR4_uc001gto.2_Missense_Mutation_p.P152T|CFHR4_uc009wyy.2_Missense_Mutation_p.P398T	NM_006684	NM_006684	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	152	Sushi 3.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)	2														0.482353	127.168341	127.191516	41	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196883639	196883639	3420	1	C	A	A	A	338	26	CFHR4	2	2
F13B	2165	broad.mit.edu	37	1	197030920	197030920	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197030920C>T	uc001gtt.1	-	c.445G>A	c.(445-447)GAA>AAA	p.E149K		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	149					blood coagulation	extracellular region				central_nervous_system(1)	1														0.326087	41.307909	42.542853	15	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197030920	197030920	5535	1	C	T	T	T	416	32	F13B	2	2
ASPM	259266	broad.mit.edu	37	1	197073145	197073145	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197073145T>G	uc001gtu.2	-	c.5236A>C	c.(5236-5238)AAG>CAG	p.K1746Q	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1746	IQ 6.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.608696	475.39823	477.54055	126	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197073145	197073145	1075	1	T	G	G	G	832	64	ASPM	4	4
CRB1	23418	broad.mit.edu	37	1	197390239	197390239	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197390239C>G	uc001gtz.2	+	c.1281C>G	c.(1279-1281)AAC>AAG	p.N427K	CRB1_uc010poz.1_Missense_Mutation_p.N358K|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Missense_Mutation_p.N315K|CRB1_uc010ppb.1_Missense_Mutation_p.N427K|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.N76K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	427	Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.554348	383.637603	384.107234	102	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197390239	197390239	3987	1	C	G	G	G	233	18	CRB1	3	3
OPTC	26254	broad.mit.edu	37	1	203472096	203472096	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203472096C>A	uc001gzu.1	+	c.787C>A	c.(787-789)CCG>ACG	p.P263T		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	263	LRR 4.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)											0.549451	153.248063	153.440616	50	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203472096	203472096	11294	1	C	A	A	A	286	22	OPTC	2	2
SLC26A9	115019	broad.mit.edu	37	1	205884139	205884139	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205884139G>T	uc001hdp.2	-	c.2545C>A	c.(2545-2547)CGA>AGA	p.R849R	SLC26A9_uc001hdm.2_Silent_p.R96R|SLC26A9_uc001hdn.2_Silent_p.R96R|SLC26A9_uc001hdo.2_3'UTR|SLC26A9_uc001hdq.2_3'UTR	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform b	Error:Variant_position_missing_in_Q7LBE3_after_alignment						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)	1	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)											0.271889	162.522869	172.71545	59	158	KEEP	---	---	---	---	capture		Silent	SNP	205884139	205884139	15021	1	G	T	T	T	519	40	SLC26A9	1	1
AVPR1B	553	broad.mit.edu	37	1	206225092	206225092	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206225092T>C	uc001hds.2	+	c.652T>C	c.(652-654)TGC>CGC	p.C218R		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	218	Helical; Name=5; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)									0.2875	133.585609	140.064942	46	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206225092	206225092	1253	1	T	C	C	C	715	55	AVPR1B	4	4
TRAF3IP3	80342	broad.mit.edu	37	1	209933482	209933482	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209933482G>A	uc001hho.2	+	c.98G>A	c.(97-99)CGC>CAC	p.R33H	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R33H|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R33H|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R33H|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R33H	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	33	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)										0.409091	52.040381	52.358308	18	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209933482	209933482	16986	1	G	A	A	A	494	38	TRAF3IP3	1	1
CENPF	1063	broad.mit.edu	37	1	214814818	214814818	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214814818C>T	uc001hkm.2	+	c.3137C>T	c.(3136-3138)GCA>GTA	p.A1046V		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1046	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.177083	30.709154	40.147922	17	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214814818	214814818	3364	1	C	T	T	T	325	25	CENPF	2	2
CENPF	1063	broad.mit.edu	37	1	214815414	214815414	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214815414C>T	uc001hkm.2	+	c.3733C>T	c.(3733-3735)CTT>TTT	p.L1245F		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1321	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.172043	31.937118	41.394022	16	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214815414	214815414	3364	1	C	T	T	T	416	32	CENPF	2	2
CENPF	1063	broad.mit.edu	37	1	214818275	214818275	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214818275C>T	uc001hkm.2	+	c.5362C>T	c.(5362-5364)CAT>TAT	p.H1788Y		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1884	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.166667	23.820882	32.043086	13	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214818275	214818275	3364	1	C	T	T	T	377	29	CENPF	2	2
CENPF	1063	broad.mit.edu	37	1	214818772	214818774	+	Missense	Complex_substitution	CNC	TNT	TNT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214818772C>T	uc001hkm.2	+	c.5859C>T	c.(5857-5859)CTC>CTT	p.L1953L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2049	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.142857	42.780296	63.433898	24	144	KEEP	---	---	---	---	capture		Missense	Complex_substitution	214818772	214818774	3364	1	CNC	TNT	TNT	T	405	32	CENPF	5	5
CENPF	1063	broad.mit.edu	37	1	214818975	214818975	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214818975C>G	uc001hkm.2	+	c.6062C>G	c.(6061-6063)TCT>TGT	p.S2021C		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2117	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.158228	59.167219	76.763328	25	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214818975	214818975	3364	1	C	G	G	G	416	32	CENPF	3	3
CENPF	1063	broad.mit.edu	37	1	214819044	214819044	+	Nonsense_Mutation	SNP	C	G	G	rs7533166	byFrequency;by1000genomes	TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214819044C>G	uc001hkm.2	+	c.6131C>G	c.(6130-6132)TCA>TGA	p.S2044*		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2140	Potential.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.179191	81.415429	98.16875	31	142	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	214819044	214819044	3364	1	C	G	G	G	377	29	CENPF	5	3
CENPF	1063	broad.mit.edu	37	1	214819658	214819658	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214819658C>A	uc001hkm.2	+	c.6745C>A	c.(6745-6747)CAG>AAG	p.Q2249K		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2345	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.178771	72.984833	90.371213	32	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214819658	214819658	3364	1	C	A	A	A	221	17	CENPF	2	2
CENPF	1063	broad.mit.edu	37	1	214825149	214825149	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214825149G>C	uc001hkm.2	+	c.8080G>C	c.(8080-8082)GAG>CAG	p.E2694Q		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2790	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.205479	84.865266	96.610877	30	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214825149	214825149	3364	1	G	C	C	C	429	33	CENPF	3	3
CENPF	1063	broad.mit.edu	37	1	214826243	214826243	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214826243G>A	uc001hkm.2	+	c.8233G>A	c.(8233-8235)GAG>AAG	p.E2745K		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2841	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.133333	29.68947	49.26896	20	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214826243	214826243	3364	1	G	A	A	A	533	41	CENPF	2	2
CENPF	1063	broad.mit.edu	37	1	214830356	214830356	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214830356G>A	uc001hkm.2	+	c.8566G>A	c.(8566-8568)GAG>AAG	p.E2856K		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2952	Potential.|Sufficient for nuclear localization.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.2	84.164295	99.653414	37	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214830356	214830356	3364	1	G	A	A	A	533	41	CENPF	2	2
CENPF	1063	broad.mit.edu	37	1	214830542	214830542	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214830542G>A	uc001hkm.2	+	c.8752G>A	c.(8752-8754)GAA>AAA	p.E2918K		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	3014	Sufficient for nuclear localization.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.223529	128.598347	146.565786	57	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214830542	214830542	3364	1	G	A	A	A	585	45	CENPF	2	2
USH2A	7399	broad.mit.edu	37	1	216062335	216062336	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216062335_216062336GG>TT	uc001hku.1	-	c.7655_7656CC>AA	c.(7654-7656)ACC>AAA	p.T2552K		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2552	Fibronectin type-III 12.|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)										0.311377	151.336936	156.628948	52	115	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	216062335	216062336	17598	1	GG	TT	TT	TT	444	35	USH2A	2	2
LEFTY2	7044	broad.mit.edu	37	1	226128626	226128626	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226128626C>T	uc001hpt.1	-	c.215G>A	c.(214-216)CGC>CAC	p.R72H	LEFTY2_uc010pvk.1_Missense_Mutation_p.R72H|LEFTY2_uc009xek.1_Missense_Mutation_p.R72H	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	72					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					Colon(172;116 2643 9098 43333)								0.268817	62.64353	67.123854	25	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226128626	226128626	9040	1	C	T	T	T	351	27	LEFTY2	1	1
OBSCN	84033	broad.mit.edu	37	1	228481316	228481316	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228481316G>C	uc009xez.1	+	c.11130G>C	c.(11128-11130)AGG>AGC	p.R3710S	OBSCN_uc001hsn.2_Missense_Mutation_p.R3710S|OBSCN_uc001hsq.1_Missense_Mutation_p.R966S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3710					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				0.28169	51.867125	54.909677	20	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228481316	228481316	11217	1	G	C	C	C	555	43	OBSCN	3	3
CAPN9	10753	broad.mit.edu	37	1	230883330	230883330	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230883330G>C	uc001htz.1	+	c.88G>C	c.(88-90)GAG>CAG	p.E30Q	CAPN9_uc009xfg.1_Missense_Mutation_p.E30Q|CAPN9_uc001hua.1_Missense_Mutation_p.E30Q	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	30					digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)												0.157895	78.35266	101.663059	33	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230883330	230883330	2751	1	G	C	C	C	585	45	CAPN9	3	3
SLC35F3	148641	broad.mit.edu	37	1	234041292	234041292	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:234041292C>T	uc001hvy.1	+	c.71C>T	c.(70-72)CCG>CTG	p.P24L		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	Error:Variant_position_missing_in_Q8IY50_after_alignment					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)											0.632653	102.434533	103.191948	31	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234041292	234041292	15087	1	C	T	T	T	299	23	SLC35F3	1	1
HNRNPR	10236	broad.mit.edu	37	1	23650093	23650093	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23650093T>C	uc001bgp.3	-	c.631A>G	c.(631-633)ATC>GTC	p.I211V	HNRNPR_uc001bgr.3_Missense_Mutation_p.I211V|HNRNPR_uc009vqk.2_Missense_Mutation_p.I110V|HNRNPR_uc001bgs.3_Missense_Mutation_p.I110V|HNRNPR_uc010odw.1_Missense_Mutation_p.I173V|HNRNPR_uc010odx.1_Intron|HNRNPR_uc009vql.2_Missense_Mutation_p.I72V	NM_001102398	NP_001095868	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	211	RRM 1.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)										0.474026	262.26952	262.359249	73	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23650093	23650093	7564	1	T	C	C	C	637	49	HNRNPR	4	4
HEATR1	55127	broad.mit.edu	37	1	236719179	236719179	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236719179C>T	uc001hyd.1	-	c.5575G>A	c.(5575-5577)GAG>AAG	p.E1859K	HEATR1_uc009xgh.1_Missense_Mutation_p.E1021K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1859					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.239837	146.402723	161.603607	59	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236719179	236719179	7310	1	C	T	T	T	416	32	HEATR1	2	2
HEATR1	55127	broad.mit.edu	37	1	236723047	236723047	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236723047C>A	uc001hyd.1	-	c.4737G>T	c.(4735-4737)GCG>GCT	p.A1579A	HEATR1_uc009xgh.1_Silent_p.A741A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1579					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.630435	383.338058	386.107489	116	68	KEEP	---	---	---	---	capture		Silent	SNP	236723047	236723047	7310	1	C	A	A	A	340	27	HEATR1	1	1
TCEA3	6920	broad.mit.edu	37	1	23713895	23713895	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23713895T>A	uc001bgx.1	-	c.837A>T	c.(835-837)GAA>GAT	p.E279D	TCEA3_uc009vqm.1_Missense_Mutation_p.E48D	NM_003196	NP_003187	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	279	TFIIS central.				regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|RNA polymerase II transcription factor activity|transcription elongation regulator activity|translation elongation factor activity|zinc ion binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)										0.416667	12.870028	12.943366	5	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23713895	23713895	16195	1	T	A	A	A	777	60	TCEA3	3	3
RYR2	6262	broad.mit.edu	37	1	237732601	237732601	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237732601G>A	uc001hyl.1	+	c.3580G>A	c.(3580-3582)GAC>AAC	p.D1194N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1194	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				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)											0.288889	35.054956	36.853857	13	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237732601	237732601	14249	1	G	A	A	A	533	41	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237982348	237982348	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237982348C>A	uc001hyl.1	+	c.14446C>A	c.(14446-14448)CAC>AAC	p.H4816N	RYR2_uc010pyb.1_Missense_Mutation_p.H249N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4816	Helical; Name=M9; (Potential).				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)											0.558442	140.431247	140.659717	43	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237982348	237982348	14249	1	C	A	A	A	273	21	RYR2	2	2
ZNF695	57116	broad.mit.edu	37	1	247163260	247163260	+	Silent	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247163260C>G	uc009xgu.2	-	c.120G>C	c.(118-120)CTG>CTC	p.L40L	ZNF695_uc001ica.2_Non-coding_Transcript|ZNF695_uc001icb.1_Non-coding_Transcript|ZNF695_uc009xgt.1_Non-coding_Transcript|ZNF695_uc001ibx.2_Silent_p.L40L|ZNF695_uc001iby.2_Non-coding_Transcript|ZNF695_uc001icc.2_Silent_p.L40L	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	40	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)											0.525773	196.432491	196.488522	51	46	KEEP	---	---	---	---	capture		Silent	SNP	247163260	247163260	18693	1	C	G	G	G	366	29	ZNF695	3	3
ZNF669	79862	broad.mit.edu	37	1	247263792	247263792	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247263792A>T	uc001ice.2	-	c.1279T>A	c.(1279-1281)TAC>AAC	p.Y427N	ZNF669_uc001icf.2_Missense_Mutation_p.Y341N	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	427	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)											0.214815	201.328309	231.721101	87	318	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247263792	247263792	18671	1	A	T	T	T	195	15	ZNF669	3	3
NLRP3	114548	broad.mit.edu	37	1	247582246	247582246	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247582246C>A	uc001icr.2	+	c.150C>A	c.(148-150)GAC>GAA	p.D50E	NLRP3_uc001ics.2_Missense_Mutation_p.D50E|NLRP3_uc001icu.2_Missense_Mutation_p.D50E|NLRP3_uc001icw.2_Missense_Mutation_p.D50E|NLRP3_uc001icv.2_Missense_Mutation_p.D50E|NLRP3_uc010pyw.1_Missense_Mutation_p.D48E|NLRP3_uc001ict.1_Missense_Mutation_p.D48E	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	50	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.636364	131.844982	132.919569	42	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247582246	247582246	10881	1	C	A	A	A	233	18	NLRP3	2	2
NLRP3	114548	broad.mit.edu	37	1	247597474	247597474	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247597474G>T	uc001icr.2	+	c.2397G>T	c.(2395-2397)AAG>AAT	p.K799N	NLRP3_uc001ics.2_Missense_Mutation_p.K799N|NLRP3_uc001icu.2_Missense_Mutation_p.K799N|NLRP3_uc001icw.2_Missense_Mutation_p.K742N|NLRP3_uc001icv.2_Missense_Mutation_p.K742N|NLRP3_uc010pyw.1_Missense_Mutation_p.K777N	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	799	LRR 3.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.64532	420.073191	423.850137	131	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247597474	247597474	10881	1	G	T	T	T	438	34	NLRP3	2	2
OR2C3	81472	broad.mit.edu	37	1	247695456	247695456	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247695456A>C	uc009xgy.2	-	c.358T>G	c.(358-360)TCC>GCC	p.S120A	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)											0.481481	88.050112	88.065988	26	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247695456	247695456	11399	1	A	C	C	C	130	10	OR2C3	4	4
OR2L2	26246	broad.mit.edu	37	1	248201677	248201677	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248201677G>T	uc001idw.2	+	c.108G>T	c.(106-108)ATG>ATT	p.M36I	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)											0.325444	311.526554	320.668007	110	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248201677	248201677	11413	1	G	T	T	T	611	47	OR2L2	2	2
OR2L13	284521	broad.mit.edu	37	1	248263048	248263048	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248263048C>A	uc001ids.2	+	c.371C>A	c.(370-372)GCC>GAC	p.A124D		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)							85				0.572614	416.6403	417.743627	138	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248263048	248263048	11412	1	C	A	A	A	338	26	OR2L13	2	2
OR2M3	127062	broad.mit.edu	37	1	248366960	248366960	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248366960G>T	uc010pzg.1	+	c.591G>T	c.(589-591)AAG>AAT	p.K197N		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	197	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.568396	724.887159	726.610446	241	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248366960	248366960	11417	1	G	T	T	T	425	33	OR2M3	2	2
OR2M3	127062	broad.mit.edu	37	1	248367211	248367211	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248367211T>G	uc010pzg.1	+	c.842T>G	c.(841-843)CTC>CGC	p.L281R		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.496894	256.293651	256.29493	80	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248367211	248367211	11417	1	T	G	G	G	702	54	OR2M3	4	4
OR14C36	127066	broad.mit.edu	37	1	248512220	248512220	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248512220C>T	uc010pzl.1	+	c.144C>T	c.(142-144)ACC>ACT	p.T48T		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.303483	186.196062	193.12495	61	140	KEEP	---	---	---	---	capture		Silent	SNP	248512220	248512220	11352	1	C	T	T	T	301	24	OR14C36	2	2
OR2T6	254879	broad.mit.edu	37	1	248551769	248551769	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248551769C>A	uc001iei.1	+	c.860C>A	c.(859-861)CCT>CAT	p.P287H		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.347458	115.432191	117.859146	41	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248551769	248551769	11435	1	C	A	A	A	312	24	OR2T6	2	2
OR2T11	127077	broad.mit.edu	37	1	248790328	248790328	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248790328C>A	uc001ier.1	-	c.102G>T	c.(100-102)GGG>GGT	p.G34G		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.904255	280.535145	295.939022	85	9	KEEP	---	---	---	---	capture		Silent	SNP	248790328	248790328	11424	1	C	A	A	A	275	22	OR2T11	2	2
OR2T27	403239	broad.mit.edu	37	1	248813331	248813331	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248813331G>C	uc010pzo.1	-	c.855C>G	c.(853-855)CTC>CTG	p.L285L		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.205128	44.257773	50.5479	16	62	KEEP	---	---	---	---	capture		Silent	SNP	248813331	248813331	11427	1	G	C	C	C	574	45	OR2T27	3	3
FGR	2268	broad.mit.edu	37	1	27943704	27943704	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27943704C>A	uc001boj.2	-	c.532G>T	c.(532-534)GGT>TGT	p.G178C	FGR_uc001boi.2_5'Flank|FGR_uc001bok.2_Missense_Mutation_p.G178C|FGR_uc001bol.2_Missense_Mutation_p.G178C|FGR_uc001bom.2_Missense_Mutation_p.G178C	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	178	SH2.				platelet activation|protein phosphorylation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(1)	1		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)						129				0.445378	151.980319	152.299226	53	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27943704	27943704	6111	1	C	A	A	A	312	24	FGR	2	2
PTPRU	10076	broad.mit.edu	37	1	29606079	29606079	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29606079C>T	uc001bru.2	+	c.1675C>T	c.(1675-1677)CCA>TCA	p.P559S	PTPRU_uc001brv.2_Missense_Mutation_p.P559S|PTPRU_uc001brw.2_Missense_Mutation_p.P559S|PTPRU_uc009vtq.2_Missense_Mutation_p.P559S|PTPRU_uc009vtr.2_Missense_Mutation_p.P559S	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	559	Extracellular (Potential).|Fibronectin type-III 3.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)						874				0.396624	283.513519	285.723601	94	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29606079	29606079	13271	1	C	T	T	T	286	22	PTPRU	2	2
COL16A1	1307	broad.mit.edu	37	1	32167741	32167741	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32167741G>A	uc001btk.1	-	c.54C>T	c.(52-54)TTC>TTT	p.F18F	COL16A1_uc001btl.3_Silent_p.F18F	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	18					cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		Colon(143;498 1786 21362 25193 36625)								0.472222	104.555593	104.60273	34	38	KEEP	---	---	---	---	capture		Silent	SNP	32167741	32167741	3811	1	G	A	A	A	477	37	COL16A1	1	1
KIAA1522	57648	broad.mit.edu	37	1	33235819	33235819	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33235819C>T	uc001bvu.1	+	c.1039C>T	c.(1039-1041)CAG>TAG	p.Q347*	KIAA1522_uc010ohm.1_Nonsense_Mutation_p.Q299*|KIAA1522_uc001bvv.2_Nonsense_Mutation_p.Q288*|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	288											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)												0.484211	127.846468	127.866436	46	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33235819	33235819	8547	1	C	T	T	T	273	21	KIAA1522	5	2
CSMD2	114784	broad.mit.edu	37	1	34049279	34049279	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34049279G>A	uc001bxm.1	-	c.7203C>T	c.(7201-7203)CTC>CTT	p.L2401L	CSMD2_uc001bxn.1_Silent_p.L2403L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2403	CUB 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.350785	183.559322	187.314461	67	124	KEEP	---	---	---	---	capture		Silent	SNP	34049279	34049279	4086	1	G	A	A	A	574	45	CSMD2	2	2
CSMD2	114784	broad.mit.edu	37	1	34112374	34112374	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34112374G>T	uc001bxm.1	-	c.4648C>A	c.(4648-4650)CCT>ACT	p.P1550T	CSMD2_uc001bxn.1_Missense_Mutation_p.P1510T|CSMD2_uc001bxo.1_Missense_Mutation_p.P423T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1510	CUB 9.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.464286	37.96766	37.999147	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34112374	34112374	4086	1	G	T	T	T	559	43	CSMD2	2	2
THRAP3	9967	broad.mit.edu	37	1	36752349	36752349	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36752349A>T	uc001cae.3	+	c.518A>T	c.(517-519)AAG>ATG	p.K173M	THRAP3_uc001caf.3_Missense_Mutation_p.K173M|THRAP3_uc001cag.1_Missense_Mutation_p.K173M	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	173	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(5)|lung(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				Pancreas(129;785 1795 20938 23278 32581)				199				0.391863	546.913237	551.698136	183	284	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36752349	36752349	16402	1	A	T	T	T	39	3	THRAP3	3	3
MTF1	4520	broad.mit.edu	37	1	38322977	38322977	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38322977A>C	uc001cce.1	-	c.354T>G	c.(352-354)ATT>ATG	p.I118M	MTF1_uc009vvj.1_De_novo_Start_InFrame	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	118						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.389313	176.801982	178.20598	51	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38322977	38322977	10315	1	A	C	C	C	60	5	MTF1	4	4
EPS15	2060	broad.mit.edu	37	1	51875246	51875246	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:51875246G>T	uc001csq.1	-	c.1236C>A	c.(1234-1236)CTC>CTA	p.L412L	EPS15_uc009vyz.1_Silent_p.L412L|EPS15_uc001csp.3_Silent_p.L98L	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	412					cell proliferation|clathrin coat assembly|endocytic recycling|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			kidney(1)	1										562				0.344444	87.29327	89.218745	31	59	KEEP	---	---	---	---	capture		Silent	SNP	51875246	51875246	5385	1	G	T	T	T	574	45	EPS15	2	2
TTC22	55001	broad.mit.edu	37	1	55253465	55253466	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55253465_55253466CC>AA	uc009vzt.1	-	c.657_658GG>TT	c.(655-660)GAGGAG>GATTAG	p.219_220EE>D*	TTC22_uc001cxz.3_Nonsense_Mutation_p.219_220EE>D*	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22 isoform 1	219_220	TPR 3.						binding				0														0.315789	15.158117	15.723641	6	13	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	55253465	55253466	17243	1	CC	AA	AA	AA	390	30	TTC22	5	2
C1orf177	163747	broad.mit.edu	37	1	55277513	55277513	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55277513A>T	uc001cyb.3	+	c.527A>T	c.(526-528)TAC>TTC	p.Y176F	C1orf177_uc001cya.3_Missense_Mutation_p.Y176F	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	176											0														0.424242	82.892458	83.22196	28	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55277513	55277513	2084	1	A	T	T	T	182	14	C1orf177	3	3
C1orf168	199920	broad.mit.edu	37	1	57216826	57216826	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57216826G>C	uc001cym.3	-	c.1278C>G	c.(1276-1278)CAC>CAG	p.H426Q	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.2_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	426										ovary(2)	2														0.507937	119.602557	119.606023	32	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57216826	57216826	2079	1	G	C	C	C	620	48	C1orf168	3	3
INADL	10207	broad.mit.edu	37	1	62550300	62550300	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62550300G>C	uc001dab.2	+	c.4357G>C	c.(4357-4359)GGA>CGA	p.G1453R	INADL_uc009waf.1_Missense_Mutation_p.G1453R|INADL_uc001daa.2_Missense_Mutation_p.G1453R|INADL_uc001dad.3_Missense_Mutation_p.G1150R|INADL_uc001dac.2_Non-coding_Transcript|INADL_uc010oot.1_Missense_Mutation_p.G237R|INADL_uc009wag.2_Missense_Mutation_p.G237R|INADL_uc010oou.1_Missense_Mutation_p.G126R	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1453	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.417266	189.037214	189.864403	58	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62550300	62550300	8032	1	G	C	C	C	559	43	INADL	3	3
C1orf173	127254	broad.mit.edu	37	1	75038355	75038355	+	Silent	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75038355A>T	uc001dgg.2	-	c.3039T>A	c.(3037-3039)CCT>CCA	p.P1013P		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1013	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.447205	210.442546	210.83735	72	89	KEEP	---	---	---	---	capture		Silent	SNP	75038355	75038355	2081	1	A	T	T	T	80	7	C1orf173	3	3
C1orf173	127254	broad.mit.edu	37	1	75038802	75038802	+	Silent	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75038802T>C	uc001dgg.2	-	c.2592A>G	c.(2590-2592)GCA>GCG	p.A864A		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	864	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.436975	319.576497	320.39761	104	134	KEEP	---	---	---	---	capture		Silent	SNP	75038802	75038802	2081	1	T	C	C	C	808	63	C1orf173	4	4
LHX8	431707	broad.mit.edu	37	1	75626524	75626524	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75626524G>T	uc001dgo.2	+	c.1015G>T	c.(1015-1017)GGA>TGA	p.G339*	LHX8_uc001dgq.2_Nonsense_Mutation_p.G278*	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	339					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(3)	3														0.436364	146.004314	146.387963	48	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75626524	75626524	9102	1	G	T	T	T	611	47	LHX8	5	2
PIGK	10026	broad.mit.edu	37	1	77629531	77629531	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:77629531C>A	uc001dhk.2	-	c.584G>T	c.(583-585)CGC>CTC	p.R195L	PIGK_uc010orj.1_Missense_Mutation_p.R119L|PIGK_uc009wbx.2_Missense_Mutation_p.R101L|PIGK_uc001dhl.1_Missense_Mutation_p.R195L	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	195	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3														0.255814	28.104151	30.429961	11	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77629531	77629531	12314	1	C	A	A	A	299	23	PIGK	1	1
LPHN2	23266	broad.mit.edu	37	1	82456749	82456749	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:82456749A>T	uc001dit.3	+	c.4132A>T	c.(4132-4134)ATA>TTA	p.I1378L	LPHN2_uc001dis.2_Missense_Mutation_p.I358L|LPHN2_uc001diu.2_Missense_Mutation_p.I1378L|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.I1005L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1434	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)										0.387755	59.317082	59.856901	19	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82456749	82456749	9289	1	A	T	T	T	208	16	LPHN2	3	3
RPF1	80135	broad.mit.edu	37	1	84962049	84962049	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84962049A>G	uc001djv.3	+	c.1004A>G	c.(1003-1005)CAT>CGT	p.H335R		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	RNA processing factor 1	335					rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding				0														0.43038	115.041138	115.374464	34	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84962049	84962049	14025	1	A	G	G	G	104	8	RPF1	4	4
BRDT	676	broad.mit.edu	37	1	92459667	92459667	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:92459667T>A	uc010osz.1	+	c.2155T>A	c.(2155-2157)TCT>ACT	p.S719T	BRDT_uc001dok.3_Missense_Mutation_p.S715T|BRDT_uc001dol.3_Missense_Mutation_p.S715T|BRDT_uc009wdf.2_Missense_Mutation_p.S642T|BRDT_uc010ota.1_Missense_Mutation_p.S669T|BRDT_uc010otb.1_Missense_Mutation_p.S669T|BRDT_uc001dom.3_Missense_Mutation_p.S715T	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(1)|ovary(1)|lung(1)	3		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)						576				0.385093	176.918178	178.778858	62	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92459667	92459667	1539	1	T	A	A	A	702	54	BRDT	3	3
SPTLC3	55304	broad.mit.edu	37	20	13029632	13029632	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:13029632G>C	uc002wod.1	+	c.157G>C	c.(157-159)GAA>CAA	p.E53Q	SPTLC3_uc002woc.2_Missense_Mutation_p.E53Q	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	53					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)									0.251497	134.367589	143.736511	42	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13029632	13029632	15639	20	G	C	C	C	585	45	SPTLC3	3	3
SLC24A3	57419	broad.mit.edu	37	20	19665898	19665898	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:19665898A>T	uc002wrl.2	+	c.1217A>T	c.(1216-1218)GAG>GTG	p.E406V		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	406	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1														0.457627	82.434138	82.523968	27	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19665898	19665898	14964	20	A	T	T	T	143	11	SLC24A3	3	3
CST9	128822	broad.mit.edu	37	20	23584171	23584171	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23584171G>A	uc002wtl.2	-	c.456C>T	c.(454-456)GCC>GCT	p.A152A		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	cystatin 9 precursor	152						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Colorectal(13;0.0993)													0.444444	65.177015	65.324296	24	30	KEEP	---	---	---	---	capture		Silent	SNP	23584171	23584171	4120	20	G	A	A	A	600	47	CST9	2	2
ZNF343	79175	broad.mit.edu	37	20	2474173	2474173	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2474173G>T	uc002wge.1	-	c.169C>A	c.(169-171)CAA>AAA	p.Q57K	ZNF343_uc010gao.1_Missense_Mutation_p.Q57K|ZNF343_uc002wgd.1_5'Flank	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.542373	93.120694	93.205757	32	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2474173	2474173	18450	20	G	T	T	T	611	47	ZNF343	2	2
XKR7	343702	broad.mit.edu	37	20	30556135	30556135	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30556135G>A	uc002wxe.2	+	c.157G>A	c.(157-159)GAG>AAG	p.E53K		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	53						integral to membrane				ovary(1)|breast(1)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.583333	43.352779	43.498273	14	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30556135	30556135	18017	20	G	A	A	A	481	37	XKR7	1	1
DDRGK1	65992	broad.mit.edu	37	20	3180739	3180740	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3180739_3180740CC>AA	uc002wic.2	-	c.417_418GG>TT	c.(415-420)GAGGCT>GATTCT	p.139_140EA>DS	DDRGK1_uc010gaw.2_Non-coding_Transcript|DDRGK1_uc010gax.1_Missense_Mutation_p.139_140EA>DS	NM_023935	NP_076424	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1 precursor	139_140						endoplasmic reticulum	protein binding				0														0.475	60.122145	60.143937	19	21	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	3180739	3180740	4509	20	CC	AA	AA	AA	338	26	DDRGK1	2	2
GSS	2937	broad.mit.edu	37	20	33533834	33533834	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33533834T>C	uc002xbg.2	-	c.197A>G	c.(196-198)TAT>TGT	p.Y66C	GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Missense_Mutation_p.Y66C|GSS_uc010zup.1_5'UTR|GSS_uc002xbh.2_Non-coding_Transcript|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	66					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)									0.395455	299.295279	301.394306	87	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33533834	33533834	7109	20	T	C	C	C	637	49	GSS	4	4
