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
PTEN	5728	broad.mit.edu	36	10	89682882	89682882	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89682882G>A	uc001kfb.1	+	c.386G>A	c.(385-387)GGA>GAA	p.G129E		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	129	Phosphatase tensin-type.		G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K128_R130del(3)|p.Y27_N212>Y(2)|p.G129V(1)|p.K128fs*47(1)|p.G129E(1)|p.A121_F145del(1)|p.G127fs*5(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						31	p.KGR128del(A2780-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.616541	266.871333	268.453129	82	51	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	Missense_Mutation	SNP	89682882	89682882	13192	10	G	A	A	41	41	PTEN	A	2	2
PIH1D2	120379	broad.mit.edu	36	11	111449030	111449030	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:111449030G>A	uc001pmq.2	-	c.79C>T	c.(79-81)CCT>TCT	p.P27S	PIH1D2_uc009yyl.1_Missense_Mutation_p.P27S|PIH1D2_uc001pmp.2_Missense_Mutation_p.P27S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.2_5'Flank|C11orf57_uc001pmt.2_5'Flank|C11orf57_uc001pmr.2_5'Flank|C11orf57_uc001pmv.2_5'Flank|C11orf57_uc001pms.2_5'Flank	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2 isoform 1	27										ovary(1)	1		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)												0.58	190.858435	191.415571	58	42	GG		KEEP	---	---	---	---	capture		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	Missense_Mutation	SNP	111449030	111449030	12331	11	G	A	A	43	43	PIH1D2	A	2	2
ST14	6768	broad.mit.edu	36	11	129569308	129569308	+	Missense_Mutation	SNP	C	A	A			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129569308C>A	uc001qfw.1	+	c.930C>A	c.(928-930)AAC>AAA	p.N310K		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14	310	Extracellular (Potential).|CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)			Urokinase(DB00013)									0.300971	277.165033	288.091711	93	216	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Missense_Mutation	SNP	129569308	129569308	15729	11	C	A	A	19	19	ST14	A	3	3
PAMR1	25891	broad.mit.edu	36	11	35410622	35410622	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:35410622G>A	uc001mwf.1	-	c.2072C>T	c.(2071-2073)CCG>CTG	p.P691L	PAMR1_uc001mwg.1_Missense_Mutation_p.P674L	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	674	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2														0.316176	117.094647	121.172065	43	93	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	35410622	35410622	11830	11	G	A	A	39	39	PAMR1	A	1	1
ALX4	60529	broad.mit.edu	36	11	44288151	44288151	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:44288151G>A	uc001myb.1	-	c.38C>T	c.(37-39)CCG>CTG	p.P13L		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	13					hair follicle development		transcription regulator activity				0														0.384615	14.572017	14.723712	5	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44288151	44288151	561	11	G	A	A	39	39	ALX4	A	1	1
UBQLN3	50613	broad.mit.edu	36	11	5485594	5485594	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5485594G>A	uc001may.1	-	c.1771C>T	c.(1771-1773)CTT>TTT	p.L591F	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank|UBQLN3_uc009yen.1_Missense_Mutation_p.L591F	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	591										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)				Ovarian(72;684 1260 12332 41642 52180)								0.219388	108.310059	122.53453	43	153	GG		KEEP	---	---	---	---	capture		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	5485594	5485594	17456	11	G	A	A	35	35	UBQLN3	A	2	2
CCDC63	160762	broad.mit.edu	36	12	109821242	109821242	+	Silent	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109821242C>T	uc001trv.1	+	c.1272C>T	c.(1270-1272)GAC>GAT	p.D424D	CCDC63_uc001trw.1_Silent_p.D339D	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	424										ovary(1)|pancreas(1)	2														0.311258	123.967186	128.759086	47	104	CC		KEEP	---	---	---	---	capture			Silent	SNP	109821242	109821242	2957	12	C	T	T	19	19	CCDC63	T	1	1
KRT8	3856	broad.mit.edu	36	12	51578830	51578830	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51578830C>T	uc009zmk.1	-	c.1186G>A	c.(1186-1188)GCG>ACG	p.A396T	KRT8_uc001sbd.1_Missense_Mutation_p.A368T|KRT8_uc009zmj.1_Intron|KRT8_uc009zml.1_Missense_Mutation_p.A368T|KRT8_uc009zmm.1_Missense_Mutation_p.A368T	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8	368	Necessary for interaction with PNN.|Rod.|Coil 2.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.305755	222.478375	231.829923	85	193	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.108)	Missense_Mutation	SNP	51578830	51578830	8808	12	C	T	T	26	26	KRT8	T	2	2
RPS26	6231	broad.mit.edu	36	12	54722613	54722613	+	Silent	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:54722613C>T	uc001sjf.1	+	c.141C>T	c.(139-141)GCC>GCT	p.A47A		NM_001093731	NP_001087200	P62854	RS26_HUMAN	hypothetical protein LOC728937	47					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)	1														0.219178	72.319222	82.933464	32	114	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(18;0.123)		Silent	SNP	54722613	54722613	14117	12	C	T	T	23	23	RPS26	T	1	1
