Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
MGMT	4255	broad.mit.edu	36	10	131396175	131396175	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:131396175C>T	uc001lkh.1	+	c.152C>T	c.(151-153)GCG>GTG	p.A51V		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	51										ovary(1)	1		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)												0.860215	250.840249	262.486196	80	13	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	Missense_Mutation	SNP	131396175	131396175	9947	10	C	T	T	27	27	MGMT	T	1	1
MBL2	4153	broad.mit.edu	36	10	54201397	54201397	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:54201397G>T	uc001jjt.1	-	c.5C>A	c.(4-6)TCC>TAC	p.S2Y		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	2					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1														0.647059	29.696571	30.012759	11	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54201397	54201397	9738	10	G	T	T	41	41	MBL2	T	3	3
PCDH15	65217	broad.mit.edu	36	10	55509120	55509120	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:55509120C>G	uc001jju.1	-	c.2068G>C	c.(2068-2070)GCT>CCT	p.A690P	PCDH15_uc001jjv.1_Missense_Mutation_p.A668P|PCDH15_uc001jjw.2_Missense_Mutation_p.A690P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	690	Cadherin 6.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.806723	350.257059	360.700109	96	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55509120	55509120	11931	10	C	G	G	28	28	PCDH15	G	3	3
NFRKB	4798	broad.mit.edu	36	11	129250550	129250550	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129250550C>G	uc001qfg.1	-	c.1841G>C	c.(1840-1842)CGA>CCA	p.R614P	NFRKB_uc009zcr.1_5'Flank|NFRKB_uc001qfh.1_Missense_Mutation_p.R612P|NFRKB_uc001qfi.1_Missense_Mutation_p.R589P	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	589					inflammatory response|transcription from RNA polymerase II promoter	nucleus	DNA binding|protease binding|specific RNA polymerase II transcription factor activity			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)												0.5	6.412826	6.412826	3	3	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	Missense_Mutation	SNP	129250550	129250550	10784	11	C	G	G	31	31	NFRKB	G	3	3
PDE3B	5140	broad.mit.edu	36	11	14809871	14809871	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:14809871G>A	uc001mln.1	+	c.2066G>A	c.(2065-2067)GGA>GAA	p.G689E		NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	689					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of cAMP-mediated signaling|negative regulation of cell adhesion mediated by integrin|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0														0.523077	104.148378	104.17821	34	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14809871	14809871	12059	11	G	A	A	41	41	PDE3B	A	2	2
OR5AS1	219447	broad.mit.edu	36	11	55554666	55554666	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0747-01	TCGA-06-0747-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55554666T>G	uc001nif.1	+	c.196T>G	c.(196-198)TTA>GTA	p.L66V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)	4	Esophageal squamous(21;0.00693)													0.453704	147.064567	147.26563	49	59	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55554666	55554666	11556	11	T	G	G	56	56	OR5AS1	G	4	4
OR5M9	390162	broad.mit.edu	36	11	55986549	55986549	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55986549G>C	uc001niv.1	-	c.905C>G	c.(904-906)GCA>GGA	p.A302G		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.39267	238.183795	240.110067	75	116	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55986549	55986549	11587	11	G	C	C	46	46	OR5M9	C	3	3
PCNXL3	399909	broad.mit.edu	36	11	65159411	65159411	+	Silent	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65159411G>A	uc001oey.2	+	c.5100G>A	c.(5098-5100)GCG>GCA	p.A1700A	PCNXL3_uc001oez.2_Silent_p.A587A|SIPA1_uc009yqo.1_5'Flank|SIPA1_uc001ofb.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1700						integral to membrane					0														0.465116	60.798271	60.843534	20	23	GG		KEEP	---	---	---	---	capture			Silent	SNP	65159411	65159411	12013	11	G	A	A	38	38	PCNXL3	A	1	1
FAT3	120114	broad.mit.edu	36	11	92173694	92173694	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:92173694C>A	uc001pdj.2	+	c.7867C>A	c.(7867-7869)CAA>AAA	p.Q2623K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2623	Cadherin 24.|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)			0.428571	7.421564	7.453098	3	4	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	92173694	92173694	5927	11	C	A	A	29	29	FAT3	A	3	3
EPS8	2059	broad.mit.edu	36	12	15665617	15665617	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:15665617G>C	uc009zif.1	-	c.2370C>G	c.(2368-2370)AGC>AGG	p.S790R	EPS8_uc001rdb.1_Missense_Mutation_p.S790R|EPS8_uc009zig.1_Missense_Mutation_p.S530R	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	790					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)	2		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)												0.333333	9.795998	10.376666	7	14	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	Missense_Mutation	SNP	15665617	15665617	5387	12	G	C	C	34	34	EPS8	C	3	3
CACNA1C	775	broad.mit.edu	36	12	2586466	2586466	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2586466C>T	uc009zdu.1	+	c.3325C>T	c.(3325-3327)CGC>TGC	p.R1109C	CACNA1C_uc009zdv.1_Missense_Mutation_p.R1086C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1089C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qka.1_Missense_Mutation_p.R624C|CACNA1C_uc001qki.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R825C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R825C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1109	Extracellular (Potential).|III.|Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11					Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.528571	117.676555	117.726377	37	33	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Missense_Mutation	SNP	2586466	2586466	2656	12	C	T	T	23	23	CACNA1C	T	1	1