DLGAP4	22839	broad.mit.edu	37	20	35060907	35060907	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35060907G>T	uc002xff.2	+	c.787G>T	c.(787-789)GAG>TAG	p.E263*	DLGAP4_uc010zvp.1_Nonsense_Mutation_p.E263*	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	263					cell-cell signaling	membrane	protein binding			ovary(1)|skin(1)	2	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)												0.4	74.62191	75.281174	30	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35060907	35060907	4742	20	G	T	T	T	585	45	DLGAP4	5	2
SAMHD1	25939	broad.mit.edu	37	20	35521455	35521455	+	Silent	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35521455T>G	uc002xgh.1	-	c.1761A>C	c.(1759-1761)ATA>ATC	p.I587I	C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_Non-coding_Transcript	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	587					defense response to virus|innate immune response|regulation of innate immune response	nucleus	hydrolase activity				0		Myeloproliferative disorder(115;0.00878)												0.507576	215.880996	215.88702	67	65	KEEP	---	---	---	---	capture		Silent	SNP	35521455	35521455	14308	20	T	G	G	G	680	53	SAMHD1	4	4
ATRN	8455	broad.mit.edu	37	20	3556573	3556573	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3556573A>G	uc002wim.2	+	c.2192A>G	c.(2191-2193)AAC>AGC	p.N731S	ATRN_uc002wil.2_Missense_Mutation_p.N731S	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	731	Extracellular (Potential).|PSI 1.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2														0.390625	84.963396	85.633127	25	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3556573	3556573	1225	20	A	G	G	G	26	2	ATRN	4	4
SIGLEC1	6614	broad.mit.edu	37	20	3675341	3675341	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3675341G>A	uc002wja.2	-	c.2913C>T	c.(2911-2913)AGC>AGT	p.S971S	SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Silent_p.S971S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	971	Ig-like C2-type 9.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|breast(1)|central_nervous_system(1)	8														0.37037	51.161546	51.967489	20	34	KEEP	---	---	---	---	capture		Silent	SNP	3675341	3675341	14800	20	G	A	A	A	542	42	SIGLEC1	2	2
LBP	3929	broad.mit.edu	37	20	36997738	36997738	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36997738T>A	uc002xic.1	+	c.1081T>A	c.(1081-1083)TAT>AAT	p.Y361N		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	361					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)												0.486034	537.23178	537.292439	174	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36997738	36997738	8974	20	T	A	A	A	689	53	LBP	3	3
RALGAPB	57148	broad.mit.edu	37	20	37146248	37146248	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37146248G>A	uc002xiw.2	+	c.1151G>A	c.(1150-1152)CGG>CAG	p.R384Q	RALGAPB_uc010zvz.1_Missense_Mutation_p.R384Q|RALGAPB_uc002xix.2_Missense_Mutation_p.R384Q|RALGAPB_uc002xiy.1_Missense_Mutation_p.R384Q|RALGAPB_uc002xiz.2_Missense_Mutation_p.R162Q|RALGAPB_uc002xja.1_Missense_Mutation_p.R111Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	384					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)	1														0.132812	27.786774	44.541911	17	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37146248	37146248	13475	20	G	A	A	A	507	39	RALGAPB	1	1
PLCG1	5335	broad.mit.edu	37	20	39794392	39794392	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39794392G>T	uc002xjo.1	+	c.1725G>T	c.(1723-1725)GAG>GAT	p.E575D	PLCG1_uc002xjp.1_Missense_Mutation_p.E575D|PLCG1_uc010zwe.1_Missense_Mutation_p.E201D|PLCG1_uc010ggf.2_5'Flank	NM_002660	NP_002651	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform a	575	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(3)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.00878)								429				0.453704	133.539436	133.743395	49	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39794392	39794392	12461	20	G	T	T	T	425	33	PLCG1	2	2
CHD6	84181	broad.mit.edu	37	20	40045257	40045257	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40045257C>T	uc002xka.1	-	c.6457G>A	c.(6457-6459)GGC>AGC	p.G2153S	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2153					chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.601351	289.204448	290.544995	89	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40045257	40045257	3463	20	C	T	T	T	299	23	CHD6	1	1
CDH22	64405	broad.mit.edu	37	20	44828182	44828182	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44828182C>T	uc002xrm.2	-	c.1303G>A	c.(1303-1305)GAA>AAA	p.E435K	CDH22_uc010ghk.1_Missense_Mutation_p.E435K	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	435	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4		Myeloproliferative disorder(115;0.0122)												0.604651	83.55731	83.969192	26	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44828182	44828182	3236	20	C	T	T	T	403	31	CDH22	1	1
NCOA3	8202	broad.mit.edu	37	20	46276056	46276056	+	Silent	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:46276056A>T	uc002xtk.2	+	c.3492A>T	c.(3490-3492)ACA>ACT	p.T1164T	NCOA3_uc010ght.1_Silent_p.T1159T|NCOA3_uc002xtl.2_Silent_p.T1164T|NCOA3_uc002xtm.2_Silent_p.T1164T|NCOA3_uc002xtn.2_Silent_p.T1164T|NCOA3_uc010zyc.1_Silent_p.T959T	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1164	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding|transcription regulator activity			ovary(3)|lung(1)|skin(1)	5										361				0.464286	111.069124	111.166181	39	45	KEEP	---	---	---	---	capture		Silent	SNP	46276056	46276056	10629	20	A	T	T	T	54	5	NCOA3	3	3
PRND	23627	broad.mit.edu	37	20	4705650	4705650	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4705650G>A	uc002wkz.2	+	c.453G>A	c.(451-453)AGG>AGA	p.R151R		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	151	Globular.				protein homooligomerization	anchored to membrane|plasma membrane					0														0.337349	79.974772	81.916685	28	55	KEEP	---	---	---	---	capture		Silent	SNP	4705650	4705650	12986	20	G	A	A	A	555	43	PRND	2	2
STX16	8675	broad.mit.edu	37	20	57242651	57242651	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57242651G>A	uc002xzi.2	+	c.250G>A	c.(250-252)GAA>AAA	p.E84K	STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Missense_Mutation_p.E67K|STX16_uc002xzm.2_Missense_Mutation_p.E80K|STX16_uc002xzj.2_Missense_Mutation_p.E63K|STX16_uc002xzl.2_5'UTR	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	84	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)											0.20339	27.065844	31.885712	12	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57242651	57242651	15859	20	G	A	A	A	585	45	STX16	2	2
ZNF831	128611	broad.mit.edu	37	20	57768837	57768837	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57768837C>T	uc002yan.2	+	c.2763C>T	c.(2761-2763)ACC>ACT	p.T921T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	921						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.353535	99.690178	101.564923	35	64	KEEP	---	---	---	---	capture		Silent	SNP	57768837	57768837	18784	20	C	T	T	T	275	22	ZNF831	2	2
DIDO1	11083	broad.mit.edu	37	20	61511984	61511984	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61511984C>G	uc002ydr.1	-	c.5324G>C	c.(5323-5325)AGG>ACG	p.R1775T	DIDO1_uc002yds.1_Missense_Mutation_p.R1775T	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1775	Pro-rich.				apoptosis	cytoplasm|nucleus	zinc ion binding			ovary(3)	3	Breast(26;5.68e-08)					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)								0.507874	399.879906	399.890302	129	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61511984	61511984	4701	20	C	G	G	G	312	24	DIDO1	3	3
BIRC7	79444	broad.mit.edu	37	20	61869766	61869766	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61869766G>T	uc002yej.2	+	c.468G>T	c.(466-468)CGG>CGT	p.R156R	BIRC7_uc010gkc.1_Silent_p.R156R|BIRC7_uc002yei.2_Silent_p.R156R	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	livin inhibitor of apoptosis isoform alpha	156					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			kidney(1)	1	all_cancers(38;2.72e-09)													0.44086	120.857832	121.14189	41	52	KEEP	---	---	---	---	capture		Silent	SNP	61869766	61869766	1464	20	G	T	T	T	561	44	BIRC7	2	2
STMN3	50861	broad.mit.edu	37	20	62275217	62275217	+	Silent	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62275217A>C	uc002yfr.1	-	c.183T>G	c.(181-183)CCT>CCG	p.P61P	STMN3_uc011abb.1_Silent_p.P61P	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	SCG10-like-protein	61					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding				0	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)											0.116022	52.667648	105.32968	42	320	KEEP	---	---	---	---	capture		Silent	SNP	62275217	62275217	15830	20	A	C	C	C	28	3	STMN3	4	4
C20orf54	113278	broad.mit.edu	37	20	746287	746287	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:746287G>A	uc002wed.3	-	c.132C>T	c.(130-132)CTC>CTT	p.L44L	C20orf54_uc002wee.2_Silent_p.L44L	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	44	Helical; (Potential).				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2														0.307692	21.101228	21.952361	8	18	KEEP	---	---	---	---	capture		Silent	SNP	746287	746287	2194	20	G	A	A	A	574	45	C20orf54	2	2
ANGPT4	51378	broad.mit.edu	37	20	853669	853669	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:853669G>T	uc002wei.2	-	c.1446C>A	c.(1444-1446)CAC>CAA	p.H482Q	ANGPT4_uc010zpn.1_3'UTR	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	482	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						Pancreas(181;481 2077 3259 31286 49856)								0.366667	95.068532	96.46802	33	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	853669	853669	615	20	G	T	T	T	464	36	ANGPT4	2	2
PLCB1	23236	broad.mit.edu	37	20	8698346	8698346	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:8698346C>T	uc002wnb.2	+	c.1364C>T	c.(1363-1365)CCT>CTT	p.P455L	PLCB1_uc010zrb.1_Missense_Mutation_p.P354L|PLCB1_uc002wna.2_Missense_Mutation_p.P455L|PLCB1_uc002wnc.1_Missense_Mutation_p.P354L|PLCB1_uc002wnd.1_Missense_Mutation_p.P32L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	455	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of monocyte extravasation|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of gene-specific transcription|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity|transcription repressor activity			ovary(4)|breast(3)|lung(1)	8														0.341615	171.074542	174.644295	55	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8698346	8698346	12453	20	C	T	T	T	312	24	PLCB1	2	2
ANGPT4	51378	broad.mit.edu	37	20	870983	870983	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:870983C>T	uc002wei.2	-	c.338G>A	c.(337-339)AGG>AAG	p.R113K	ANGPT4_uc010zpn.1_Missense_Mutation_p.R107K	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	113	Potential.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2						Pancreas(181;481 2077 3259 31286 49856)								0.441176	48.020054	48.122677	15	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	870983	870983	615	20	C	T	T	T	312	24	ANGPT4	2	2
PLCB4	5332	broad.mit.edu	37	20	9382220	9382220	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9382220G>T	uc002wne.2	+	c.1594G>T	c.(1594-1596)GCA>TCA	p.A532S	PLCB4_uc010gbw.1_Missense_Mutation_p.A532S|PLCB4_uc010gbx.2_Missense_Mutation_p.A532S|PLCB4_uc002wnf.2_Missense_Mutation_p.A532S|PLCB4_uc002wnh.2_Missense_Mutation_p.A379S	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform a	532					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														0.482759	43.548037	43.555573	14	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9382220	9382220	12456	20	G	T	T	T	598	46	PLCB4	2	2
PLCB4	5332	broad.mit.edu	37	20	9434103	9434103	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9434103A>T	uc002wne.2	+	c.2954A>T	c.(2953-2955)AAG>ATG	p.K985M	PLCB4_uc010gbw.1_Missense_Mutation_p.K985M|PLCB4_uc010gbx.2_Missense_Mutation_p.K997M|PLCB4_uc002wnf.2_Missense_Mutation_p.K985M|PLCB4_uc002wnh.2_Missense_Mutation_p.K832M	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform a	985					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														0.438596	75.165809	75.353317	25	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9434103	9434103	12456	20	A	T	T	T	39	3	PLCB4	3	3
CLDN17	26285	broad.mit.edu	37	21	31538455	31538455	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31538455G>C	uc011acv.1	-	c.481C>G	c.(481-483)CTG>GTG	p.L161V		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	161	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2														0.5	107.850539	107.850539	30	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31538455	31538455	3614	21	G	C	C	C	438	34	CLDN17	3	3
KRTAP24-1	643803	broad.mit.edu	37	21	31654687	31654687	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31654687G>T	uc002ynv.2	-	c.564C>A	c.(562-564)GTC>GTA	p.V188V		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament	structural molecule activity				0														0.353659	156.292545	159.392961	58	106	KEEP	---	---	---	---	capture		Silent	SNP	31654687	31654687	8863	21	G	T	T	T	418	33	KRTAP24-1	2	2
KRTAP13-3	337960	broad.mit.edu	37	21	31797875	31797875	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31797875G>A	uc002yob.1	-	c.356C>T	c.(355-357)TCA>TTA	p.S119L		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	119						intermediate filament				ovary(1)|lung(1)	2														0.444444	57.998287	58.118281	20	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31797875	31797875	8839	21	G	A	A	A	585	45	KRTAP13-3	2	2
KRTAP6-3	337968	broad.mit.edu	37	21	31964886	31964886	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31964886G>C	uc002yom.2	+	c.122G>C	c.(121-123)TGC>TCC	p.C41S		NM_181605	NP_853636			keratin associated protein 6-3												0														0.418182	77.610611	77.933006	23	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31964886	31964886	8893	21	G	C	C	C	598	46	KRTAP6-3	3	3
UBASH3A	53347	broad.mit.edu	37	21	43833623	43833623	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43833623C>T	uc002zbe.2	+	c.658C>T	c.(658-660)CTT>TTT	p.L220F	UBASH3A_uc002zbf.2_Intron|UBASH3A_uc010gpc.2_Intron|UBASH3A_uc010gpd.2_Intron|UBASH3A_uc010gpe.2_Intron	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	220						cytosol|nucleus				ovary(3)	3														0.4	25.896717	26.071431	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43833623	43833623	17396	21	C	T	T	T	312	24	UBASH3A	2	2
AGPAT3	56894	broad.mit.edu	37	21	45400903	45400903	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45400903A>G	uc002zdx.2	+	c.1138A>G	c.(1138-1140)ATG>GTG	p.M380V	AGPAT3_uc002zdv.2_Missense_Mutation_p.M293V|AGPAT3_uc002zdw.2_Missense_Mutation_p.M293V|AGPAT3_uc002zdy.2_Missense_Mutation_p.M231V	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	293	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		Pancreas(60;623 1650 5574 52796)								0.411458	245.885533	247.200234	79	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45400903	45400903	391	21	A	G	G	G	104	8	AGPAT3	4	4
PFKL	5211	broad.mit.edu	37	21	45738419	45738419	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45738419G>A	uc002zel.2	+	c.1003G>A	c.(1003-1005)GTG>ATG	p.V335M	PFKL_uc002zek.2_Missense_Mutation_p.V382M|PFKL_uc002zem.2_5'Flank|PFKL_uc002zen.2_5'Flank	NM_002626	NP_002617	P17858	K6PL_HUMAN	liver phosphofructokinase	335					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding				0				Colorectal(79;0.0811)										0.6	26.876046	27.007014	9	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45738419	45738419	12186	21	G	A	A	A	520	40	PFKL	1	1
CLTCL1	8218	broad.mit.edu	37	22	19171032	19171032	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19171032G>A	uc002zpb.2	-	c.4698C>T	c.(4696-4698)TTC>TTT	p.F1566F	CLTCL1_uc011agv.1_Silent_p.F1509F|CLTCL1_uc011agw.1_Silent_p.F1545F|CLTCL1_uc011agt.1_Silent_p.F357F|CLTCL1_uc011agu.1_Silent_p.F263F	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1566	Proximal segment.|Trimerization (By similarity).|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)									1206				0.333333	49.398264	50.804393	19	38	KEEP	---	---	---	---	capture		Silent	SNP	19171032	19171032	3705	22	G	A	A	A	477	37	CLTCL1	1	1
SEPT5	5413	broad.mit.edu	37	22	19707146	19707146	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19707146G>T	uc002zpv.1	+	c.76G>T	c.(76-78)GGC>TGC	p.G26C	SEPT5_uc002zpw.1_Non-coding_Transcript|SEPT5_uc002zpx.1_Non-coding_Transcript|SEPT5_uc002zpy.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	26					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Colorectal(54;0.0993)									70				0.411765	58.662444	59.009976	21	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19707146	19707146	14553	22	G	T	T	T	559	43	SEPT5	2	2
KLHL22	84861	broad.mit.edu	37	22	20796476	20796476	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:20796476G>C	uc002zsl.1	-	c.1789C>G	c.(1789-1791)CTG>GTG	p.L597V	KLHL22_uc011ahr.1_Missense_Mutation_p.L454V	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	597					cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)											0.176471	10.930142	14.287052	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20796476	20796476	8689	22	G	C	C	C	451	35	KLHL22	3	3
NEFH	4744	broad.mit.edu	37	22	29879485	29879485	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:29879485G>C	uc003afo.2	+	c.1005G>C	c.(1003-1005)CTG>CTC	p.L335L		NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	335	Coil 2B.|Rod.				cell death|nervous system development	neurofilament					0														0.260465	173.297278	184.467698	56	159	KEEP	---	---	---	---	capture		Silent	SNP	29879485	29879485	10713	22	G	C	C	C	574	45	NEFH	3	3
INPP5J	27124	broad.mit.edu	37	22	31522647	31522647	+	Silent	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31522647C>G	uc003aju.3	+	c.1434C>G	c.(1432-1434)CTC>CTG	p.L478L	INPP5J_uc010gwf.2_Silent_p.L478L|INPP5J_uc003ajv.3_Silent_p.L111L|INPP5J_uc003ajs.3_Silent_p.L111L|INPP5J_uc011alk.1_Silent_p.L411L|INPP5J_uc010gwg.2_Silent_p.L43L|INPP5J_uc003ajw.2_5'UTR|INPP5J_uc003ajt.3_Silent_p.L110L|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	478	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1														0.439024	371.086452	371.895523	108	138	KEEP	---	---	---	---	capture		Silent	SNP	31522647	31522647	8060	22	C	G	G	G	405	32	INPP5J	3	3
DEPDC5	9681	broad.mit.edu	37	22	32270283	32270283	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32270283A>G	uc011alu.1	+	c.3588A>G	c.(3586-3588)GAA>GAG	p.E1196E	DEPDC5_uc011als.1_Silent_p.E1096E|DEPDC5_uc003als.2_Silent_p.E1165E|DEPDC5_uc011alv.1_Non-coding_Transcript|DEPDC5_uc003alt.2_Silent_p.E1187E|DEPDC5_uc003alu.2_Silent_p.E614E|DEPDC5_uc003alv.2_Non-coding_Transcript|DEPDC5_uc003alw.2_Silent_p.E463E|DEPDC5_uc011alx.1_Silent_p.E13E|DEPDC5_uc010gwk.2_Silent_p.E191E|DEPDC5_uc011aly.1_Silent_p.E13E	NM_001136029	NP_001129501	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 3	1165	DEP.				intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8														0.125	4.13914	6.3365	2	14	KEEP	---	---	---	---	capture		Silent	SNP	32270283	32270283	4621	22	A	G	G	G	24	2	DEPDC5	4	4
SLC5A1	6523	broad.mit.edu	37	22	32495224	32495224	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32495224G>T	uc003amc.2	+	c.1335G>T	c.(1333-1335)CAG>CAT	p.Q445H	SLC5A1_uc011alz.1_Missense_Mutation_p.Q318H	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	445	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding				0														0.391437	373.913502	377.293355	128	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32495224	32495224	15158	22	G	T	T	T	464	36	SLC5A1	2	2
MCM5	4174	broad.mit.edu	37	22	35802719	35802719	+	Splice_Site_SNP	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:35802719G>A	uc003anu.3	+	c.596_splice	c.e5+1	p.T199_splice	MCM5_uc010gwr.2_Splice_Site_SNP_p.H9_splice|MCM5_uc003anv.3_Splice_Site_SNP_p.T156_splice|MCM5_uc010gws.1_5'Flank	NM_006739	NP_006730			minichromosome maintenance complex component 5						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|DNA binding|helicase activity|protein binding			ovary(1)	1														0.103448	4.706682	13.788611	6	52	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	35802719	35802719	9779	22	G	A	A	A	520	40	MCM5	5	1
PICK1	9463	broad.mit.edu	37	22	38470903	38470903	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38470903G>C	uc003auq.2	+	c.1012G>C	c.(1012-1014)GTG>CTG	p.V338L	PICK1_uc003aur.2_Missense_Mutation_p.V338L|PICK1_uc003aus.2_Missense_Mutation_p.V338L|PICK1_uc003aut.2_Missense_Mutation_p.V338L	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	338	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)													0.285714	56.030096	58.622325	18	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38470903	38470903	12305	22	G	C	C	C	520	40	PICK1	3	3
ENTHD1	150350	broad.mit.edu	37	22	40231877	40231877	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40231877G>T	uc003ayg.2	-	c.679C>A	c.(679-681)CCA>ACA	p.P227T		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	227										ovary(2)	2	Melanoma(58;0.0749)													0.428571	301.421645	302.514577	105	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40231877	40231877	5330	22	G	T	T	T	533	41	ENTHD1	2	2
L3MBTL2	83746	broad.mit.edu	37	22	41609955	41609955	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41609955G>C	uc003azo.2	+	c.321G>C	c.(319-321)AAG>AAC	p.K107N	L3MBTL2_uc010gyi.1_Missense_Mutation_p.K16N|L3MBTL2_uc003azn.2_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	107	FCS-type.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3														0.410072	197.523254	198.511279	57	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41609955	41609955	8915	22	G	C	C	C	425	33	L3MBTL2	3	3
FBLN1	2192	broad.mit.edu	37	22	45944567	45944567	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45944567C>T	uc010gzz.2	+	c.1630C>T	c.(1630-1632)CAG>TAG	p.Q544*	FBLN1_uc003bgg.1_Nonsense_Mutation_p.Q506*|FBLN1_uc003bgh.2_Nonsense_Mutation_p.Q506*|FBLN1_uc003bgi.1_Nonsense_Mutation_p.Q506*|FBLN1_uc003bgj.1_Nonsense_Mutation_p.Q506*	NM_001996	NP_001987	P23142	FBLN1_HUMAN	fibulin 1 isoform C precursor	506	EGF-like 8; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)										0.425	50.968396	51.164629	17	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45944567	45944567	5934	22	C	T	T	T	273	21	FBLN1	5	2
CELSR1	9620	broad.mit.edu	37	22	46785372	46785372	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46785372T>C	uc003bhw.1	-	c.6370A>G	c.(6370-6372)ACG>GCG	p.T2124A	CELSR1_uc011arc.1_Missense_Mutation_p.T445A	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2124	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)										0.7	75.226186	76.280036	21	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46785372	46785372	3354	22	T	C	C	C	754	58	CELSR1	4	4
MOV10L1	54456	broad.mit.edu	37	22	50563913	50563913	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50563913G>T	uc003bjj.2	+	c.1662G>T	c.(1660-1662)ATG>ATT	p.M554I	MOV10L1_uc003bjk.3_Missense_Mutation_p.M554I|MOV10L1_uc011arp.1_Missense_Mutation_p.M534I|MOV10L1_uc011arq.1_Missense_Mutation_p.M315I|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	554					germ cell development|multicellular organismal development|spermatogenesis	intracellular	ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)	2		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)										0.802632	196.911163	203.389328	61	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50563913	50563913	10111	22	G	T	T	T	585	45	MOV10L1	2	2
IL18RAP	8807	broad.mit.edu	37	2	103057795	103057795	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103057795G>T	uc002tbx.2	+	c.754G>T	c.(754-756)GAT>TAT	p.D252Y	IL18RAP_uc010fiz.2_Missense_Mutation_p.D110Y	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	252	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			ovary(2)	2														0.4	93.524122	94.269923	34	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103057795	103057795	7949	2	G	T	T	T	429	33	IL18RAP	2	2
HPCAL1	3241	broad.mit.edu	37	2	10560020	10560020	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:10560020A>C	uc002raj.2	+	c.137A>C	c.(136-138)GAC>GCC	p.D46A	HPCAL1_uc002rak.2_Missense_Mutation_p.D46A|HPCAL1_uc002ral.2_Missense_Mutation_p.D46A|HPCAL1_uc010exe.2_Non-coding_Transcript|HPCAL1_uc010exf.2_Missense_Mutation_p.D46A	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	46	EF-hand 1.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		Pancreas(70;1384 1800 31595 46836)								0.122807	8.287629	16.229993	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10560020	10560020	7622	2	A	C	C	C	130	10	HPCAL1	4	4
GCC2	9648	broad.mit.edu	37	2	109087635	109087635	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:109087635G>T	uc002tec.2	+	c.1850G>T	c.(1849-1851)TGT>TTT	p.C617F	GCC2_uc002ted.2_Missense_Mutation_p.C516F	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	617	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														0.529412	58.352019	58.37762	18	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109087635	109087635	6552	2	G	T	T	T	624	48	GCC2	2	2
IL1F7	27178	broad.mit.edu	37	2	113675249	113675249	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113675249C>T	uc002tij.2	+	c.303C>T	c.(301-303)GCC>GCT	p.A101A	IL1F7_uc002tik.2_Silent_p.A80A|IL1F7_uc002til.2_Silent_p.A61A|IL1F7_uc002tim.2_Silent_p.A40A|IL1F7_uc002tin.2_Silent_p.A75A	NM_014439	NP_055254	Q9NZH6	IL1F7_HUMAN	interleukin 1 family, member 7 isoform 1	101					immune response	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			ovary(1)	1														0.383908	526.060155	531.220797	167	268	KEEP	---	---	---	---	capture		Silent	SNP	113675249	113675249	7956	2	C	T	T	T	301	24	IL1F7	2	2
ROCK2	9475	broad.mit.edu	37	2	11484214	11484214	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11484214C>A	uc002rbd.1	-	c.49G>T	c.(49-51)GCG>TCG	p.A17S		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	17					axon guidance|cytokinesis|intracellular signal transduction|protein phosphorylation	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			skin(2)|stomach(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)						587				0.65	45.381252	45.778408	13	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11484214	11484214	13997	2	C	A	A	A	351	27	ROCK2	1	1
DPP10	57628	broad.mit.edu	37	2	116525913	116525913	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:116525913T>C	uc002tle.2	+	c.1166T>C	c.(1165-1167)TTT>TCT	p.F389S	DPP10_uc002tla.1_Missense_Mutation_p.F385S|DPP10_uc002tlb.1_Missense_Mutation_p.F335S|DPP10_uc002tlc.1_Missense_Mutation_p.F381S|DPP10_uc002tlf.1_Missense_Mutation_p.F378S	NM_001004360	NP_001004360	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform short	385	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|breast(1)|skin(1)	9														0.409091	64.945942	65.262535	18	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116525913	116525913	4911	2	T	C	C	C	832	64	DPP10	4	4
DDX18	8886	broad.mit.edu	37	2	118579625	118579626	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:118579625_118579626GG>TT	uc002tlh.1	+	c.939_940GG>TT	c.(937-942)CTGGAC>CTTTAC	p.D314Y		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	314	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4														0.362069	125.37765	127.295181	42	74	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	118579625	118579626	4516	2	GG	TT	TT	TT	600	47	DDX18	2	2
CNTNAP5	129684	broad.mit.edu	37	2	125660661	125660661	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125660661G>C	uc010flu.2	+	c.3639G>C	c.(3637-3639)ACG>ACC	p.T1213T	CNTNAP5_uc002tno.2_Silent_p.T1212T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1212	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.4	6.449084	6.492795	2	3	KEEP	---	---	---	---	capture		Silent	SNP	125660661	125660661	3788	2	G	C	C	C	496	39	CNTNAP5	3	3
MYO7B	4648	broad.mit.edu	37	2	128381781	128381781	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128381781C>T	uc002top.2	+	c.3855C>T	c.(3853-3855)TTC>TTT	p.F1285F	MYO7B_uc002toq.1_Silent_p.F138F|MYO7B_uc002tor.1_Silent_p.F138F	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1285	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)										0.5	18.149093	18.149093	6	6	KEEP	---	---	---	---	capture		Silent	SNP	128381781	128381781	10478	2	C	T	T	T	389	30	MYO7B	2	2
AMMECR1L	83607	broad.mit.edu	37	2	128628438	128628438	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128628438C>G	uc002tpl.2	-	c.583G>C	c.(583-585)GTC>CTC	p.V195L	AMMECR1L_uc002tpm.2_Missense_Mutation_p.V195L	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	195	AMMECR1.									central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)										0.380952	56.690486	57.212525	16	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128628438	128628438	582	2	C	G	G	G	221	17	AMMECR1L	3	3
FAM168B	130074	broad.mit.edu	37	2	131829459	131829459	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131829459C>A	uc002tsd.2	-	c.123G>T	c.(121-123)ATG>ATT	p.M41I		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	hypothetical protein LOC130074	41											0														0.393443	74.285711	74.892507	24	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131829459	131829459	5690	2	C	A	A	A	221	17	FAM168B	2	2
CCNT2	905	broad.mit.edu	37	2	135677405	135677405	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135677405A>G	uc002tuc.1	+	c.184A>G	c.(184-186)ATT>GTT	p.I62V	CCNT2_uc002tub.1_Missense_Mutation_p.I62V|CCNT2_uc010zbf.1_5'UTR|CCNT2_uc002tud.1_5'UTR	NM_058241	NP_490595	O60583	CCNT2_HUMAN	cyclin T2 isoform b	62					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)										0.396226	144.424617	145.424319	42	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135677405	135677405	3062	2	A	G	G	G	156	12	CCNT2	4	4
LCT	3938	broad.mit.edu	37	2	136594643	136594643	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136594643C>T	uc002tuu.1	-	c.97G>A	c.(97-99)GGT>AGT	p.G33S		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	33	Extracellular (Potential).				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.428571	91.336824	91.64877	30	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136594643	136594643	9017	2	C	T	T	T	273	21	LCT	2	2
THSD7B	80731	broad.mit.edu	37	2	137988779	137988779	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:137988779G>T	uc002tva.1	+	c.1796G>T	c.(1795-1797)AGA>ATA	p.R599I	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.R489I	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.333333	15.854977	16.404207	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137988779	137988779	16408	2	G	T	T	T	429	33	THSD7B	2	2
LRP1B	53353	broad.mit.edu	37	2	141459344	141459344	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141459344C>A	uc002tvj.1	-	c.6373G>T	c.(6373-6375)GGC>TGC	p.G2125C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2125	Extracellular (Potential).				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)			0.382716	94.80652	95.78337	31	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141459344	141459344	9328	2	C	A	A	A	299	23	LRP1B	1	1
NEB	4703	broad.mit.edu	37	2	152423688	152423688	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152423688C>T	uc010fnx.2	-	c.13047G>A	c.(13045-13047)CAG>CAA	p.Q4349Q	NEB_uc002txr.2_Silent_p.Q772Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4349	Nebulin 119.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.330357	103.833412	106.691851	37	75	KEEP	---	---	---	---	capture		Silent	SNP	152423688	152423688	10701	2	C	T	T	T	415	32	NEB	2	2
NBAS	51594	broad.mit.edu	37	2	15555687	15555687	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15555687G>A	uc002rcc.1	-	c.2920C>T	c.(2920-2922)CAG>TAG	p.Q974*	NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	974										ovary(2)|liver(1)	3														0.321429	47.226123	48.814407	18	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	15555687	15555687	10582	2	G	A	A	A	585	45	NBAS	5	2
SCN3A	6328	broad.mit.edu	37	2	165987863	165987863	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165987863T>C	uc002ucx.2	-	c.2456A>G	c.(2455-2457)TAT>TGT	p.Y819C	SCN3A_uc002ucy.2_Missense_Mutation_p.Y770C|SCN3A_uc002ucz.2_Missense_Mutation_p.Y770C|SCN3A_uc002uda.1_Missense_Mutation_p.Y639C|SCN3A_uc002udb.1_Missense_Mutation_p.Y639C	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	819						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.465116	148.000079	148.090453	40	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165987863	165987863	14400	2	T	C	C	C	637	49	SCN3A	4	4
SCN2A	6326	broad.mit.edu	37	2	166183487	166183487	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166183487C>A	uc002udc.2	+	c.2142C>A	c.(2140-2142)ACC>ACA	p.T714T	SCN2A_uc002udd.2_Silent_p.T714T|SCN2A_uc002ude.2_Silent_p.T714T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	714					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.049587	-13.559907	12.502093	6	115	KEEP	---	---	---	---	capture		Silent	SNP	166183487	166183487	14398	2	C	A	A	A	262	21	SCN2A	2	2
TTC21B	79809	broad.mit.edu	37	2	166747500	166747500	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166747500T>A	uc002udk.2	-	c.2951_splice	c.e23-1	p.D984_splice	TTC21B_uc002udj.1_Splice_Site_SNP	NM_024753	NP_079029			tetratricopeptide repeat domain 21B							cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5														0.384615	30.34471	30.647898	10	16	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	166747500	166747500	17242	2	T	A	A	A	689	53	TTC21B	5	3
SCN7A	6332	broad.mit.edu	37	2	167318937	167318937	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167318937A>C	uc002udu.1	-	c.1045T>G	c.(1045-1047)TTA>GTA	p.L349V	SCN7A_uc010fpm.1_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	349					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.611111	40.229332	40.423994	11	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167318937	167318937	14405	2	A	C	C	C	24	2	SCN7A	4	4
LRP2	4036	broad.mit.edu	37	2	170002408	170002408	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170002408G>A	uc002ues.2	-	c.12837C>T	c.(12835-12837)ATC>ATT	p.I4279I		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4279	LDL-receptor class B 37.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.390625	76.159307	76.830431	25	39	KEEP	---	---	---	---	capture		Silent	SNP	170002408	170002408	9329	2	G	A	A	A	421	33	LRP2	2	2