TSPAN8	7103	broad.mit.edu	36	12	69809393	69809393	+	Silent	SNP	T	C	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:69809393T>C	uc009zrt.1	-	c.645A>G	c.(643-645)GGA>GGG	p.G215G	TSPAN8_uc001swk.1_Silent_p.G215G|TSPAN8_uc001swj.1_Silent_p.G215G	NM_004616	NP_004607	P19075	TSN8_HUMAN	transmembrane 4 superfamily member 3	215	Helical; (Potential).				protein glycosylation	integral to membrane|lysosome	signal transducer activity			lung(1)|central_nervous_system(1)	2										6				0.26875	132.353616	140.076669	43	117	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		Silent	SNP	69809393	69809393	17204	12	T	C	C	58	58	TSPAN8	C	4	4
USP12	219333	broad.mit.edu	36	13	26562021	26562021	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:26562021G>A	uc001uqy.1	-	c.733C>T	c.(733-735)CGG>TGG	p.R245W		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin-specific protease 12-like 1	245					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0		Lung SC(185;0.0161)				Ovarian(37;808 911 7590 44442 44991)								0.304348	94.885118	98.81099	35	80	GG		KEEP	---	---	---	---	capture		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	Missense_Mutation	SNP	26562021	26562021	17605	13	G	A	A	40	40	USP12	A	1	1
SOHLH2	54937	broad.mit.edu	36	13	35646890	35646890	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:35646890C>T	uc001uvj.1	-	c.758G>A	c.(757-759)CGG>CAG	p.R253Q		NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	253	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)												0.385714	152.205751	153.810853	54	86	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	Missense_Mutation	SNP	35646890	35646890	15424	13	C	T	T	23	23	SOHLH2	T	1	1
PCDH17	27253	broad.mit.edu	36	13	57106730	57106730	+	Silent	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:57106730G>A	uc001vhq.1	+	c.2049G>A	c.(2047-2049)TCG>TCA	p.S683S	PCDH17_uc010aec.1_Silent_p.S683S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	683	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)				Melanoma(72;952 1291 1619 12849 33676)								0.418773	361.494018	363.077071	116	161	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;1.06e-05)	Silent	SNP	57106730	57106730	11932	13	G	A	A	39	39	PCDH17	A	1	1
AHNAK2	113146	broad.mit.edu	36	14	104488254	104488254	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104488254C>T	uc010axc.1	-	c.4579G>A	c.(4579-4581)GTG>ATG	p.V1527M	AHNAK2_uc001ypx.2_Missense_Mutation_p.V1427M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1527						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.350318	143.090661	146.187499	55	102	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)		Missense_Mutation	SNP	104488254	104488254	418	14	C	T	T	19	19	AHNAK2	T	1	1
AHNAK2	113146	broad.mit.edu	36	14	104489244	104489244	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104489244C>T	uc010axc.1	-	c.3589G>A	c.(3589-3591)GTG>ATG	p.V1197M	AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1197						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.264706	148.720522	160.632037	63	175	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)		Missense_Mutation	SNP	104489244	104489244	418	14	C	T	T	19	19	AHNAK2	T	1	1
MAP1A	4130	broad.mit.edu	36	15	41606190	41606190	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41606190C>T	uc001zrt.1	+	c.5227C>T	c.(5227-5229)CGG>TGG	p.R1743W		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1743						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)	8		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)			Estramustine(DB01196)									0.343284	184.539163	188.888042	69	132	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;3.05e-06)	Missense_Mutation	SNP	41606190	41606190	9610	15	C	T	T	27	27	MAP1A	T	1	1
BNC1	646	broad.mit.edu	36	15	81726707	81726707	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:81726707C>T	uc002bjt.1	-	c.320G>A	c.(319-321)CGC>CAC	p.R107H		NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	107					epidermis development|positive regulation of cell proliferation|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.407216	229.189797	230.647856	79	115	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81726707	81726707	1499	15	C	T	T	27	27	BNC1	T	1	1
PCSK6	5046	broad.mit.edu	36	15	99747244	99747244	+	Missense_Mutation	SNP	A	G	G			TCGA-32-5222-01	TCGA-32-5222-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99747244A>G	uc002bxa.1	-	c.1258T>C	c.(1258-1260)TCA>CCA	p.S420P	PCSK6_uc010bpd.1_Missense_Mutation_p.S290P|PCSK6_uc002bwy.1_Missense_Mutation_p.S420P|PCSK6_uc010bpe.1_Missense_Mutation_p.S420P|PCSK6_uc002bxb.1_Missense_Mutation_p.S420P|PCSK6_uc002bxc.1_Missense_Mutation_p.S420P|PCSK6_uc002bxd.1_Missense_Mutation_p.S420P|PCSK6_uc002bxe.1_Missense_Mutation_p.S420P|PCSK6_uc002bxg.1_Missense_Mutation_p.S420P	NM_138320	NP_612193	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	420	Catalytic.	Charge relay system (By similarity).			glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)													0.319149	187.235095	192.698548	60	128	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Missense_Mutation	SNP	99747244	99747244	12025	15	A	G	G	11	11	PCSK6	G	4	4
