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
TCERG1L	256536	broad.mit.edu	36	10	132997546	132997546	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0670-01	TCGA-12-0670-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:132997546A>C	uc001lkp.1	-	c.349T>G	c.(349-351)TTT>GTT	p.F117V		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	117										large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)						800				0.75	6.521623	6.74269	3	1	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	132997546	132997546	16212	10	A	C	C	2	2	TCERG1L	C	4	4
SYNPO2L	79933	broad.mit.edu	36	10	75077192	75077192	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75077192C>G	uc001jut.2	-	c.2224G>C	c.(2224-2226)GCA>CCA	p.A742P	SYNPO2L_uc001jus.2_Missense_Mutation_p.A518P	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	742	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)													0.5	6.676393	6.676393	3	3	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75077192	75077192	15979	10	C	G	G	26	26	SYNPO2L	G	3	3
OR51E1	143503	broad.mit.edu	36	11	4630490	4630490	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4630490G>A	uc001lzi.2	+	c.155G>A	c.(154-156)CGG>CAG	p.R52Q	OR51E1_uc001lzj.1_Missense_Mutation_p.R52Q	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.40944	1117.050952	1123.558483	373	538	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4630490	4630490	11504	11	G	A	A	39	39	OR51E1	A	1	1
UCP3	7352	broad.mit.edu	36	11	73392694	73392694	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0670-01	TCGA-12-0670-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:73392694A>G	uc001our.1	-	c.650T>C	c.(649-651)TTC>TCC	p.F217S	UCP3_uc001ous.1_Missense_Mutation_p.F217S	NM_003356	NP_003347	P55916	UCP3_HUMAN	uncoupling protein 3 isoform UCP3L	217	Solcar 3.				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			pancreas(1)	1	Breast(11;2.08e-05)													0.363636	9.395288	9.575851	4	7	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73392694	73392694	17490	11	A	G	G	9	9	UCP3	G	4	4
CIT	11113	broad.mit.edu	36	12	118756286	118756286	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:118756286C>G	uc001txj.1	-	c.646G>C	c.(646-648)GGA>CGA	p.G216R	CIT_uc001txi.1_Missense_Mutation_p.G216R	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	216	Protein kinase.				intracellular signal transduction|protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)						1263				0.100806	25.259413	104.255889	50	446	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	118756286	118756286	3573	12	C	G	G	22	22	CIT	G	3	3
GRIN2B	2904	broad.mit.edu	36	12	13798014	13798014	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:13798014C>T	uc001rbt.2	-	c.514G>A	c.(514-516)GTC>ATC	p.V172I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	172	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.370773	872.761235	884.845282	307	521	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13798014	13798014	7059	12	C	T	T	19	19	GRIN2B	T	1	1
ARHGAP9	64333	broad.mit.edu	36	12	56159261	56159261	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:56159261G>A	uc001sod.1	-	c.409C>T	c.(409-411)CGC>TGC	p.R137C	ARHGAP9_uc001snz.1_5'Flank|ARHGAP9_uc001soa.1_5'Flank|ARHGAP9_uc001sob.1_Missense_Mutation_p.R66C|ARHGAP9_uc001soc.1_Missense_Mutation_p.R66C|ARHGAP9_uc001soe.1_Missense_Mutation_p.R145C	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	66	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)											0.813906	1255.815185	1300.938061	398	91	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56159261	56159261	903	12	G	A	A	40	40	ARHGAP9	A	1	1
LRFN5	145581	broad.mit.edu	36	14	41430363	41430363	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:41430363C>T	uc001wvm.1	+	c.1546C>T	c.(1546-1548)CGT>TGT	p.R516C	LRFN5_uc010ana.1_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	516	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.387755	226.287121	228.439037	76	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41430363	41430363	9314	14	C	T	T	27	27	LRFN5	T	1	1
FANCM	57697	broad.mit.edu	36	14	44712049	44712049	+	Silent	SNP	T	C	C			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:44712049T>C	uc001wwd.2	+	c.2202T>C	c.(2200-2202)TCT>TCC	p.S734S	FANCM_uc010anf.1_Silent_p.S708S|FANCM_uc001wwe.2_Silent_p.S270S|FANCM_uc010ang.1_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	734					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.286624	127.407098	133.822301	45	112	TT		KEEP	---	---	---	---	capture			Silent	SNP	44712049	44712049	5907	14	T	C	C	55	55	FANCM	C	4	4
KCNH5	27133	broad.mit.edu	36	14	62537830	62537830	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:62537830T>G	uc001xfx.1	-	c.405A>C	c.(403-405)AAA>AAC	p.K135N	KCNH5_uc001xfy.1_Missense_Mutation_p.K135N|KCNH5_uc001xfz.1_Missense_Mutation_p.K77N|KCNH5_uc001xga.2_Missense_Mutation_p.K77N	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	135	PAC.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)										0.375	6.678399	6.95671	6	10	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62537830	62537830	8340	14	T	G	G	60	60	KCNH5	G	4	4
HEATR4	399671	broad.mit.edu	36	14	73059177	73059177	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:73059177C>T	uc010art.1	-	c.292G>A	c.(292-294)GAA>AAA	p.E98K		NM_203309	NP_976054	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	98							binding				0				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)										0.352113	62.756519	64.12387	25	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73059177	73059177	7313	14	C	T	T	31	31	HEATR4	T	1	1