PPIG	9360	broad.mit.edu	37	2	170489708	170489708	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170489708G>C	uc002uez.2	+	c.968G>C	c.(967-969)CGA>CCA	p.R323P	PPIG_uc010fpx.2_Missense_Mutation_p.R308P|PPIG_uc010fpy.2_Missense_Mutation_p.R316P|PPIG_uc002ufa.2_Missense_Mutation_p.R323P|PPIG_uc002ufb.2_Missense_Mutation_p.R323P|PPIG_uc002ufd.2_Missense_Mutation_p.R320P	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	323					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)									0.521127	139.980095	140.007691	37	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170489708	170489708	12759	2	G	C	C	C	481	37	PPIG	3	3
PHOSPHO2	493911	broad.mit.edu	37	2	170557488	170557488	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170557488A>G	uc002ufg.2	+	c.7A>G	c.(7-9)ATT>GTT	p.I3V	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	3							metal ion binding|pyridoxal phosphatase activity				0														0.5	113.156933	113.156933	30	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170557488	170557488	12281	2	A	G	G	G	52	4	PHOSPHO2	4	4
GAD1	2571	broad.mit.edu	37	2	171716263	171716263	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171716263C>A	uc002ugi.2	+	c.1656C>A	c.(1654-1656)ACC>ACA	p.T552T	GAD1_uc010fqc.2_Silent_p.T171T	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	552					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)									0.333333	39.241868	40.272177	14	28	KEEP	---	---	---	---	capture		Silent	SNP	171716263	171716263	6430	2	C	A	A	A	262	21	GAD1	2	2
HOXD9	3235	broad.mit.edu	37	2	176987735	176987735	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176987735C>A	uc010zex.1	+	c.239C>A	c.(238-240)TCC>TAC	p.S80Y		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	80						nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|transcription activator activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GBM(47;924 952 7959 9248 12176)								0.416667	12.670558	12.743796	5	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176987735	176987735	7618	2	C	A	A	A	390	30	HOXD9	2	2
AGPS	8540	broad.mit.edu	37	2	178378551	178378551	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178378551G>T	uc002ull.2	+	c.1612G>T	c.(1612-1614)GTA>TTA	p.V538L	AGPS_uc010zfb.1_Missense_Mutation_p.V448L	NM_003659	NP_003650	O00116	ADAS_HUMAN	alkyldihydroxyacetone phosphate synthase	538					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)											0.206349	29.742099	34.776524	13	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178378551	178378551	397	2	G	T	T	T	572	44	AGPS	2	2
FKBP7	51661	broad.mit.edu	37	2	179343127	179343127	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179343127C>T	uc002umk.2	-	c.100G>A	c.(100-102)GAA>AAA	p.E34K	FKBP7_uc002umm.2_Missense_Mutation_p.E34K|FKBP7_uc002uml.2_Non-coding_Transcript|FKBP7_uc010zff.1_Missense_Mutation_p.E30K|PLEKHA3_uc002umn.2_5'Flank	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7 isoform a precursor	34					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			Melanoma(26;682 927 5286 17599 46613)								0.39485	271.142043	273.399574	92	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179343127	179343127	6151	2	C	T	T	T	416	32	FKBP7	2	2
TTN	7273	broad.mit.edu	37	2	179422207	179422208	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179422207_179422208GG>TT	uc010zfg.1	-	c.80077_80078CC>AA	c.(80077-80079)CCA>AAA	p.P26693K	TTN_uc010zfh.1_Missense_Mutation_p.P20388K|TTN_uc010zfi.1_Missense_Mutation_p.P20321K|TTN_uc010zfj.1_Missense_Mutation_p.P20196K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3093										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				0.426966	117.82827	118.243774	38	51	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	179422207	179422208	17290	2	GG	TT	TT	TT	611	47	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179427123	179427123	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179427123G>T	uc010zfg.1	-	c.76032C>A	c.(76030-76032)ACC>ACA	p.T25344T	TTN_uc010zfh.1_Silent_p.T19039T|TTN_uc010zfi.1_Silent_p.T18972T|TTN_uc010zfj.1_Silent_p.T18847T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3016										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				0.393162	134.820041	135.990707	46	71	KEEP	---	---	---	---	capture		Silent	SNP	179427123	179427123	17290	2	G	T	T	T	444	35	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179431317	179431317	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179431317A>G	uc010zfg.1	-	c.71838T>C	c.(71836-71838)GAT>GAC	p.D23946D	TTN_uc010zfh.1_Silent_p.D17641D|TTN_uc010zfi.1_Silent_p.D17574D|TTN_uc010zfj.1_Silent_p.D17449D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2628										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				0.399381	396.316501	399.17417	129	194	KEEP	---	---	---	---	capture		Silent	SNP	179431317	179431317	17290	2	A	G	G	G	102	8	TTN	4	4
TTN	7273	broad.mit.edu	37	2	179441840	179441840	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179441840G>A	uc010zfg.1	-	c.61518C>T	c.(61516-61518)TCC>TCT	p.S20506S	TTN_uc010zfh.1_Silent_p.S14201S|TTN_uc010zfi.1_Silent_p.S14134S|TTN_uc010zfj.1_Silent_p.S14009S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2478										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				0.426829	111.811949	112.19499	35	47	KEEP	---	---	---	---	capture		Silent	SNP	179441840	179441840	17290	2	G	A	A	A	444	35	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179456358	179456358	+	Missense_Mutation	SNP	G	C	C	rs1560220		TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179456358G>C	uc010zfg.1	-	c.52484C>G	c.(52483-52485)ACA>AGA	p.T17495R	TTN_uc010zfh.1_Missense_Mutation_p.T11190R|TTN_uc010zfi.1_Missense_Mutation_p.T11123R|TTN_uc010zfj.1_Missense_Mutation_p.T10998R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	91										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				0.3663	355.3295	359.620605	100	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179456358	179456358	17290	2	G	C	C	C	624	48	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179583172	179583172	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179583172T>C	uc010zfg.1	-	c.20929A>G	c.(20929-20931)ATG>GTG	p.M6977V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M3638V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3289										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				0.436364	86.896963	87.090219	24	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179583172	179583172	17290	2	T	C	C	C	637	49	TTN	4	4
TTN	7273	broad.mit.edu	37	2	179640522	179640522	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179640522C>A	uc010zfg.1	-	c.6069G>T	c.(6067-6069)AAG>AAT	p.K2023N	TTN_uc010zfh.1_Missense_Mutation_p.K1977N|TTN_uc010zfi.1_Missense_Mutation_p.K1977N|TTN_uc010zfj.1_Missense_Mutation_p.K1977N|TTN_uc002unb.2_Missense_Mutation_p.K2023N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2023										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				0.427835	249.312863	250.18919	83	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179640522	179640522	17290	2	C	A	A	A	311	24	TTN	2	2
CCDC141	285025	broad.mit.edu	37	2	179732787	179732787	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179732787A>G	uc002unf.1	-	c.815T>C	c.(814-816)TTA>TCA	p.L272S		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	272							protein binding			ovary(7)|pancreas(2)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.466667	126.723955	126.796015	35	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179732787	179732787	2895	2	A	G	G	G	169	13	CCDC141	4	4
ZNF804A	91752	broad.mit.edu	37	2	185800564	185800564	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185800564C>A	uc002uph.2	+	c.441C>A	c.(439-441)AAC>AAA	p.N147K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	147						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.348485	65.703265	67.041282	23	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185800564	185800564	18768	2	C	A	A	A	259	20	ZNF804A	2	2
COL3A1	1281	broad.mit.edu	37	2	189872840	189872840	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189872840G>A	uc002uqj.1	+	c.3497G>A	c.(3496-3498)CGA>CAA	p.R1166Q		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1166	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)					1079				0.5	37.098574	37.098574	12	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189872840	189872840	3826	2	G	A	A	A	481	37	COL3A1	1	1
COL5A2	1290	broad.mit.edu	37	2	189929300	189929300	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189929300C>A	uc002uqk.2	-	c.1699G>T	c.(1699-1701)GGG>TGG	p.G567W	COL5A2_uc010frx.2_Missense_Mutation_p.G143W	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	567					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.285714	42.675105	44.983821	16	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189929300	189929300	3835	2	C	A	A	A	273	21	COL5A2	2	2
WDR75	84128	broad.mit.edu	37	2	190315685	190315685	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:190315685C>T	uc002uql.1	+	c.273C>T	c.(271-273)ATC>ATT	p.I91I	WDR75_uc002uqm.1_Silent_p.I27I|WDR75_uc002uqn.1_5'UTR	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	91	WD 2.					nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)											0.333333	163.020398	166.932697	53	106	KEEP	---	---	---	---	capture		Silent	SNP	190315685	190315685	17898	2	C	T	T	T	408	32	WDR75	2	2
MYT1L	23040	broad.mit.edu	37	2	1926072	1926073	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1926072_1926073GG>TT	uc002qxe.2	-	c.1468_1469CC>AA	c.(1468-1470)CCA>AAA	p.P490K	MYT1L_uc002qxd.2_Missense_Mutation_p.P490K|MYT1L_uc010ewl.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	490					cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.373494	90.701574	91.869102	31	52	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	1926072	1926073	10502	2	GG	TT	TT	TT	611	47	MYT1L	2	2
WDR35	57539	broad.mit.edu	37	2	20113375	20113375	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20113375C>A	uc002rdi.2	-	c.3490G>T	c.(3490-3492)GCT>TCT	p.A1164S	WDR35_uc002rdj.2_Missense_Mutation_p.A1153S|WDR35_uc010ext.2_Non-coding_Transcript|WDR35_uc002rdh.2_Missense_Mutation_p.L556F	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	1164										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.413043	162.047026	162.977813	57	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20113375	20113375	17862	2	C	A	A	A	325	25	WDR35	2	2
ZDBF2	57683	broad.mit.edu	37	2	207169613	207169613	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207169613C>A	uc002vbp.2	+	c.361C>A	c.(361-363)CCT>ACT	p.P121T		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	121							nucleic acid binding|zinc ion binding			ovary(3)	3														0.45	53.547268	53.633923	18	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207169613	207169613	18187	2	C	A	A	A	234	18	ZDBF2	2	2
FASTKD2	22868	broad.mit.edu	37	2	207652825	207652826	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207652825_207652826GG>TT	uc002vbu.2	+	c.1759_1760GG>TT	c.(1759-1761)GGA>TTA	p.G587L	FASTKD2_uc002vbv.2_Missense_Mutation_p.G587L|FASTKD2_uc002vbx.2_Missense_Mutation_p.G587L|FASTKD2_uc002vbw.1_Missense_Mutation_p.G587L	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	587					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)	2				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)										0.432432	49.486965	49.635488	16	21	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	207652825	207652826	5922	2	GG	TT	TT	TT	559	43	FASTKD2	2	2
CRYGC	1420	broad.mit.edu	37	2	208993022	208993022	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:208993022A>G	uc002vco.3	-	c.430T>C	c.(430-432)TAC>CAC	p.Y144H		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	144	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)										0.438095	152.345742	152.693948	46	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	208993022	208993022	4055	2	A	G	G	G	208	16	CRYGC	4	4
UNC80	285175	broad.mit.edu	37	2	210642194	210642194	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210642194G>T	uc010zjc.1	+	c.511G>T	c.(511-513)GAG>TAG	p.E171*	UNC80_uc002vdj.1_Nonsense_Mutation_p.E171*	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	chromosome 2 open reading frame 21 isoform 1	171						integral to membrane					0														0.456376	192.240691	192.491992	68	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	210642194	210642194	17554	2	G	T	T	T	429	33	UNC80	5	2
ERBB4	2066	broad.mit.edu	37	2	212288914	212288914	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:212288914G>T	uc002veg.1	-	c.2832C>A	c.(2830-2832)ATC>ATA	p.I944I	ERBB4_uc002veh.1_Silent_p.I944I|ERBB4_uc010zji.1_Silent_p.I934I|ERBB4_uc010zjj.1_Silent_p.I934I	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	944	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(12)|large_intestine(1)|breast(1)	14		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)						777	TSP Lung(8;0.080)			0.355932	57.754639	58.835154	21	38	KEEP	---	---	---	---	capture		Silent	SNP	212288914	212288914	5402	2	G	T	T	T	421	33	ERBB4	2	2
TTLL4	9654	broad.mit.edu	37	2	219602866	219602866	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219602866G>C	uc002viy.2	+	c.467G>C	c.(466-468)AGT>ACT	p.S156T	TTLL4_uc010zkl.1_5'UTR|TTLL4_uc010fvx.2_Missense_Mutation_p.S156T	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	156					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)	2		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GBM(172;1818 2053 15407 20943 49753)								0.468468	357.977185	358.169723	104	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219602866	219602866	17284	2	G	C	C	C	468	36	TTLL4	3	3
DNAJB2	3300	broad.mit.edu	37	2	220149663	220149663	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220149663G>C	uc002vkx.1	+	c.929G>C	c.(928-930)CGC>CCC	p.R310P	DNAJB2_uc002vkw.1_Intron|DNAJB2_uc002vky.2_Intron|DNAJB2_uc010zlb.1_Missense_Mutation_p.R126P	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	310					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.434783	36.147924	36.233006	10	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220149663	220149663	4803	2	G	C	C	C	494	38	DNAJB2	3	3
GMPPA	29926	broad.mit.edu	37	2	220368852	220368852	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220368852C>G	uc002vlt.2	+	c.537C>G	c.(535-537)ATC>ATG	p.I179M	GMPPA_uc002vlr.2_Missense_Mutation_p.I179M|GMPPA_uc002vls.2_Missense_Mutation_p.I179M|GMPPA_uc002vlu.2_Missense_Mutation_p.I179M|GMPPA_uc002vlv.2_Missense_Mutation_p.I179M|GMPPA_uc002vlw.2_Non-coding_Transcript|GMPPA_uc002vlx.2_Missense_Mutation_p.I179M	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	179					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)										0.292776	240.761637	250.878617	77	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220368852	220368852	6763	2	C	G	G	G	369	29	GMPPA	3	3
COL4A4	1286	broad.mit.edu	37	2	228004926	228004926	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228004926C>G	uc010zlt.1	-	c.143G>C	c.(142-144)GGA>GCA	p.G48A		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	48	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|breast(1)|pancreas(1)	10		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)										0.285714	55.099203	57.713426	18	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228004926	228004926	3831	2	C	G	G	G	390	30	COL4A4	3	3
COL4A3	1285	broad.mit.edu	37	2	228173983	228173983	+	Silent	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228173983T>C	uc002vom.1	+	c.4704T>C	c.(4702-4704)CCT>CCC	p.P1568P	COL4A3_uc002von.1_Silent_p.P1568P|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|COL4A3_uc010fxf.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1568	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)										0.510638	83.915685	83.920955	24	23	KEEP	---	---	---	---	capture		Silent	SNP	228173983	228173983	3829	2	T	C	C	C	691	54	COL4A3	4	4
PID1	55022	broad.mit.edu	37	2	229890756	229890756	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:229890756G>A	uc002vpr.3	-	c.345C>T	c.(343-345)GTC>GTT	p.V115V	PID1_uc002vps.3_Silent_p.V113V|PID1_uc002vpt.3_Silent_p.V82V|PID1_uc002vpu.3_Silent_p.V33V	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	115	PID.					cytoplasm				breast(3)	3		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)										0.383929	117.090432	118.416025	43	69	KEEP	---	---	---	---	capture		Silent	SNP	229890756	229890756	12306	2	G	A	A	A	574	45	PID1	2	2
TRPM8	79054	broad.mit.edu	37	2	234846051	234846051	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234846051G>T	uc002vvh.2	+	c.246G>T	c.(244-246)CAG>CAT	p.Q82H	TRPM8_uc010fyj.2_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.Q32H|TRPM8_uc002vvj.3_Missense_Mutation_p.Q5H	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	82	Cytoplasmic (Potential).					integral to membrane					0		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)					505				0.465753	197.282208	197.431535	68	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234846051	234846051	17143	2	G	T	T	T	425	33	TRPM8	2	2
AGAP1	116987	broad.mit.edu	37	2	236957706	236957706	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:236957706C>T	uc002vvs.2	+	c.1895C>T	c.(1894-1896)CCC>CTC	p.P632L	AGAP1_uc002vvt.2_Missense_Mutation_p.P579L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	632	C4-type.|Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)	2														0.438776	138.611404	138.931614	43	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236957706	236957706	368	2	C	T	T	T	286	22	AGAP1	2	2
COL6A3	1293	broad.mit.edu	37	2	238280656	238280656	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238280656C>A	uc002vwl.2	-	c.4004G>T	c.(4003-4005)GGC>GTC	p.G1335V	COL6A3_uc002vwo.2_Missense_Mutation_p.G1129V|COL6A3_uc010znj.1_Missense_Mutation_p.G728V|COL6A3_uc002vwq.2_Missense_Mutation_p.G1129V|COL6A3_uc002vwr.2_Missense_Mutation_p.G928V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1335	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.459459	50.369709	50.422833	17	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238280656	238280656	3839	2	C	A	A	A	338	26	COL6A3	2	2
PPP1R7	5510	broad.mit.edu	37	2	242097260	242097260	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242097260C>G	uc002wat.1	+	c.220C>G	c.(220-222)CTG>GTG	p.L74V	PPP1R7_uc010fzm.1_Missense_Mutation_p.L58V|PPP1R7_uc002war.2_Missense_Mutation_p.L74V|PPP1R7_uc002was.2_Missense_Mutation_p.L74V|PPP1R7_uc002wau.1_Missense_Mutation_p.L31V|PPP1R7_uc002wav.1_Missense_Mutation_p.L6V	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	74						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(2)	2		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		NSCLC(62;446 1299 5417 11238 27640)								0.5	36.897639	36.897639	12	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242097260	242097260	12812	2	C	G	G	G	311	24	PPP1R7	3	3
CIB4	130106	broad.mit.edu	37	2	26806683	26806683	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26806683C>T	uc002rhm.2	-	c.412G>A	c.(412-414)GAC>AAC	p.D138N		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	138	EF-hand 3.						calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.423358	170.126342	170.828252	58	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26806683	26806683	3557	2	C	T	T	T	390	30	CIB4	2	2
EMILIN1	11117	broad.mit.edu	37	2	27303608	27303608	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27303608G>A	uc002rii.3	+	c.299G>A	c.(298-300)CGC>CAC	p.R100H	EMILIN1_uc010eyq.1_Missense_Mutation_p.R100H|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	100	EMI.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.692308	28.775653	29.203446	9	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27303608	27303608	5285	2	G	A	A	A	494	38	EMILIN1	1	1
EMILIN1	11117	broad.mit.edu	37	2	27306454	27306454	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27306454G>A	uc002rii.3	+	c.2015G>A	c.(2014-2016)GGC>GAC	p.G672D	EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	672					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.470588	163.099004	163.18713	56	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27306454	27306454	5285	2	G	A	A	A	546	42	EMILIN1	2	2
SLC4A1AP	22950	broad.mit.edu	37	2	27886959	27886959	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27886959G>A	uc002rlk.3	+	c.340G>A	c.(340-342)GGG>AGG	p.G114R	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	114				SNSGE -> PIAKP (in Ref. 6; AAN12269).		cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)													0.468254	174.174263	174.287316	59	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27886959	27886959	15150	2	G	A	A	A	611	47	SLC4A1AP	2	2
PLB1	151056	broad.mit.edu	37	2	28855839	28855839	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28855839C>T	uc002rmb.1	+	c.4031C>T	c.(4030-4032)TCC>TTC	p.S1344F	PLB1_uc010ezj.1_Missense_Mutation_p.S1333F|PLB1_uc002rme.1_Missense_Mutation_p.S309F|PLB1_uc002rmf.1_Non-coding_Transcript	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1344	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.371134	104.007272	105.409593	36	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28855839	28855839	12450	2	C	T	T	T	390	30	PLB1	2	2
ALK	238	broad.mit.edu	37	2	30143288	30143288	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:30143288G>T	uc002rmy.2	-	c.238C>A	c.(238-240)CTG>ATG	p.L80M		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	80	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.411765	20.621252	20.73703	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30143288	30143288	528	2	G	T	T	T	438	34	ALK	2	2
SRD5A2	6716	broad.mit.edu	37	2	31805958	31805958	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31805958C>A	uc002rnw.1	-	c.12G>T	c.(10-12)CAG>CAT	p.Q4H		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	4					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)									0.384615	26.637695	26.943021	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31805958	31805958	15653	2	C	A	A	A	259	20	SRD5A2	2	2
TTC27	55622	broad.mit.edu	37	2	32897384	32897384	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32897384G>C	uc002rom.2	+	c.985G>C	c.(985-987)GCA>CCA	p.A329P	TTC27_uc010ymx.1_Missense_Mutation_p.A279P	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	329							protein binding			central_nervous_system(1)	1														0.351759	236.992415	240.848885	70	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32897384	32897384	17249	2	G	C	C	C	442	34	TTC27	3	3
SLC8A1	6546	broad.mit.edu	37	2	40656956	40656956	+	Silent	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40656956T>C	uc002rrx.2	-	c.465A>G	c.(463-465)GAA>GAG	p.E155E	SLC8A1_uc002rry.2_Silent_p.E155E|SLC8A1_uc002rrz.2_Silent_p.E155E|SLC8A1_uc002rsa.2_Silent_p.E155E|SLC8A1_uc002rsd.3_Silent_p.E155E|SLC8A1_uc002rsb.1_Silent_p.E155E|SLC8A1_uc010fan.1_Silent_p.E155E|SLC8A1_uc002rsc.1_Silent_p.E155E	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	155	Helical; (Potential).|Alpha-1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.42268	139.06243	139.567696	41	56	KEEP	---	---	---	---	capture		Silent	SNP	40656956	40656956	15203	2	T	C	C	C	725	56	SLC8A1	4	4
SIX3	6496	broad.mit.edu	37	2	45170024	45170024	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:45170024G>T	uc002run.1	+	c.781G>T	c.(781-783)GAC>TAC	p.D261Y		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	261	Homeobox.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.333333	32.212409	33.257535	14	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45170024	45170024	14843	2	G	T	T	T	481	37	SIX3	1	1
PAPOLG	64895	broad.mit.edu	37	2	60987327	60987327	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:60987327A>T	uc002sai.2	+	c.76A>T	c.(76-78)AGT>TGT	p.S26C	PAPOLG_uc002saj.2_5'UTR|PAPOLG_uc002sak.2_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	26					mRNA processing|RNA polyadenylation	nucleus	ATP binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GBM(183;1497 2932 21839 46797)								0.5	128.648838	128.648838	42	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60987327	60987327	11848	2	A	T	T	T	195	15	PAPOLG	3	3
KIAA1841	84542	broad.mit.edu	37	2	61315512	61315512	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61315512C>A	uc002saw.3	+	c.997C>A	c.(997-999)CTT>ATT	p.L333I	KIAA1841_uc002sax.3_Missense_Mutation_p.L187I|KIAA1841_uc002say.2_Missense_Mutation_p.L333I|KIAA1841_uc002sav.3_Missense_Mutation_p.L333I	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	333											0			Epithelial(17;0.193)											0.311111	38.93748	40.365228	14	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61315512	61315512	8572	2	C	A	A	A	260	20	KIAA1841	2	2
AFTPH	54812	broad.mit.edu	37	2	64794785	64794785	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:64794785G>A	uc002sdc.2	+	c.2025G>A	c.(2023-2025)CTG>CTA	p.L675L	AFTPH_uc002scz.2_Silent_p.L675L|AFTPH_uc002sda.2_Silent_p.L675L|AFTPH_uc002sdb.2_Silent_p.L675L	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	675					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2														0.415301	222.156854	223.305492	76	107	KEEP	---	---	---	---	capture		Silent	SNP	64794785	64794785	365	2	G	A	A	A	574	45	AFTPH	2	2
SERTAD2	9792	broad.mit.edu	37	2	64863200	64863200	+	Nonsense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:64863200G>C	uc002sde.1	-	c.806C>G	c.(805-807)TCA>TGA	p.S269*		NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	269					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0														0.114286	19.822354	35.221974	12	93	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	64863200	64863200	14609	2	G	C	C	C	585	45	SERTAD2	5	3
ARHGAP25	9938	broad.mit.edu	37	2	69002401	69002401	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69002401C>A	uc010fdg.2	+	c.110C>A	c.(109-111)CCA>CAA	p.P37Q	ARHGAP25_uc010yqk.1_Missense_Mutation_p.P11Q|ARHGAP25_uc002seu.2_Missense_Mutation_p.P37Q|ARHGAP25_uc010yql.1_Missense_Mutation_p.P37Q|ARHGAP25_uc002sev.2_Missense_Mutation_p.P30Q|ARHGAP25_uc002sew.2_Missense_Mutation_p.P30Q|ARHGAP25_uc002sex.2_Missense_Mutation_p.P30Q|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	37					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.393401	446.315395	450.242375	155	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69002401	69002401	886	2	C	A	A	A	273	21	ARHGAP25	2	2
C2orf42	54980	broad.mit.edu	37	2	70408798	70408798	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:70408798A>G	uc002sgh.2	-	c.320T>C	c.(319-321)ATC>ACC	p.I107T		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	107											0														0.42029	95.76443	96.146502	29	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70408798	70408798	2254	2	A	G	G	G	156	12	C2orf42	4	4
ALMS1	7840	broad.mit.edu	37	2	73679045	73679045	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73679045G>T	uc002sje.1	+	c.5394G>T	c.(5392-5394)GGG>GGT	p.G1798G	ALMS1_uc002sjf.1_Silent_p.G1754G|ALMS1_uc002sjg.2_Silent_p.G1184G|ALMS1_uc002sjh.1_Silent_p.G1184G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1796	34 X 47 AA approximate tandem repeat.|27.				G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.433962	260.293116	261.091869	92	120	KEEP	---	---	---	---	capture		Silent	SNP	73679045	73679045	538	2	G	T	T	T	548	43	ALMS1	2	2
REG3A	5068	broad.mit.edu	37	2	79385532	79385532	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79385532C>T	uc002sod.1	-	c.253G>A	c.(253-255)GGA>AGA	p.G85R	REG3A_uc002soe.1_Missense_Mutation_p.G85R|REG3A_uc002sof.1_Missense_Mutation_p.G85R	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	85	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding				0														0.420561	136.102608	136.67958	45	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79385532	79385532	13681	2	C	T	T	T	286	22	REG3A	2	2
RG9MTD1	54931	broad.mit.edu	37	3	101283640	101283640	+	Silent	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:101283640C>G	uc003duz.2	+	c.15C>G	c.(13-15)CTC>CTG	p.L5L		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	5					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						Colon(61;905 1056 3196 19548 40505)								0.038288	-62.908211	39.398618	17	427	KEEP	---	---	---	---	capture		Silent	SNP	101283640	101283640	13744	3	C	G	G	G	366	29	RG9MTD1	3	3
BBX	56987	broad.mit.edu	37	3	107491895	107491895	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:107491895G>A	uc010hpr.2	+	c.1327G>A	c.(1327-1329)GCA>ACA	p.A443T	BBX_uc003dwk.3_Missense_Mutation_p.A443T|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.A464T|BBX_uc003dwm.3_Missense_Mutation_p.A443T|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(3;0.112)											0.314286	144.650781	150.027735	55	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107491895	107491895	1364	3	G	A	A	A	442	34	BBX	2	2
LSAMP	4045	broad.mit.edu	37	3	115805239	115805239	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:115805239C>A	uc011bis.1	-	c.320G>T	c.(319-321)GGT>GTT	p.G107V	LSAMP_uc003ebt.2_Missense_Mutation_p.G107V	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	107	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)										0.721311	147.520955	150.205722	44	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115805239	115805239	9424	3	C	A	A	A	234	18	LSAMP	2	2
C3orf30	152405	broad.mit.edu	37	3	118865123	118865123	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:118865123C>A	uc003ecb.1	+	c.87C>A	c.(85-87)GGC>GGA	p.G29G	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.G29G	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	29										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)										0.622222	87.703863	88.293509	28	17	KEEP	---	---	---	---	capture		Silent	SNP	118865123	118865123	2313	3	C	A	A	A	327	26	C3orf30	2	2
UPK1B	7348	broad.mit.edu	37	3	118905622	118905622	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:118905622C>A	uc003ecc.2	+	c.34C>A	c.(34-36)CAG>AAG	p.Q12K	UPK1B_uc011bix.1_Intron|UPK1B_uc003ecd.2_Missense_Mutation_p.Q12K	NM_006952	NP_008883	O75841	UPK1B_HUMAN	uroplakin 1B	12	Cytoplasmic (Potential).				epithelial cell differentiation	integral to membrane	structural molecule activity				0				GBM - Glioblastoma multiforme(114;0.222)										0.270833	102.956072	109.780299	39	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118905622	118905622	17568	3	C	A	A	A	273	21	UPK1B	2	2
ARHGAP31	57514	broad.mit.edu	37	3	119013842	119013842	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119013842G>A	uc003ecj.3	+	c.91G>A	c.(91-93)GGA>AGA	p.G31R		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	31	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						Pancreas(7;176 297 5394 51128 51241)								0.28	98.971553	104.410951	35	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119013842	119013842	892	3	G	A	A	A	559	43	ARHGAP31	2	2
ARHGAP31	57514	broad.mit.edu	37	3	119133386	119133386	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119133386C>T	uc003ecj.3	+	c.2610C>T	c.(2608-2610)ATC>ATT	p.I870I		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	870					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						Pancreas(7;176 297 5394 51128 51241)								0.254545	104.576987	113.596333	42	123	KEEP	---	---	---	---	capture		Silent	SNP	119133386	119133386	892	3	C	T	T	T	395	31	ARHGAP31	1	1
C3orf15	89876	broad.mit.edu	37	3	119466715	119466715	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119466715C>T	uc003ede.3	+	c.2109C>T	c.(2107-2109)ATC>ATT	p.I703I	C3orf15_uc010hqz.2_Silent_p.I641I|C3orf15_uc011bjd.1_Silent_p.I577I|C3orf15_uc011bje.1_Silent_p.I683I|C3orf15_uc003edg.3_Non-coding_Transcript|C3orf15_uc003edh.3_5'Flank	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	539						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)										0.103093	8.389858	23.599435	10	87	KEEP	---	---	---	---	capture		Silent	SNP	119466715	119466715	2301	3	C	T	T	T	382	30	C3orf15	2	2
CD86	942	broad.mit.edu	37	3	121838334	121838334	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121838334A>G	uc003eet.2	+	c.943A>G	c.(943-945)AAA>GAA	p.K315E	CD86_uc011bjo.1_Missense_Mutation_p.K233E|CD86_uc011bjp.1_Missense_Mutation_p.K203E|CD86_uc003eeu.2_Missense_Mutation_p.K309E	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	315	Cytoplasmic (Potential).				cell-cell signaling|interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	integral to membrane	coreceptor activity|protein binding|transcription activator activity			pancreas(1)	1				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GBM(67;1379 1389 36064 39806)								0.428571	119.365894	119.707729	33	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121838334	121838334	3171	3	A	G	G	G	169	13	CD86	4	4
PARP14	54625	broad.mit.edu	37	3	122419622	122419622	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122419622A>G	uc003efq.3	+	c.2221A>G	c.(2221-2223)AAA>GAA	p.K741E	PARP14_uc010hrk.2_Non-coding_Transcript|PARP14_uc003efr.2_Missense_Mutation_p.K458E|PARP14_uc003efs.1_Missense_Mutation_p.K458E	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.0531)										0.282609	42.061776	44.010639	13	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122419622	122419622	11875	3	A	G	G	G	169	13	PARP14	4	4
PARP14	54625	broad.mit.edu	37	3	122437240	122437240	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122437240A>T	uc003efq.3	+	c.4242A>T	c.(4240-4242)AAA>AAT	p.K1414N	PARP14_uc010hrk.2_Non-coding_Transcript|PARP14_uc003efr.2_Missense_Mutation_p.K1131N|PARP14_uc003efs.1_Missense_Mutation_p.K1131N	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.0531)										0.285714	118.084539	124.718376	46	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122437240	122437240	11875	3	A	T	T	T	11	1	PARP14	3	3
ADCY5	111	broad.mit.edu	37	3	123038571	123038571	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123038571G>A	uc003egh.1	-	c.2206C>T	c.(2206-2208)CAC>TAC	p.H736Y	ADCY5_uc003egg.1_Missense_Mutation_p.H369Y|ADCY5_uc003egi.1_Missense_Mutation_p.H295Y	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	736	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)										0.253165	39.383292	43.745132	20	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123038571	123038571	298	3	G	A	A	A	598	46	ADCY5	2	2