TBL3	10607	broad.mit.edu	36	16	1965083	1965083	+	Silent	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1965083C>T	uc002cnu.1	+	c.618C>T	c.(616-618)GAC>GAT	p.D206D	TBL3_uc002cnv.1_Silent_p.D92D|TBL3_uc010bsb.1_Missense_Mutation_p.R21W|TBL3_uc010bsc.1_Silent_p.D92D	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	206	WD 4.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						Melanoma(118;616 1651 35077 38081 48633)								0.431193	134.922437	135.368534	47	62	CC		KEEP	---	---	---	---	capture			Silent	SNP	1965083	1965083	16169	16	C	T	T	19	19	TBL3	T	1	1
CCDC113	29070	broad.mit.edu	36	16	56845445	56845445	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:56845445C>T	uc002ene.1	+	c.271C>T	c.(271-273)CGT>TGT	p.R91C		NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	91						protein complex					0														0.325843	157.628245	162.398665	58	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56845445	56845445	2870	16	C	T	T	23	23	CCDC113	T	1	1
FLCN	201163	broad.mit.edu	36	17	17060530	17060530	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:17060530C>T	uc002gra.2	-	c.1189G>A	c.(1189-1191)GTG>ATG	p.V397M	PLD6_uc010cpn.1_Non-coding_Transcript	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	397					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3										287				0.367347	51.837066	52.595115	18	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17060530	17060530	6159	17	C	T	T	19	19	FLCN	T	1	1
C17orf57	124989	broad.mit.edu	36	17	42826418	42826418	+	Silent	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:42826418C>T	uc002iln.1	+	c.1755C>T	c.(1753-1755)TTC>TTT	p.F585F	C17orf57_uc002ilm.2_Silent_p.F489F	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	585							calcium ion binding			breast(1)|central_nervous_system(1)	2														0.301115	221.650623	231.166479	81	188	CC		KEEP	---	---	---	---	capture			Silent	SNP	42826418	42826418	1922	17	C	T	T	29	29	C17orf57	T	2	2
CDH7	1005	broad.mit.edu	36	18	61698804	61698804	+	Silent	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:61698804G>A	uc002ljz.1	+	c.2052G>A	c.(2050-2052)AGG>AGA	p.R684R	CDH7_uc002lkb.1_Silent_p.R684R	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	684	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.228986	195.241025	218.484882	79	266	GG		KEEP	---	---	---	---	capture			Silent	SNP	61698804	61698804	3244	18	G	A	A	43	43	CDH7	A	2	2
CCDC124	115098	broad.mit.edu	36	19	17915397	17915397	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17915397C>T	uc002nhs.1	+	c.545C>T	c.(544-546)CCG>CTG	p.P182L		NM_138442	NP_612451	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	182							DNA binding				0														0.280899	65.339227	69.178467	25	64	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17915397	17915397	2880	19	C	T	T	23	23	CCDC124	T	1	1
PRODH2	58510	broad.mit.edu	36	19	40995008	40995008	+	Silent	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40995008C>T	uc002obx.1	-	c.606G>A	c.(604-606)GCG>GCA	p.A202A		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	202					glutamate biosynthetic process|oxidation-reduction process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)													0.210728	115.794341	136.002615	55	206	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Silent	SNP	40995008	40995008	12992	19	C	T	T	19	19	PRODH2	T	1	1
RYR1	6261	broad.mit.edu	36	19	43683441	43683441	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43683441G>A	uc002oit.1	+	c.7585G>A	c.(7585-7587)GAC>AAC	p.D2529N	RYR1_uc002oiu.1_Missense_Mutation_p.D2529N|RYR1_uc002oiv.1_Non-coding_Transcript	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2529	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)				Dantrolene(DB01219)									0.295082	41.918301	44.215546	18	43	GG		KEEP	---	---	---	---	capture	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Missense_Mutation	SNP	43683441	43683441	14248	19	G	A	A	37	37	RYR1	A	1	1
LYPD4	147719	broad.mit.edu	36	19	47033881	47033881	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47033881G>A	uc002orp.1	-	c.506C>T	c.(505-507)ACG>ATG	p.T169M	LYPD4_uc002orq.1_Missense_Mutation_p.T134M	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	169	UPAR/Ly6.					anchored to membrane|plasma membrane				ovary(1)	1														0.269663	60.962052	65.221775	24	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47033881	47033881	9489	19	G	A	A	40	40	LYPD4	A	1	1