ABCD2	225	broad.mit.edu	36	12	38287735	38287735	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:38287735G>A	uc001rmb.2	-	c.1169C>T	c.(1168-1170)ACC>ATC	p.T390I		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	390	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.447619	134.420192	134.669231	47	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38287735	38287735	62	12	G	A	A	44	44	ABCD2	A	2	2
PCID2	55795	broad.mit.edu	36	13	112902814	112902814	+	Silent	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:112902814G>A	uc001vtc.1	-	c.54C>T	c.(52-54)GAC>GAT	p.D18D	PCID2_uc001vtd.1_5'UTR|PCID2_uc001vte.1_5'UTR|PCID2_uc001vtf.1_5'UTR|PCID2_uc001vtg.1_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	18					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of gene-specific transcription|positive regulation of mitotic cell cycle spindle assembly checkpoint|regulation of mRNA stability|spleen development		protein binding|transcription activator activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)												0.415584	90.283811	90.763355	32	45	GG		KEEP	---	---	---	---	capture	all cancers(43;0.104)		Silent	SNP	112902814	112902814	11999	13	G	A	A	48	48	PCID2	A	2	2
PCDH20	64881	broad.mit.edu	36	13	60883827	60883827	+	Silent	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:60883827G>A	uc001vid.2	-	c.2406C>T	c.(2404-2406)GGC>GGT	p.G802G	PCDH20_uc001vie.1_Silent_p.G775G	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	775	Cadherin 6.|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)												0.430894	145.343389	145.857762	53	70	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.000118)	Silent	SNP	60883827	60883827	11935	13	G	A	A	46	46	PCDH20	A	2	2
AHNAK2	113146	broad.mit.edu	36	14	104475889	104475889	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104475889C>T	uc010axc.1	-	c.16944G>A	c.(16942-16944)TGG>TGA	p.W5648*	AHNAK2_uc001ypx.2_Nonsense_Mutation_p.W5548*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5648						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.581818	97.902158	98.222322	32	23	CC		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Nonsense_Mutation	SNP	104475889	104475889	418	14	C	T	T	26	26	AHNAK2	T	5	2
CEP152	22995	broad.mit.edu	36	15	46841952	46841952	+	Silent	SNP	T	G	G			TCGA-06-0747-01	TCGA-06-0747-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46841952T>G	uc001zwz.1	-	c.2490A>C	c.(2488-2490)ATA>ATC	p.I830I	CEP152_uc001zwy.1_Silent_p.I830I|CEP152_uc001zxa.1_Silent_p.I737I	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	830					G2/M transition of mitotic cell cycle	cytosol|microtubule organizing center				lung(2)	2		all_lung(180;0.0428)												0.45614	237.629422	237.91592	78	93	TT		KEEP	---	---	---	---	capture		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	Silent	SNP	46841952	46841952	3381	15	T	G	G	53	53	CEP152	G	4	4
MYH11	4629	broad.mit.edu	36	16	15754865	15754865	+	Missense_Mutation	SNP	A	C	C			TCGA-06-0747-01	TCGA-06-0747-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:15754865A>C	uc002ddx.1	-	c.1772T>G	c.(1771-1773)GTG>GGG	p.V591G	MYH11_uc002ddv.1_Missense_Mutation_p.V591G|MYH11_uc002ddw.1_Missense_Mutation_p.V584G|MYH11_uc002ddy.1_Missense_Mutation_p.V584G|MYH11_uc010bvg.1_Missense_Mutation_p.V416G|MYH11_uc002dea.1_Missense_Mutation_p.V290G	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	584	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(4)|skin(2)|lung(1)	7										1257				0.25	9.149844	13.313829	16	48	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15754865	15754865	10426	16	A	C	C	6	6	MYH11	C	4	4
HYDIN	54768	broad.mit.edu	36	16	69470865	69470865	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69470865C>T	uc002ezr.1	-	c.10390G>A	c.(10390-10392)GTG>ATG	p.V3464M		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3465										ovary(1)	1		Ovarian(137;0.0654)												0.13242	35.626801	64.371971	29	190	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69470865	69470865	7767	16	C	T	T	19	19	HYDIN	T	1	1
EPN2	22905	broad.mit.edu	36	17	19127608	19127608	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0747-01	TCGA-06-0747-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19127608T>C	uc002gvd.2	+	c.583T>C	c.(583-585)TCC>CCC	p.S195P	EPN2_uc010cql.1_Intron|EPN2_uc002gve.2_Missense_Mutation_p.S195P|EPN2_uc002gvf.2_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.S195P|EPN2_uc002gvh.1_Missense_Mutation_p.S195P|EPN2_uc002gvc.2_Missense_Mutation_p.S195P	NM_014964	NP_001096134	O95208	EPN2_HUMAN	epsin 2 isoform b	195					endocytosis		lipid binding				0	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)													0.230769	9.826993	12.574332	9	30	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19127608	19127608	5379	17	T	C	C	54	54	EPN2	C	4	4
SLC4A1	6521	broad.mit.edu	36	17	39686024	39686024	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:39686024C>T	uc002igf.2	-	c.2299G>A	c.(2299-2301)GCT>ACT	p.A767T		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	767	Helical; (Potential).|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)												0.144737	29.798421	48.225593	22	130	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.115)	Missense_Mutation	SNP	39686024	39686024	15147	17	C	T	T	27	27	SLC4A1	T	1	1
FBF1	85302	broad.mit.edu	36	17	71425852	71425852	+	Silent	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71425852G>A	uc002jqc.2	-	c.2187C>T	c.(2185-2187)GCC>GCT	p.A729A	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc002jqd.1_Silent_p.A730A|FBF1_uc002jqb.2_Non-coding_Transcript|FBF1_uc010dgr.1_Silent_p.A40A	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	729											0														0.487179	56.04557	56.050013	19	20	GG		KEEP	---	---	---	---	capture			Silent	SNP	71425852	71425852	5931	17	G	A	A	47	47	FBF1	A	2	2