ATP2C1	27032	broad.mit.edu	37	3	130694302	130694302	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130694302A>C	uc011bli.1	+	c.1642A>C	c.(1642-1644)AAG>CAG	p.K548Q	ATP2C1_uc011blg.1_Missense_Mutation_p.K548Q|ATP2C1_uc011blh.1_Missense_Mutation_p.K509Q|ATP2C1_uc003enk.2_Missense_Mutation_p.K498Q|ATP2C1_uc003enl.2_Missense_Mutation_p.K514Q|ATP2C1_uc003enm.2_Missense_Mutation_p.K514Q|ATP2C1_uc003enn.2_Missense_Mutation_p.K498Q|ATP2C1_uc003eno.2_Missense_Mutation_p.K514Q|ATP2C1_uc003enp.2_Missense_Mutation_p.K514Q|ATP2C1_uc003enq.2_Missense_Mutation_p.K514Q|ATP2C1_uc003enr.2_Missense_Mutation_p.K514Q|ATP2C1_uc003ens.2_Missense_Mutation_p.K514Q|ATP2C1_uc003ent.2_Missense_Mutation_p.K514Q|ATP2C1_uc003enu.2_Missense_Mutation_p.K192Q	NM_001001487	NP_001001487	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1b	514	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	Esophageal Squamous(99;456 1443 27647 34099 42636)								0.644068	147.770165	148.850598	38	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130694302	130694302	1162	3	A	C	C	C	117	9	ATP2C1	4	4
NEK11	79858	broad.mit.edu	37	3	130852750	130852750	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130852750G>A	uc003eny.2	+	c.597G>A	c.(595-597)ATG>ATA	p.M199I	NEK11_uc003enx.2_Missense_Mutation_p.M199I|NEK11_uc003eoa.2_Missense_Mutation_p.M199I|NEK11_uc003enz.2_Missense_Mutation_p.M17I|NEK11_uc010htn.2_Non-coding_Transcript|NEK11_uc011blk.1_Missense_Mutation_p.M51I|NEK11_uc011bll.1_Missense_Mutation_p.M199I|NEK11_uc003enw.1_Missense_Mutation_p.M199I|NEK11_uc011blm.1_Missense_Mutation_p.M199I|NEK11_uc010hto.1_Missense_Mutation_p.M51I	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1	199	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade|protein phosphorylation	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|central_nervous_system(1)	5										271				0.322148	125.739022	129.929052	48	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130852750	130852750	10722	3	G	A	A	A	585	45	NEK11	2	2
BFSP2	8419	broad.mit.edu	37	3	133191318	133191318	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:133191318C>T	uc003epn.1	+	c.1153C>T	c.(1153-1155)CAA>TAA	p.Q385*		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	385	Rod.|Potential.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0														0.333333	36.271985	37.458859	16	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	133191318	133191318	1440	3	C	T	T	T	325	25	BFSP2	5	2
ESYT3	83850	broad.mit.edu	37	3	138191516	138191516	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138191516T>G	uc003esk.2	+	c.2052T>G	c.(2050-2052)AGT>AGG	p.S684R	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	684						integral to membrane|plasma membrane					0														0.248366	93.533887	102.406904	38	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138191516	138191516	5459	3	T	G	G	G	751	58	ESYT3	4	4
PIK3CB	5291	broad.mit.edu	37	3	138461618	138461618	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138461618G>T	uc011bmq.1	-	c.403C>A	c.(403-405)CAT>AAT	p.H135N		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	135					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			ovary(1)|skin(1)	2										330				0.580247	148.832488	149.286552	47	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138461618	138461618	12338	3	G	T	T	T	598	46	PIK3CB	2	2
SLC9A9	285195	broad.mit.edu	37	3	143271268	143271268	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:143271268C>A	uc003evn.2	-	c.1025G>T	c.(1024-1026)GGA>GTA	p.G342V		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	342	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)	2														0.294118	36.702215	38.638693	15	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143271268	143271268	15218	3	C	A	A	A	390	30	SLC9A9	2	2
PLOD2	5352	broad.mit.edu	37	3	145790448	145790448	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:145790448C>G	uc003evr.1	-	c.1748G>C	c.(1747-1749)TGT>TCT	p.C583S	PLOD2_uc003evq.1_Missense_Mutation_p.C243S|PLOD2_uc011bnm.1_Missense_Mutation_p.C528S|PLOD2_uc003evs.1_Missense_Mutation_p.C562S	NM_182943	NP_891988	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	562					oxidation-reduction process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding			ovary(1)	1					Vitamin C(DB00126)									0.220339	38.042101	42.290871	13	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145790448	145790448	12528	3	C	G	G	G	221	17	PLOD2	3	3
AGTR1	185	broad.mit.edu	37	3	148459408	148459408	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148459408G>T	uc003ewg.2	+	c.586G>T	c.(586-588)GGC>TGC	p.G196C	AGTR1_uc003ewh.2_Missense_Mutation_p.G196C|AGTR1_uc003ewi.2_Missense_Mutation_p.G196C|AGTR1_uc003ewj.2_Missense_Mutation_p.G196C|AGTR1_uc003ewk.2_Missense_Mutation_p.G196C	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	196	Helical; Name=5; (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|oxygen and reactive oxygen species metabolic process|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|regulation of blood vessel size by renin-angiotensin|regulation of cell growth|regulation of cell proliferation|regulation of natriuresis|regulation of vasoconstriction|regulation of vasodilation|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction	integral to plasma membrane	acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)									0.488889	201.24562	201.259905	66	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148459408	148459408	404	3	G	T	T	T	559	43	AGTR1	2	2
PDCD10	11235	broad.mit.edu	37	3	167413436	167413436	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167413436T>A	uc003fex.2	-	c.343A>T	c.(343-345)AGT>TGT	p.S115C	PDCD10_uc003fez.2_Missense_Mutation_p.S115C|PDCD10_uc003fey.2_Missense_Mutation_p.S115C	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN	programmed cell death 10	115					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)	1														0.432024	456.075642	457.409151	143	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167413436	167413436	12037	3	T	A	A	A	715	55	PDCD10	3	3
TNIK	23043	broad.mit.edu	37	3	170928949	170928949	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170928949C>A	uc003fhh.2	-	c.262G>T	c.(262-264)GCT>TCT	p.A88S	TNIK_uc003fhi.2_Missense_Mutation_p.A88S|TNIK_uc003fhj.2_Missense_Mutation_p.A88S|TNIK_uc003fhk.2_Missense_Mutation_p.A88S|TNIK_uc003fhl.2_Missense_Mutation_p.A88S|TNIK_uc003fhm.2_Missense_Mutation_p.A88S|TNIK_uc003fhn.2_Missense_Mutation_p.A88S|TNIK_uc003fho.2_Missense_Mutation_p.A88S	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	88	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)							743				0.06	-8.436987	11.818301	6	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170928949	170928949	16854	3	C	A	A	A	325	25	TNIK	2	2
SPATA16	83893	broad.mit.edu	37	3	172835341	172835341	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172835341C>G	uc003fin.3	-	c.181G>C	c.(181-183)GAA>CAA	p.E61Q		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	61					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)	2	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)											0.110315	124.443037	229.311224	77	621	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172835341	172835341	15509	3	C	G	G	G	377	29	SPATA16	3	3
SPATA16	83893	broad.mit.edu	37	3	172835417	172835417	+	Silent	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172835417C>G	uc003fin.3	-	c.105G>C	c.(103-105)GCG>GCC	p.A35A		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	35					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)	2	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)											0.18484	352.085088	422.290515	139	613	KEEP	---	---	---	---	capture		Silent	SNP	172835417	172835417	15509	3	C	G	G	G	340	27	SPATA16	3	3
NLGN1	22871	broad.mit.edu	37	3	173997326	173997326	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:173997326T>C	uc003fio.1	+	c.1535T>C	c.(1534-1536)GTA>GCA	p.V512A	NLGN1_uc010hww.1_Missense_Mutation_p.V552A|NLGN1_uc003fip.1_Missense_Mutation_p.V512A	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	529	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of excitatory postsynaptic membrane potential|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of synaptic transmission|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	carboxylesterase activity|cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)											0.385827	164.107104	165.569705	49	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173997326	173997326	10864	3	T	C	C	C	741	57	NLGN1	4	4
NAALADL2	254827	broad.mit.edu	37	3	175293949	175293949	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:175293949G>C	uc003fit.2	+	c.1774G>C	c.(1774-1776)GCT>CCT	p.A592P	NAALADL2_uc003fiu.1_Missense_Mutation_p.A585P|NAALADL2_uc010hwy.1_Missense_Mutation_p.A366P	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	592	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)										0.3125	362.327643	373.340883	110	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175293949	175293949	10525	3	G	C	C	C	598	46	NAALADL2	3	3
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	A	A	rs104886003		TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:178936091G>A	uc003fjk.2	+	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545			E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(713)|p.E545?(19)|p.E545Q(11)|p.E545D(1)|p.E545G(1)|p.E545A(1)		breast(1506)|large_intestine(749)|endometrium(244)|urinary_tract(195)|ovary(136)|skin(112)|stomach(89)|thyroid(77)|central_nervous_system(69)|lung(61)|upper_aerodigestive_tract(48)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|kidney(2)|prostate(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3437	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			Colon(199;1504 1750 3362 26421 31210 32040)	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	TCGA GBM(8;5.49e-07)			0.355932	58.454695	59.535201	21	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178936091	178936091	12337	3	G	A	A	A	585	45	PIK3CA	2	2
ATP11B	23200	broad.mit.edu	37	3	182575779	182575779	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:182575779A>G	uc003flb.2	+	c.965A>G	c.(964-966)TAT>TGT	p.Y322C		NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	322	Extracellular (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)											0.182857	83.303195	99.819695	32	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182575779	182575779	1139	3	A	G	G	G	208	16	ATP11B	4	4
YEATS2	55689	broad.mit.edu	37	3	183474351	183474351	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183474351C>T	uc003fly.2	+	c.1426C>T	c.(1426-1428)CCT>TCT	p.P476S		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	476					histone H3 acetylation|negative regulation of gene-specific transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	specific transcriptional repressor activity|TBP-class protein binding			ovary(2)|large_intestine(1)	3	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.522565	653.21755	653.399832	220	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183474351	183474351	18055	3	C	T	T	T	338	26	YEATS2	2	2
VPS8	23355	broad.mit.edu	37	3	184714270	184714270	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184714270G>A	uc003fpb.1	+	c.3811G>A	c.(3811-3813)GAT>AAT	p.D1271N	VPS8_uc010hyd.1_Missense_Mutation_p.D1181N|VPS8_uc010hye.1_Missense_Mutation_p.D700N	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	1273	RING-type; atypical.						zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)											0.051852	-17.703962	11.047788	7	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184714270	184714270	17785	3	G	A	A	A	585	45	VPS8	2	2
LPP	4026	broad.mit.edu	37	3	188327238	188327238	+	Nonsense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:188327238C>G	uc003frs.1	+	c.719C>G	c.(718-720)TCA>TGA	p.S240*	LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Nonsense_Mutation_p.S240*|LPP_uc003frt.2_Nonsense_Mutation_p.S240*|LPP_uc011bsj.1_Nonsense_Mutation_p.S77*	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	240	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|ovary(1)	162	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)						184				0.057143	-7.49507	21.303779	8	132	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	188327238	188327238	9296	3	C	G	G	G	377	29	LPP	5	3
TP63	8626	broad.mit.edu	37	3	189349318	189349318	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:189349318C>T	uc003fry.2	+	c.14C>T	c.(13-15)ACT>ATT	p.T5I	TP63_uc003frx.2_Missense_Mutation_p.T5I|TP63_uc003frz.2_Missense_Mutation_p.T5I|TP63_uc010hzc.1_Missense_Mutation_p.T5I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	5	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|promoter binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			lung(4)|ovary(2)|skin(2)	8	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)						423				0.101942	31.842793	96.939587	42	370	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189349318	189349318	16936	3	C	T	T	T	260	20	TP63	2	2
PYDC2	152138	broad.mit.edu	37	3	191179171	191179171	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:191179171C>A	uc011bso.1	+	c.220C>A	c.(220-222)CAG>AAG	p.Q74K		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	74	DAPIN.					cytoplasm|nucleus					0														0.547486	304.388495	304.745463	98	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	191179171	191179171	13317	3	C	A	A	A	273	21	PYDC2	2	2
ZDHHC19	131540	broad.mit.edu	37	3	195935386	195935386	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195935386G>A	uc003fwc.2	-	c.454C>T	c.(454-456)CGC>TGC	p.R152C	ZDHHC19_uc010hzz.2_Non-coding_Transcript|ZDHHC19_uc010iaa.2_Non-coding_Transcript|ZDHHC19_uc010iab.2_Non-coding_Transcript	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	152	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)										0.343949	164.339199	167.698877	54	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	195935386	195935386	18197	3	G	A	A	A	507	39	ZDHHC19	1	1
LRCH3	84859	broad.mit.edu	37	3	197518272	197518272	+	Silent	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:197518272C>G	uc011bul.1	+	c.123C>G	c.(121-123)GGC>GGG	p.G41G	LRCH3_uc003fyj.1_Silent_p.G41G|LRCH3_uc011bum.1_Silent_p.G41G|LRCH3_uc011bun.1_Silent_p.G41G	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	41						extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)										0.2	10.659718	12.755641	5	20	KEEP	---	---	---	---	capture		Silent	SNP	197518272	197518272	9307	3	C	G	G	G	327	26	LRCH3	3	3
CLASP2	23122	broad.mit.edu	37	3	33614712	33614712	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33614712C>A	uc003cfu.2	-	c.2589G>T	c.(2587-2589)CAG>CAT	p.Q863H	CLASP2_uc003cfs.2_Missense_Mutation_p.Q71H|CLASP2_uc003cft.2_Non-coding_Transcript|CLASP2_uc010hgb.2_Non-coding_Transcript|CLASP2_uc011axt.1_Missense_Mutation_p.Q464H	NM_015097	NP_055912	O75122	CLAP2_HUMAN	CLIP-associating protein 2	651					axon guidance|cell division|establishment or maintenance of cell polarity|microtubule anchoring|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	cell cortex|condensed chromosome kinetochore|cytoplasmic microtubule|cytosol|kinetochore microtubule|microtubule organizing center|trans-Golgi network	galactoside 2-alpha-L-fucosyltransferase activity|microtubule plus-end binding			ovary(3)|central_nervous_system(1)	4														0.688	271.183883	275.112508	86	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33614712	33614712	3591	3	C	A	A	A	415	32	CLASP2	2	2
EPM2AIP1	9852	broad.mit.edu	37	3	37033806	37033806	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:37033806C>G	uc003cgk.2	-	c.763G>C	c.(763-765)GAG>CAG	p.E255Q	MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	EPM2A interacting protein 1	255						endoplasmic reticulum					0														0.444444	218.5055	218.864224	60	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37033806	37033806	5377	3	C	G	G	G	377	29	EPM2AIP1	3	3
SCN5A	6331	broad.mit.edu	37	3	38622670	38622670	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38622670C>A	uc003cio.2	-	c.2980G>T	c.(2980-2982)GCC>TCC	p.A994S	SCN5A_uc003cin.2_Missense_Mutation_p.A994S|SCN5A_uc003cil.3_Missense_Mutation_p.A994S|SCN5A_uc010hhi.2_Missense_Mutation_p.A994S|SCN5A_uc010hhk.2_Missense_Mutation_p.A994S|SCN5A_uc011ayr.1_Missense_Mutation_p.A994S|SCN5A_uc010hhj.1_Missense_Mutation_p.A605S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	994					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.833333	16.080618	16.613364	5	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38622670	38622670	14404	3	C	A	A	A	364	28	SCN5A	2	2
KBTBD5	131377	broad.mit.edu	37	3	42727898	42727898	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42727898G>T	uc003clv.1	+	c.788G>T	c.(787-789)GGC>GTC	p.G263V		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	263										ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)										0.8	91.493113	94.829823	32	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42727898	42727898	8301	3	G	T	T	T	546	42	KBTBD5	2	2
CELSR3	1951	broad.mit.edu	37	3	48665887	48665887	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48665887C>T	uc003cuf.1	-	c.11995G>A	c.(11995-11997)GAG>AAG	p.E3999K	SLC26A6_uc003cug.2_Missense_Mutation_p.E573K|SLC26A6_uc003cuh.2_Missense_Mutation_p.E594K|SLC26A6_uc010hke.2_Missense_Mutation_p.E445K|SLC26A6_uc003cuk.2_Missense_Mutation_p.E487K|SLC26A6_uc003cui.2_Missense_Mutation_p.E594K|SLC26A6_uc003cuj.2_Missense_Mutation_p.E594K|SLC26A6_uc011bbp.1_Missense_Mutation_p.E558K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)										0.647059	147.432918	148.741119	44	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48665887	48665887	3356	3	C	T	T	T	416	32	CELSR3	2	2
SEMA3G	56920	broad.mit.edu	37	3	52472194	52472194	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52472194G>A	uc003dea.1	-	c.1531C>T	c.(1531-1533)CGG>TGG	p.R511W		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	511	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)										0.875	22.440297	23.528096	7	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52472194	52472194	14516	3	G	A	A	A	480	37	SEMA3G	1	1
C3orf63	23272	broad.mit.edu	37	3	56675595	56675595	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:56675595T>A	uc003did.3	-	c.2401A>T	c.(2401-2403)ACT>TCT	p.T801S	C3orf63_uc003dic.3_Missense_Mutation_p.T405S|C3orf63_uc003die.3_Missense_Mutation_p.T801S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	801										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)										0.790698	116.372958	119.736784	34	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56675595	56675595	2332	3	T	A	A	A	767	59	C3orf63	3	3
ADAMTS9	56999	broad.mit.edu	37	3	64619165	64619165	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:64619165C>G	uc003dmg.2	-	c.2158G>C	c.(2158-2160)GTC>CTC	p.V720L	ADAMTS9_uc011bfo.1_Missense_Mutation_p.V692L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.V549L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.V720L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	720	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)										0.681818	169.600893	171.54212	45	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64619165	64619165	274	3	C	G	G	G	221	17	ADAMTS9	3	3
CRYBG3	131544	broad.mit.edu	37	3	97596395	97596395	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97596395G>A	uc003drx.2	+	c.513G>A	c.(511-513)CAG>CAA	p.Q171Q		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0														0.077778	-2.558098	13.893038	7	83	KEEP	---	---	---	---	capture		Silent	SNP	97596395	97596395	4052	3	G	A	A	A	464	36	CRYBG3	2	2
OR5H6	79295	broad.mit.edu	37	3	97983473	97983473	+	Silent	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97983473A>T	uc003dsi.1	+	c.345A>T	c.(343-345)GTA>GTT	p.V115V		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	115	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2														0.3	73.00259	76.211845	27	63	KEEP	---	---	---	---	capture		Silent	SNP	97983473	97983473	11573	3	A	T	T	T	171	14	OR5H6	3	3
OR5K4	403278	broad.mit.edu	37	3	98072866	98072866	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98072866A>T	uc011bgv.1	+	c.169A>T	c.(169-171)ACA>TCA	p.T57S		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.263566	373.488197	399.557071	136	380	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98072866	98072866	11579	3	A	T	T	T	78	6	OR5K4	3	3
OR5K3	403277	broad.mit.edu	37	3	98109951	98109951	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98109951G>T	uc011bgw.1	+	c.442G>T	c.(442-444)GCC>TCC	p.A148S		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.3875	176.019591	177.790781	62	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98109951	98109951	11578	3	G	T	T	T	442	34	OR5K3	2	2
ARHGEF38	54848	broad.mit.edu	37	4	106473981	106473981	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106473981C>T	uc003hxu.2	+	c.59C>T	c.(58-60)GCC>GTC	p.A20V		NM_017700	NP_060170	Q9NXL2	ARH38_HUMAN	hypothetical protein LOC54848	20					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|breast(1)	3														0.45614	77.142035	77.2377	26	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106473981	106473981	922	4	C	T	T	T	338	26	ARHGEF38	2	2
LRIT3	345193	broad.mit.edu	37	4	110791278	110791278	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110791278G>A	uc003hzx.3	+	c.1238G>A	c.(1237-1239)GGA>GAA	p.G413E	LRIT3_uc003hzw.3_Missense_Mutation_p.G275E	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	413						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)										0.438356	93.186072	93.428385	32	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110791278	110791278	9322	4	G	A	A	A	533	41	LRIT3	2	2
NDST4	64579	broad.mit.edu	37	4	115773903	115773903	+	Silent	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115773903T>A	uc003ibu.2	-	c.1794A>T	c.(1792-1794)CTA>CTT	p.L598L	NDST4_uc010imw.2_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	598	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 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)										0.285714	28.435335	29.877574	10	25	KEEP	---	---	---	---	capture		Silent	SNP	115773903	115773903	10657	4	T	A	A	A	678	53	NDST4	3	3
EXOSC9	5393	broad.mit.edu	37	4	122722599	122722599	+	Nonsense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122722599C>G	uc003idz.2	+	c.20C>G	c.(19-21)TCA>TGA	p.S7*	EXOSC9_uc003iea.2_Nonsense_Mutation_p.S7*|EXOSC9_uc003ieb.2_5'Flank	NM_001034194	NP_001029366	Q06265	EXOS9_HUMAN	exosome component 9 isoform 1	7	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0														0.054687	-7.985545	18.752069	7	121	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	122722599	122722599	5515	4	C	G	G	G	377	29	EXOSC9	5	3
KIAA1109	84162	broad.mit.edu	37	4	123175388	123175388	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123175388A>G	uc003ieh.2	+	c.5961A>G	c.(5959-5961)CTA>CTG	p.L1987L	KIAA1109_uc003iel.1_5'Flank|KIAA1109_uc003iek.2_Silent_p.L606L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1987					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.303797	81.124199	83.807952	24	55	KEEP	---	---	---	---	capture		Silent	SNP	123175388	123175388	8516	4	A	G	G	G	171	14	KIAA1109	4	4
BOD1L	259282	broad.mit.edu	37	4	13616150	13616150	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13616150C>G	uc003gmz.1	-	c.844G>C	c.(844-846)GAC>CAC	p.D282H	BOD1L_uc010idr.1_5'UTR|BOD1L_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	282							DNA binding			ovary(5)|breast(1)	6														0.814815	85.867975	88.377694	22	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13616150	13616150	1508	4	C	G	G	G	403	31	BOD1L	3	3
PET112L	5188	broad.mit.edu	37	4	152640682	152640682	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:152640682G>C	uc003iml.2	-	c.336C>G	c.(334-336)AAC>AAG	p.N112K	PET112L_uc003imm.3_Missense_Mutation_p.N112K	NM_004564	NP_004555	O75879	GATB_HUMAN	PET112-like precursor	112						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding				0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.357143	48.508036	49.265178	15	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152640682	152640682	12155	4	G	C	C	C	620	48	PET112L	3	3
TDO2	6999	broad.mit.edu	37	4	156831336	156831336	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156831336G>T	uc003ipf.1	+	c.591G>T	c.(589-591)CAG>CAT	p.Q197H		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	197					oxidation-reduction process|tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	Colon(57;928 1036 2595 6946 26094)								0.366667	98.749065	100.156851	33	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156831336	156831336	16253	4	G	T	T	T	451	35	TDO2	2	2
TDO2	6999	broad.mit.edu	37	4	156841118	156841118	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156841118C>A	uc003ipf.1	+	c.1197C>A	c.(1195-1197)TAC>TAA	p.Y399*		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	399					oxidation-reduction process|tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	Colon(57;928 1036 2595 6946 26094)								0.555556	95.052655	95.197306	30	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	156841118	156841118	16253	4	C	A	A	A	259	20	TDO2	5	2
FAM198B	51313	broad.mit.edu	37	4	159076790	159076790	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159076790C>T	uc003ipq.3	-	c.1122G>A	c.(1120-1122)AAG>AAA	p.K374K	FAM198B_uc003ipp.3_Silent_p.K366K|FAM198B_uc003ipr.3_Silent_p.K366K	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 1	366	Extracellular (Potential).					Golgi membrane|integral to membrane					0														0.409091	80.511266	80.988183	27	39	KEEP	---	---	---	---	capture		Silent	SNP	159076790	159076790	5743	4	C	T	T	T	415	32	FAM198B	2	2
FGFBP1	9982	broad.mit.edu	37	4	15937647	15937648	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:15937647_15937648CA>AT	uc003gom.2	-	c.608_609TG>AT	c.(607-609)ATG>AAT	p.M203N		NM_005130	NP_005121	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	203	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding				0														0.754098	295.029372	302.205637	92	30	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	15937647	15937648	6097	4	CA	AT	AT	AT	273	21	FGFBP1	2	2
ANP32C	23520	broad.mit.edu	37	4	165118554	165118554	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:165118554G>T	uc011cjk.1	-	c.310C>A	c.(310-312)CCA>ACA	p.P104T	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	104	LRR 3.										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)										0.366516	227.869167	231.349629	81	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165118554	165118554	715	4	G	T	T	T	546	42	ANP32C	2	2
CBR4	84869	broad.mit.edu	37	4	169923276	169923276	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169923276C>A	uc003iry.2	-	c.481G>T	c.(481-483)GCT>TCT	p.A161S	CBR4_uc011cjy.1_Non-coding_Transcript|CBR4_uc003irz.1_Missense_Mutation_p.A161S	NM_032783	NP_116172	Q8N4T8	CBR4_HUMAN	carbonic reductase 4	161					fatty acid biosynthetic process|oxidation-reduction process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding				0		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)										0.363636	46.586538	47.307031	16	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169923276	169923276	2829	4	C	A	A	A	325	25	CBR4	2	2
C4orf27	54969	broad.mit.edu	37	4	170652908	170652908	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170652908C>G	uc003isl.3	-	c.856G>C	c.(856-858)GAT>CAT	p.D286H		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	hypothetical protein LOC54969	286						nucleus				ovary(1)|pancreas(1)	2		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)										0.178295	62.942444	75.511037	23	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170652908	170652908	2353	4	C	G	G	G	377	29	C4orf27	3	3
C4orf27	54969	broad.mit.edu	37	4	170652995	170652995	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170652995C>G	uc003isl.3	-	c.769G>C	c.(769-771)GAG>CAG	p.E257Q		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	hypothetical protein LOC54969	257						nucleus				ovary(1)|pancreas(1)	2		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)										0.28125	57.722252	60.474582	18	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170652995	170652995	2353	4	C	G	G	G	377	29	C4orf27	3	3
MORF4	10934	broad.mit.edu	37	4	174537112	174537112	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:174537112G>A	uc011cke.1	-	c.683C>T	c.(682-684)CCT>CTT	p.P228L		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)										0.482759	90.994993	91.010103	28	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174537112	174537112	10096	4	G	A	A	A	455	35	MORF4	2	2
ODZ3	55714	broad.mit.edu	37	4	183635384	183635384	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183635384G>T	uc003ivd.1	+	c.2366G>T	c.(2365-2367)GGA>GTA	p.G789V	ODZ3_uc003ive.1_Missense_Mutation_p.G195V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	789	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.4	20.692007	20.867966	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183635384	183635384	11241	4	G	T	T	T	533	41	ODZ3	2	2
FAM149A	25854	broad.mit.edu	37	4	187077213	187077213	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187077213G>T	uc003iyt.3	+	c.443G>T	c.(442-444)GGA>GTA	p.G148V	FAM149A_uc011cla.1_Missense_Mutation_p.G148V|FAM149A_uc010isj.2_Missense_Mutation_p.G148V|FAM149A_uc010isk.2_Non-coding_Transcript|FAM149A_uc003iyu.3_Missense_Mutation_p.G148V|FAM149A_uc010isl.2_Missense_Mutation_p.G148V|FAM149A_uc011clb.1_Missense_Mutation_p.G148V	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	439										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)										0.379845	133.239482	134.874501	49	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187077213	187077213	5652	4	G	T	T	T	533	41	FAM149A	2	2
MFSD10	10227	broad.mit.edu	37	4	2935498	2935498	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2935498C>G	uc003gfw.2	-	c.153G>C	c.(151-153)GAG>GAC	p.E51D	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Missense_Mutation_p.E51D|MFSD10_uc003gfy.2_Non-coding_Transcript|MFSD10_uc003gga.2_Missense_Mutation_p.E51D|MFSD10_uc003ggb.1_Missense_Mutation_p.E51D|MFSD10_uc003ggc.2_Missense_Mutation_p.E51D|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	51					apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)										0.6	20.551748	20.639109	6	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2935498	2935498	9918	4	C	G	G	G	415	32	MFSD10	3	3
FAM114A1	92689	broad.mit.edu	37	4	38907405	38907405	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38907405G>T	uc003gtn.2	+	c.580G>T	c.(580-582)GCA>TCA	p.A194S	FAM114A1_uc011byh.1_5'UTR	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	194						cytoplasm				ovary(1)	1														0.73913	57.485131	58.675244	17	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38907405	38907405	5600	4	G	T	T	T	598	46	FAM114A1	2	2
CORIN	10699	broad.mit.edu	37	4	47765396	47765396	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47765396C>A	uc003gxm.2	-	c.617G>T	c.(616-618)AGT>ATT	p.S206I	CORIN_uc011bzf.1_Missense_Mutation_p.S67I|CORIN_uc011bzg.1_Missense_Mutation_p.S139I|CORIN_uc011bzh.1_Missense_Mutation_p.S206I|CORIN_uc011bzi.1_Missense_Mutation_p.S206I|CORIN_uc003gxn.3_Missense_Mutation_p.S206I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	206	Extracellular (Potential).|FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)	1														0.8	26.704317	27.540573	8	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47765396	47765396	3890	4	C	A	A	A	312	24	CORIN	2	2
CWH43	80157	broad.mit.edu	37	4	48996751	48996751	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48996751C>A	uc003gyv.2	+	c.627C>A	c.(625-627)ACC>ACA	p.T209T	CWH43_uc011bzl.1_Silent_p.T182T	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	209	Helical; (Potential).				GPI anchor biosynthetic process	integral to membrane				ovary(1)	1														0.763889	173.149411	177.729085	55	17	KEEP	---	---	---	---	capture		Silent	SNP	48996751	48996751	4233	4	C	A	A	A	275	22	CWH43	2	2
PDGFRA	5156	broad.mit.edu	37	4	55130019	55130019	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55130019G>T	uc003han.3	+	c.553G>T	c.(553-555)GGG>TGG	p.G185W	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.G185W|PDGFRA_uc010igq.1_Missense_Mutation_p.G79W|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	185	Extracellular (Potential).|Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.520408	157.52154	157.556663	51	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55130019	55130019	12082	4	G	T	T	T	455	35	PDGFRA	2	2
ZNF595	152687	broad.mit.edu	37	4	59969	59969	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:59969C>A	uc003fzv.1	+	c.149C>A	c.(148-150)CCA>CAA	p.P50Q	ZNF595_uc003fzu.1_Non-coding_Transcript|ZNF718_uc003fzt.3_Missense_Mutation_p.P50Q|ZNF595_uc010iay.1_Non-coding_Transcript|ZNF595_uc011bus.1_Intron|ZNF595_uc011but.1_Intron	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	50					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)										0.100917	6.673113	23.980897	11	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59969	59969	18620	4	C	A	A	A	273	21	ZNF595	2	2
LPHN3	23284	broad.mit.edu	37	4	62758560	62758560	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62758560C>G	uc010ihh.2	+	c.1463C>G	c.(1462-1464)TCG>TGG	p.S488W	LPHN3_uc003hcq.3_Missense_Mutation_p.S488W|LPHN3_uc003hcs.1_Missense_Mutation_p.S317W	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	488	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.419355	45.871791	46.0473	13	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62758560	62758560	9290	4	C	G	G	G	403	31	LPHN3	3	3
EPHA5	2044	broad.mit.edu	37	4	66356361	66356361	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66356361G>T	uc011cah.1	-	c.1136C>A	c.(1135-1137)CCG>CAG	p.P379Q	EPHA5_uc003hcx.2_Missense_Mutation_p.P310Q|EPHA5_uc003hcy.2_Missense_Mutation_p.P379Q|EPHA5_uc003hcz.2_Missense_Mutation_p.P379Q|EPHA5_uc011cai.1_Missense_Mutation_p.P379Q|EPHA5_uc003hda.2_Missense_Mutation_p.P379Q	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	379	Fibronectin type-III 1.|Extracellular (Potential).				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.179487	15.103049	18.87051	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66356361	66356361	5363	4	G	T	T	T	507	39	EPHA5	1	1
UBA6	55236	broad.mit.edu	37	4	68500215	68500215	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68500215T>C	uc003hdg.3	-	c.1864A>G	c.(1864-1866)ATA>GTA	p.I622V	UBA6_uc003hdh.1_Missense_Mutation_p.I148V	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	622					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0														0.241379	21.511601	23.280067	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68500215	68500215	17389	4	T	C	C	C	676	52	UBA6	4	4