PHLDB3	653583	broad.mit.edu	36	19	48700057	48700057	+	Missense_Mutation	SNP	T	G	G			TCGA-32-5222-01	TCGA-32-5222-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48700057T>G	uc002own.2	-	c.54A>C	c.(52-54)GAA>GAC	p.E18D	PHLDB3_uc002owo.2_Missense_Mutation_p.E18D	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B,	18											0		Prostate(69;0.0153)												0.181818	22.817241	28.04886	10	45	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48700057	48700057	12277	19	T	G	G	52	52	PHLDB3	G	4	4
KLK15	55554	broad.mit.edu	36	19	56022112	56022112	+	Silent	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56022112G>A	uc002ptl.1	-	c.315C>T	c.(313-315)AAC>AAT	p.N105N	KLK15_uc002ptn.1_Silent_p.N105N|KLK15_uc002ptm.1_Silent_p.N105N|KLK15_uc002pto.1_Silent_p.N104N|KLK15_uc010eod.1_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)				Pancreas(140;10 2513 7143 9246)								0.318725	210.221444	217.546972	80	171	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	Silent	SNP	56022112	56022112	8717	19	G	A	A	40	40	KLK15	A	1	1
SIGLEC6	946	broad.mit.edu	36	19	56725926	56725926	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56725926G>A	uc002pwy.2	-	c.527C>T	c.(526-528)ACG>ATG	p.T176M	SIGLEC6_uc002pwz.2_Missense_Mutation_p.T176M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.T176M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.T154M|SIGLEC6_uc010epa.1_Missense_Mutation_p.T165M|SIGLEC6_uc010epb.1_Missense_Mutation_p.T129M	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	176	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)												0.272085	192.452203	205.707783	77	206	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	Missense_Mutation	SNP	56725926	56725926	14807	19	G	A	A	40	40	SIGLEC6	A	1	1
LILRB1	10859	broad.mit.edu	36	19	59834868	59834868	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59834868G>A	uc002qgm.1	+	c.176G>A	c.(175-177)CGT>CAT	p.R59H	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.1_Missense_Mutation_p.R59H|LILRB1_uc002qgk.1_Missense_Mutation_p.R59H|LILRB1_uc002qgl.1_Missense_Mutation_p.R59H|LILRB1_uc010erq.1_Missense_Mutation_p.R59H|LILRB1_uc010err.1_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	59	Ig-like C2-type 1.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)	2														0.257294	234.377284	254.528316	97	280	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0188)	Missense_Mutation	SNP	59834868	59834868	9116	19	G	A	A	40	40	LILRB1	A	1	1
FLG2	388698	broad.mit.edu	36	1	150592553	150592553	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150592553G>A	uc001ezw.2	-	c.4333C>T	c.(4333-4335)CAA>TAA	p.Q1445*		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1445							calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.272101	573.94564	614.764192	237	634	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Nonsense_Mutation	SNP	150592553	150592553	6161	1	G	A	A	48	48	FLG2	A	5	2
NPR1	4881	broad.mit.edu	36	1	151918882	151918882	+	Missense_Mutation	SNP	T	C	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151918882T>C	uc001fcs.2	+	c.674T>C	c.(673-675)CTC>CCC	p.L225P		NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	225	Extracellular (Potential).				diuresis|intracellular signal transduction|natriuresis|negative regulation of angiogenesis|negative regulation of cell growth|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	integral to plasma membrane	ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|breast(1)	6	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)				Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	Pancreas(141;1349 1870 15144 15830 40702)				382				0.533333	8.873391	8.865733	8	7	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.151)		Missense_Mutation	SNP	151918882	151918882	10999	1	T	C	C	54	54	NPR1	C	4	4
SPTA1	6708	broad.mit.edu	36	1	156899267	156899267	+	Missense_Mutation	SNP	C	G	G			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:156899267C>G	uc001fst.1	-	c.2313G>C	c.(2311-2313)TTG>TTC	p.L771F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	771	Spectrin 8.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.53304	391.770496	391.984601	121	106	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	156899267	156899267	15630	1	C	G	G	21	21	SPTA1	G	3	3
SPEN	23013	broad.mit.edu	36	1	16075659	16075659	+	Missense_Mutation	SNP	C	A	A			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16075659C>A	uc001axk.1	+	c.780C>A	c.(778-780)AGC>AGA	p.S260R		NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	260	Ser-rich.|Arg-rich.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	14		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)								551				0.133803	17.938853	36.636652	19	123	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	Missense_Mutation	SNP	16075659	16075659	15550	1	C	A	A	26	26	SPEN	A	3	3
USH2A	7399	broad.mit.edu	36	1	214323446	214323446	+	Missense_Mutation	SNP	T	C	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:214323446T>C	uc001hku.1	-	c.5273A>G	c.(5272-5274)AAC>AGC	p.N1758S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1758	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22														0.259861	349.315704	371.809155	112	319	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	Missense_Mutation	SNP	214323446	214323446	17598	1	T	C	C	60	60	USH2A	C	4	4