AANAT	15	broad.mit.edu	36	17	71977407	71977407	+	Silent	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71977407C>T	uc002jro.1	+	c.384C>T	c.(382-384)CGC>CGT	p.R128R		NM_001088	NP_001079	Q16613	SNAT_HUMAN	arylalkylamine N-acetyltransferase	128	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity				0														0.363636	21.920176	22.269052	8	14	CC		KEEP	---	---	---	---	capture			Silent	SNP	71977407	71977407	19	17	C	T	T	27	27	AANAT	T	1	1
LAMA3	3909	broad.mit.edu	36	18	19592464	19592464	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:19592464G>A	uc002kuq.1	+	c.1054G>A	c.(1054-1056)GAG>AAG	p.E352K	LAMA3_uc010dlv.1_Missense_Mutation_p.E352K|LAMA3_uc002kur.1_Missense_Mutation_p.E352K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	352	Laminin EGF-like 1.|Domain V.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.412698	72.43094	72.851901	26	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19592464	19592464	8930	18	G	A	A	37	37	LAMA3	A	1	1
EPB41L3	23136	broad.mit.edu	36	18	5479008	5479008	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:5479008G>A	uc002kmt.1	-	c.175C>T	c.(175-177)CGG>TGG	p.R59W	EPB41L3_uc002kmu.1_Missense_Mutation_p.R59W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.R81W|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	59					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.414634	96.033359	96.555376	34	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5479008	5479008	5347	18	G	A	A	38	38	EPB41L3	A	1	1
BEST2	54831	broad.mit.edu	36	19	12725093	12725093	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12725093C>T	uc002mux.1	+	c.172C>T	c.(172-174)CAG>TAG	p.Q58*		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	58	Extracellular (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2														0.28125	124.94724	133.22022	54	138	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	12725093	12725093	1428	19	C	T	T	25	25	BEST2	T	5	2
OR7A10	390892	broad.mit.edu	36	19	14812796	14812796	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14812796C>A	uc002mzx.1	-	c.894G>T	c.(892-894)AAG>AAT	p.K298N		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)													0.236686	95.208909	105.923643	40	129	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14812796	14812796	11625	19	C	A	A	24	24	OR7A10	A	3	3
MAP1S	55201	broad.mit.edu	36	19	17699511	17699511	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17699511G>A	uc002nhe.1	+	c.2318G>A	c.(2317-2319)CGG>CAG	p.R773Q	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.R21Q	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	773	Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1														0.28	34.123298	36.303838	14	36	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17699511	17699511	9617	19	G	A	A	39	39	MAP1S	A	1	1
CEACAM5	1048	broad.mit.edu	36	19	46910774	46910774	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:46910774G>A	uc002ork.2	+	c.469G>A	c.(469-471)GTG>ATG	p.V157M	CEACAM5_uc002orl.1_Missense_Mutation_p.V157M|CEACAM5_uc010ehz.1_Missense_Mutation_p.V157M|CEACAM5_uc002orj.1_Missense_Mutation_p.V157M	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	157	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane					0														0.427907	266.846605	267.823718	92	123	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	Missense_Mutation	SNP	46910774	46910774	3328	19	G	A	A	40	40	CEACAM5	A	1	1
FUT1	2523	broad.mit.edu	36	19	53945640	53945640	+	Silent	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53945640G>A	uc002pkk.1	-	c.711C>T	c.(709-711)GGC>GGT	p.G237G	FUT1_uc010emg.1_Silent_p.G237G	NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	237	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.459716	251.158436	251.422204	97	114	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	Silent	SNP	53945640	53945640	6352	19	G	A	A	38	38	FUT1	A	1	1
NLRP12	91662	broad.mit.edu	36	19	59006288	59006288	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59006288C>T	uc002qcj.2	-	c.437G>A	c.(436-438)CGC>CAC	p.R146H	NLRP12_uc010eqw.1_5'Flank|NLRP12_uc002qch.2_Missense_Mutation_p.R146H|NLRP12_uc002qci.2_Missense_Mutation_p.R146H|NLRP12_uc002qck.2_Non-coding_Transcript|NLRP12_uc010eqx.1_Missense_Mutation_p.R146H	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	146					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)													0.452632	244.080017	244.441751	86	104	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.026)	Missense_Mutation	SNP	59006288	59006288	10877	19	C	T	T	27	27	NLRP12	T	1	1
EPN1	29924	broad.mit.edu	36	19	60898011	60898011	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60898011G>C	uc002qlx.1	+	c.1630G>C	c.(1630-1632)GCA>CCA	p.A544P	EPN1_uc002qlv.1_Missense_Mutation_p.A432P|EPN1_uc002qlw.1_Missense_Mutation_p.A458P|EPN1_uc010etd.1_Missense_Mutation_p.A457P	NM_013333	NP_037465	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform c	458	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)												0.294118	7.067872	7.786928	5	12	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.112)	Missense_Mutation	SNP	60898011	60898011	5378	19	G	C	C	46	46	EPN1	C	3	3
ATP1A2	477	broad.mit.edu	36	1	158372780	158372780	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:158372780G>C	uc001fvc.1	+	c.2559G>C	c.(2557-2559)CAG>CAC	p.Q853H	ATP1A2_uc001fvb.1_Missense_Mutation_p.Q853H|ATP1A2_uc001fvd.1_Missense_Mutation_p.Q589H	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	853	Helical; (Potential).				ATP biosynthetic process	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|central_nervous_system(2)	4	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)													0.381356	142.2492	143.705152	45	73	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		Missense_Mutation	SNP	158372780	158372780	1148	1	G	C	C	33	33	ATP1A2	C	3	3
DUSP27	92235	broad.mit.edu	36	1	165330740	165330740	+	Silent	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:165330740G>A	uc001geb.1	+	c.30G>A	c.(28-30)GAG>GAA	p.E10E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	10					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.448276	38.670035	38.737806	13	16	GG		KEEP	---	---	---	---	capture			Silent	SNP	165330740	165330740	5009	1	G	A	A	34	34	DUSP27	A	2	2