TMPRSS11A	339967	broad.mit.edu	37	4	68797731	68797731	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68797731C>G	uc003hdr.1	-	c.309G>C	c.(307-309)AAG>AAC	p.K103N	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.K100N	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	103	SEA.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity				0						NSCLC(26;2 894 10941 14480 22546)								0.3125	67.176428	69.179436	20	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68797731	68797731	16779	4	C	G	G	G	415	32	TMPRSS11A	3	3
C4orf35	85438	broad.mit.edu	37	4	71201045	71201045	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71201045A>G	uc003hff.2	+	c.289A>G	c.(289-291)ACC>GCC	p.T97A		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	97						flagellum	calcium ion binding				0		all_hematologic(202;0.196)												0.463768	117.600641	117.678753	32	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71201045	71201045	2360	4	A	G	G	G	182	14	C4orf35	4	4
GC	2638	broad.mit.edu	37	4	72623761	72623761	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:72623761C>A	uc010iif.2	-	c.886G>T	c.(886-888)GAG>TAG	p.E296*	GC_uc003hgd.2_Nonsense_Mutation_p.E155*|GC_uc010iie.2_Nonsense_Mutation_p.E277*|GC_uc003hge.2_Nonsense_Mutation_p.E277*	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	277	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)	2		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)									0.344828	50.374311	51.611355	20	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72623761	72623761	6548	4	C	A	A	A	416	32	GC	5	2
ANKRD17	26057	broad.mit.edu	37	4	74043232	74043232	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:74043232C>A	uc003hgp.2	-	c.412G>T	c.(412-414)GAT>TAT	p.D138Y	ANKRD17_uc003hgo.2_Missense_Mutation_p.D25Y|ANKRD17_uc003hgq.2_Missense_Mutation_p.D138Y|ANKRD17_uc003hgr.2_Missense_Mutation_p.D138Y	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	138					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(2)|lung(1)	8	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)											0.333333	48.632256	49.960564	18	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74043232	74043232	649	4	C	A	A	A	390	30	ANKRD17	2	2
FRAS1	80144	broad.mit.edu	37	4	79373436	79373436	+	Missense_Mutation	SNP	G	T	T	rs76623027	byFrequency;by1000genomes	TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79373436G>T	uc003hlb.2	+	c.6691G>T	c.(6691-6693)GGG>TGG	p.G2231W		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2230	CSPG 10.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.519231	82.11329	82.129493	27	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79373436	79373436	6288	4	G	T	T	T	611	47	FRAS1	2	2
FRAS1	80144	broad.mit.edu	37	4	79403083	79403083	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79403083C>T	uc003hlb.2	+	c.8569C>T	c.(8569-8571)CGG>TGG	p.R2857W		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2852	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.408696	139.020111	139.851722	47	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79403083	79403083	6288	4	C	T	T	T	399	31	FRAS1	1	1
SCD5	79966	broad.mit.edu	37	4	83602054	83602054	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:83602054G>A	uc003hna.2	-	c.375C>T	c.(373-375)TTC>TTT	p.F125F	SCD5_uc003hnb.3_Silent_p.F125F	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5 isoform a	125					fatty acid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			ovary(1)	1		Colorectal(4;0.0323)|Hepatocellular(203;0.115)								68				0.292308	100.691573	105.717349	38	92	KEEP	---	---	---	---	capture		Silent	SNP	83602054	83602054	14368	4	G	A	A	A	477	37	SCD5	1	1
ACOX3	8310	broad.mit.edu	37	4	8390969	8390969	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:8390969C>A	uc010idk.2	-	c.1468G>T	c.(1468-1470)GAC>TAC	p.D490Y	ACOX3_uc003glc.3_Missense_Mutation_p.D490Y|ACOX3_uc003gld.3_Missense_Mutation_p.D490Y|ACOX3_uc003gle.1_Missense_Mutation_p.D395Y	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	490					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1														0.75	27.578964	28.259864	9	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8390969	8390969	161	4	C	A	A	A	390	30	ACOX3	2	2
WDFY3	23001	broad.mit.edu	37	4	85701338	85701338	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85701338C>A	uc003hpd.2	-	c.4288G>T	c.(4288-4290)GCA>TCA	p.A1430S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1430						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)										0.309353	109.963923	114.471037	43	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85701338	85701338	17842	4	C	A	A	A	364	28	WDFY3	2	2
HERC6	55008	broad.mit.edu	37	4	89311943	89311943	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89311943C>A	uc011cdi.1	+	c.576C>A	c.(574-576)CAC>CAA	p.H192Q	HERC6_uc003hrp.1_Non-coding_Transcript|HERC6_uc011cdj.1_Missense_Mutation_p.H192Q|HERC6_uc011cdk.1_Non-coding_Transcript|HERC6_uc011cdl.1_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	192	RCC1 3.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(1)|kidney(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)										0.083333	1.060535	9.531185	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89311943	89311943	7345	4	C	A	A	A	220	17	HERC6	2	2
HERC6	55008	broad.mit.edu	37	4	89338598	89338598	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89338598A>C	uc011cdi.1	+	c.1580A>C	c.(1579-1581)CAA>CCA	p.Q527P	HERC6_uc011cdj.1_Missense_Mutation_p.Q527P|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	527					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(1)|kidney(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)										0.333333	19.544761	19.987191	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89338598	89338598	7345	4	A	C	C	C	65	5	HERC6	4	4
MMRN1	22915	broad.mit.edu	37	4	90874329	90874329	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90874329C>A	uc003hst.2	+	c.3447C>A	c.(3445-3447)TAC>TAA	p.Y1149*	MMRN1_uc010iku.2_Nonsense_Mutation_p.Y452*|MMRN1_uc011cds.1_Nonsense_Mutation_p.Y891*	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	1149	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)										0.21875	35.413843	40.079406	14	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	90874329	90874329	10061	4	C	A	A	A	220	17	MMRN1	5	2
GRID2	2895	broad.mit.edu	37	4	94137997	94137997	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94137997C>T	uc011cdt.1	+	c.898C>T	c.(898-900)CGT>TGT	p.R300C	GRID2_uc010ikx.2_Missense_Mutation_p.R300C|GRID2_uc011cdu.1_Missense_Mutation_p.R205C|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	300	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.236559	56.602706	62.502337	22	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94137997	94137997	7050	4	C	T	T	T	299	23	GRID2	1	1
GIN1	54826	broad.mit.edu	37	5	102432295	102432295	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:102432295G>A	uc003koa.1	-	c.1244C>T	c.(1243-1245)CCT>CTT	p.P415L	GIN1_uc003kob.1_Missense_Mutation_p.P268L|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	415					DNA integration		DNA binding			ovary(1)	1		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)										0.679558	435.249373	440.420389	123	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102432295	102432295	6654	5	G	A	A	A	455	35	GIN1	2	2
SLC25A46	91137	broad.mit.edu	37	5	110083920	110083920	+	Silent	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:110083920A>C	uc003koz.2	+	c.519A>C	c.(517-519)ACA>ACC	p.T173T	SLC25A46_uc011cvi.1_Silent_p.T82T	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	173	Helical; Name=2; (Potential).|Solcar 1.				transport	integral to membrane|mitochondrial inner membrane					0		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)										0.673913	120.943493	122.178791	31	15	KEEP	---	---	---	---	capture		Silent	SNP	110083920	110083920	15008	5	A	C	C	C	67	6	SLC25A46	4	4
APC	324	broad.mit.edu	37	5	112175225	112175225	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112175225G>C	uc010jby.2	+	c.3934G>C	c.(3934-3936)GGA>CGA	p.G1312R	APC_uc011cvt.1_Missense_Mutation_p.G1294R|APC_uc003kpz.3_Missense_Mutation_p.G1312R|APC_uc003kpy.3_Missense_Mutation_p.G1312R|APC_uc010jbz.2_Missense_Mutation_p.G1029R|APC_uc010jca.2_Missense_Mutation_p.G612R	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1312	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.		G -> E (in gastric cancer).		canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.G1312*(24)|p.Q1294*(1)|p.K1192fs*3(1)|p.?(1)|p.G1312fs*1(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.791667	69.338791	71.229239	19	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112175225	112175225	773	5	G	C	C	C	611	47	APC	3	3
MEGF10	84466	broad.mit.edu	37	5	126783278	126783278	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126783278G>A	uc003kuh.3	+	c.2758G>A	c.(2758-2760)GCT>ACT	p.A920T	MEGF10_uc003kui.3_Missense_Mutation_p.A920T	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	920	Cytoplasmic (Potential).				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)										0.431373	126.103916	126.517054	44	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126783278	126783278	9849	5	G	A	A	A	494	38	MEGF10	1	1
FBN2	2201	broad.mit.edu	37	5	127626463	127626463	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127626463A>T	uc003kuu.2	-	c.6406T>A	c.(6406-6408)TGG>AGG	p.W2136R		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2136	TB 8.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.371134	107.9756	109.390673	36	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127626463	127626463	5939	5	A	T	T	T	91	7	FBN2	3	3
TIFAB	497189	broad.mit.edu	37	5	134785271	134785271	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134785271G>A	uc003law.3	-	c.359C>T	c.(358-360)ACA>ATA	p.T120I	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	120											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.349398	152.787601	156.11531	58	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134785271	134785271	16423	5	G	A	A	A	624	48	TIFAB	2	2
DNAH5	1767	broad.mit.edu	37	5	13751251	13751251	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13751251A>C	uc003jfd.2	-	c.11147T>G	c.(11146-11148)TTC>TGC	p.F3716C	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3716	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.39604	144.783674	145.737619	40	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13751251	13751251	4787	5	A	C	C	C	117	9	DNAH5	4	4
KIF20A	10112	broad.mit.edu	37	5	137519015	137519015	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137519015G>C	uc003lcj.2	+	c.990G>C	c.(988-990)CGG>CGC	p.R330R	KIF20A_uc011cyo.1_Silent_p.R312R	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	330	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.303797	78.075	80.785923	24	55	KEEP	---	---	---	---	capture		Silent	SNP	137519015	137519015	8597	5	G	C	C	C	535	42	KIF20A	3	3
DNAH5	1767	broad.mit.edu	37	5	13823414	13823414	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13823414G>A	uc003jfd.2	-	c.6645C>T	c.(6643-6645)GAC>GAT	p.D2215D		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2215					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.442953	194.026473	194.449476	66	83	KEEP	---	---	---	---	capture		Silent	SNP	13823414	13823414	4787	5	G	A	A	A	620	48	DNAH5	2	2
PCDHA3	56145	broad.mit.edu	37	5	140182821	140182821	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140182821C>G	uc003lhf.2	+	c.2039C>G	c.(2038-2040)TCC>TGC	p.S680C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S680C	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	680	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(5)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.428571	91.618393	91.898014	27	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140182821	140182821	11945	5	C	G	G	G	390	30	PCDHA3	3	3
PCDHA9	9752	broad.mit.edu	37	5	140229828	140229828	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140229828G>T	uc003lhu.2	+	c.1748G>T	c.(1747-1749)CGG>CTG	p.R583L	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_Missense_Mutation_p.R583L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	583	Extracellular (Potential).				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)								0.344444	86.711351	88.628189	31	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140229828	140229828	11951	5	G	T	T	T	507	39	PCDHA9	1	1
PCDHB6	56130	broad.mit.edu	37	5	140531911	140531911	+	Silent	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140531911G>C	uc003lir.2	+	c.2073G>C	c.(2071-2073)GCG>GCC	p.A691A	PCDHB6_uc011dah.1_Silent_p.A555A	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	691	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.392405	313.584682	315.965693	93	144	KEEP	---	---	---	---	capture		Silent	SNP	140531911	140531911	11966	5	G	C	C	C	509	40	PCDHB6	3	3
PCDHB14	56122	broad.mit.edu	37	5	140605336	140605336	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140605336G>T	uc003ljb.2	+	c.2259G>T	c.(2257-2259)GTG>GTT	p.V753V	PCDHB14_uc011dal.1_Silent_p.V600V	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	753	Cytoplasmic (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)			Ovarian(141;50 1831 27899 33809 37648)								0.358779	139.308295	141.600302	47	84	KEEP	---	---	---	---	capture		Silent	SNP	140605336	140605336	11959	5	G	T	T	T	613	48	PCDHB14	2	2
PCDHGA2	56113	broad.mit.edu	37	5	140719051	140719051	+	Silent	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140719051A>T	uc003ljk.1	+	c.513A>T	c.(511-513)GCA>GCT	p.A171A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.A171A	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	171	Extracellular (Potential).|Cadherin 2.				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)											0.361538	139.000646	141.189283	47	83	KEEP	---	---	---	---	capture		Silent	SNP	140719051	140719051	11974	5	A	T	T	T	67	6	PCDHGA2	3	3
PCDHGA2	56113	broad.mit.edu	37	5	140719959	140719959	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140719959T>C	uc003ljk.1	+	c.1421T>C	c.(1420-1422)GTG>GCG	p.V474A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.V474A	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	474	Extracellular (Potential).|Cadherin 5.				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)											0.130435	25.862537	44.196767	18	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140719959	140719959	11974	5	T	C	C	C	767	59	PCDHGA2	4	4
PCDHGA2	56113	broad.mit.edu	37	5	140720708	140720708	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140720708C>G	uc003ljk.1	+	c.2170C>G	c.(2170-2172)CTG>GTG	p.L724V	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.L724V|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	724	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)											0.423077	179.302476	179.974038	55	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140720708	140720708	11974	5	C	G	G	G	311	24	PCDHGA2	3	3
PCDHGA3	56112	broad.mit.edu	37	5	140723873	140723873	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140723873C>A	uc003ljm.1	+	c.273C>A	c.(271-273)GAC>GAA	p.D91E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.D91E	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	91	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.418367	116.955763	117.52616	41	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140723873	140723873	11975	5	C	A	A	A	233	18	PCDHGA3	2	2
PCDHGB3	56102	broad.mit.edu	37	5	140750326	140750326	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140750326T>A	uc003ljw.1	+	c.365T>A	c.(364-366)CTG>CAG	p.L122Q	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_uc011dat.1_Missense_Mutation_p.L122Q	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	122	Extracellular (Potential).|Cadherin 1.				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)											0.420455	348.68031	350.137936	111	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140750326	140750326	11984	5	T	A	A	A	715	55	PCDHGB3	3	3
PCDHGA10	56106	broad.mit.edu	37	5	140794977	140794977	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140794977G>T	uc003lkl.1	+	c.2235G>T	c.(2233-2235)GTG>GTT	p.V745V	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_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.V745V|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	745	Cytoplasmic (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)											0.485149	145.059714	145.079305	49	52	KEEP	---	---	---	---	capture		Silent	SNP	140794977	140794977	11971	5	G	T	T	T	600	47	PCDHGA10	2	2
KIAA0141	9812	broad.mit.edu	37	5	141303535	141303535	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141303535G>A	uc003lls.2	+	c.29G>A	c.(28-30)CGA>CAA	p.R10Q	KIAA0141_uc003llt.2_Missense_Mutation_p.R10Q	NM_001142603	NP_001136075	Q14154	K0141_HUMAN	hypothetical protein LOC9812 precursor	10						mitochondrion	binding				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.454545	16.375121	16.394714	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141303535	141303535	8463	5	G	A	A	A	481	37	KIAA0141	1	1
NR3C1	2908	broad.mit.edu	37	5	142780341	142780341	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:142780341C>A	uc003lmy.2	-	c.64G>T	c.(64-66)GAG>TAG	p.E22*	NR3C1_uc003lmz.2_Nonsense_Mutation_p.E22*|NR3C1_uc003lna.2_Nonsense_Mutation_p.E22*|NR3C1_uc003lnb.2_Nonsense_Mutation_p.E22*|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Nonsense_Mutation_p.E22*|NR3C1_uc003lnd.2_Nonsense_Mutation_p.E22*|NR3C1_uc003lne.2_Nonsense_Mutation_p.E22*|NR3C1_uc003lnf.2_Nonsense_Mutation_p.E22*|NR3C1_uc003lng.2_Nonsense_Mutation_p.E22*|NR3C1_uc003lnh.2_Nonsense_Mutation_p.E22*|NR3C1_uc003lni.2_Nonsense_Mutation_p.E22*	NM_001024094	NP_001019265	P04150	GCR_HUMAN	glucocorticoid receptor isoform gamma	22	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)					285				0.333333	72.967878	75.036408	28	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	142780341	142780341	11035	5	C	A	A	A	390	30	NR3C1	5	2
PRELID2	153768	broad.mit.edu	37	5	145202688	145202688	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145202688G>T	uc003lnp.1	-	c.85C>A	c.(85-87)CCC>ACC	p.P29T	PRELID2_uc003lnq.1_Missense_Mutation_p.P29T|PRELID2_uc003lno.1_5'UTR|PRELID2_uc003lnr.1_Missense_Mutation_p.P29T	NM_182960	NP_892005	Q8N945	PRLD2_HUMAN	PRELI domain containing 2 isoform a	29	PRELI/MSF1.										0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.148148	7.081536	10.290679	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145202688	145202688	12915	5	G	T	T	T	559	43	PRELID2	2	2
PDGFRB	5159	broad.mit.edu	37	5	149515439	149515439	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149515439C>A	uc003lro.2	-	c.43G>T	c.(43-45)GAG>TAG	p.E15*	PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Nonsense_Mutation_p.E15*	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	15					cardiac myofibril assembly|cell chemotaxis|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(3)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	11		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)					880				0.422222	54.714517	54.952519	19	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	149515439	149515439	12083	5	C	A	A	A	403	31	PDGFRB	5	1
CAMK2A	815	broad.mit.edu	37	5	149631370	149631370	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149631370C>A	uc003lrt.2	-	c.636G>T	c.(634-636)CCG>CCT	p.P212P	CAMK2A_uc003lru.2_Silent_p.P212P|CAMK2A_uc010jhe.2_Silent_p.P192P|CAMK2A_uc010jhf.1_Missense_Mutation_p.R50L	NM_015981	NP_057065	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II	212	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|protein phosphorylation|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)							161				0.277778	14.267703	15.067172	5	13	KEEP	---	---	---	---	capture		Silent	SNP	149631370	149631370	2716	5	C	A	A	A	236	19	CAMK2A	1	1
SLC36A2	153201	broad.mit.edu	37	5	150715005	150715005	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150715005G>T	uc003lty.2	-	c.629C>A	c.(628-630)CCC>CAC	p.P210H	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_Non-coding_Transcript|SLC36A2_uc003lua.2_Missense_Mutation_p.P12H|SLC36A2_uc010jhv.2_Missense_Mutation_p.P210H	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	210	Helical; (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.372093	130.456778	132.314262	48	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150715005	150715005	15091	5	G	T	T	T	559	43	SLC36A2	2	2
SPARC	6678	broad.mit.edu	37	5	151043710	151043710	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151043710T>G	uc003luh.2	-	c.821A>C	c.(820-822)GAC>GCC	p.D274A	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Missense_Mutation_p.D108A|SPARC_uc003lui.2_Missense_Mutation_p.D274A	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	274	|EF-hand.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)									0.410714	162.63881	163.416255	46	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151043710	151043710	15503	5	T	G	G	G	754	58	SPARC	4	4
KIF4B	285643	broad.mit.edu	37	5	154395249	154395250	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154395249_154395250TG>CT	uc010jih.1	+	c.1830_1831TG>CT	c.(1828-1833)GCTGAT>GCCTAT	p.D611Y		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	611	Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.491379	210.575689	210.583124	57	59	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	154395249	154395250	8615	5	TG	CT	CT	CT	704	55	KIF4B	4	4
HAVCR1	26762	broad.mit.edu	37	5	156476144	156476144	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156476144G>A	uc010jij.1	-	c.686C>T	c.(685-687)CCA>CTA	p.P229L	HAVCR1_uc011ddl.1_Missense_Mutation_p.P60L|HAVCR1_uc003lwi.2_Missense_Mutation_p.P229L	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	224	Extracellular (Potential).				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.345455	176.446397	179.916381	57	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156476144	156476144	7255	5	G	A	A	A	611	47	HAVCR1	2	2
ITK	3702	broad.mit.edu	37	5	156679624	156679624	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156679624A>G	uc003lwo.1	+	c.1799A>G	c.(1798-1800)GAA>GGA	p.E600G		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	600	Protein kinase.				cellular defense response|intracellular signal transduction|protein phosphorylation|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(8)|lung(4)|skin(3)|stomach(1)|central_nervous_system(1)	17	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			Esophageal Squamous(70;1378 1469 8785 19883)				330				0.367816	102.574973	103.912063	32	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156679624	156679624	8213	5	A	G	G	G	117	9	ITK	4	4
ATP10B	23120	broad.mit.edu	37	5	160031019	160031019	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160031019G>T	uc003lym.1	-	c.3190C>A	c.(3190-3192)CAA>AAA	p.Q1064K	ATP10B_uc010jit.1_Missense_Mutation_p.Q381K	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1064	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.359477	152.969566	155.635031	55	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160031019	160031019	1136	5	G	T	T	T	585	45	ATP10B	2	2
ATP10B	23120	broad.mit.edu	37	5	160097559	160097559	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160097559G>A	uc003lym.1	-	c.586C>T	c.(586-588)CCC>TCC	p.P196S	ATP10B_uc003lyp.2_Missense_Mutation_p.P196S|ATP10B_uc011deg.1_Missense_Mutation_p.P240S|ATP10B_uc003lyo.2_Missense_Mutation_p.P168S	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	196	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.432161	272.020244	272.818883	86	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160097559	160097559	1136	5	G	A	A	A	559	43	ATP10B	2	2
ODZ2	57451	broad.mit.edu	37	5	167553854	167553854	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167553854G>T	uc010jjd.2	+	c.2305G>T	c.(2305-2307)GTG>TTG	p.V769L	ODZ2_uc003lzr.3_Missense_Mutation_p.V537L|ODZ2_uc003lzt.3_Missense_Mutation_p.V133L|ODZ2_uc010jje.2_Missense_Mutation_p.V40L	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.466667	20.515315	20.530404	7	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167553854	167553854	11240	5	G	T	T	T	520	40	ODZ2	1	1
RARS	5917	broad.mit.edu	37	5	167943903	167943903	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167943903G>A	uc003lzx.2	+	c.1573G>A	c.(1573-1575)GAT>AAT	p.D525N	RARS_uc011deo.1_Missense_Mutation_p.D319N	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	525					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)										0.387417	362.402944	365.758457	117	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167943903	167943903	13518	5	G	A	A	A	429	33	RARS	2	2
SLIT3	6586	broad.mit.edu	37	5	168187941	168187941	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168187941C>T	uc010jjg.2	-	c.1611G>A	c.(1609-1611)CTG>CTA	p.L537L	SLIT3_uc003mab.2_Silent_p.L537L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	537	LRR 12.				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)								0.349515	100.641515	102.666734	36	67	KEEP	---	---	---	---	capture		Silent	SNP	168187941	168187941	15239	5	C	T	T	T	327	26	SLIT3	2	2
SLIT3	6586	broad.mit.edu	37	5	168310299	168310299	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168310299C>T	uc010jjg.2	-	c.456G>A	c.(454-456)GCG>GCA	p.A152A	SLIT3_uc003mab.2_Silent_p.A152A|SLIT3_uc010jji.2_Silent_p.A152A	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	152	LRR 4.				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)								0.369048	90.0028	91.268959	31	53	KEEP	---	---	---	---	capture		Silent	SNP	168310299	168310299	15239	5	C	T	T	T	236	19	SLIT3	1	1
LMAN2	10960	broad.mit.edu	37	5	176765534	176765534	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176765534C>A	uc003mge.2	-	c.388G>T	c.(388-390)GGA>TGA	p.G130*	LMAN2_uc003mgd.2_Nonsense_Mutation_p.G130*	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	130	Lumenal (Potential).|L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.425466	405.567637	407.138547	137	185	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	176765534	176765534	9167	5	C	A	A	A	273	21	LMAN2	5	2
F12	2161	broad.mit.edu	37	5	176831231	176831231	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176831231C>T	uc003mgo.3	-	c.984G>A	c.(982-984)ACG>ACA	p.T328T	F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_Non-coding_Transcript	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	328	Pro-rich.		T -> R (in HAE3).|T -> K (in HAE3).		blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	misfolded protein binding|serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)							140		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.307692	10.194399	10.623414	4	9	KEEP	---	---	---	---	capture		Silent	SNP	176831231	176831231	5533	5	C	T	T	T	392	31	F12	1	1
ADAMTS2	9509	broad.mit.edu	37	5	178552120	178552120	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178552120G>T	uc003mjw.2	-	c.2812C>A	c.(2812-2814)CGC>AGC	p.R938S		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	938	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)						1974				0.33758	135.69561	139.278549	53	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178552120	178552120	266	5	G	T	T	T	494	38	ADAMTS2	1	1
FLT4	2324	broad.mit.edu	37	5	180048182	180048182	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180048182C>A	uc003mlz.3	-	c.2091G>T	c.(2089-2091)ATG>ATT	p.M697I	FLT4_uc003mma.3_Missense_Mutation_p.M697I|FLT4_uc003mmb.1_Missense_Mutation_p.M230I|FLT4_uc011dgy.1_Missense_Mutation_p.M697I	NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	697	Ig-like C2-type 7.|Extracellular (Potential).				positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|vascular endothelial growth factor receptor activity			lung(3)|ovary(1)|central_nervous_system(1)|kidney(1)|skin(1)	7	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	Colon(97;1075 1466 27033 27547 35871)				2638				0.545455	112.204579	112.323327	36	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180048182	180048182	6186	5	C	A	A	A	325	25	FLT4	2	2
PRDM9	56979	broad.mit.edu	37	5	23522995	23522995	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23522995G>T	uc003jgo.2	+	c.882_splice	c.e8+1	p.L294_splice		NM_020227	NP_064612			PR domain containing 9						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.467742	86.262773	86.319363	29	33	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	23522995	23522995	12906	5	G	T	T	T	572	44	PRDM9	5	2
CDH10	1008	broad.mit.edu	37	5	24511577	24511577	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24511577G>T	uc003jgr.1	-	c.861C>A	c.(859-861)GCC>GCA	p.A287A	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	287	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.318182	59.749586	61.690012	21	45	KEEP	---	---	---	---	capture		Silent	SNP	24511577	24511577	3225	5	G	T	T	T	600	47	CDH10	2	2
CDH9	1007	broad.mit.edu	37	5	26885756	26885756	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26885756C>G	uc003jgs.1	-	c.1849G>C	c.(1849-1851)GTT>CTT	p.V617L	CDH9_uc011cnv.1_Missense_Mutation_p.V210L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	617	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.448276	48.073156	48.140546	13	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26885756	26885756	3246	5	C	G	G	G	247	19	CDH9	3	3
C5orf22	55322	broad.mit.edu	37	5	31538419	31538419	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31538419G>T	uc003jhj.3	+	c.430G>T	c.(430-432)GAC>TAC	p.D144Y	C5orf22_uc011cnw.1_Intron|C5orf22_uc003jhk.3_Intron	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	144										ovary(2)	2														0.330709	110.299233	113.528704	42	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31538419	31538419	2383	5	G	T	T	T	429	33	C5orf22	2	2
PDZD2	23037	broad.mit.edu	37	5	31799670	31799670	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31799670G>C	uc003jhl.2	+	c.315G>C	c.(313-315)AAG>AAC	p.K105N	PDZD2_uc003jhm.2_Missense_Mutation_p.K105N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	105	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.406452	222.494915	223.680784	63	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31799670	31799670	12122	5	G	C	C	C	425	33	PDZD2	3	3
ADAMTS12	81792	broad.mit.edu	37	5	33576960	33576960	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33576960G>T	uc003jia.1	-	c.3171C>A	c.(3169-3171)TCC>TCA	p.S1057S	ADAMTS12_uc010iuq.1_Silent_p.S972S	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1057	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.317073	73.318276	75.759329	26	56	KEEP	---	---	---	---	capture		Silent	SNP	33576960	33576960	258	5	G	T	T	T	600	47	ADAMTS12	2	2
C9	735	broad.mit.edu	37	5	39288979	39288979	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39288979G>A	uc003jlv.3	-	c.1491C>T	c.(1489-1491)GCC>GCT	p.A497A		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	497	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)											0.168675	25.990849	34.628822	14	69	KEEP	---	---	---	---	capture		Silent	SNP	39288979	39288979	2556	5	G	A	A	A	600	47	C9	2	2
C7	730	broad.mit.edu	37	5	40937675	40937675	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40937675G>T	uc003jmh.2	+	c.450G>T	c.(448-450)CAG>CAT	p.Q150H	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	150	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)												0.333333	26.467459	27.130947	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40937675	40937675	2482	5	G	T	T	T	464	36	C7	2	2
HCN1	348980	broad.mit.edu	37	5	45645362	45645362	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45645362C>G	uc003jok.2	-	c.774G>C	c.(772-774)AGG>AGC	p.R258S		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	258	Helical; Voltage-sensor; Name=Segment S4; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.354839	37.816555	38.392094	11	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45645362	45645362	7278	5	C	G	G	G	233	18	HCN1	3	3
ADAMTS16	170690	broad.mit.edu	37	5	5146429	5146429	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5146429C>A	uc003jdl.2	+	c.362C>A	c.(361-363)CCT>CAT	p.P121H	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P121H|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P121H	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	121					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.529851	201.016639	201.114276	71	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5146429	5146429	262	5	C	A	A	A	312	24	ADAMTS16	2	2
DDX4	54514	broad.mit.edu	37	5	55056085	55056085	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:55056085G>T	uc003jqg.3	+	c.185G>T	c.(184-186)GGG>GTG	p.G62V	DDX4_uc010ivz.2_Missense_Mutation_p.G62V|DDX4_uc003jqh.3_Missense_Mutation_p.G62V	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	62	Gly-rich.				multicellular organismal development|sperm motility	pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)												0.770492	158.554266	162.644362	47	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55056085	55056085	4531	5	G	T	T	T	559	43	DDX4	2	2
ANKRA2	57763	broad.mit.edu	37	5	72851384	72851384	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:72851384C>T	uc003kcu.1	-	c.541G>A	c.(541-543)GAA>AAA	p.E181K		NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	181	ANK 1.					cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding				0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)										0.416667	124.177448	124.760812	40	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72851384	72851384	639	5	C	T	T	T	416	32	ANKRA2	2	2
ADCY2	108	broad.mit.edu	37	5	7727279	7727279	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7727279C>A	uc003jdz.1	+	c.1776C>A	c.(1774-1776)TAC>TAA	p.Y592*	ADCY2_uc011cmo.1_Nonsense_Mutation_p.Y412*	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	592	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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.344262	63.254767	64.562326	21	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7727279	7727279	295	5	C	A	A	A	233	18	ADCY2	5	2
AP3B1	8546	broad.mit.edu	37	5	77385316	77385316	+	Silent	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:77385316T>A	uc003kfj.2	-	c.2478A>T	c.(2476-2478)CCA>CCT	p.P826P		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	826					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)										0.4	69.938211	70.419455	22	33	KEEP	---	---	---	---	capture		Silent	SNP	77385316	77385316	754	5	T	A	A	A	704	55	AP3B1	3	3