C20orf94	128710	broad.mit.edu	36	20	10551963	10551963	+	Missense_Mutation	SNP	A	G	G			TCGA-32-5222-01	TCGA-32-5222-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:10551963A>G	uc002wnv.1	+	c.1163A>G	c.(1162-1164)GAA>GGA	p.E388G		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	388							protein binding				0														0.263158	105.767006	112.512377	35	98	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10551963	10551963	2201	20	A	G	G	9	9	C20orf94	G	4	4
ARFGEF2	10564	broad.mit.edu	36	20	47019214	47019214	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47019214G>A	uc002xtx.2	+	c.1183G>A	c.(1183-1185)GAC>AAC	p.D395N		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	395					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)	3						Esophageal Squamous(176;1738 1974 26285 33069 35354)								0.261538	138.029029	148.067536	51	144	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		Missense_Mutation	SNP	47019214	47019214	864	20	G	A	A	33	33	ARFGEF2	A	2	2
ARFGEF2	10564	broad.mit.edu	36	20	47024748	47024748	+	Silent	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:47024748G>A	uc002xtx.2	+	c.1704G>A	c.(1702-1704)GTG>GTA	p.V568V		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	568					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)	3						Esophageal Squamous(176;1738 1974 26285 33069 35354)								0.528846	166.322623	166.397259	55	49	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		Silent	SNP	47024748	47024748	864	20	G	A	A	48	48	ARFGEF2	A	2	2
ZFP64	55734	broad.mit.edu	36	20	50203300	50203300	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:50203300C>T	uc002xwl.1	-	c.838G>A	c.(838-840)GTG>ATG	p.V280M	ZFP64_uc002xwk.1_Intron|ZFP64_uc002xwm.1_Missense_Mutation_p.V278M|ZFP64_uc002xwn.1_Missense_Mutation_p.V226M	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	280	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.24	83.848411	93.090102	36	114	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50203300	50203300	18241	20	C	T	T	18	18	ZFP64	T	2	2
ZNF280A	129025	broad.mit.edu	36	22	21198791	21198791	+	Missense_Mutation	SNP	C	A	A			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:21198791C>A	uc002zwe.1	-	c.1164G>T	c.(1162-1164)AAG>AAT	p.K388N	ZNF280A_uc010gtq.1_Missense_Mutation_p.K388N	NM_080740	NP_542778	P59817	Z280A_HUMAN	zinc finger protein 280A	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)												0.28125	135.856847	144.121921	54	138	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(21;0.145)	Missense_Mutation	SNP	21198791	21198791	18406	22	C	A	A	28	28	ZNF280A	A	3	3
TBC1D8	11138	broad.mit.edu	36	2	101037067	101037067	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:101037067C>T	uc010fiv.1	-	c.521G>A	c.(520-522)CGC>CAC	p.R174H	TBC1D8_uc002tau.2_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	174	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3														0.313725	40.882914	42.457102	16	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101037067	101037067	16151	2	C	T	T	27	27	TBC1D8	T	1	1
IL1R2	7850	broad.mit.edu	36	2	102011247	102011247	+	Silent	SNP	A	G	G			TCGA-32-5222-01	TCGA-32-5222-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102011247A>G	uc002tbm.1	+	c.1158A>G	c.(1156-1158)CTA>CTG	p.L386L	IL1R2_uc002tbn.1_Silent_p.L386L	NM_004633	NP_775465	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	386	Cytoplasmic (Potential).				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity				0					Anakinra(DB00026)	Pancreas(106;189 1628 2302 5133 12295)				365				0.381295	175.365267	177.074476	53	86	AA		KEEP	---	---	---	---	capture			Silent	SNP	102011247	102011247	7960	2	A	G	G	16	16	IL1R2	G	4	4
IL18RAP	8807	broad.mit.edu	36	2	102407306	102407306	+	Silent	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102407306G>A	uc002tbx.1	+	c.579G>A	c.(577-579)AAG>AAA	p.K193K	IL18RAP_uc010fiz.1_Silent_p.K51K	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	193	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			ovary(2)	2														0.323353	163.522866	168.133036	54	113	GG		KEEP	---	---	---	---	capture			Silent	SNP	102407306	102407306	7949	2	G	A	A	35	35	IL18RAP	A	2	2
IRS1	3667	broad.mit.edu	36	2	227368252	227368252	+	Silent	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:227368252C>T	uc002voh.2	-	c.3447G>A	c.(3445-3447)GTG>GTA	p.V1149V	IRS1_uc010fxb.1_Silent_p.V1149V	NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1149					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			central_nervous_system(4)|lung(3)|ovary(1)|pancreas(1)	9		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)								143				0.394366	148.948526	150.341338	56	86	CC		KEEP	---	---	---	---	capture		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	Silent	SNP	227368252	227368252	8144	2	C	T	T	17	17	IRS1	T	2	2