DUSP27	92235	broad.mit.edu	36	1	165361806	165361806	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:165361806C>T	uc001geb.1	+	c.814C>T	c.(814-816)CGG>TGG	p.R272W		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	272					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.39823	128.253523	129.27649	45	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165361806	165361806	5009	1	C	T	T	27	27	DUSP27	T	1	1
KIF17	57576	broad.mit.edu	36	1	20903659	20903659	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20903659G>A	uc001bdr.2	-	c.991C>T	c.(991-993)CGG>TGG	p.R331W	KIF17_uc001bds.2_Missense_Mutation_p.R331W	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	331					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)	3		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)												0.351145	121.407302	123.968348	46	85	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	Missense_Mutation	SNP	20903659	20903659	8590	1	G	A	A	39	39	KIF17	A	1	1
NLRP3	114548	broad.mit.edu	36	1	245654158	245654158	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245654158G>T	uc001icr.1	+	c.790G>T	c.(790-792)GTG>TTG	p.V264L	NLRP3_uc001ics.1_Missense_Mutation_p.V264L|NLRP3_uc001ict.1_Missense_Mutation_p.V262L|NLRP3_uc001icu.1_Missense_Mutation_p.V264L|NLRP3_uc001icw.1_Missense_Mutation_p.V264L|NLRP3_uc001icv.1_Missense_Mutation_p.V264L	NM_001079821	NP_004886	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	264	NACHT.				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)								412				0.483871	211.396184	211.425742	75	80	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		Missense_Mutation	SNP	245654158	245654158	10881	1	G	T	T	44	44	NLRP3	T	3	3
ELTD1	64123	broad.mit.edu	36	1	79184621	79184621	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:79184621C>G	uc001diq.2	-	c.251G>C	c.(250-252)TGT>TCT	p.C84S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	84	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)	1														0.5	73.281497	73.281497	21	21	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	Missense_Mutation	SNP	79184621	79184621	5276	1	C	G	G	17	17	ELTD1	G	3	3
ABCA4	24	broad.mit.edu	36	1	94315955	94315955	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0747-01	TCGA-06-0747-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:94315955A>T	uc001dqh.1	-	c.1433T>A	c.(1432-1434)ATC>AAC	p.I478N		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	478	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|central_nervous_system(2)|breast(1)	7		all_lung(203;0.000757)|Lung NSC(277;0.00335)												0.483395	393.407907	393.472612	131	140	AA		KEEP	---	---	---	---	capture		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	Missense_Mutation	SNP	94315955	94315955	35	1	A	T	T	12	12	ABCA4	T	4	4
DLGAP4	22839	broad.mit.edu	36	20	34494073	34494073	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:34494073G>A	uc002xff.1	+	c.539G>A	c.(538-540)CGG>CAG	p.R180Q		NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	180					cell-cell signaling	membrane	protein binding			ovary(1)|skin(1)	2	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)												0.336634	94.934208	97.311124	34	67	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34494073	34494073	4742	20	G	A	A	39	39	DLGAP4	A	1	1
NFATC2	4773	broad.mit.edu	36	20	49566774	49566774	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49566774G>A	uc002xwd.1	-	c.1288C>T	c.(1288-1290)CGA>TGA	p.R430*	NFATC2_uc002xwc.1_Nonsense_Mutation_p.R430*|NFATC2_uc002xwe.1_Nonsense_Mutation_p.R410*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	430	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(2)	2	Hepatocellular(150;0.248)													0.223958	103.922973	117.372496	43	149	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49566774	49566774	10762	20	G	A	A	39	39	NFATC2	A	5	1
C20orf196	149840	broad.mit.edu	36	20	5791987	5791987	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:5791987G>T	uc002wmf.1	+	c.496G>T	c.(496-498)GAC>TAC	p.D166Y		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	hypothetical protein LOC149840	166											0														0.28866	128.528507	136.295307	56	138	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5791987	5791987	2179	20	G	T	T	41	41	C20orf196	T	3	3
COL20A1	57642	broad.mit.edu	36	20	61413794	61413794	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61413794G>A	uc002yep.1	+	c.1745G>A	c.(1744-1746)AGG>AAG	p.R582K	COL20A1_uc002yeq.1_Non-coding_Transcript	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	582	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity				0	all_cancers(38;1.39e-10)													0.261905	27.404022	29.559764	11	31	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61413794	61413794	3817	20	G	A	A	35	35	COL20A1	A	2	2
KRTAP10-11	386678	broad.mit.edu	36	21	44890837	44890837	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44890837G>A	uc002zfr.2	+	c.34G>A	c.(34-36)GCT>ACT	p.A12T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	12						keratin filament				ovary(1)	1														0.473214	155.103582	155.169647	53	59	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44890837	44890837	8822	21	G	A	A	38	38	KRTAP10-11	A	1	1
SLC19A1	6573	broad.mit.edu	36	21	45775239	45775239	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:45775239C>T	uc002zhl.1	-	c.1024G>A	c.(1024-1026)GTC>ATC	p.V342I	SLC19A1_uc010gpy.1_Missense_Mutation_p.V342I|SLC19A1_uc010gpz.1_Missense_Mutation_p.V221I|SLC19A1_uc002zhm.1_Missense_Mutation_p.V342I	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	342	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0														0.384615	40.107423	40.564986	15	24	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Missense_Mutation	SNP	45775239	45775239	14924	21	C	T	T	19	19	SLC19A1	T	1	1