HAPLN1	1404	broad.mit.edu	37	5	82940463	82940463	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82940463G>T	uc003kim.2	-	c.494C>A	c.(493-495)CCA>CAA	p.P165Q	HAPLN1_uc003kin.2_Missense_Mutation_p.P165Q	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	165	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)	4		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)						115				0.411765	40.640713	40.872627	14	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82940463	82940463	7236	5	G	T	T	T	611	47	HAPLN1	2	2
BEND3	57673	broad.mit.edu	37	6	107391998	107391998	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107391998C>A	uc003prs.2	-	c.397G>T	c.(397-399)GGC>TGC	p.G133C		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	133										ovary(3)	3														0.42246	240.28821	241.270651	79	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107391998	107391998	1422	6	C	A	A	A	273	21	BEND3	2	2
SLC35F1	222553	broad.mit.edu	37	6	118475757	118475757	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:118475757A>G	uc003pxx.3	+	c.323A>G	c.(322-324)TAT>TGT	p.Y108C		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	108	Helical; (Potential).				transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)										0.423358	172.517079	173.216729	58	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118475757	118475757	15085	6	A	G	G	G	208	16	SLC35F1	4	4
PTPRK	5796	broad.mit.edu	37	6	128312508	128312508	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128312508G>C	uc011ebu.1	-	c.2976C>G	c.(2974-2976)TTC>TTG	p.F992L	PTPRK_uc003qbj.2_Missense_Mutation_p.F970L|PTPRK_uc010kfc.2_Missense_Mutation_p.F976L|PTPRK_uc003qbk.2_Missense_Mutation_p.F969L	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	969	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				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)										0.195652	26.54724	30.519225	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128312508	128312508	13262	6	G	C	C	C	425	33	PTPRK	3	3
PTPRK	5796	broad.mit.edu	37	6	128411061	128411061	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128411061C>A	uc011ebu.1	-	c.1239G>T	c.(1237-1239)TTG>TTT	p.L413F	PTPRK_uc003qbj.2_Missense_Mutation_p.L413F|PTPRK_uc010kfc.2_Missense_Mutation_p.L413F|PTPRK_uc003qbk.2_Missense_Mutation_p.L413F|PTPRK_uc003qbl.1_Missense_Mutation_p.L283F|PTPRK_uc011ebv.1_Missense_Mutation_p.L413F	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	413	Extracellular (Potential).|Fibronectin type-III 2.				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)										0.337838	68.939518	70.666602	25	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128411061	128411061	13262	6	C	A	A	A	272	21	PTPRK	2	2
LAMA2	3908	broad.mit.edu	37	6	129663545	129663545	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129663545G>A	uc003qbn.2	+	c.4369G>A	c.(4369-4371)GGA>AGA	p.G1457R	LAMA2_uc003qbo.2_Missense_Mutation_p.G1457R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1457	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.347826	116.369323	118.717915	40	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129663545	129663545	8929	6	G	A	A	A	611	47	LAMA2	2	2
ARHGAP18	93663	broad.mit.edu	37	6	129950633	129950633	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129950633C>A	uc003qbr.2	-	c.651G>T	c.(649-651)CTG>CTT	p.L217L	ARHGAP18_uc011ebw.1_Silent_p.L217L	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	217					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)										0.491667	177.109813	177.117305	59	61	KEEP	---	---	---	---	capture		Silent	SNP	129950633	129950633	879	6	C	A	A	A	366	29	ARHGAP18	2	2
SYNE1	23345	broad.mit.edu	37	6	152737697	152737697	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152737697C>A	uc010kiw.2	-	c.5875G>T	c.(5875-5877)GTA>TTA	p.V1959L	SYNE1_uc003qot.3_Missense_Mutation_p.V1966L|SYNE1_uc003qou.3_Missense_Mutation_p.V1959L|SYNE1_uc010kjb.1_Missense_Mutation_p.V1942L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1959	Cytoplasmic (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)										0.408397	295.557859	297.482064	107	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152737697	152737697	15966	6	C	A	A	A	234	18	SYNE1	2	2
SLC22A2	6582	broad.mit.edu	37	6	160679775	160679775	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160679775C>A	uc003qte.1	-	c.15G>T	c.(13-15)GTG>GTT	p.V5V	SLC22A2_uc003qtf.2_Silent_p.V5V|SLC22A2_uc003qth.1_Silent_p.V5V	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	5	Cytoplasmic (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)										0.457143	46.792702	46.849067	16	19	KEEP	---	---	---	---	capture		Silent	SNP	160679775	160679775	14947	6	C	A	A	A	262	21	SLC22A2	2	2
LPA	4018	broad.mit.edu	37	6	161027594	161027594	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161027594C>T	uc003qtl.2	-	c.2700G>A	c.(2698-2700)CTG>CTA	p.L900L		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3408	Kringle 30.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.25974	97.620035	105.677196	40	114	KEEP	---	---	---	---	capture		Silent	SNP	161027594	161027594	9276	6	C	T	T	T	366	29	LPA	2	2
QKI	9444	broad.mit.edu	37	6	163983080	163983080	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:163983080A>G	uc003qui.2	+	c.613A>G	c.(613-615)AGA>GGA	p.R205G	QKI_uc003que.2_Missense_Mutation_p.R205G|QKI_uc003quf.2_Missense_Mutation_p.R205G|QKI_uc003qug.2_Missense_Mutation_p.R205G|QKI_uc003quh.2_Missense_Mutation_p.R205G|QKI_uc003quj.2_Missense_Mutation_p.R205G	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	205					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)										0.381818	66.357354	67.032526	21	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163983080	163983080	13331	6	A	G	G	G	88	7	QKI	4	4
TTLL2	83887	broad.mit.edu	37	6	167753987	167753987	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167753987A>G	uc003qvs.1	+	c.599A>G	c.(598-600)CAG>CGG	p.Q200R	TTLL2_uc011egr.1_Non-coding_Transcript	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	200	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.378378	125.933129	127.369617	42	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167753987	167753987	17282	6	A	G	G	G	91	7	TTLL2	4	4
KIF25	3834	broad.mit.edu	37	6	168431482	168431482	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:168431482C>T	uc003qwk.1	+	c.122C>T	c.(121-123)GCG>GTG	p.A41V	KIF25_uc003qwl.1_Missense_Mutation_p.A41V	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	41	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)										0.425	200.910927	201.685857	68	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168431482	168431482	8604	6	C	T	T	T	351	27	KIF25	1	1
DLL1	28514	broad.mit.edu	37	6	170592416	170592416	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170592416C>A	uc003qxm.2	-	c.1951G>T	c.(1951-1953)GAC>TAC	p.D651Y		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	651	Cytoplasmic (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)						187				0.45122	94.340693	94.513084	37	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170592416	170592416	4746	6	C	A	A	A	403	31	DLL1	1	1
HIST1H4H	8365	broad.mit.edu	37	6	26285712	26285712	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26285712T>C	uc003nhm.2	-	c.16A>G	c.(16-18)AAA>GAA	p.K6E	HIST1H4H_uc003nhl.1_Non-coding_Transcript	NM_003543	NP_003534	P62805	H4_HUMAN	histone cluster 1, H4h	6					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2														0.425532	143.302034	143.752689	40	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26285712	26285712	7457	6	T	C	C	C	793	61	HIST1H4H	4	4
ABT1	29777	broad.mit.edu	37	6	26598745	26598745	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26598745C>T	uc003nii.2	+	c.691C>T	c.(691-693)CGT>TGT	p.R231C		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	231					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|general RNA polymerase II transcription factor activity|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1														0.242424	34.781982	38.766977	16	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26598745	26598745	102	6	C	T	T	T	247	19	ABT1	1	1
SCAND3	114821	broad.mit.edu	37	6	28543098	28543098	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28543098C>A	uc003nlo.2	-	c.1384G>T	c.(1384-1386)GGG>TGG	p.G462W		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	462	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.5	98.195761	98.195761	32	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28543098	28543098	14357	6	C	A	A	A	273	21	SCAND3	2	2
BAT2	7916	broad.mit.edu	37	6	31592974	31592974	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31592974C>A	uc003nvb.3	+	c.490C>A	c.(490-492)CGA>AGA	p.R164R	BAT2_uc011dnv.1_Non-coding_Transcript|BAT2_uc003nvc.3_Silent_p.R164R|BAT2_uc003nve.2_Silent_p.R27R	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	164	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0														0.482759	231.14584	231.183185	70	75	KEEP	---	---	---	---	capture		Silent	SNP	31592974	31592974	1340	6	C	A	A	A	243	19	BAT2	1	1
BAT4	7918	broad.mit.edu	37	6	31631770	31631770	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31631770G>A	uc003nvn.2	-	c.486C>T	c.(484-486)CTC>CTT	p.L162L	BAT4_uc003nvo.3_Silent_p.L162L|BAT4_uc003nvp.3_Silent_p.L162L|BAT4_uc003nvq.2_Silent_p.L162L|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank	NM_033177	NP_149417	O95872	GPAN1_HUMAN	HLA-B associated transcript 4	162	ANK 2.					intracellular	nucleic acid binding				0														0.114286	9.621481	19.826182	8	62	KEEP	---	---	---	---	capture		Silent	SNP	31631770	31631770	1344	6	G	A	A	A	522	41	BAT4	2	2
TNXB	7148	broad.mit.edu	37	6	32029430	32029430	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32029430C>A	uc003nzl.2	-	c.7236G>T	c.(7234-7236)CCG>CCT	p.P2412P		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2472	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.34375	65.16434	66.528657	22	42	KEEP	---	---	---	---	capture		Silent	SNP	32029430	32029430	16887	6	C	A	A	A	340	27	TNXB	1	1
ZBTB22	9278	broad.mit.edu	37	6	33282996	33282996	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33282996C>A	uc003oeb.2	-	c.1698G>T	c.(1696-1698)CGG>CGT	p.R566R	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.R566R	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.411765	69.599767	70.081348	28	40	KEEP	---	---	---	---	capture		Silent	SNP	33282996	33282996	18116	6	C	A	A	A	327	26	ZBTB22	2	2
DNAH8	1769	broad.mit.edu	37	6	38863991	38863991	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38863991T>C	uc003ooe.1	+	c.8279T>C	c.(8278-8280)ATA>ACA	p.I2760T		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	2760					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.427419	196.470142	197.036706	53	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38863991	38863991	4790	6	T	C	C	C	637	49	DNAH8	4	4
C6orf64	55776	broad.mit.edu	37	6	39082790	39082790	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39082790G>A	uc003ook.1	-	c.76C>T	c.(76-78)CAG>TAG	p.Q26*	C6orf64_uc011dty.1_Non-coding_Transcript|C6orf64_uc003oom.1_Non-coding_Transcript	NM_018322	NP_060792	Q9NPB0	CF064_HUMAN	hypothetical protein LOC55776	26	Ala-rich.					integral to membrane					0														0.32	41.388949	42.824908	16	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39082790	39082790	2475	6	G	A	A	A	585	45	C6orf64	5	2
SLC29A1	2030	broad.mit.edu	37	6	44200166	44200166	+	Splice_Site_SNP	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44200166G>A	uc003oww.1	+	c.1296_splice	c.e12+1	p.W432_splice	SLC29A1_uc003owu.1_Splice_Site_SNP_p.W353_splice|SLC29A1_uc003owv.1_Splice_Site_SNP_p.W353_splice|SLC29A1_uc003owx.1_Splice_Site_SNP_p.W353_splice|SLC29A1_uc003owy.1_Splice_Site_SNP_p.W353_splice|SLC29A1_uc003owz.1_Splice_Site_SNP_p.W353_splice	NM_004955	NP_004946			equilibrative nucleoside transporter 1						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			large_intestine(2)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)					184				0.433962	132.530286	132.933917	46	60	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	44200166	44200166	15031	6	G	A	A	A	572	44	SLC29A1	5	2
C6orf138	442213	broad.mit.edu	37	6	47846756	47846756	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47846756C>A	uc011dwm.1	-	c.1773G>T	c.(1771-1773)TTG>TTT	p.L591F	C6orf138_uc011dwn.1_Missense_Mutation_p.L355F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	608						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.350515	99.118961	101.032059	34	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47846756	47846756	2435	6	C	A	A	A	220	17	C6orf138	2	2
CDYL	9425	broad.mit.edu	37	6	4892563	4892563	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:4892563C>T	uc003mwi.2	+	c.803C>T	c.(802-804)CCC>CTC	p.P268L	CDYL_uc003mwj.2_Missense_Mutation_p.P214L|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.P82L|CDYL_uc011dhy.1_Missense_Mutation_p.P82L	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	268					chromatin assembly or disassembly|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	chromatin|nucleus	chromatin binding|histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)										0.402778	81.234837	81.83576	29	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4892563	4892563	3318	6	C	T	T	T	286	22	CDYL	2	2
PKHD1	5314	broad.mit.edu	37	6	51524215	51524215	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51524215G>A	uc003pah.1	-	c.10709C>T	c.(10708-10710)TCA>TTA	p.S3570L		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3570	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				0.150943	14.165851	20.352048	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51524215	51524215	12396	6	G	A	A	A	585	45	PKHD1	2	2
ICK	22858	broad.mit.edu	37	6	52871150	52871150	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52871150C>T	uc003pbh.2	-	c.1707G>A	c.(1705-1707)CAG>CAA	p.Q569Q	ICK_uc003pbi.2_Silent_p.Q569Q	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	569					intracellular protein kinase cascade|multicellular organismal development|protein phosphorylation	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)									283				0.14	34.965687	53.744029	21	129	KEEP	---	---	---	---	capture		Silent	SNP	52871150	52871150	7784	6	C	T	T	T	415	32	ICK	2	2
PRIM2	5558	broad.mit.edu	37	6	57512650	57512650	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:57512650C>A	uc003pdx.2	+	c.1478C>A	c.(1477-1479)TCT>TAT	p.S493Y		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	493					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)										0.14951	97.181335	145.275452	61	347	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57512650	57512650	12934	6	C	A	A	A	416	32	PRIM2	2	2
LGSN	51557	broad.mit.edu	37	6	63990184	63990184	+	Silent	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:63990184A>T	uc003peh.2	-	c.1272T>A	c.(1270-1272)GTT>GTA	p.V424V	LGSN_uc003pei.2_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	424					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(1)	1					L-Glutamic Acid(DB00142)									0.5	165.677061	165.677061	56	56	KEEP	---	---	---	---	capture		Silent	SNP	63990184	63990184	9085	6	A	T	T	T	54	5	LGSN	3	3
BAI3	577	broad.mit.edu	37	6	70040437	70040437	+	Silent	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70040437T>C	uc003pev.3	+	c.3075T>C	c.(3073-3075)TTT>TTC	p.F1025F	BAI3_uc010kak.2_Silent_p.F1025F|BAI3_uc011dxx.1_Silent_p.F231F|BAI3_uc003pex.1_Silent_p.F155F	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1025	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.363636	45.979467	46.702468	16	28	KEEP	---	---	---	---	capture		Silent	SNP	70040437	70040437	1321	6	T	C	C	C	816	63	BAI3	4	4
COL9A1	1297	broad.mit.edu	37	6	70926640	70926640	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70926640T>G	uc003pfg.3	-	c.2726A>C	c.(2725-2727)CAG>CCG	p.Q909P	COL9A1_uc003pfe.3_Missense_Mutation_p.Q458P|COL9A1_uc003pff.3_Missense_Mutation_p.Q666P	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	909	Nonhelical region (NC1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	extracellular matrix structural constituent conferring tensile strength|metal ion binding			ovary(4)	4														0.313433	60.149599	62.225756	21	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70926640	70926640	3845	6	T	G	G	G	715	55	COL9A1	4	4
NT5E	4907	broad.mit.edu	37	6	86176908	86176908	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:86176908T>C	uc003pko.3	+	c.470T>C	c.(469-471)CTT>CCT	p.L157P	NT5E_uc003pkn.2_Missense_Mutation_p.L157P|NT5E_uc010kbr.2_Missense_Mutation_p.L157P	NM_002526	NP_002517	P21589	5NTD_HUMAN	5' nucleotidase, ecto precursor	157					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			ovary(3)|central_nervous_system(1)	4		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	Melanoma(140;797 1765 2035 2752 18208)								0.467532	132.596848	132.66731	36	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86176908	86176908	11098	6	T	C	C	C	728	56	NT5E	4	4
SNX14	57231	broad.mit.edu	37	6	86223826	86223826	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:86223826T>A	uc003pkr.2	-	c.2519A>T	c.(2518-2520)CAG>CTG	p.Q840L	SNX14_uc003pkp.2_Missense_Mutation_p.Q703L|SNX14_uc003pkq.2_Missense_Mutation_p.Q446L|SNX14_uc011dzg.1_Missense_Mutation_p.Q788L|SNX14_uc003pks.2_Missense_Mutation_p.Q787L|SNX14_uc003pkt.2_Missense_Mutation_p.Q831L	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	840					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)										0.402597	98.613977	99.251033	31	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86223826	86223826	15385	6	T	A	A	A	715	55	SNX14	3	3
HTR1E	3354	broad.mit.edu	37	6	87725435	87725435	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87725435T>C	uc003pli.2	+	c.383T>C	c.(382-384)ATT>ACT	p.I128T		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	128	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)	2		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)									0.387387	150.304863	151.536809	43	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87725435	87725435	7739	6	T	C	C	C	676	52	HTR1E	4	4
RNGTT	8732	broad.mit.edu	37	6	89324034	89324034	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89324034C>T	uc003pmr.2	-	c.1587G>A	c.(1585-1587)CAG>CAA	p.Q529Q	RNGTT_uc003pms.2_Silent_p.Q506Q|RNGTT_uc011dzu.1_Silent_p.Q446Q	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	529	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)										0.423077	66.939726	67.208603	22	30	KEEP	---	---	---	---	capture		Silent	SNP	89324034	89324034	13982	6	C	T	T	T	415	32	RNGTT	2	2
PNRC1	10957	broad.mit.edu	37	6	89790770	89790770	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89790770C>T	uc003pmv.2	+	c.157C>T	c.(157-159)CCG>TCG	p.P53S	PNRC1_uc003pmu.2_Missense_Mutation_p.P53S|PNRC1_uc003pmx.2_5'Flank	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)							Multiple Myeloma(7;0.094)			0.428571	96.418488	96.746683	33	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89790770	89790770	12601	6	C	T	T	T	286	22	PNRC1	2	2
FUT9	10690	broad.mit.edu	37	6	96651667	96651667	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96651667C>A	uc003pop.3	+	c.636C>A	c.(634-636)AGC>AGA	p.S212R		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	212	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)	1		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		Melanoma(98;1369 1476 6592 22940 26587)								0.434783	30.246091	30.331483	10	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96651667	96651667	6362	6	C	A	A	A	324	25	FUT9	2	2
C7orf47	221908	broad.mit.edu	37	7	100033311	100033311	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100033311G>T	uc003uuy.1	-	c.531C>A	c.(529-531)GCC>GCA	p.A177A	C7orf47_uc003uux.1_Silent_p.A75A	NM_145030	NP_659467	Q8TAP8	CG047_HUMAN	hypothetical protein LOC221908	177										ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.294118	14.470313	15.113987	5	12	KEEP	---	---	---	---	capture		Silent	SNP	100033311	100033311	2504	7	G	T	T	T	496	39	C7orf47	1	1
RELN	5649	broad.mit.edu	37	7	103276759	103276759	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103276759G>T	uc003vca.2	-	c.2226C>A	c.(2224-2226)GCC>GCA	p.A742A	RELN_uc010liz.2_Silent_p.A742A	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	742					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.333333	30.912862	31.725251	11	22	KEEP	---	---	---	---	capture		Silent	SNP	103276759	103276759	13689	7	G	T	T	T	600	47	RELN	2	2
PIK3CG	5294	broad.mit.edu	37	7	106526625	106526625	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106526625A>G	uc003vdv.3	+	c.2918A>G	c.(2917-2919)AAA>AGA	p.K973R	PIK3CG_uc003vdu.2_Missense_Mutation_p.K973R|PIK3CG_uc003vdw.2_Missense_Mutation_p.K973R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	973	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.362319	88.858508	90.008686	25	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106526625	106526625	12340	7	A	G	G	G	13	1	PIK3CG	4	4
CBLL1	79872	broad.mit.edu	37	7	107398942	107398942	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107398942A>G	uc003veq.2	+	c.795A>G	c.(793-795)GCA>GCG	p.A265A	CBLL1_uc011kme.1_Silent_p.A144A|CBLL1_uc011kmf.1_Silent_p.A264A	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	265	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4														0.469136	125.144799	125.211776	38	43	KEEP	---	---	---	---	capture		Silent	SNP	107398942	107398942	2822	7	A	G	G	G	80	7	CBLL1	4	4
GPR85	54329	broad.mit.edu	37	7	112724477	112724477	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112724477C>A	uc010ljv.2	-	c.300G>T	c.(298-300)CTG>CTT	p.L100L	GPR85_uc003vgp.1_Silent_p.L100L|GPR85_uc003vgq.2_Silent_p.L100L|GPR85_uc010ljw.1_Silent_p.L100L	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	100	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.327731	110.780199	113.914035	39	80	KEEP	---	---	---	---	capture		Silent	SNP	112724477	112724477	6990	7	C	A	A	A	262	21	GPR85	2	2
THSD7A	221981	broad.mit.edu	37	7	11468641	11468641	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11468641G>A	uc003ssf.3	-	c.3176C>T	c.(3175-3177)TCT>TTT	p.S1059F		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1059	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.359431	298.265085	303.167042	101	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11468641	11468641	16407	7	G	A	A	A	429	33	THSD7A	2	2
THSD7A	221981	broad.mit.edu	37	7	11501698	11501698	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11501698C>A	uc003ssf.3	-	c.2441G>T	c.(2440-2442)TGC>TTC	p.C814F		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	814	TSP type-1 8.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.397059	154.191777	155.460915	54	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11501698	11501698	16407	7	C	A	A	A	325	25	THSD7A	2	2
FEZF1	389549	broad.mit.edu	37	7	121942184	121942184	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121942184G>T	uc003vkd.2	-	c.1295C>A	c.(1294-1296)ACG>AAG	p.T432K	FEZF1_uc003vkc.2_Missense_Mutation_p.T382K	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	432					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3														0.142857	11.795283	17.815327	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121942184	121942184	6062	7	G	T	T	T	520	40	FEZF1	1	1
TAS2R16	50833	broad.mit.edu	37	7	122635274	122635274	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122635274C>G	uc003vkl.1	-	c.415G>C	c.(415-417)GTA>CTA	p.V139L		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	139	Helical; Name=4; (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														0.395349	120.033133	120.857212	34	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122635274	122635274	16091	7	C	G	G	G	221	17	TAS2R16	3	3
LMOD2	442721	broad.mit.edu	37	7	123302795	123302795	+	Silent	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123302795T>A	uc003vky.2	+	c.1155T>A	c.(1153-1155)CCT>CCA	p.P385P		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	385	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding				0														0.416667	145.30242	146.034895	50	70	KEEP	---	---	---	---	capture		Silent	SNP	123302795	123302795	9186	7	T	A	A	A	678	53	LMOD2	3	3
GRM8	2918	broad.mit.edu	37	7	126173425	126173425	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126173425T>A	uc003vlr.2	-	c.2011A>T	c.(2011-2013)AAC>TAC	p.N671Y	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.N671Y|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	671	Cytoplasmic (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.463918	132.563818	132.673864	45	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126173425	126173425	7082	7	T	A	A	A	832	64	GRM8	3	3
STRA8	346673	broad.mit.edu	37	7	134925343	134925343	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134925343C>T	uc011kpx.1	+	c.133C>T	c.(133-135)CAG>TAG	p.Q45*		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	STRA8	45					DNA replication	cytoplasm|nucleus	transcription regulator activity				0														0.347826	82.958876	84.845134	32	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	134925343	134925343	15843	7	C	T	T	T	325	25	STRA8	5	2
NUP205	23165	broad.mit.edu	37	7	135290909	135290909	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135290909T>C	uc003vsw.2	+	c.2840T>C	c.(2839-2841)CTA>CCA	p.L947P		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	947					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.440994	254.609143	255.096632	71	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135290909	135290909	11164	7	T	C	C	C	689	53	NUP205	4	4
DENND2A	27147	broad.mit.edu	37	7	140246714	140246714	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140246714C>T	uc010lnj.2	-	c.2063G>A	c.(2062-2064)CGA>CAA	p.R688Q	DENND2A_uc011kre.1_Non-coding_Transcript|DENND2A_uc010lnk.2_Missense_Mutation_p.R688Q|DENND2A_uc003vvw.2_Missense_Mutation_p.R688Q|DENND2A_uc003vvx.2_Missense_Mutation_p.R688Q	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	688	DENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.321429	49.848382	51.424962	18	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140246714	140246714	4608	7	C	T	T	T	403	31	DENND2A	1	1
DGKB	1607	broad.mit.edu	37	7	14216479	14216479	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:14216479C>G	uc003ssz.2	-	c.2292G>C	c.(2290-2292)ATG>ATC	p.M764I	DGKB_uc011jxt.1_Missense_Mutation_p.M745I|DGKB_uc003sta.2_Missense_Mutation_p.M764I|DGKB_uc011jxu.1_Missense_Mutation_p.M763I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	764					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)					800				0.427027	283.799631	284.658566	79	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14216479	14216479	4645	7	C	G	G	G	325	25	DGKB	3	3
LOC441294	441294	broad.mit.edu	37	7	143268923	143268923	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143268923G>T	uc011kth.1	+	c.13G>T	c.(13-15)GGT>TGT	p.G5C		NM_001008747	NP_001008747	A4D2H0	A4D2H0_HUMAN	hypothetical protein LOC441294	5											0	Melanoma(164;0.0903)													0.254545	38.425558	41.431046	14	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143268923	143268923	9235	7	G	T	T	T	507	39	LOC441294	1	1
OR2F1	26211	broad.mit.edu	37	7	143657783	143657783	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143657783G>T	uc003wds.1	+	c.720G>T	c.(718-720)ACG>ACT	p.T240T		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0903)													0.387931	141.549907	142.826133	45	71	KEEP	---	---	---	---	capture		Silent	SNP	143657783	143657783	11402	7	G	T	T	T	509	40	OR2F1	1	1
OR2A12	346525	broad.mit.edu	37	7	143792896	143792896	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143792896C>A	uc011kty.1	+	c.696C>A	c.(694-696)GGC>GGA	p.G232G		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)													0.415686	279.848776	281.439494	106	149	KEEP	---	---	---	---	capture		Silent	SNP	143792896	143792896	11381	7	C	A	A	A	327	26	OR2A12	2	2
SSPO	23145	broad.mit.edu	37	7	149508066	149508066	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149508066G>T	uc010lpk.2	+	c.9460G>T	c.(9460-9462)GGC>TGC	p.G3154C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3154					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.809524	56.286158	58.166118	17	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149508066	149508066	15705	7	G	T	T	T	559	43	SSPO	2	2
MLL3	58508	broad.mit.edu	37	7	151962241	151962241	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151962241G>T	uc003wla.2	-	c.1066C>A	c.(1066-1068)CAG>AAG	p.Q356K		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	356	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.095694	8.34134	42.622332	20	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151962241	151962241	10012	7	G	T	T	T	585	45	MLL3	2	2
MLL3	58508	broad.mit.edu	37	7	151970897	151970897	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151970897C>A	uc003wla.2	-	c.905G>T	c.(904-906)TGT>TTT	p.C302F		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	302					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)			p.C302Y(RKO-Tumor)	1780				0.058824	-9.673088	14.586877	7	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151970897	151970897	10012	7	C	A	A	A	221	17	MLL3	2	2
TMEM195	392636	broad.mit.edu	37	7	15427053	15427053	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15427053C>A	uc003stb.1	-	c.935G>T	c.(934-936)GGT>GTT	p.G312V		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	312					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0														0.359477	161.477727	164.139955	55	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15427053	15427053	16652	7	C	A	A	A	234	18	TMEM195	2	2
ESYT2	57488	broad.mit.edu	37	7	158540942	158540942	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:158540942C>A	uc003wob.1	-	c.1668G>T	c.(1666-1668)TGG>TGT	p.W556C	ESYT2_uc003woc.1_Missense_Mutation_p.W380C|ESYT2_uc003wod.1_Missense_Mutation_p.W577C|ESYT2_uc003woa.1_Missense_Mutation_p.W133C	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	584	C2 2.					integral to membrane|plasma membrane				kidney(1)	1														0.875	280.125003	293.292613	84	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158540942	158540942	5458	7	C	A	A	A	286	22	ESYT2	2	2
DNAH11	8701	broad.mit.edu	37	7	21779201	21779201	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21779201G>T	uc003svc.2	+	c.7845G>T	c.(7843-7845)CAG>CAT	p.Q2615H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2615	AAA 3 (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														0.492063	93.419603	93.423143	31	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21779201	21779201	4781	7	G	T	T	T	425	33	DNAH11	2	2
C7orf31	136895	broad.mit.edu	37	7	25194768	25194768	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:25194768G>A	uc003sxn.1	-	c.457C>T	c.(457-459)CAC>TAC	p.H153Y	C7orf31_uc003sxm.1_5'UTR	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	153											0														0.156863	24.424949	35.89768	16	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25194768	25194768	2494	7	G	A	A	A	624	48	C7orf31	2	2
PDE1C	5137	broad.mit.edu	37	7	31864497	31864497	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31864497C>A	uc003tco.1	-	c.1570G>T	c.(1570-1572)GGA>TGA	p.G524*	PDE1C_uc003tcm.1_Nonsense_Mutation_p.G464*|PDE1C_uc003tcn.1_Nonsense_Mutation_p.G464*|PDE1C_uc003tcr.2_Nonsense_Mutation_p.G464*|PDE1C_uc003tcs.2_Nonsense_Mutation_p.G464*	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	464	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.430894	159.653131	160.166003	53	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31864497	31864497	12056	7	C	A	A	A	312	24	PDE1C	5	2
AMPH	273	broad.mit.edu	37	7	38424511	38424511	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:38424511C>A	uc003tgu.2	-	c.1996G>T	c.(1996-1998)GTG>TTG	p.V666L	AMPH_uc003tgv.2_Missense_Mutation_p.V624L|AMPH_uc003tgt.2_Missense_Mutation_p.V551L	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	666	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)	4														0.428571	83.032898	83.345425	30	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38424511	38424511	591	7	C	A	A	A	234	18	AMPH	2	2
VPS41	27072	broad.mit.edu	37	7	38791787	38791787	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:38791787G>A	uc003tgy.2	-	c.1915C>T	c.(1915-1917)CCA>TCA	p.P639S	VPS41_uc003tgz.2_Missense_Mutation_p.P614S|VPS41_uc010kxn.2_Missense_Mutation_p.P550S	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	639	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			central_nervous_system(1)	1														0.402367	212.262912	213.672666	68	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38791787	38791787	17777	7	G	A	A	A	559	43	VPS41	2	2
GCK	2645	broad.mit.edu	37	7	44190624	44190624	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44190624C>A	uc003tkk.1	-	c.417G>T	c.(415-417)CAG>CAT	p.Q139H	GCK_uc003tkj.1_Missense_Mutation_p.Q137H|GCK_uc003tkl.2_Missense_Mutation_p.Q138H	NM_033507	NP_277042	P35557	HXK4_HUMAN	glucokinase isoform 2	138					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			lung(1)|skin(1)	2										356				0.44186	110.233404	110.487513	38	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44190624	44190624	6559	7	C	A	A	A	415	32	GCK	2	2
CAMK2B	816	broad.mit.edu	37	7	44282850	44282850	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44282850A>T	uc003tkq.2	-	c.600T>A	c.(598-600)TGT>TGA	p.C200*	CAMK2B_uc003tkp.2_Nonsense_Mutation_p.C200*|CAMK2B_uc003tkx.2_Nonsense_Mutation_p.C200*|CAMK2B_uc010kyd.2_Non-coding_Transcript|CAMK2B_uc003tkr.2_Nonsense_Mutation_p.C200*|CAMK2B_uc003tks.2_Nonsense_Mutation_p.C200*|CAMK2B_uc003tku.2_Nonsense_Mutation_p.C200*|CAMK2B_uc003tkv.2_Nonsense_Mutation_p.C200*|CAMK2B_uc003tkt.2_Nonsense_Mutation_p.C200*|CAMK2B_uc003tkw.2_Nonsense_Mutation_p.C200*|CAMK2B_uc010kyc.2_Nonsense_Mutation_p.C200*	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	200	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2										200				0.314286	32.713181	33.786816	11	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	44282850	44282850	2717	7	A	T	T	T	76	6	CAMK2B	5	3
FOXK1	221937	broad.mit.edu	37	7	4780536	4780536	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4780536G>T	uc003snc.1	+	c.628G>T	c.(628-630)GCC>TCC	p.A210S	FOXK1_uc003sna.1_Missense_Mutation_p.A47S|FOXK1_uc003snb.1_Missense_Mutation_p.A210S	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	210					cell differentiation|embryo development|muscle organ development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)										0.470238	420.439236	420.704406	158	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4780536	4780536	6260	7	G	T	T	T	546	42	FOXK1	2	2