CEP68	23177	broad.mit.edu	36	2	65150317	65150317	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:65150317C>T	uc002sdl.2	+	c.235C>T	c.(235-237)CAC>TAC	p.H79Y	CEP68_uc002sdj.2_Missense_Mutation_p.H79Y|CEP68_uc002sdk.2_Missense_Mutation_p.H79Y|CEP68_uc002sdi.1_Missense_Mutation_p.H79Y	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	79					centrosome organization	centrosome					0														0.204225	67.919135	79.430987	29	113	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65150317	65150317	3391	2	C	T	T	21	21	CEP68	T	2	2
SUCLG1	8802	broad.mit.edu	36	2	84506107	84506107	+	Missense_Mutation	SNP	C	A	A			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:84506107C>A	uc002son.1	-	c.957G>T	c.(955-957)CAG>CAT	p.Q319H		NM_003849	NP_003840	P53597	SUCA_HUMAN	succinate-CoA ligase, GDP-forming, alpha	319					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)	Ovarian(48;203 1101 37206 40305 50790)								0.417722	369.431009	371.300972	132	184	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84506107	84506107	15884	2	C	A	A	32	32	SUCLG1	A	3	3
CD8B	926	broad.mit.edu	36	2	86927373	86927373	+	Silent	SNP	C	G	G			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:86927373C>G	uc002ssa.1	-	c.528G>C	c.(526-528)CTG>CTC	p.L176L	RMND5A_uc002srs.2_Intron|CD8B_uc002srw.1_Silent_p.L176L|CD8B_uc002srx.1_Silent_p.L176L|CD8B_uc002sry.1_Intron|CD8B_uc010fgt.1_Intron|CD8B_uc002srz.1_Silent_p.L176L	NM_172099	NP_742097	P10966	CD8B_HUMAN	CD8b antigen isoform 1 precursor	176	Helical; (Potential).				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding				0														0.32	25.7912	26.510833	8	17	CC		KEEP	---	---	---	---	capture			Silent	SNP	86927373	86927373	3173	2	C	G	G	21	21	CD8B	G	3	3
COL6A5	256076	broad.mit.edu	36	3	131657081	131657081	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:131657081C>T	uc010htj.1	+	c.6671C>T	c.(6670-6672)ACG>ATG	p.T2224M	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc010htk.1_Missense_Mutation_p.T263M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	collagen, type XXIX, alpha 1	2224	Nonhelical region.				axon guidance|cell adhesion	collagen					0														0.297297	58.94612	61.650405	22	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131657081	131657081	3840	3	C	T	T	19	19	COL6A5	T	1	1
SERPINI1	5274	broad.mit.edu	36	3	168990920	168990920	+	Missense_Mutation	SNP	T	C	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:168990920T>C	uc003ffa.2	+	c.317T>C	c.(316-318)ATG>ACG	p.M106T	SERPINI1_uc003ffb.2_Missense_Mutation_p.M106T	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	106					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1														0.382775	243.722944	246.249953	80	129	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	168990920	168990920	14606	3	T	C	C	51	51	SERPINI1	C	4	4
ENTPD3	956	broad.mit.edu	36	3	40432382	40432382	+	Silent	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:40432382G>A	uc003ckd.2	+	c.645G>A	c.(643-645)ACG>ACA	p.T215T	ENTPD3_uc010hhy.1_Silent_p.T215T	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	215	Extracellular (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1														0.386555	142.73206	144.070933	46	73	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	Silent	SNP	40432382	40432382	5333	3	G	A	A	39	39	ENTPD3	A	1	1
DOCK3	1795	broad.mit.edu	36	3	51393574	51393574	+	Silent	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:51393574C>T	uc003dbb.1	+	c.5637C>T	c.(5635-5637)GAC>GAT	p.D1879D		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1879						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0										1034				0.346667	203.499817	208.161028	78	147	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	Silent	SNP	51393574	51393574	4872	3	C	T	T	19	19	DOCK3	T	1	1
ZNF330	27309	broad.mit.edu	36	4	142374508	142374508	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:142374508C>T	uc003iiq.2	+	c.878C>T	c.(877-879)ACT>ATT	p.T293I		NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	293						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)													0.393333	176.492533	177.986588	59	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142374508	142374508	18440	4	C	T	T	20	20	ZNF330	T	2	2
SPOCK3	50859	broad.mit.edu	36	4	167892737	167892737	+	Silent	SNP	A	G	G			TCGA-32-5222-01	TCGA-32-5222-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:167892737A>G	uc003iri.1	-	c.1221T>C	c.(1219-1221)GAT>GAC	p.D407D	SPOCK3_uc003irj.1_Silent_p.D404D	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	407	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)												0.377193	148.205413	149.711364	43	71	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.02)	Silent	SNP	167892737	167892737	15594	4	A	G	G	16	16	SPOCK3	G	4	4