CCT8L2	150160	broad.mit.edu	36	22	15453274	15453274	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15453274C>T	uc002zlp.1	-	c.167G>A	c.(166-168)CGG>CAG	p.R56Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	56					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.412429	217.159189	218.338855	73	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15453274	15453274	3088	22	C	T	T	23	23	CCT8L2	T	1	1
GNB1L	54584	broad.mit.edu	36	22	18179872	18179872	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:18179872C>T	uc002zqe.1	-	c.353G>A	c.(352-354)AGC>AAC	p.S118N	GNB1L_uc002zqd.1_5'UTR|GNB1L_uc002zqf.1_Missense_Mutation_p.S118N	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	118					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane				breast(1)	1	Colorectal(54;0.0993)													0.584615	113.047267	113.451581	38	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18179872	18179872	6785	22	C	T	T	28	28	GNB1L	T	2	2
BPIL2	254240	broad.mit.edu	36	22	31163790	31163790	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:31163790C>T	uc003amn.1	-	c.704G>A	c.(703-705)AGT>AAT	p.S235N	BPIL2_uc010gwo.1_Missense_Mutation_p.S49N	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	bactericidal/permeability-increasing	235						extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)	1														0.846154	74.966278	77.94447	22	4	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31163790	31163790	1520	22	C	T	T	20	20	BPIL2	T	2	2
SLC9A4	389015	broad.mit.edu	36	2	102461888	102461888	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102461888G>A	uc002tbz.2	+	c.415G>A	c.(415-417)GTT>ATT	p.V139I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	139	Helical; Name=D/M4; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)	1														0.355705	143.323961	146.060899	53	96	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102461888	102461888	15213	2	G	A	A	40	40	SLC9A4	A	1	1
ANAPC1	64682	broad.mit.edu	36	2	112258448	112258448	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:112258448C>T	uc002thi.1	-	c.4918G>A	c.(4918-4920)GGC>AGC	p.G1640S		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1640					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|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|cytosol|nucleoplasm					0														0.191781	29.506094	35.985809	14	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112258448	112258448	601	2	C	T	T	22	22	ANAPC1	T	2	2
TTN	7273	broad.mit.edu	36	2	179250775	179250775	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179250775A>G	uc002umr.1	-	c.30377T>C	c.(30376-30378)GTT>GCT	p.V10126A	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6787A|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11053										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										8722				0.422727	307.145575	308.28985	93	127	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179250775	179250775	17290	2	A	G	G	2	2	TTN	G	4	4
CRYBA2	1412	broad.mit.edu	36	2	219565118	219565118	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0747-01	TCGA-06-0747-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:219565118T>G	uc002vjj.1	-	c.253A>C	c.(253-255)AGC>CGC	p.S85R	CRYBA2_uc002vjk.1_Missense_Mutation_p.S85R	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	85	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens				0		Renal(207;0.0474)												0.333333	6.424033	6.644429	3	6	TT		KEEP	---	---	---	---	capture		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Missense_Mutation	SNP	219565118	219565118	4047	2	T	G	G	55	55	CRYBA2	G	4	4
ALPI	248	broad.mit.edu	36	2	233031258	233031258	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:233031258C>T	uc002vst.2	+	c.1079C>T	c.(1078-1080)GCG>GTG	p.A360V	ALPI_uc002vsu.2_Missense_Mutation_p.A271V	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	360					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)												0.406977	95.714445	96.36225	35	51	CC		KEEP	---	---	---	---	capture		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Missense_Mutation	SNP	233031258	233031258	546	2	C	T	T	27	27	ALPI	T	1	1
PDCD1	5133	broad.mit.edu	36	2	242449606	242449606	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:242449606G>A	uc002wcq.2	-	c.58C>T	c.(58-60)CGG>TGG	p.R20W	PDCD1_uc010fzt.1_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	20					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)								259				0.454545	14.97416	14.99388	5	6	GG		KEEP	---	---	---	---	capture		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	Missense_Mutation	SNP	242449606	242449606	12036	2	G	A	A	38	38	PDCD1	A	1	1
ATP2B2	491	broad.mit.edu	36	3	10388514	10388514	+	Silent	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:10388514G>A	uc003bvt.1	-	c.1638C>T	c.(1636-1638)AGC>AGT	p.S546S	ATP2B2_uc003bvv.1_Silent_p.S501S|ATP2B2_uc003bvw.1_Silent_p.S501S|ATP2B2_uc010hdo.1_Silent_p.S251S|ATP2B2_uc003bvu.1_Silent_p.S501S	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	546	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|central_nervous_system(1)	4						Ovarian(125;1619 1709 15675 19819 38835)								0.447059	112.440062	112.647317	38	47	GG		KEEP	---	---	---	---	capture			Silent	SNP	10388514	10388514	1159	3	G	A	A	38	38	ATP2B2	A	1	1
MYLK	4638	broad.mit.edu	36	3	124911307	124911307	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:124911307G>C	uc003ego.1	-	c.1928C>G	c.(1927-1929)ACT>AGT	p.T643S	MYLK_uc003egp.1_Missense_Mutation_p.T574S|MYLK_uc003egq.1_Missense_Mutation_p.T643S|MYLK_uc003egr.1_Missense_Mutation_p.T574S|MYLK_uc003egs.1_Missense_Mutation_p.T467S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	643	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)								766				0.433993	859.045526	861.345733	263	343	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0736)	Missense_Mutation	SNP	124911307	124911307	10451	3	G	C	C	36	36	MYLK	C	3	3
TRIM42	287015	broad.mit.edu	36	3	141879780	141879780	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:141879780G>A	uc003eto.1	+	c.19G>A	c.(19-21)GTT>ATT	p.V7I		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	7	Cys-rich.					intracellular	zinc ion binding			lung(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)|skin(1)	6										261				0.45481	468.496385	469.1004	156	187	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141879780	141879780	17061	3	G	A	A	40	40	TRIM42	A	1	1