MMD2	221938	broad.mit.edu	37	7	4950852	4950852	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4950852A>G	uc003sno.3	-	c.391T>C	c.(391-393)TGG>CGG	p.W131R	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.3_Missense_Mutation_p.W131R|MMD2_uc010ksq.2_Missense_Mutation_p.W131R	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	131	Extracellular (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)										0.4	10.536235	10.639994	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4950852	4950852	10034	7	A	G	G	G	91	7	MMD2	4	4
ZNF117	51351	broad.mit.edu	37	7	64453245	64453245	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:64453245C>G	uc011kdr.1	-	c.151G>C	c.(151-153)GCT>CCT	p.A51P	ZNF117_uc003ttr.2_5'Flank	NM_001007253	NP_001007254	Q03924	ZN117_HUMAN	endogenous retroviral sequence 3	Error:Variant_position_missing_in_Q03924_after_alignment					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)												0.389831	156.226886	157.48018	46	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64453245	64453245	18308	7	C	G	G	G	325	25	ZNF117	3	3
GNAI1	2770	broad.mit.edu	37	7	79818431	79818431	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:79818431G>T	uc003uhb.1	+	c.187G>T	c.(187-189)GAA>TAA	p.E63*	GNAI1_uc011kgt.1_Nonsense_Mutation_p.E11*	NM_002069	NP_002060	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein),	63					cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			central_nervous_system(1)	1														0.483871	45.822479	45.829553	15	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	79818431	79818431	6773	7	G	T	T	T	429	33	GNAI1	5	2
PCLO	27445	broad.mit.edu	37	7	82544020	82544020	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82544020C>A	uc003uhx.2	-	c.13282G>T	c.(13282-13284)GCC>TCC	p.A4428S	PCLO_uc003uhv.2_Missense_Mutation_p.A4428S|PCLO_uc010lec.2_Missense_Mutation_p.A1393S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4359					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.434783	31.346501	31.431842	10	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82544020	82544020	12003	7	C	A	A	A	325	25	PCLO	2	2
PCLO	27445	broad.mit.edu	37	7	82581186	82581186	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82581186C>A	uc003uhx.2	-	c.9083G>T	c.(9082-9084)GGG>GTG	p.G3028V	PCLO_uc003uhv.2_Missense_Mutation_p.G3028V|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2959					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.351351	74.743235	76.178549	26	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82581186	82581186	12003	7	C	A	A	A	286	22	PCLO	2	2
SUN1	23353	broad.mit.edu	37	7	905691	905691	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:905691G>A	uc011jvp.1	+	c.1967G>A	c.(1966-1968)CGC>CAC	p.R656H	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc003sjf.2_Missense_Mutation_p.R573H|SUN1_uc011jvq.1_Missense_Mutation_p.R553H|SUN1_uc003sjg.2_Missense_Mutation_p.R561H|SUN1_uc011jvr.1_Missense_Mutation_p.R454H|SUN1_uc003sji.2_Missense_Mutation_p.R494H|SUN1_uc003sjk.2_Missense_Mutation_p.R295H	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	683	Perinuclear space.|SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0														0.528302	76.991389	77.027654	28	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	905691	905691	15911	7	G	A	A	A	494	38	SUN1	1	1
HEPACAM2	253012	broad.mit.edu	37	7	92844989	92844989	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92844989G>C	uc011khy.1	-	c.509C>G	c.(508-510)ACA>AGA	p.T170R	HEPACAM2_uc003uml.2_Missense_Mutation_p.T135R|HEPACAM2_uc010lff.2_Missense_Mutation_p.T135R|HEPACAM2_uc003umm.2_Missense_Mutation_p.T147R	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 2	147	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.212766	29.823515	33.406509	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92844989	92844989	7336	7	G	C	C	C	624	48	HEPACAM2	3	3
ZNF498	221785	broad.mit.edu	37	7	99220250	99220250	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99220250C>A	uc003url.1	+	c.668C>A	c.(667-669)ACT>AAT	p.T223N	ZNF498_uc003urm.1_Missense_Mutation_p.T59N|ZNF498_uc010lge.1_Missense_Mutation_p.T59N|ZNF498_uc003urn.2_Non-coding_Transcript|ZNF498_uc010lgf.1_Intron|ZNF498_uc003uro.1_Missense_Mutation_p.T7N	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	223					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)													0.503311	228.98532	228.986635	76	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99220250	99220250	18541	7	C	A	A	A	260	20	ZNF498	2	2
STAG3	10734	broad.mit.edu	37	7	99802356	99802356	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99802356C>A	uc003utx.1	+	c.2909C>A	c.(2908-2910)CCC>CAC	p.P970H	STAG3_uc011kjk.1_Missense_Mutation_p.P912H|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.P194H	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	970					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				0.357143	38.507647	39.264952	15	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99802356	99802356	15762	7	C	A	A	A	286	22	STAG3	2	2
MSRA	4482	broad.mit.edu	37	8	10177494	10177494	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10177494C>T	uc003wsx.2	+	c.538C>T	c.(538-540)CAA>TAA	p.Q180*	MSRA_uc011kwx.1_Nonsense_Mutation_p.Q140*|MSRA_uc011kwy.1_Nonsense_Mutation_p.Q137*|MSRA_uc003wsz.2_Nonsense_Mutation_p.Q137*|MSRA_uc003wsy.2_Nonsense_Mutation_p.Q114*	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	180					methionine metabolic process|oxidation-reduction process|protein modification process|response to oxidative stress		peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	NSCLC(88;1378 1469 30580 49103 52286)								0.26087	10.299499	11.527416	6	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10177494	10177494	10280	8	C	T	T	T	273	21	MSRA	5	2
OXR1	55074	broad.mit.edu	37	8	107752601	107752601	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:107752601G>T	uc011lht.1	+	c.2197G>T	c.(2197-2199)GGC>TGC	p.G733C	OXR1_uc003ymf.2_Missense_Mutation_p.G705C|OXR1_uc011lhu.1_Missense_Mutation_p.G698C|OXR1_uc010mcg.2_Non-coding_Transcript|OXR1_uc010mch.2_Missense_Mutation_p.G361C|OXR1_uc003ymk.2_Missense_Mutation_p.G102C|OXR1_uc003yml.2_Missense_Mutation_p.G75C	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	733	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)											0.392405	93.105851	93.907344	31	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107752601	107752601	11747	8	G	T	T	T	611	47	OXR1	2	2
CSMD3	114788	broad.mit.edu	37	8	113668392	113668392	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113668392G>T	uc003ynu.2	-	c.2995C>A	c.(2995-2997)CAT>AAT	p.H999N	CSMD3_uc003yns.2_Missense_Mutation_p.H271N|CSMD3_uc003ynt.2_Missense_Mutation_p.H959N|CSMD3_uc011lhx.1_Missense_Mutation_p.H895N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	999	Extracellular (Potential).|CUB 5.					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)			0.258065	19.583464	21.229221	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113668392	113668392	4087	8	G	T	T	T	585	45	CSMD3	2	2
TAF2	6873	broad.mit.edu	37	8	120803609	120803609	+	Silent	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120803609C>A	uc003you.2	-	c.1368G>T	c.(1366-1368)GTG>GTT	p.V456V		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	456					G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|promoter binding|protein binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)	5	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)											0.349206	62.228451	63.493732	22	41	KEEP	---	---	---	---	capture		Silent	SNP	120803609	120803609	16045	8	C	A	A	A	366	29	TAF2	2	2
WDR67	93594	broad.mit.edu	37	8	124132407	124132407	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124132407G>C	uc003ypp.1	+	c.1549G>C	c.(1549-1551)GAA>CAA	p.E517Q	WDR67_uc011lig.1_Missense_Mutation_p.E517Q|WDR67_uc011lih.1_Missense_Mutation_p.E407Q|WDR67_uc003ypq.1_Non-coding_Transcript|WDR67_uc003yps.1_Missense_Mutation_p.E230Q	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	517	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)											0.461538	22.949332	22.966042	6	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124132407	124132407	17891	8	G	C	C	C	585	45	WDR67	3	3
ATAD2	29028	broad.mit.edu	37	8	124381404	124381404	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124381404G>A	uc003yqh.3	-	c.943C>T	c.(943-945)CAG>TAG	p.Q315*	ATAD2_uc011lii.1_Nonsense_Mutation_p.Q106*|ATAD2_uc003yqi.3_Non-coding_Transcript|ATAD2_uc003yqj.2_Nonsense_Mutation_p.Q315*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)											0.127273	10.683672	18.137043	7	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	124381404	124381404	1090	8	G	A	A	A	611	47	ATAD2	5	2
MTSS1	9788	broad.mit.edu	37	8	125603417	125603417	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125603417C>A	uc003yrl.2	-	c.268G>T	c.(268-270)GAA>TAA	p.E90*	MTSS1_uc003yrk.2_Nonsense_Mutation_p.E90*|MTSS1_uc003yrj.2_Nonsense_Mutation_p.E90*	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	90	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			Esophageal Squamous(160;622 1893 3862 8546 12509)								0.571429	94.299762	94.547644	32	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125603417	125603417	10355	8	C	A	A	A	377	29	MTSS1	5	2
TMEM71	137835	broad.mit.edu	37	8	133771110	133771110	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133771110G>C	uc003ytp.2	-	c.16C>G	c.(16-18)CAA>GAA	p.Q6E	TMEM71_uc003ytn.2_Missense_Mutation_p.Q6E|TMEM71_uc003yto.2_Missense_Mutation_p.Q6E	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	6						integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)											0.238806	100.837336	109.180782	32	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133771110	133771110	16739	8	G	C	C	C	585	45	TMEM71	3	3
FAM135B	51059	broad.mit.edu	37	8	139164452	139164452	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139164452C>G	uc003yuy.2	-	c.2266G>C	c.(2266-2268)GAG>CAG	p.E756Q	FAM135B_uc003yux.2_Missense_Mutation_p.E657Q|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Missense_Mutation_p.E318Q|FAM135B_uc003yvb.2_Missense_Mutation_p.E318Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	756										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)											0.448276	93.844484	93.979551	26	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139164452	139164452	5646	8	C	G	G	G	377	29	FAM135B	3	3
FAM135B	51059	broad.mit.edu	37	8	139164698	139164698	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139164698C>G	uc003yuy.2	-	c.2020G>C	c.(2020-2022)GGG>CGG	p.G674R	FAM135B_uc003yux.2_Missense_Mutation_p.G575R|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Missense_Mutation_p.G236R|FAM135B_uc003yvb.2_Missense_Mutation_p.G236R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	674										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)											0.328	119.252839	122.575475	41	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139164698	139164698	5646	8	C	G	G	G	299	23	FAM135B	3	3
GLI4	2738	broad.mit.edu	37	8	144358399	144358399	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144358399G>C	uc003yxx.2	+	c.556G>C	c.(556-558)GAG>CAG	p.E186Q	ZFP41_uc003yxv.2_Non-coding_Transcript	NM_138465	NP_612474	P10075	GLI4_HUMAN	GLI-Kruppel family member GLI4	186	C2H2-type 1.					nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)											0.636364	24.125715	24.305311	7	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144358399	144358399	6708	8	G	C	C	C	481	37	GLI4	3	3
ZNF623	9831	broad.mit.edu	37	8	144733168	144733168	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144733168G>C	uc003yzd.2	+	c.1126G>C	c.(1126-1128)GAA>CAA	p.E376Q	ZNF623_uc011lkp.1_Missense_Mutation_p.E336Q|ZNF623_uc003yzc.2_Missense_Mutation_p.E336Q	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	376	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)											0.086957	8.624616	24.513712	8	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144733168	144733168	18642	8	G	C	C	C	585	45	ZNF623	3	3
OPLAH	26873	broad.mit.edu	37	8	145113186	145113186	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145113186T>C	uc003zar.3	-	c.905A>G	c.(904-906)TAC>TGC	p.Y302C	OPLAH_uc003zat.1_Missense_Mutation_p.Y80C	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	302							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)									0.333333	14.524186	14.805502	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145113186	145113186	11282	8	T	C	C	C	741	57	OPLAH	4	4
TUSC3	7991	broad.mit.edu	37	8	15480671	15480671	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:15480671G>T	uc003wwt.2	+	c.221G>T	c.(220-222)CGA>CTA	p.R74L	TUSC3_uc003wwr.2_Missense_Mutation_p.R74L|TUSC3_uc003wws.2_Missense_Mutation_p.R74L|TUSC3_uc003wwu.2_Missense_Mutation_p.R74L|TUSC3_uc003wwv.2_Missense_Mutation_p.R74L|TUSC3_uc003www.2_Missense_Mutation_p.R74L|TUSC3_uc003wwx.2_Non-coding_Transcript|TUSC3_uc003wwy.2_Missense_Mutation_p.R74L	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	74					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)										0.425287	118.767961	119.189875	37	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15480671	15480671	17334	8	G	T	T	T	481	37	TUSC3	1	1
MTMR7	9108	broad.mit.edu	37	8	17228696	17228696	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17228696G>A	uc003wxm.2	-	c.160C>T	c.(160-162)CAG>TAG	p.Q54*		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	54							protein tyrosine phosphatase activity				0				Colorectal(111;0.112)										0.389381	126.281226	127.489702	44	69	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	17228696	17228696	10341	8	G	A	A	A	585	45	MTMR7	5	2
SLC18A1	6570	broad.mit.edu	37	8	20004895	20004895	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:20004895G>T	uc011kyq.1	-	c.1338C>A	c.(1336-1338)TCC>TCA	p.S446S	SLC18A1_uc003wzl.2_Silent_p.S233S|SLC18A1_uc003wzm.2_Silent_p.S446S|SLC18A1_uc011kyr.1_Intron|SLC18A1_uc003wzn.2_Silent_p.S414S|SLC18A1_uc010ltf.2_Non-coding_Transcript|SLC18A1_uc003wzo.2_Silent_p.S414S	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),	446	Lumenal, vesicle (Potential).				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2				Colorectal(74;0.0747)										0.409836	67.828621	68.26963	25	36	KEEP	---	---	---	---	capture		Silent	SNP	20004895	20004895	14921	8	G	T	T	T	600	47	SLC18A1	2	2
DOCK5	80005	broad.mit.edu	37	8	25222219	25222219	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25222219A>T	uc003xeg.2	+	c.3122A>T	c.(3121-3123)CAG>CTG	p.Q1041L	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.Q755L|DOCK5_uc003xei.2_Missense_Mutation_p.Q611L|DOCK5_uc003xej.2_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1041						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		Pancreas(145;34 1887 3271 10937 30165)								0.545455	19.250693	19.270431	6	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25222219	25222219	4874	8	A	T	T	T	91	7	DOCK5	3	3
TEX15	56154	broad.mit.edu	37	8	30703090	30703090	+	Silent	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30703090T>A	uc003xil.2	-	c.3444A>T	c.(3442-3444)TCA>TCT	p.S1148S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1148	Ser-rich.									ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.430233	118.163723	118.528433	37	49	KEEP	---	---	---	---	capture		Silent	SNP	30703090	30703090	16306	8	T	A	A	A	704	55	TEX15	3	3
TEX15	56154	broad.mit.edu	37	8	30706080	30706080	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30706080G>T	uc003xil.2	-	c.454C>A	c.(454-456)CAA>AAA	p.Q152K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	152										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.375	129.945113	131.591221	45	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30706080	30706080	16306	8	G	T	T	T	611	47	TEX15	2	2
PURG	29942	broad.mit.edu	37	8	30890181	30890181	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30890181G>C	uc003xin.2	-	c.118C>G	c.(118-120)CCC>GCC	p.P40A	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.P40A	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	40						nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)										0.3125	13.569387	14.070058	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30890181	30890181	13287	8	G	C	C	C	559	43	PURG	3	3
ANK1	286	broad.mit.edu	37	8	41550662	41550662	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41550662G>C	uc003xom.2	-	c.3713C>G	c.(3712-3714)GCC>GGC	p.A1238G	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.A513G|ANK1_uc003xoi.2_Missense_Mutation_p.A1197G|ANK1_uc003xoj.2_Missense_Mutation_p.A1197G|ANK1_uc003xok.2_Missense_Mutation_p.A1197G|ANK1_uc003xol.2_Missense_Mutation_p.A1197G	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	1197					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)											0.126316	21.5373	34.478413	12	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41550662	41550662	623	8	G	C	C	C	546	42	ANK1	3	3
CHRNA6	8973	broad.mit.edu	37	8	42620311	42620311	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42620311T>C	uc003xpj.2	-	c.116A>G	c.(115-117)CAC>CGC	p.H39R	CHRNA6_uc011lcw.1_Missense_Mutation_p.H39R	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	39	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)											0.455497	257.043777	257.377363	87	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42620311	42620311	3521	8	T	C	C	C	767	59	CHRNA6	4	4
KIAA0146	23514	broad.mit.edu	37	8	48647874	48647874	+	Nonsense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48647874C>G	uc003xqd.2	+	c.2610C>G	c.(2608-2610)TAC>TAG	p.Y870*	KIAA0146_uc011ldc.1_Nonsense_Mutation_p.Y800*|KIAA0146_uc011ldd.1_Missense_Mutation_p.R811G|KIAA0146_uc003xqe.2_Nonsense_Mutation_p.Y345*|KIAA0146_uc003xqf.2_Non-coding_Transcript|KIAA0146_uc010lxt.2_Missense_Mutation_p.T503R|KIAA0146_uc011ldf.1_Nonsense_Mutation_p.Y375*|KIAA0146_uc011ldg.1_Nonsense_Mutation_p.Y360*|KIAA0146_uc003xqg.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	870											0		Lung NSC(58;0.175)												0.427984	373.171158	374.268663	104	139	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48647874	48647874	8464	8	C	G	G	G	246	19	KIAA0146	5	3
PRKDC	5591	broad.mit.edu	37	8	48733455	48733455	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48733455T>G	uc003xqi.2	-	c.9161A>C	c.(9160-9162)CAG>CCG	p.Q3054P	PRKDC_uc003xqj.2_Missense_Mutation_p.Q3054P|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3054	KIP-binding.|FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.318182	61.946085	63.888983	21	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48733455	48733455	12964	8	T	G	G	G	715	55	PRKDC	4	4
PXDNL	137902	broad.mit.edu	37	8	52469407	52469407	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52469407C>G	uc003xqu.3	-	c.373G>C	c.(373-375)GAA>CAA	p.E125Q		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	125	LRR 4.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.222222	12.790164	14.067728	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52469407	52469407	13306	8	C	G	G	G	390	30	PXDNL	3	3
PLAG1	5324	broad.mit.edu	37	8	57080660	57080660	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:57080660T>C	uc003xsq.3	-	c.169A>G	c.(169-171)ACA>GCA	p.T57A	PLAG1_uc003xsr.3_Missense_Mutation_p.T57A|PLAG1_uc010lyi.2_Missense_Mutation_p.T57A|PLAG1_uc010lyj.2_Intron	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	57	Interacts with KPNA2.|Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)							45				0.578947	112.384115	112.694324	33	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57080660	57080660	12444	8	T	C	C	C	767	59	PLAG1	4	4
UBXN2B	137886	broad.mit.edu	37	8	59358602	59358602	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:59358602A>T	uc003xtl.2	+	c.808A>T	c.(808-810)ATA>TTA	p.I270L		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	270	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				ovary(2)	2														0.418182	71.421443	71.741183	23	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59358602	59358602	17473	8	A	T	T	T	156	12	UBXN2B	3	3
CYP7A1	1581	broad.mit.edu	37	8	59409478	59409478	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:59409478T>C	uc003xtm.3	-	c.593A>G	c.(592-594)CAG>CGG	p.Q198R		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	198					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|oxidation-reduction process|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)												0.353846	145.313305	147.760832	46	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59409478	59409478	4361	8	T	C	C	C	715	55	CYP7A1	4	4
ANGPT2	285	broad.mit.edu	37	8	6389855	6389855	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:6389855G>T	uc003wqj.3	-	c.442C>A	c.(442-444)CAA>AAA	p.Q148K	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.Q148K|ANGPT2_uc010lri.2_Intron|ANGPT2_uc003wql.3_Missense_Mutation_p.Q148K	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	148					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding				0		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)										0.359756	167.865025	170.71082	59	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6389855	6389855	614	8	G	T	T	T	611	47	ANGPT2	2	2
CRH	1392	broad.mit.edu	37	8	67089174	67089174	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67089174A>T	uc003xvy.1	-	c.539T>A	c.(538-540)TTA>TAA	p.L180*		NM_000756	NP_000747	P06850	CRF_HUMAN	corticotropin releasing hormone precursor	180					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity				0		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)							OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.419355	112.20486	112.733387	39	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	67089174	67089174	4008	8	A	T	T	T	169	13	CRH	5	3
MYBL1	4603	broad.mit.edu	37	8	67488548	67488548	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67488548G>C	uc003xwj.2	-	c.1164C>G	c.(1162-1164)ATC>ATG	p.I388M	MYBL1_uc003xwl.2_Missense_Mutation_p.I388M|MYBL1_uc003xwk.2_Missense_Mutation_p.I387M	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	388	Negative regulatory domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)											0.034783	-34.708631	19.439886	8	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67488548	67488548	10404	8	G	C	C	C	577	45	MYBL1	3	3
DEFA4	1669	broad.mit.edu	37	8	6794318	6794318	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:6794318C>A	uc003wqu.1	-	c.104G>T	c.(103-105)CGT>CTT	p.R35L		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	35					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)										0.427273	145.701097	146.209351	47	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6794318	6794318	4562	8	C	A	A	A	247	19	DEFA4	1	1
TRPA1	8989	broad.mit.edu	37	8	72975803	72975803	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72975803T>C	uc003xza.2	-	c.556A>G	c.(556-558)AAA>GAA	p.K186E		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	186	Cytoplasmic (Potential).|ANK 4.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)									0.5	94.478926	94.478926	25	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72975803	72975803	17128	8	T	C	C	C	793	61	TRPA1	4	4
KCNB2	9312	broad.mit.edu	37	8	73849879	73849879	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:73849879G>T	uc003xzb.2	+	c.2289G>T	c.(2287-2289)CAG>CAT	p.Q763H		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	763	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4	Breast(64;0.137)		Epithelial(68;0.105)											0.446809	313.737808	314.318092	105	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73849879	73849879	8318	8	G	T	T	T	451	35	KCNB2	2	2
ZFHX4	79776	broad.mit.edu	37	8	77767525	77767525	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77767525G>A	uc003yav.2	+	c.8233G>A	c.(8233-8235)GAG>AAG	p.E2745K	ZFHX4_uc003yau.1_Missense_Mutation_p.E2790K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E2745K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2745					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.319149	40.806093	42.173417	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77767525	77767525	18223	8	G	A	A	A	585	45	ZFHX4	2	2
SLC7A13	157724	broad.mit.edu	37	8	87229891	87229891	+	Silent	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87229891T>A	uc003ydq.1	-	c.987A>T	c.(985-987)ACA>ACT	p.T329T	SLC7A13_uc003ydr.1_Silent_p.T320T	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	329	Cytoplasmic (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1														0.414141	128.260569	128.896977	41	58	KEEP	---	---	---	---	capture		Silent	SNP	87229891	87229891	15192	8	T	A	A	A	756	59	SLC7A13	3	3
CNGB3	54714	broad.mit.edu	37	8	87680295	87680295	+	Missense_Mutation	SNP	C	G	G	rs114305748	by1000genomes	TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87680295C>G	uc003ydx.2	-	c.595G>C	c.(595-597)GAG>CAG	p.E199Q	CNGB3_uc010maj.2_Missense_Mutation_p.E61Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	199	Cytoplasmic (Potential).		E -> K (in ACHM3; uncertain pathogenicity).		signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.448276	221.930361	222.271622	65	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87680295	87680295	3739	8	C	G	G	G	416	32	CNGB3	3	3
CNBD1	168975	broad.mit.edu	37	8	88296931	88296931	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88296931C>G	uc003ydy.2	+	c.797C>G	c.(796-798)ACT>AGT	p.T266S		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	266										ovary(3)	3														0.65	50.981635	51.378599	13	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88296931	88296931	3729	8	C	G	G	G	260	20	CNBD1	3	3
DCAF4L2	138009	broad.mit.edu	37	8	88885768	88885768	+	Silent	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88885768C>G	uc003ydz.2	-	c.432G>C	c.(430-432)CTG>CTC	p.L144L		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	144										ovary(1)	1														0.446809	152.342715	152.573921	42	52	KEEP	---	---	---	---	capture		Silent	SNP	88885768	88885768	4443	8	C	G	G	G	210	17	DCAF4L2	3	3
RAD54B	25788	broad.mit.edu	37	8	95412520	95412520	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95412520T>A	uc003ygk.2	-	c.1116A>T	c.(1114-1116)AAA>AAT	p.K372N	RAD54B_uc010may.1_Missense_Mutation_p.K179N|RAD54B_uc003ygl.1_Non-coding_Transcript	NM_012415	NP_036547	Q9Y620	RA54B_HUMAN	RAD54 homolog B	372	Helicase ATP-binding.				mitotic recombination|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA helicase activity|RNA helicase activity			kidney(2)|lung(1)	3	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)											0.532258	106.378218	106.434274	33	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95412520	95412520	13452	8	T	A	A	A	725	56	RAD54B	3	3
KIAA1429	25962	broad.mit.edu	37	8	95539314	95539314	+	Silent	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95539314T>A	uc003ygo.1	-	c.1158A>T	c.(1156-1158)ACA>ACT	p.T386T	KIAA1429_uc003ygp.2_Silent_p.T386T|KIAA1429_uc010maz.1_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	386					mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)											0.448276	293.110695	293.582127	91	112	KEEP	---	---	---	---	capture		Silent	SNP	95539314	95539314	8540	8	T	A	A	A	704	55	KIAA1429	3	3
CYLC2	1539	broad.mit.edu	37	9	105767808	105767808	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:105767808G>T	uc004bbs.2	+	c.895G>T	c.(895-897)GAT>TAT	p.D299Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	299	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)												0.5	11.499079	11.499079	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105767808	105767808	4307	9	G	T	T	T	429	33	CYLC2	2	2
KIAA1958	158405	broad.mit.edu	37	9	115337153	115337153	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:115337153G>A	uc011lwx.1	+	c.793G>A	c.(793-795)GAC>AAC	p.D265N	KIAA1958_uc004bgf.1_Missense_Mutation_p.D265N	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	265											0														0.413681	398.859242	400.859565	127	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115337153	115337153	8575	9	G	A	A	A	429	33	KIAA1958	2	2
ORM1	5004	broad.mit.edu	37	9	117086000	117086000	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117086000T>G	uc004bik.3	+	c.172T>G	c.(172-174)TCG>GCG	p.S58A	ORM1_uc011lxo.1_Missense_Mutation_p.S58A	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	58					acute-phase response|regulation of immune system process	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)									0.160377	39.310773	50.945304	17	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117086000	117086000	11678	9	T	G	G	G	754	58	ORM1	4	4
ASTN2	23245	broad.mit.edu	37	9	119737521	119737521	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119737521C>A	uc004bjs.1	-	c.1855G>T	c.(1855-1857)GAT>TAT	p.D619Y	ASTN2_uc004bjr.1_Missense_Mutation_p.D615Y|ASTN2_uc004bjt.1_Missense_Mutation_p.D568Y	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	619	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.341463	78.769937	80.593602	28	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119737521	119737521	1084	9	C	A	A	A	403	31	ASTN2	1	1
DBC1	1620	broad.mit.edu	37	9	121929385	121929385	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:121929385G>T	uc004bkc.2	-	c.2263C>A	c.(2263-2265)CAG>AAG	p.Q755K		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	755					cell cycle arrest|cell death	cytoplasm	protein binding			ovary(2)|central_nervous_system(2)|large_intestine(1)	5														0.419214	286.937837	288.246992	96	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121929385	121929385	4418	9	G	T	T	T	611	47	DBC1	2	2
CDK5RAP2	55755	broad.mit.edu	37	9	123201727	123201727	+	Silent	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123201727G>A	uc004bkf.2	-	c.3672C>T	c.(3670-3672)TTC>TTT	p.F1224F	CDK5RAP2_uc010mvi.2_Silent_p.F233F|CDK5RAP2_uc004bke.2_Silent_p.F509F|CDK5RAP2_uc004bkg.2_Silent_p.F1224F|CDK5RAP2_uc011lxw.1_Silent_p.F489F|CDK5RAP2_uc011lxx.1_Non-coding_Transcript|CDK5RAP2_uc011lxy.1_Non-coding_Transcript|CDK5RAP2_uc011lxz.1_Silent_p.F489F|CDK5RAP2_uc011lya.1_Silent_p.F489F|CDK5RAP2_uc004bkh.1_Silent_p.F994F|CDK5RAP2_uc004bki.2_Silent_p.F991F	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1224					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|promoter binding			ovary(2)|lung(1)|skin(1)	4												OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.053097	-12.049778	11.78798	6	107	KEEP	---	---	---	---	capture		Silent	SNP	123201727	123201727	3275	9	G	A	A	A	581	45	CDK5RAP2	2	2
STOM	2040	broad.mit.edu	37	9	124103597	124103597	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:124103597G>T	uc004blh.2	-	c.750C>A	c.(748-750)CTC>CTA	p.L250L	STOM_uc011lyk.1_Silent_p.L199L|STOM_uc004bli.2_Silent_p.L85L	NM_004099	NP_004090	P27105	STOM_HUMAN	stomatin isoform a	250	Cytoplasmic (Potential).				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding				0				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)										0.37069	230.174695	233.588874	86	146	KEEP	---	---	---	---	capture		Silent	SNP	124103597	124103597	15832	9	G	T	T	T	522	41	STOM	2	2
OR1Q1	158131	broad.mit.edu	37	9	125377019	125377019	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125377019G>A	uc011lyy.1	+	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.408696	129.39433	130.234193	47	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125377019	125377019	11377	9	G	A	A	A	611	47	OR1Q1	2	2
OR1Q1	158131	broad.mit.edu	37	9	125377246	125377246	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125377246C>A	uc011lyy.1	+	c.230C>A	c.(229-231)ACG>AAG	p.T77K		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.404412	354.528351	356.690741	110	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125377246	125377246	11377	9	C	A	A	A	247	19	OR1Q1	1	1
CRB2	286204	broad.mit.edu	37	9	126132933	126132933	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:126132933G>T	uc004bnx.1	+	c.1601G>T	c.(1600-1602)CGG>CTG	p.R534L	CRB2_uc004bnw.1_Missense_Mutation_p.R534L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	534	Extracellular (Potential).|Laminin G-like 1.		R -> Q.			extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.4375	127.129279	127.45706	42	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126132933	126132933	3988	9	G	T	T	T	507	39	CRB2	1	1
MAPKAP1	79109	broad.mit.edu	37	9	128347858	128347858	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:128347858C>A	uc004bpv.2	-	c.647G>T	c.(646-648)AGC>ATC	p.S216I	MAPKAP1_uc011lzt.1_Missense_Mutation_p.S19I|MAPKAP1_uc010mwz.2_Non-coding_Transcript|MAPKAP1_uc011lzu.1_Missense_Mutation_p.S19I|MAPKAP1_uc011lzv.1_Missense_Mutation_p.S19I|MAPKAP1_uc004bpw.2_Missense_Mutation_p.S24I|MAPKAP1_uc004bpx.2_Missense_Mutation_p.S24I|MAPKAP1_uc004bpy.2_Missense_Mutation_p.S216I|MAPKAP1_uc004bpz.2_Missense_Mutation_p.S216I|MAPKAP1_uc010mxa.2_Non-coding_Transcript|MAPKAP1_uc010mxb.1_Missense_Mutation_p.S19I|MAPKAP1_uc004bqa.2_Missense_Mutation_p.S216I|MAPKAP1_uc010mxc.1_Missense_Mutation_p.S88I	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	216					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4														0.448598	135.874111	136.121926	48	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128347858	128347858	9671	9	C	A	A	A	364	28	MAPKAP1	2	2
ST6GALNAC4	27090	broad.mit.edu	37	9	130676970	130676970	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130676970G>C	uc004bss.2	-	c.163C>G	c.(163-165)CAC>GAC	p.H55D	ST6GALNAC4_uc004bst.2_5'UTR	NM_175039	NP_778204	Q9H4F1	SIA7D_HUMAN	sialyltransferase 7D isoform a	55	Lumenal (Potential).				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity				0														0.148148	9.881482	13.089958	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130676970	130676970	15744	9	G	C	C	C	598	46	ST6GALNAC4	3	3
DNM1	1759	broad.mit.edu	37	9	131009749	131009749	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131009749A>T	uc011mau.1	+	c.1877A>T	c.(1876-1878)TAC>TTC	p.Y626F	DNM1_uc011mat.1_Missense_Mutation_p.Y626F|DNM1_uc004bub.1_5'UTR|DNM1_uc004buc.1_Missense_Mutation_p.Y93F|DNM1_uc004bud.3_Non-coding_Transcript|MIR199B_hsa-mir-199b|MI0000282_5'Flank	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	626					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity|motor activity			ovary(2)	2						GBM(113;146 1575 2722 28670 29921)								0.322581	27.943437	28.807631	10	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131009749	131009749	4853	9	A	T	T	T	182	14	DNM1	3	3