PCDHA13	56136	broad.mit.edu	36	5	140243700	140243700	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140243700G>A	uc003lif.1	+	c.1663G>A	c.(1663-1665)GTG>ATG	p.V555M	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhd.1_Intron|PCDHA3_uc003lhf.1_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA4_uc003lhi.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.1_Intron|PCDHA6_uc003lho.1_Intron|PCDHA6_uc003lhn.1_Intron|PCDHA7_uc003lhq.1_Intron|PCDHA8_uc003lhs.1_Intron|PCDHA9_uc003lhu.1_Intron|PCDHA10_uc003lhx.1_Intron|PCDHA10_uc003lhw.1_Intron|PCDHA11_uc003lia.1_Intron|PCDHA12_uc003lic.1_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.V555M|PCDHA13_uc003lid.1_Missense_Mutation_p.V555M	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	555	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4						Melanoma(147;1739 1852 5500 27947 37288)								0.33913	203.960561	209.231941	78	152	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140243700	140243700	11943	5	G	A	A	40	40	PCDHA13	A	1	1
PCDHGA8	9708	broad.mit.edu	36	5	140754554	140754554	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140754554G>A	uc003lkd.1	+	c.1990G>A	c.(1990-1992)GTG>ATG	p.V664M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.2_Missense_Mutation_p.V664M	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	664	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.427083	114.653603	115.099401	41	55	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140754554	140754554	11980	5	G	A	A	40	40	PCDHGA8	A	1	1
OR10C1	442194	broad.mit.edu	36	6	29516427	29516427	+	Missense_Mutation	SNP	G	T	T			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29516427G>T	uc003nmh.1	+	c.656G>T	c.(655-657)CGT>CTT	p.R219L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q6IFQ5	Q6IFQ5_HUMAN	olfactory receptor, family 10, subfamily C,	219						integral to membrane	olfactory receptor activity				0														0.372587	594.996334	602.358979	193	325	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29516427	29516427	11304	6	G	T	T	40	40	OR10C1	T	3	3
TMEM63B	55362	broad.mit.edu	36	6	44230442	44230442	+	Silent	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44230442G>A	uc003owr.1	+	c.2343G>A	c.(2341-2343)GTG>GTA	p.V781V	TMEM63B_uc003ows.1_Silent_p.V684V|TMEM63B_uc010jyz.1_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	781						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)													0.361111	148.860303	151.30514	52	92	GG		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		Silent	SNP	44230442	44230442	16730	6	G	A	A	47	47	TMEM63B	A	2	2
TDRD6	221400	broad.mit.edu	36	6	46764696	46764696	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46764696C>T	uc003oyj.1	+	c.872C>T	c.(871-873)ACG>ATG	p.T291M	TDRD6_uc010jze.1_Missense_Mutation_p.T285M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	291					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)	5														0.454545	120.893005	121.050838	40	48	CC		KEEP	---	---	---	---	capture	Lung(136;0.192)		Missense_Mutation	SNP	46764696	46764696	16261	6	C	T	T	19	19	TDRD6	T	1	1
GSTA1	2938	broad.mit.edu	36	6	52766965	52766965	+	Missense_Mutation	SNP	C	T	T	rs1051733	by-hapmap	TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52766965C>T	uc003paz.1	-	c.331G>A	c.(331-333)GTA>ATA	p.V111I		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	111	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)									0.337526	456.236494	467.368827	161	316	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52766965	52766965	7110	6	C	T	T	19	19	GSTA1	T	1	1
DPPA5	340168	broad.mit.edu	36	6	74120635	74120635	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:74120635G>A	uc003pgs.1	-	c.35C>T	c.(34-36)CCG>CTG	p.P12L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	12					multicellular organismal development	cytoplasm	RNA binding				0														0.387931	141.149819	142.426042	45	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74120635	74120635	4921	6	G	A	A	39	39	DPPA5	A	1	1
KIAA1009	22832	broad.mit.edu	36	6	84968173	84968173	+	Splice_Site_SNP	SNP	C	G	G			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:84968173C>G	uc010kbp.1	-	c.718_splice	c.e8+1	p.V240_splice	KIAA1009_uc003pkj.2_Splice_Site_SNP_p.V164_splice|KIAA1009_uc003pkk.2_Splice_Site_SNP_p.V240_splice	NM_014895	NP_055710			KIAA1009 protein						cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)												0.333333	7.048086	7.195647	2	4	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.089)	Splice_Site_SNP	SNP	84968173	84968173	8510	6	C	G	G	18	18	KIAA1009	G	5	3
HECW1	23072	broad.mit.edu	36	7	43450928	43450928	+	Silent	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:43450928G>A	uc003tid.1	+	c.1632G>A	c.(1630-1632)ACG>ACA	p.T544T		NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.186335	61.763723	76.60006	30	131	GG		KEEP	---	---	---	---	capture			Silent	SNP	43450928	43450928	7325	7	G	A	A	39	39	HECW1	A	1	1