ZIC4	84107	broad.mit.edu	36	3	148596755	148596755	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:148596755C>T	uc003ewd.1	-	c.262G>A	c.(262-264)GCC>ACC	p.A88T	ZIC4_uc003ewc.1_Missense_Mutation_p.A18T	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	88	Poly-Ala.					nucleus	DNA binding|zinc ion binding				0														0.4375	56.971305	57.133527	21	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	148596755	148596755	18272	3	C	T	T	27	27	ZIC4	T	1	1
VPS8	23355	broad.mit.edu	36	3	186054654	186054654	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:186054654G>A	uc003fpb.1	+	c.1028G>A	c.(1027-1029)CGG>CAG	p.R343Q	VPS8_uc010hyd.1_Missense_Mutation_p.R343Q	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	345							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)													0.477612	103.499813	103.528752	32	35	GG		KEEP	---	---	---	---	capture	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		Missense_Mutation	SNP	186054654	186054654	17785	3	G	A	A	39	39	VPS8	A	1	1
LRRC3B	116135	broad.mit.edu	36	3	26726741	26726741	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:26726741G>A	uc003cdp.1	+	c.574G>A	c.(574-576)GCT>ACT	p.A192T	LRRC3B_uc003cdq.1_Missense_Mutation_p.A192T|LRRC3B_uc010hfi.1_Missense_Mutation_p.A192T	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	192	LRRCT.					integral to membrane				pancreas(2)|ovary(1)	3														0.444444	57.893344	58.014379	20	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	26726741	26726741	9371	3	G	A	A	38	38	LRRC3B	A	1	1
MST1R	4486	broad.mit.edu	36	3	49915198	49915198	+	Silent	SNP	A	G	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49915198A>G	uc003cxy.2	-	c.849T>C	c.(847-849)CTT>CTC	p.L283L		NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	283	Extracellular (Potential).|Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|protein phosphorylation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6										205				0.490291	335.776618	335.793097	101	105	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	Silent	SNP	49915198	49915198	10284	3	A	G	G	13	13	MST1R	G	4	4
ITIH4	3700	broad.mit.edu	36	3	52826083	52826083	+	Silent	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52826083C>T	uc003dfz.1	-	c.2328G>A	c.(2326-2328)GAG>GAA	p.E776E	ITIH4_uc003dfx.1_Silent_p.E490E|ITIH4_uc003dfy.1_Silent_p.E571E	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	776					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2														0.440217	241.944424	242.518266	81	103	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	Silent	SNP	52826083	52826083	8210	3	C	T	T	32	32	ITIH4	T	2	2
ARL6	84100	broad.mit.edu	36	3	98989536	98989536	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:98989536G>A	uc003drv.1	+	c.362G>A	c.(361-363)CGT>CAT	p.R121H	ARL6_uc003dru.1_Missense_Mutation_p.R121H|ARL6_uc010hoy.1_Missense_Mutation_p.R121H|ARL6_uc003drw.2_Non-coding_Transcript	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	121					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception	cilium axoneme|cilium membrane|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding				0		Lung NSC(201;0.0193)|Prostate(884;0.174)												0.6	68.981921	69.288226	21	14	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	Missense_Mutation	SNP	98989536	98989536	959	3	G	A	A	40	40	ARL6	A	1	1
OR5K1	26339	broad.mit.edu	36	3	99671857	99671857	+	Silent	SNP	A	G	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99671857A>G	uc003dsm.1	+	c.747A>G	c.(745-747)TCA>TCG	p.S249S		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	249	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.507692	202.14461	202.151255	66	64	AA		KEEP	---	---	---	---	capture			Silent	SNP	99671857	99671857	11576	3	A	G	G	8	8	OR5K1	G	4	4
ST3GAL6	10402	broad.mit.edu	36	3	99989880	99989880	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:99989880G>C	uc010hpd.1	+	c.798G>C	c.(796-798)AAG>AAC	p.K266N	ST3GAL6_uc003dsy.1_Missense_Mutation_p.K127N|ST3GAL6_uc003dsz.1_Missense_Mutation_p.K213N|ST3GAL6_uc003dta.1_Missense_Mutation_p.K95N|ST3GAL6_uc003dtb.1_Missense_Mutation_p.K69N|ST3GAL6_uc003dtc.1_Missense_Mutation_p.K213N	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	213	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1														0.295238	89.983443	93.922042	31	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99989880	99989880	15737	3	G	C	C	33	33	ST3GAL6	C	3	3
TLR6	10333	broad.mit.edu	36	4	38507183	38507183	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38507183C>T	uc003gtm.2	-	c.307G>A	c.(307-309)GAA>AAA	p.E103K	TLR6_uc010ifg.1_Missense_Mutation_p.E103K|TLR6_uc010ifh.1_Missense_Mutation_p.E103K	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	103	LRR 3.|Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2														0.380952	94.577342	95.622485	32	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38507183	38507183	16485	4	C	T	T	32	32	TLR6	T	2	2
PJA2	9867	broad.mit.edu	36	5	108708392	108708392	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:108708392C>A	uc003kos.2	-	c.1792G>T	c.(1792-1794)GCA>TCA	p.A598S		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	598						cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|zinc ion binding			ovary(1)	1		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)												0.356589	128.907846	131.247602	46	83	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	Missense_Mutation	SNP	108708392	108708392	12386	5	C	A	A	25	25	PJA2	A	3	3
HCN1	348980	broad.mit.edu	36	5	45298066	45298066	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0747-01	TCGA-06-0747-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:45298066T>A	uc003jok.1	-	c.2387A>T	c.(2386-2388)GAG>GTG	p.E796V		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	796	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.407407	126.181569	126.989778	44	64	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45298066	45298066	7278	5	T	A	A	54	54	HCN1	A	4	4