SH3GLB2	56904	broad.mit.edu	37	9	131774573	131774573	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131774573A>G	uc004bww.2	-	c.578T>C	c.(577-579)GTG>GCG	p.V193A	SH3GLB2_uc004bwv.2_Missense_Mutation_p.V189A|SH3GLB2_uc004bwx.1_Missense_Mutation_p.V189A|SH3GLB2_uc011mbm.1_Missense_Mutation_p.V193A	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	189	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0														0.666667	11.794817	11.9407	4	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131774573	131774573	14746	9	A	G	G	G	78	6	SH3GLB2	4	4
CAMSAP1	157922	broad.mit.edu	37	9	138713293	138713293	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138713293G>A	uc004cgr.3	-	c.3214C>T	c.(3214-3216)CCA>TCA	p.P1072S	CAMSAP1_uc004cgq.3_Missense_Mutation_p.P962S|CAMSAP1_uc010nbg.2_Missense_Mutation_p.P794S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1072						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)										0.439024	101.07783	101.34478	36	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138713293	138713293	2728	9	G	A	A	A	572	44	CAMSAP1	2	2
SEC16A	9919	broad.mit.edu	37	9	139368707	139368707	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139368707T>C	uc004chx.2	-	c.3361A>G	c.(3361-3363)AGC>GGC	p.S1121G	SEC16A_uc004chv.3_Missense_Mutation_p.S511G|SEC16A_uc004chw.2_Missense_Mutation_p.S1121G|SEC16A_uc010nbn.2_Missense_Mutation_p.S1121G|SEC16A_uc010nbo.1_Missense_Mutation_p.S1121G	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	943	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)										0.4375	23.124551	23.178635	7	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139368707	139368707	14472	9	T	C	C	C	689	53	SEC16A	4	4
IFNA4	3441	broad.mit.edu	37	9	21187458	21187458	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21187458C>A	uc003zon.2	-	c.73G>T	c.(73-75)GAT>TAT	p.D25Y		NM_021068	NP_066546	P05014	IFNA4_HUMAN	interferon, alpha 4 precursor	25					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		NSCLC(154;890 1986 23660 27800 51138)								0.4	55.850318	56.297915	20	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21187458	21187458	7840	9	C	A	A	A	377	29	IFNA4	2	2
IFNA7	3444	broad.mit.edu	37	9	21201973	21201973	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21201973C>G	uc003zop.1	-	c.192G>C	c.(190-192)GAG>GAC	p.E64D	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7 precursor	64					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)										0.425197	162.799995	163.425274	54	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21201973	21201973	7843	9	C	G	G	G	311	24	IFNA7	3	3
KCNV2	169522	broad.mit.edu	37	9	2717919	2717919	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:2717919C>T	uc003zho.1	+	c.180C>T	c.(178-180)GAC>GAT	p.D60D		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	60	Cytoplasmic (Potential).				response to stimulus|visual perception	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(50;0.0257)										0.371069	160.645791	162.979605	59	100	KEEP	---	---	---	---	capture		Silent	SNP	2717919	2717919	8400	9	C	T	T	T	246	19	KCNV2	1	1
ALDH1B1	219	broad.mit.edu	37	9	38396249	38396249	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:38396249C>G	uc004aay.2	+	c.504C>G	c.(502-504)TTC>TTG	p.F168L		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	168					carbohydrate metabolic process|oxidation-reduction process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity				0				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)									0.133333	27.912513	43.576783	16	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38396249	38396249	496	9	C	G	G	G	415	32	ALDH1B1	3	3
TMC1	117531	broad.mit.edu	37	9	75366861	75366861	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:75366861A>G	uc004aiz.1	+	c.631A>G	c.(631-633)ATG>GTG	p.M211V	TMC1_uc010moz.1_Missense_Mutation_p.M169V|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.M65V|TMC1_uc010mpa.1_Missense_Mutation_p.M65V	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	211	Helical; (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						Pancreas(75;173 1345 14232 34245 43413)								0.42953	219.482684	220.126763	64	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75366861	75366861	16514	9	A	G	G	G	104	8	TMC1	4	4
TMC1	117531	broad.mit.edu	37	9	75420388	75420388	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:75420388T>C	uc004aiz.1	+	c.1657T>C	c.(1657-1659)TGC>CGC	p.C553R	TMC1_uc010moz.1_Missense_Mutation_p.C511R|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.C407R|TMC1_uc010mpa.1_Missense_Mutation_p.C407R	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	553	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						Pancreas(75;173 1345 14232 34245 43413)								0.409231	418.235055	420.593289	133	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75420388	75420388	16514	9	T	C	C	C	819	63	TMC1	4	4
FOXB2	442425	broad.mit.edu	37	9	79635143	79635143	+	Silent	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79635143T>C	uc004ako.1	+	c.573T>C	c.(571-573)CCT>CCC	p.P191P		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	191					brain development|embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0														0.227273	11.860438	13.369939	5	17	KEEP	---	---	---	---	capture		Silent	SNP	79635143	79635143	6235	9	T	C	C	C	691	54	FOXB2	4	4
FLJ46321	389763	broad.mit.edu	37	9	84607206	84607206	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84607206T>A	uc004amn.2	+	c.1821T>A	c.(1819-1821)CAT>CAA	p.H607Q		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	607						integral to membrane					0														0.433071	170.91011	171.40509	55	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84607206	84607206	6174	9	T	A	A	A	634	49	FLJ46321	3	3
PTPRD	5789	broad.mit.edu	37	9	8521381	8521381	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8521381C>G	uc003zkk.2	-	c.857G>C	c.(856-858)AGA>ACA	p.R286T	PTPRD_uc003zkp.2_Missense_Mutation_p.R286T|PTPRD_uc003zkq.2_Missense_Mutation_p.R286T|PTPRD_uc003zkr.2_Missense_Mutation_p.R280T|PTPRD_uc003zks.2_Missense_Mutation_p.R276T|PTPRD_uc003zkl.2_Missense_Mutation_p.R286T|PTPRD_uc003zkm.2_Missense_Mutation_p.R273T|PTPRD_uc003zkn.2_Missense_Mutation_p.R286T|PTPRD_uc003zko.2_Missense_Mutation_p.R283T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	286	Extracellular (Potential).|Ig-like C2-type 3.				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)			0.431818	134.320699	134.680066	38	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8521381	8521381	13256	9	C	G	G	G	416	32	PTPRD	3	3
SYK	6850	broad.mit.edu	37	9	93637067	93637067	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:93637067G>T	uc004aqz.2	+	c.1117G>T	c.(1117-1119)GAA>TAA	p.E373*	SYK_uc004ara.2_Nonsense_Mutation_p.E350*|SYK_uc004arb.2_Nonsense_Mutation_p.E350*|SYK_uc004arc.2_Nonsense_Mutation_p.E373*|SYK_uc011ltr.1_Non-coding_Transcript|SYK_uc011lts.1_Non-coding_Transcript|SYK_uc011ltt.1_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	373	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(1)|skin(1)	2										618				0.359431	272.977912	277.874605	101	180	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	93637067	93637067	15959	9	G	T	T	T	533	41	SYK	5	2
IARS	3376	broad.mit.edu	37	9	95003138	95003138	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95003138C>T	uc004art.1	-	c.3283G>A	c.(3283-3285)GGT>AGT	p.G1095S	IARS_uc004ars.1_Missense_Mutation_p.G940S|IARS_uc004aru.3_Missense_Mutation_p.G1095S|IARS_uc010mqr.2_Missense_Mutation_p.G985S|IARS_uc010mqt.2_Missense_Mutation_p.G318S	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	1095					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)	1					L-Isoleucine(DB00167)									0.375	27.968651	28.298053	9	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95003138	95003138	7773	9	C	T	T	T	312	24	IARS	2	2
DMRT3	58524	broad.mit.edu	37	9	990207	990207	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:990207C>T	uc003zgw.1	+	c.621C>T	c.(619-621)GTC>GTT	p.V207V		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	207					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)										0.513889	112.275255	112.287387	37	35	KEEP	---	---	---	---	capture		Silent	SNP	990207	990207	4767	9	C	T	T	T	379	30	DMRT3	2	2
IRS4	8471	broad.mit.edu	37	X	107976561	107976561	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107976561G>T	uc004eoc.2	-	c.3014C>A	c.(3013-3015)ACA>AAA	p.T1005K		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1005						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|pancreas(1)	9														0.46798	298.410817	298.591703	95	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107976561	107976561	8146	23	G	T	T	T	624	48	IRS4	2	2
ALG13	79868	broad.mit.edu	37	X	110996020	110996020	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110996020A>T	uc011msy.1	+	c.2935A>T	c.(2935-2937)ACA>TCA	p.T979S	ALG13_uc011msx.1_Missense_Mutation_p.T796S|ALG13_uc011msz.1_Missense_Mutation_p.T901S|ALG13_uc011mta.1_Missense_Mutation_p.T796S|ALG13_uc011mtb.1_Missense_Mutation_p.T796S	ALG13		Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	979					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1														0.944444	60.344644	62.231837	17	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110996020	110996020	518	23	A	T	T	T	182	14	ALG13	3	3
KLHL13	90293	broad.mit.edu	37	X	117043468	117043468	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117043468C>T	uc011mtp.1	-	c.1168G>A	c.(1168-1170)GGA>AGA	p.G390R	KLHL13_uc004eqk.2_Missense_Mutation_p.G337R|KLHL13_uc004eql.2_Missense_Mutation_p.G388R|KLHL13_uc011mtn.1_Missense_Mutation_p.G228R|KLHL13_uc011mto.1_Missense_Mutation_p.G382R|KLHL13_uc004eqm.2_Missense_Mutation_p.G337R|KLHL13_uc011mtq.1_Missense_Mutation_p.G372R	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	388	Kelch 1.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)	1														0.463918	141.867764	141.977442	45	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117043468	117043468	8681	23	C	T	T	T	273	21	KLHL13	2	2
SMARCA1	6594	broad.mit.edu	37	X	128649712	128649712	+	Silent	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128649712C>T	uc011muk.1	-	c.582G>A	c.(580-582)TTG>TTA	p.L194L	SMARCA1_uc004eun.3_Silent_p.L194L|SMARCA1_uc004eup.3_Silent_p.L194L|SMARCA1_uc011mul.1_Silent_p.L194L	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	194					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of gene-specific transcription|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding|transcription regulator activity			ovary(3)|skin(1)	4														0.894309	356.32166	375.310451	110	13	KEEP	---	---	---	---	capture		Silent	SNP	128649712	128649712	15266	23	C	T	T	T	376	29	SMARCA1	2	2
IGSF1	3547	broad.mit.edu	37	X	130419770	130419770	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130419770G>T	uc004ewd.2	-	c.350C>A	c.(349-351)CCC>CAC	p.P117H	IGSF1_uc004ewe.3_Missense_Mutation_p.P106H|IGSF1_uc004ewf.2_Missense_Mutation_p.P97H|IGSF1_uc004ewg.2_Missense_Mutation_p.P117H	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	117	Ig-like C2-type 1.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.401575	143.579142	144.659956	51	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130419770	130419770	7897	23	G	T	T	T	559	43	IGSF1	2	2
PHF6	84295	broad.mit.edu	37	X	133559234	133559234	+	Silent	SNP	A	G	G			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:133559234A>G	uc004exj.2	+	c.972A>G	c.(970-972)CTA>CTG	p.L324L	PHF6_uc004exk.2_Silent_p.L324L|PHF6_uc011mvk.1_Silent_p.L290L	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	324	PHD-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					Colon(100;666 1493 6344 21231 35807)								0.951613	237.61334	243.333293	59	3	KEEP	---	---	---	---	capture		Silent	SNP	133559234	133559234	12261	23	A	G	G	G	197	16	PHF6	4	4
ZNF75D	7626	broad.mit.edu	37	X	134425434	134425434	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134425434C>A	uc004eyp.2	-	c.660G>T	c.(658-660)TGG>TGT	p.W220C	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	220					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.872727	151.159229	158.764655	48	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134425434	134425434	18732	23	C	A	A	A	390	30	ZNF75D	2	2
GPR112	139378	broad.mit.edu	37	X	135433701	135433701	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135433701G>T	uc004ezu.1	+	c.6822_splice	c.e7+1	p.S2274_splice	GPR112_uc010nsb.1_Splice_Site_SNP_p.S2069_splice|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576			G-protein coupled receptor 112						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.419355	43.270057	43.446017	13	18	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	135433701	135433701	6903	23	G	T	T	T	572	44	GPR112	5	2
SLITRK2	84631	broad.mit.edu	37	X	144906017	144906017	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144906017G>T	uc004fcd.2	+	c.2074G>T	c.(2074-2076)GTG>TTG	p.V692L	SLITRK2_uc010nsp.2_Missense_Mutation_p.V692L|SLITRK2_uc010nso.2_Missense_Mutation_p.V692L|SLITRK2_uc011mwq.1_Missense_Mutation_p.V692L|SLITRK2_uc011mwr.1_Missense_Mutation_p.V692L|SLITRK2_uc011mws.1_Missense_Mutation_p.V692L|SLITRK2_uc004fcg.2_Missense_Mutation_p.V692L|SLITRK2_uc011mwt.1_Missense_Mutation_p.V692L|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	692	Cytoplasmic (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.913978	286.718032	302.852874	85	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144906017	144906017	15241	23	G	T	T	T	624	48	SLITRK2	2	2
IL9R	3581	broad.mit.edu	37	X	155232673	155232673	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:155232673G>T	uc004fnv.1	+	c.131G>T	c.(130-132)GGG>GTG	p.G44V	IL9R_uc010nvn.2_Missense_Mutation_p.G23V|IL9R_uc004fnu.1_Missense_Mutation_p.G91V	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	44	Extracellular (Potential).				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.355263	228.514679	232.720932	81	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155232673	155232673	8009	23	G	T	T	T	559	43	IL9R	2	2
DMD	1756	broad.mit.edu	37	X	32867855	32867855	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32867855C>T	uc004dda.1	-	c.176G>A	c.(175-177)GGG>GAG	p.G59E	DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Missense_Mutation_p.G55E|DMD_uc004ddb.1_Missense_Mutation_p.G51E|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.G51E|DMD_uc010ngq.1_Non-coding_Transcript|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	59	CH 1.|Actin-binding.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.98	187.688427	189.937585	49	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32867855	32867855	4760	23	C	T	T	T	286	22	DMD	2	2
FAM47A	158724	broad.mit.edu	37	X	34148385	34148385	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34148385G>A	uc004ddg.2	-	c.2011C>T	c.(2011-2013)CAG>TAG	p.Q671*		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	671										ovary(4)|central_nervous_system(1)	5														0.883721	365.317275	383.996551	114	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34148385	34148385	5790	23	G	A	A	A	624	48	FAM47A	5	2
FAM47A	158724	broad.mit.edu	37	X	34148601	34148601	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34148601G>A	uc004ddg.2	-	c.1795C>T	c.(1795-1797)CTT>TTT	p.L599F		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	599										ovary(4)|central_nervous_system(1)	5														0.8	166.033589	171.054494	48	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34148601	34148601	5790	23	G	A	A	A	429	33	FAM47A	2	2
NLGN4X	57502	broad.mit.edu	37	X	5827225	5827225	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:5827225C>A	uc010ndi.2	-	c.792G>T	c.(790-792)CAG>CAT	p.Q264H	NLGN4X_uc004crp.2_Missense_Mutation_p.Q247H|NLGN4X_uc010ndh.2_Missense_Mutation_p.Q227H|NLGN4X_uc004crq.2_Missense_Mutation_p.Q227H|NLGN4X_uc004crr.2_Missense_Mutation_p.Q227H|NLGN4X_uc010ndj.2_Missense_Mutation_p.Q227H	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	227	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.875	180.837196	189.627276	56	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5827225	5827225	10867	23	C	A	A	A	415	32	NLGN4X	2	2
MED12	9968	broad.mit.edu	37	X	70345900	70345900	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70345900C>T	uc004dyy.2	+	c.2437C>T	c.(2437-2439)CAG>TAG	p.Q813*	MED12_uc011mpq.1_Nonsense_Mutation_p.Q813*|MED12_uc004dyz.2_Nonsense_Mutation_p.Q813*|MED12_uc004dza.2_Nonsense_Mutation_p.Q660*	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	813					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)													0.79845	307.050719	317.709751	103	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70345900	70345900	9817	23	C	T	T	T	325	25	MED12	5	2
HDAC8	55869	broad.mit.edu	37	X	71791953	71791953	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:71791953T>C	uc004eau.2	-	c.118A>G	c.(118-120)ATG>GTG	p.M40V	HDAC8_uc011mqf.1_5'UTR|HDAC8_uc011mqg.1_Missense_Mutation_p.M40V|HDAC8_uc011mqh.1_Missense_Mutation_p.M40V|HDAC8_uc010nlk.1_5'UTR|HDAC8_uc004eav.2_Missense_Mutation_p.M40V|HDAC8_uc004eaw.2_Non-coding_Transcript	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	40	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding				0	Renal(35;0.156)				Vorinostat(DB02546)					97				1	45.947233	45.946744	11	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71791953	71791953	7296	23	T	C	C	C	637	49	HDAC8	4	4
KIAA2022	340533	broad.mit.edu	37	X	73959987	73959987	+	Silent	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73959987G>T	uc004eby.2	-	c.4405C>A	c.(4405-4407)CGA>AGA	p.R1469R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1469					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.830769	192.353609	199.267239	54	11	KEEP	---	---	---	---	capture		Silent	SNP	73959987	73959987	8580	23	G	T	T	T	493	38	KIAA2022	1	1
PCDH11X	27328	broad.mit.edu	37	X	91134002	91134002	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91134002G>T	uc004efk.1	+	c.2763G>T	c.(2761-2763)TGG>TGT	p.W921C	PCDH11X_uc004efl.1_Missense_Mutation_p.W921C|PCDH11X_uc004efo.1_Missense_Mutation_p.W921C|PCDH11X_uc010nmv.1_Missense_Mutation_p.W921C|PCDH11X_uc004efm.1_Missense_Mutation_p.W921C|PCDH11X_uc004efn.1_Missense_Mutation_p.W921C|PCDH11X_uc004efh.1_Missense_Mutation_p.W921C|PCDH11X_uc004efj.1_Missense_Mutation_p.W921C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	921	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.472973	205.731408	205.826009	70	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91134002	91134002	11928	23	G	T	T	T	559	43	PCDH11X	2	2
PCDH11X	27328	broad.mit.edu	37	X	91873567	91873567	+	Silent	SNP	T	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91873567T>A	uc004efk.1	+	c.3672T>A	c.(3670-3672)CCT>CCA	p.P1224P	PCDH11X_uc004efl.1_Silent_p.P1214P|PCDH11X_uc004efo.1_Silent_p.P1187P|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.P1216P|PCDH11X_uc004efn.1_Silent_p.P1206P	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1224	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.906433	512.642272	541.037648	155	16	KEEP	---	---	---	---	capture		Silent	SNP	91873567	91873567	11928	23	T	A	A	A	691	54	PCDH11X	3	3
PCDH11X	27328	broad.mit.edu	37	X	91873596	91873596	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91873596G>T	uc004efk.1	+	c.3701G>T	c.(3700-3702)AGC>ATC	p.S1234I	PCDH11X_uc004efl.1_Missense_Mutation_p.S1224I|PCDH11X_uc004efo.1_Missense_Mutation_p.S1197I|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.S1226I|PCDH11X_uc004efn.1_Missense_Mutation_p.S1216I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1234	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.888889	417.977208	442.141437	144	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91873596	91873596	11928	23	G	T	T	T	442	34	PCDH11X	2	2
FAM133A	286499	broad.mit.edu	37	X	92965007	92965007	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:92965007G>A	uc004efr.1	+	c.589G>A	c.(589-591)GAA>AAA	p.E197K		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	197	Ser-rich.|Lys-rich.										0														0.958333	77.587807	80.258242	23	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92965007	92965007	5640	23	G	A	A	A	585	45	FAM133A	2	2
ADARB2	105	broad.mit.edu	37	10	1279783	1279783	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:1279783_1279783delG	uc009xhq.2	-	c.1366_1366delC	c.(1366-1368)CGGfs	p.R456fs		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	456	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)						191				0.41			50	73		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	1279783	1279783	284	10	G	-	-	-	493	38	ADARB2	5	5
ADAM8	101	broad.mit.edu	37	10	135086366	135086366	+	Frame_Shift_Del	DEL	T	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135086366_135086366delT	uc010quz.1	-	c.641_641delA	c.(640-642)CAGfs	p.Q214fs	ADAM8_uc009ybi.2_Frame_Shift_Del_p.Q214fs|ADAM8_uc010qva.1_Frame_Shift_Del_p.Q175fs|ADAM8_uc010qvb.1_Frame_Shift_Del_p.Q189fs|ADAM8_uc009ybj.1_Non-coding_Transcript	NM_001109	NP_001100	Q14C66	Q14C66_HUMAN	ADAM metallopeptidase domain 8 isoform 1	214					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)										0.58			15	11		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	135086366	135086366	253	10	T	-	-	-	715	55	ADAM8	5	5
LARP4B	23185	broad.mit.edu	37	10	858953	858961	+	In_Frame_Del	DEL	CCTCTGGTC	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:858953_858961delCCTCTGGTC	uc001ifs.1	-	c.2122_2130delGACCAGAGG	c.(2122-2130)GACCAGAGGdel	p.DQR708del		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	708_710							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3														0.36			37	66		---	---	---	---	capture_indel		In_Frame_Del	DEL	858953	858961	8954	10	CCTCTGGTC	-	-	-	337	26	LARP4B	5	5
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	Frame_Shift_Ins	INS	-	T	T	rs68192523	by1000genomes	TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102738795_102738796insT	uc001phk.2	-	c.629_630insA	c.(628-630)ACCfs	p.T210fs		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	210					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)									0.43			6	8		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	102738795	102738796	10041	11	-	T	T	T	600	47	MMP12	5	5
BRSK2	9024	broad.mit.edu	37	11	1467122	1467122	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1467122_1467122delC	uc001ltm.2	+	c.1349_1349delC	c.(1348-1350)GCCfs	p.A450fs	BRSK2_uc009ycv.1_Frame_Shift_Del_p.A404fs|BRSK2_uc001lth.1_Frame_Shift_Del_p.A404fs|BRSK2_uc001lti.2_Frame_Shift_Del_p.A404fs|BRSK2_uc001ltj.2_Frame_Shift_Del_p.A404fs|BRSK2_uc001ltk.2_Non-coding_Transcript|BRSK2_uc001ltl.2_Frame_Shift_Del_p.A404fs|BRSK2_uc001ltn.2_Non-coding_Transcript|BRSK2_uc010qwx.1_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	404					establishment of cell polarity|neuron differentiation|protein phosphorylation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)					p.A450D(RERFLCAD2-Tumor)	1394				0.45			39	48		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	1467122	1467122	1555	11	C	-	-	-	338	26	BRSK2	5	5
OR4X1	390113	broad.mit.edu	37	11	48285662	48285662	+	Frame_Shift_Del	DEL	T	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48285662_48285662delT	uc010rht.1	+	c.250_250delT	c.(250-252)TTTfs	p.F84fs		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2														0.41			45	64		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	48285662	48285662	11494	11	T	-	-	-	728	56	OR4X1	5	5
PCNXL3	399909	broad.mit.edu	37	11	65384435	65384435	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65384435_65384435delG	uc001oey.2	+	c.294_294delG	c.(292-294)ATGfs	p.M98fs	MAP3K11_uc001oew.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	98						integral to membrane					0														0.36			13	23		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	65384435	65384435	12013	11	G	-	-	-	611	47	PCNXL3	5	5
ITPR2	3709	broad.mit.edu	37	12	26714783	26714784	+	Frame_Shift_Ins	INS	-	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26714783_26714784insA	uc001rhg.2	-	c.4732_4733insT	c.(4732-4734)TGGfs	p.W1578fs		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1578	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.45			26	32		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	26714783	26714784	8225	12	-	A	A	A	273	21	ITPR2	5	5
ANO6	196527	broad.mit.edu	37	12	45797234	45797234	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45797234_45797234delG	uc010slf.1	+	c.1858_1858delG	c.(1858-1860)GGCfs	p.G620fs	ANO6_uc001roo.2_Frame_Shift_Del_p.G599fs|ANO6_uc010sld.1_Frame_Shift_Del_p.G599fs|ANO6_uc010sle.1_Frame_Shift_Del_p.G599fs|ANO6_uc010slg.1_Frame_Shift_Del_p.G581fs	NM_001142678	NP_001136150	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform b	599	Extracellular (Potential).				activation of blood coagulation via clotting cascade	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2														0.43			43	58		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	45797234	45797234	709	12	G	-	-	-	611	47	ANO6	5	5
DLST	1743	broad.mit.edu	37	14	75360126	75360126	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75360126_75360126delG	uc001xqv.2	+	c.671_671delG	c.(670-672)CGGfs	p.R224fs	DLST_uc001xqu.2_Frame_Shift_Del_p.R136fs|DLST_uc001xqt.2_Frame_Shift_Del_p.R140fs|DLST_uc010tuw.1_Frame_Shift_Del_p.R138fs|DLST_uc001xqs.2_Non-coding_Transcript|DLST_uc010tuv.1_Frame_Shift_Del_p.R224fs	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	224					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)										0.36			38	69		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	75360126	75360126	4749	14	G	-	-	-	507	39	DLST	5	5
RBBP6	5930	broad.mit.edu	37	16	24583448	24583448	+	Frame_Shift_Del	DEL	A	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24583448_24583448delA	uc002dmh.2	+	c.5061_5061delA	c.(5059-5061)ATAfs	p.I1687fs	RBBP6_uc002dmi.2_Frame_Shift_Del_p.I1653fs|RBBP6_uc010bxr.2_Frame_Shift_Del_p.I847fs|RBBP6_uc002dmk.2_Frame_Shift_Del_p.I1520fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1687					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)										0.33			45	90		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	24583448	24583448	13564	16	A	-	-	-	163	13	RBBP6	5	5
TP53	7157	broad.mit.edu	37	17	7577537	7577537	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577537_7577537delC	uc002gim.2	-	c.744_744delG	c.(742-744)CGGfs	p.R248fs	TP53_uc002gig.1_Frame_Shift_Del_p.R248fs|TP53_uc002gih.2_Frame_Shift_Del_p.R248fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R116fs|TP53_uc010cng.1_Frame_Shift_Del_p.R116fs|TP53_uc002gii.1_Frame_Shift_Del_p.R116fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R248fs|TP53_uc010cni.1_Frame_Shift_Del_p.R248fs|TP53_uc002gij.2_Frame_Shift_Del_p.R248fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.R155fs|TP53_uc002gio.2_Frame_Shift_Del_p.R116fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(9)|p.R248R(8)|p.0?(6)|p.N247_R248delNR(2)|p.M246_P250delMNRRP(2)|p.R248L(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R248C(1)|p.R249fs*14(1)|p.R249fs*15(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.62			30	18		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	7577537	7577537	16923	17	C	-	-	-	379	30	TP53	5	5
CARD14	79092	broad.mit.edu	37	17	78175564	78175564	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78175564_78175564delC	uc002jxw.1	+	c.1873_1873delC	c.(1873-1875)CCCfs	p.P625fs	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.2_Frame_Shift_Del_p.P625fs|CARD14_uc010wud.1_Intron	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	625	PDZ.			DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)							565				0.73			66	24		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	78175564	78175564	2765	17	C	-	-	-	338	26	CARD14	5	5
ZNF521	25925	broad.mit.edu	37	18	22804911	22804911	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22804911_22804911delG	uc002kvk.2	-	c.2971_2971delC	c.(2971-2973)CGGfs	p.R991fs	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Frame_Shift_Del_p.R991fs|ZNF521_uc002kvl.2_Frame_Shift_Del_p.R771fs	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	991					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.41			41	59		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	22804911	22804911	18559	18	G	-	-	-	506	39	ZNF521	5	5
TRAPPC6A	79090	broad.mit.edu	37	19	45667459	45667460	+	Frame_Shift_Ins	INS	-	T	T			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45667459_45667460insT	uc002pav.2	-	c.358_359insA	c.(358-360)ATGfs	p.M120fs	TRAPPC6A_uc002paw.2_Frame_Shift_Ins_p.M106fs	NM_024108	NP_077013	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	106				SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967).	vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding				0		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)										0.86			19	3		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	45667459	45667460	17007	19	-	T	T	T	104	8	TRAPPC6A	5	5
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	-	-	rs5742258		TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:278688_278690delCGG	uc002wdf.2	+	c.461_463delCGG	c.(460-465)CCGGCG>CCG	p.A158del	ZCCHC3_uc002wdg.2_Intron	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	158	Poly-Ala.						nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)											0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	278688	278690	18177	20	CGG	-	-	-	299	23	ZCCHC3	5	5
CRIPT	9419	broad.mit.edu	37	2	46846808	46846809	+	Frame_Shift_Ins	INS	-	A	A			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:46846808_46846809insA	uc002rve.2	+	c.125_126insA	c.(124-126)TCAfs	p.S42fs	PIGF_uc002rvc.2_5'Flank|PIGF_uc002rvd.2_5'Flank	NM_014171	NP_054890	Q9P021	CRIPT_HUMAN	postsynaptic protein CRIPT	42						cell junction|cytoplasm|dendritic spine					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)											0.30			14	32		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	46846808	46846809	4017	2	-	A	A	A	377	29	CRIPT	5	5
PCDHB15	56121	broad.mit.edu	37	5	140627001	140627002	+	Frame_Shift_Del	DEL	GC	-	-	rs17844634		TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140627001_140627002delGC	uc003lje.2	+	c.1855_1856delGC	c.(1855-1857)GCGfs	p.A619fs		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	619	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.40			32	49		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	140627001	140627002	11960	5	GC	-	-	-	546	42	PCDHB15	5	5
MARCH11	441061	broad.mit.edu	37	5	16067851	16067851	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16067851_16067851delC	uc003jfo.2	-	c.938_938delG	c.(937-939)CGAfs	p.R313fs	MARCH11_uc010itw.1_Frame_Shift_Del_p.R69fs	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	313						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0														0.38			15	24		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	16067851	16067851	9683	5	C	-	-	-	403	31	MARCH11	5	5
GPR98	84059	broad.mit.edu	37	5	90119264	90119264	+	Frame_Shift_Del	DEL	T	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:90119264_90119264delT	uc003kju.2	+	c.16219_16219delT	c.(16219-16221)TTTfs	p.F5407fs	GPR98_uc003kjt.2_Frame_Shift_Del_p.F3113fs|GPR98_uc003kjw.2_Frame_Shift_Del_p.F1068fs	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5407	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.41			40	57		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	90119264	90119264	6997	5	T	-	-	-	728	56	GPR98	5	5
SLC35F1	222553	broad.mit.edu	37	6	118598709	118598709	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:118598709_118598709delG	uc003pxx.3	+	c.847_847delG	c.(847-849)GGAfs	p.G283fs	SLC35F1_uc003pxy.1_Frame_Shift_Del_p.G88fs	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	283					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)										0.37			87	146		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	118598709	118598709	15085	6	G	-	-	-	455	35	SLC35F1	5	5
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143417404_143417405delCT	uc003wdf.2	+	c.1252_1253delCT	c.(1252-1254)CTCfs	p.L418fs	FAM115C_uc003wdg.2_Frame_Shift_Del_p.L137fs|FAM115C_uc011ktk.1_Frame_Shift_Del_p.L418fs|FAM115C_uc003wdh.2_Frame_Shift_Del_p.L418fs|FAM115C_uc011ktm.1_Frame_Shift_Del_p.L418fs|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|FAM115C_uc011ktt.1_Frame_Shift_Del_p.L254fs|FAM115C_uc003wdi.1_Frame_Shift_Del_p.L137fs	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN	hypothetical protein LOC285966 isoform A	418											0														0.67			4	2		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	143417404	143417405	5603	7	CT	-	-	-	364	28	FAM115C	5	5
PLEC	5339	broad.mit.edu	37	8	144991960	144991961	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144991960_144991961delGC	uc003zaf.1	-	c.12439_12440delGC	c.(12439-12441)GCCfs	p.A4147fs	PLEC_uc003zab.1_Frame_Shift_Del_p.A4010fs|PLEC_uc003zac.1_Frame_Shift_Del_p.A4014fs|PLEC_uc003zad.2_Frame_Shift_Del_p.A4010fs|PLEC_uc003zae.1_Frame_Shift_Del_p.A3978fs|PLEC_uc003zag.1_Frame_Shift_Del_p.A3988fs|PLEC_uc003zah.2_Frame_Shift_Del_p.A3996fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.A4037fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4147	Globular 2.|Plectin 24.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.36			30	54		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	144991960	144991961	12478	8	GC	-	-	-	546	42	PLEC	5	5
ALG13	79868	broad.mit.edu	37	X	110987997	110987999	+	In_Frame_Del	DEL	CCT	-	-	rs13440710		TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110987997_110987999delCCT	uc011msy.1	+	c.2797_2799delCCT	c.(2797-2799)CCTdel	p.P945del	ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_In_Frame_Del_p.P867del|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_Intron	ALG13		Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	945	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1														0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	110987997	110987999	518	23	CCT	-	-	-	234	18	ALG13	5	5
SPANXN2	494119	broad.mit.edu	37	X	142795501	142795501	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4397-01	TCGA-05-4397-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142795501_142795501delC	uc004fbz.2	-	c.177_177delG	c.(175-177)AAGfs	p.K59fs		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	59										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.85			161	28		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	142795501	142795501	15499	23	C	-	-	-	363	28	SPANXN2	5	5