PCLO	27445	broad.mit.edu	36	7	82423918	82423918	+	Silent	SNP	A	G	G			TCGA-32-5222-01	TCGA-32-5222-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:82423918A>G	uc003uhx.2	-	c.4287T>C	c.(4285-4287)GAT>GAC	p.D1429D	PCLO_uc003uhv.2_Silent_p.D1429D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1360					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														0.234568	145.450809	161.115505	57	186	AA		KEEP	---	---	---	---	capture			Silent	SNP	82423918	82423918	12003	7	A	G	G	8	8	PCLO	G	4	4
PLEC	5339	broad.mit.edu	36	8	145066973	145066973	+	Nonsense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145066973G>A	uc003zaf.1	-	c.9415C>T	c.(9415-9417)CGA>TGA	p.R3139*	PLEC_uc003zag.1_Nonsense_Mutation_p.R2980*|PLEC_uc003zah.1_Nonsense_Mutation_p.R2988*|PLEC_uc003zai.1_Nonsense_Mutation_p.R3029*|PLEC_uc003zaj.1_Nonsense_Mutation_p.R3029*|PLEC_uc003zab.1_Nonsense_Mutation_p.R3002*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3006*|PLEC_uc003zad.1_Nonsense_Mutation_p.R3002*|PLEC_uc003zae.1_Nonsense_Mutation_p.R2970*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	3139	Plectin 6.|Globular 2.				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														0.435644	120.688287	121.051396	44	57	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	145066973	145066973	12478	8	G	A	A	38	38	PLEC	A	5	1
ADAM28	10863	broad.mit.edu	36	8	24234721	24234721	+	Missense_Mutation	SNP	T	C	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:24234721T>C	uc003xdy.1	+	c.694T>C	c.(694-696)TTT>CTT	p.F232L	ADAM28_uc003xdx.1_Missense_Mutation_p.F232L	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	232	Peptidase M12B.|Extracellular (Potential).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(2)|lung(1)|central_nervous_system(1)	4		Prostate(55;0.0959)				NSCLC(193;488 2149 22258 34798 40734)				410				0.393204	285.036889	287.092135	81	125	TT		KEEP	---	---	---	---	capture		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	Missense_Mutation	SNP	24234721	24234721	247	8	T	C	C	52	52	ADAM28	C	4	4
ST18	9705	broad.mit.edu	36	8	53207270	53207270	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:53207270C>T	uc003xqz.1	-	c.2467G>A	c.(2467-2469)GGC>AGC	p.G823S	ST18_uc003xra.1_Missense_Mutation_p.G823S	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	823	C2HC-type 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.395062	89.366173	90.15143	32	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53207270	53207270	15730	8	C	T	T	21	21	ST18	T	2	2
OR13C3	138803	broad.mit.edu	36	9	106338107	106338107	+	Missense_Mutation	SNP	G	A	A			TCGA-32-5222-01	TCGA-32-5222-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106338107G>A	uc004bcb.1	-	c.809C>T	c.(808-810)ACG>ATG	p.T270M		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C,	270	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						GBM(86;1248 1274 14222 15028 46219)								0.399267	318.310526	320.735812	109	164	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106338107	106338107	11341	9	G	A	A	40	40	OR13C3	A	1	1
OR13C8	138802	broad.mit.edu	36	9	106371372	106371372	+	Missense_Mutation	SNP	T	C	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:106371372T>C	uc004bcc.1	+	c.103T>C	c.(103-105)TAC>CAC	p.Y35H		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.379549	689.200643	696.570699	219	358	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106371372	106371372	11344	9	T	C	C	57	57	OR13C8	C	4	4
HEMGN	55363	broad.mit.edu	36	9	99732507	99732507	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:99732507C>T	uc004axy.1	-	c.991G>A	c.(991-993)GAA>AAA	p.E331K	HEMGN_uc004axz.1_Missense_Mutation_p.E331K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	331					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)												0.351406	500.893262	510.584049	175	323	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99732507	99732507	7333	9	C	T	T	31	31	HEMGN	T	1	1
GABRA3	2556	broad.mit.edu	36	X	151283662	151283662	+	Missense_Mutation	SNP	T	C	C			TCGA-32-5222-01	TCGA-32-5222-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:151283662T>C	uc010ntk.1	-	c.37A>G	c.(37-39)AGC>GGC	p.S13G		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	13					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	NSCLC(142;2578 2613 10251 16743)								0.8	494.993733	510.058635	144	36	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151283662	151283662	6413	23	T	C	C	55	55	GABRA3	C	4	4
DMD	1756	broad.mit.edu	36	X	32290902	32290902	+	Missense_Mutation	SNP	C	T	T			TCGA-32-5222-01	TCGA-32-5222-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:32290902C>T	uc004dda.1	-	c.5249G>A	c.(5248-5250)AGG>AAG	p.R1750K	DMD_uc004dcw.2_Missense_Mutation_p.R406K|DMD_uc004dcx.2_Missense_Mutation_p.R409K|DMD_uc004dcz.2_Missense_Mutation_p.R1627K|DMD_uc004dcy.1_Missense_Mutation_p.R1746K|DMD_uc004ddb.1_Missense_Mutation_p.R1742K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1750	Spectrin 12.|Interaction with SYNM (By similarity).				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)												0.792793	309.360045	318.175987	88	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32290902	32290902	4760	23	C	T	T	24	24	DMD	T	2	2