SAMD5	389432	broad.mit.edu	36	6	147871912	147871912	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:147871912G>C	uc003qmc.1	+	c.155G>C	c.(154-156)CGC>CCC	p.R52P		NM_001030060	NP_001025231	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	52	SAM.										0		Ovarian(120;0.0907)												0.454545	8.146925	8.169291	5	6	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)	Missense_Mutation	SNP	147871912	147871912	14303	6	G	C	C	38	38	SAMD5	C	3	3
PRSS16	10279	broad.mit.edu	36	6	27328700	27328700	+	Silent	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:27328700C>T	uc003nja.1	+	c.1143C>T	c.(1141-1143)TTC>TTT	p.F381F	PRSS16_uc003njb.1_Silent_p.F124F|PRSS16_uc010jqq.1_Silent_p.F158F|PRSS16_uc010jqr.1_Silent_p.F132F|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc003njd.1_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16	381					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)	4						NSCLC(178;1118 2105 17078 23587 44429)								0.435345	298.741705	299.586402	101	131	CC		KEEP	---	---	---	---	capture			Silent	SNP	27328700	27328700	13066	6	C	T	T	31	31	PRSS16	T	1	1
UHRF1BP1	54887	broad.mit.edu	36	6	34946647	34946647	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34946647C>T	uc003oju.2	+	c.3757C>T	c.(3757-3759)CAC>TAC	p.H1253Y	UHRF1BP1_uc010jvm.1_Non-coding_Transcript|UHRF1BP1_uc010jvn.1_Non-coding_Transcript|UHRF1BP1_uc010jvo.1_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	1253										ovary(3)	3														0.442478	143.777433	144.111073	50	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34946647	34946647	17526	6	C	T	T	21	21	UHRF1BP1	T	2	2
EEF1A1	1915	broad.mit.edu	36	6	74284348	74284348	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74284348G>A	uc003phi.1	-	c.1295C>T	c.(1294-1296)ACA>ATA	p.T432I	EEF1A1_uc003phd.1_Missense_Mutation_p.T157I|EEF1A1_uc003phe.1_Missense_Mutation_p.T422I|EEF1A1_uc003phf.1_Missense_Mutation_p.T425I|EEF1A1_uc003phg.1_3'UTR|EEF1A1_uc003phh.1_Missense_Mutation_p.T278I|EEF1A1_uc003phj.1_Missense_Mutation_p.T432I|EEF1A1_uc003phk.1_Missense_Mutation_p.T432I|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	432						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0												OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.280899	61.933295	65.776226	25	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74284348	74284348	5110	6	G	A	A	48	48	EEF1A1	A	2	2
TMEM30A	55754	broad.mit.edu	36	6	76025258	76025258	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:76025258G>C	uc003phw.1	-	c.850C>G	c.(850-852)CCA>GCA	p.P284A	TMEM30A_uc003phx.1_Missense_Mutation_p.P248A	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	transmembrane protein 30A isoform 1	284						integral to membrane					0														0.393443	78.292354	78.896918	24	37	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76025258	76025258	16692	6	G	C	C	41	41	TMEM30A	C	3	3
CDHR3	222256	broad.mit.edu	36	7	105458507	105458507	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:105458507G>A	uc003vdl.2	+	c.2338G>A	c.(2338-2340)GAA>AAA	p.E780K	CDHR3_uc003vdk.1_3'UTR|CDHR3_uc003vdm.2_Missense_Mutation_p.E767K|CDHR3_uc003vdn.1_3'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256	780	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.25	6.502593	7.704959	5	15	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	105458507	105458507	3249	7	G	A	A	33	33	CDHR3	A	2	2
GPR85	54329	broad.mit.edu	36	7	112512007	112512007	+	Silent	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:112512007C>T	uc010ljv.1	-	c.6G>A	c.(4-6)GCG>GCA	p.A2A	GPR85_uc003vgp.1_Silent_p.A2A|GPR85_uc010ljw.1_Silent_p.A2A|GPR85_uc003vgq.2_Silent_p.A2A|GPR85_uc010ljx.1_Silent_p.A2A	NM_018970	NP_061843	P60893	GPR85_HUMAN	G protein-coupled receptor 85	2	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.301887	43.785671	45.639676	16	37	CC		KEEP	---	---	---	---	capture			Silent	SNP	112512007	112512007	6990	7	C	T	T	31	31	GPR85	T	1	1
DENND2A	27147	broad.mit.edu	36	7	139913521	139913521	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0747-01	TCGA-06-0747-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139913521T>C	uc010lnj.1	-	c.1613A>G	c.(1612-1614)AAC>AGC	p.N538S	DENND2A_uc010lnk.1_Missense_Mutation_p.N538S|DENND2A_uc003vvw.1_Missense_Mutation_p.N538S|DENND2A_uc003vvx.2_Missense_Mutation_p.N538S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	538										ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.234568	53.28881	58.505393	19	62	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139913521	139913521	4608	7	T	C	C	60	60	DENND2A	C	4	4
GBX1	2636	broad.mit.edu	36	7	150476857	150476857	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0747-01	TCGA-06-0747-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150476857A>T	uc010lpz.1	-	c.844T>A	c.(844-846)TGC>AGC	p.C282S		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	282	Homeobox.				regulation of transcription, DNA-dependent	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.314433	167.726009	173.658754	61	133	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150476857	150476857	6546	7	A	T	T	5	5	GBX1	T	4	4
EIF2C2	27161	broad.mit.edu	36	8	141639689	141639689	+	Silent	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:141639689C>T	uc003yvn.1	-	c.621G>A	c.(619-621)CGG>CGA	p.R207R	EIF2C2_uc010men.1_Silent_p.R130R|EIF2C2_uc010meo.1_Silent_p.R207R	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	eukaryotic translation initiation factor 2C, 2	207					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-microRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)												0.358209	126.56379	128.935304	48	86	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.158)		Silent	SNP	141639689	141639689	5195	8	C	T	T	26	26	EIF2C2	T	2	2
RPS20	6224	broad.mit.edu	36	8	57148341	57148341	+	Silent	SNP	A	T	T			TCGA-06-0747-01	TCGA-06-0747-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:57148341A>T	uc003xsm.1	-	c.222T>A	c.(220-222)TCT>TCA	p.S74S	RPS20_uc003xsn.1_Silent_p.S74S	NM_001023	NP_001014	P60866	RS20_HUMAN	ribosomal protein S20	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)												0.49359	238.173943	238.179408	77	79	AA		KEEP	---	---	---	---	capture	Epithelial(17;0.00117)|all cancers(17;0.00879)		Silent	SNP	57148341	57148341	14112	8	A	T	T	15	15	RPS20	T	4	4
KIAA0368	23392	broad.mit.edu	36	9	113227907	113227907	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:113227907C>T	uc004bfe.1	-	c.1607G>A	c.(1606-1608)GGT>GAT	p.G536D	KIAA0368_uc010muc.1_Missense_Mutation_p.G358D	NM_001080398	NP_001073867			KIAA0368 protein												0														0.452632	131.914229	132.099875	43	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113227907	113227907	8478	9	C	T	T	18	18	KIAA0368	T	2	2
CDK5RAP2	55755	broad.mit.edu	36	9	122196661	122196661	+	Missense_Mutation	SNP	A	C	C			TCGA-06-0747-01	TCGA-06-0747-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:122196661A>C	uc004bkf.1	-	c.5528T>G	c.(5527-5529)ATG>AGG	p.M1843R	CDK5RAP2_uc004bkg.1_Missense_Mutation_p.M1764R|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.M1613R|CDK5RAP2_uc010mvi.1_Missense_Mutation_p.M852R|CDK5RAP2_uc004bke.1_Missense_Mutation_p.M1128R	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1843	Interaction with PCNT and AKAP9.				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														0.414062	177.768694	178.58962	53	75	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122196661	122196661	3275	9	A	C	C	8	8	CDK5RAP2	C	4	4
OR1J1	347168	broad.mit.edu	36	9	124279566	124279566	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0747-01	TCGA-06-0747-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124279566G>A	uc004bmk.1	-	c.461C>T	c.(460-462)GCG>GTG	p.A154V	OR1J2_uc004bmj.1_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1														0.409091	76.417792	76.892511	27	39	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124279566	124279566	11365	9	G	A	A	38	38	OR1J1	A	1	1
IFNA10	3446	broad.mit.edu	36	9	21196995	21196995	+	Silent	SNP	A	G	G			TCGA-06-0747-01	TCGA-06-0747-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21196995A>G	uc003zoq.1	-	c.102T>C	c.(100-102)AAT>AAC	p.N34N	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	interferon, alpha 10	34					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0														0.790123	230.84915	237.164998	64	17	AA		KEEP	---	---	---	---	capture		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	Silent	SNP	21196995	21196995	7833	9	A	G	G	16	16	IFNA10	G	4	4
RBM3	5935	broad.mit.edu	36	X	48319872	48319872	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0747-01	TCGA-06-0747-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48319872T>G	uc004dkf.1	+	c.349T>G	c.(349-351)TAT>GAT	p.Y117D	RBM3_uc004dkd.1_Non-coding_Transcript|RBM3_uc004dkg.2_Missense_Mutation_p.Y117D	NM_006743	NP_006734	P98179	RBM3_HUMAN	RNA binding motif protein 3	117	Gly-rich.				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.266667	7.285937	8.030263	4	11	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48319872	48319872	13591	23	T	G	G	57	57	RBM3	G	4	4
PCDH11Y	83259	broad.mit.edu	36	Y	5665524	5665524	+	Silent	SNP	C	A	A			TCGA-06-0747-01	TCGA-06-0747-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrY:5665524C>A	uc004fqo.1	+	c.3564C>A	c.(3562-3564)CTC>CTA	p.L1188L		NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	1188	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.91791	382.100273	405.906834	123	11	CC		KEEP	---	---	---	---	capture			Silent	SNP	5665524	5665524	11929	24	C	A	A	32	32	PCDH11Y	A	3	3
EIF3J	8669	broad.mit.edu	36	15	42616823	42616824	+	Frame_Shift_Ins	INS	-	T	T			TCGA-06-0747-01	TCGA-06-0747-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42616823_42616824insT	uc001ztv.1	+	c.53_54insT	c.(52-54)GCTfs	p.A18fs	EIF3J_uc001ztw.1_Frame_Shift_Ins_p.A18fs	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	18	Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)										0.33			3	6				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	42616823	42616824	5211	15	-	T	T	28	28	EIF3J	T	5	5
GPR88	54112	broad.mit.edu	36	1	100778194	100778197	+	Frame_Shift_Del	DEL	GTTG	-	-			TCGA-06-0747-01	TCGA-06-0747-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100778194_100778197delGTTG	uc001dth.1	+	c.1084_1087delGTTG	c.(1084-1089)GTTGCCfs	p.V362fs	GPR88_uc009wef.1_Frame_Shift_Del_p.V362fs	NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN	G-protein coupled receptor 88	362_363	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)										0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	100778194	100778197	6992	1	GTTG	-	-	40	40	GPR88	-	5	5
GNPDA1	10007	broad.mit.edu	36	5	141366020	141366022	+	In_Frame_Del	DEL	GAA	-	-			TCGA-06-0747-01	TCGA-06-0747-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141366020_141366022delGAA	uc003lmf.2	-	c.280_282delTTC	c.(280-282)TTCdel	p.F94del	GNPDA1_uc003lmg.2_In_Frame_Del_p.F94del|GNPDA1_uc010jgh.1_In_Frame_Del_p.F94del|GNPDA1_uc003lmh.2_In_Frame_Del_p.F60del	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	94					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.35			59	108				---	---	---	---	capture_indel			In_Frame_Del	DEL	141366020	141366022	6811	5	GAA	-	-	45	45	GNPDA1	-	5	5
ARFGEF1	10565	broad.mit.edu	36	8	68302878	68302881	+	Frame_Shift_Del	DEL	TAAT	-	-			TCGA-06-0747-01	TCGA-06-0747-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68302878_68302881delTAAT	uc003xxo.1	-	c.3462_3465delATTA	c.(3460-3465)GAATTAfs	p.E1154fs	ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.E608fs|ARFGEF1_uc003xxn.1_Frame_Shift_Del_p.E137fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1154_1155					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)							932				0.39			28	44				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	68302878	68302881	863	8	TAAT	-	-	57	57	ARFGEF1	-	5	5