DUOX2	50506	broad.mit.edu	36	15	43179299	43179299	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:43179299C>T	uc010bea.1	-	c.3268G>A	c.(3268-3270)GTC>ATC	p.V1090I	DUOX2_uc001zun.1_Missense_Mutation_p.V1090I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1090	Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|pancreas(1)	3		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)										0.25	32.416196	35.814181	15	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43179299	43179299	4986	15	C	T	T	19	19	DUOX2	T	1	1
FBN1	2200	broad.mit.edu	36	15	46675770	46675770	+	Splice_Site_SNP	SNP	A	G	G			TCGA-12-0670-01	TCGA-12-0670-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46675770A>G	uc001zwx.1	-	c.e6_splice_site				NM_000138	NP_000129			fibrillin 1 precursor						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)						2933				0.184783	36.528291	45.095799	17	75	AA		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	46675770	46675770	5938	15	A	G	G	14	14	FBN1	G	5	4
SECISBP2L	9728	broad.mit.edu	36	15	47096363	47096363	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:47096363T>C	uc001zxe.1	-	c.1393A>G	c.(1393-1395)ATA>GTA	p.I465V	SECISBP2L_uc001zxd.1_Missense_Mutation_p.I420V|SECISBP2L_uc010bep.1_Missense_Mutation_p.I227V|SECISBP2L_uc010beq.1_Missense_Mutation_p.I337V	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	465										breast(1)	1														0.492537	107.972771	107.976022	33	34	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47096363	47096363	14493	15	T	C	C	52	52	SECISBP2L	C	4	4
PLA2G15	23659	broad.mit.edu	36	16	66847363	66847363	+	Silent	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66847363C>T	uc002evr.1	+	c.696C>T	c.(694-696)GGC>GGT	p.G232G	PLA2G15_uc002evs.1_Silent_p.G53G	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase	232					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1														0.444444	9.337555	9.369834	4	5	CC		KEEP	---	---	---	---	capture			Silent	SNP	66847363	66847363	12418	16	C	T	T	27	27	PLA2G15	T	1	1
ADAMTS18	170692	broad.mit.edu	36	16	75882673	75882673	+	Silent	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:75882673C>T	uc002ffc.2	-	c.3393G>A	c.(3391-3393)CCG>CCA	p.P1131P		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1131	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.40458	146.225969	147.273914	53	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	75882673	75882673	264	16	C	T	T	19	19	ADAMTS18	T	1	1
PLCG2	5336	broad.mit.edu	36	16	80510638	80510638	+	Silent	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80510638C>T	uc002fgt.1	+	c.2103C>T	c.(2101-2103)CAC>CAT	p.H701H	PLCG2_uc010chg.1_Silent_p.H701H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	701	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8										1880				0.441989	483.546359	484.606992	160	202	CC		KEEP	---	---	---	---	capture			Silent	SNP	80510638	80510638	12462	16	C	T	T	20	20	PLCG2	T	2	2
TMEM93	83460	broad.mit.edu	36	17	3519507	3519507	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:3519507G>A	uc002fwf.1	+	c.318G>A	c.(316-318)ATG>ATA	p.M106I	P2RX5_uc002fwd.1_Non-coding_Transcript|P2RX5_uc002fwh.1_3'UTR|TAX1BP3_uc002fwc.1_5'Flank|TAX1BP3_uc002fwe.1_5'Flank|TMEM93_uc002fwg.1_Missense_Mutation_p.M106I|TMEM93_uc010ckk.1_Missense_Mutation_p.M106I	NM_031298	NP_112588	Q9BV81	TMM93_HUMAN	transmembrane protein 93	106	Helical; (Potential).					integral to membrane					0														0.375	63.49237	64.248275	21	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3519507	3519507	16762	17	G	A	A	47	47	TMEM93	A	2	2
TBX21	30009	broad.mit.edu	36	17	43177254	43177254	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:43177254G>A	uc002ilv.1	+	c.1131G>A	c.(1129-1131)GCG>GCA	p.A377A		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	377					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.456522	189.565653	189.783732	63	75	GG		KEEP	---	---	---	---	capture			Silent	SNP	43177254	43177254	16183	17	G	A	A	37	37	TBX21	A	1	1
PIK3R5	23533	broad.mit.edu	36	17	8755482	8755482	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:8755482G>A	uc002glt.1	-	c.55C>T	c.(55-57)CGC>TGC	p.R19C	PIK3R5_uc002glu.2_De_novo_Start_InFrame|PIK3R5_uc010coa.1_Missense_Mutation_p.R19C|PIK3R5_uc010cob.1_Intron	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	19					platelet activation	cytosol|membrane|nucleus				large_intestine(1)|central_nervous_system(1)	2						NSCLC(18;589 615 7696 20311 50332)								0.484848	47.90171	47.90805	16	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8755482	8755482	12346	17	G	A	A	40	40	PIK3R5	A	1	1
ALPK2	115701	broad.mit.edu	36	18	54316287	54316287	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54316287G>A	uc002lhj.2	-	c.6270C>T	c.(6268-6270)GAC>GAT	p.D2090D		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2090	Alpha-type protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.383155	949.572434	959.644559	323	520	GG		KEEP	---	---	---	---	capture			Silent	SNP	54316287	54316287	548	18	G	A	A	40	40	ALPK2	A	1	1
C19orf57	79173	broad.mit.edu	36	19	13867356	13867356	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13867356T>C	uc002mxl.1	-	c.35A>G	c.(34-36)GAG>GGG	p.E12G	C19orf57_uc002mxk.1_5'Flank|C19orf57_uc002mxm.1_Missense_Mutation_p.E12G	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	12					multicellular organismal development		protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2e-21)											0.3625	90.157339	91.486412	29	51	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13867356	13867356	2003	19	T	C	C	54	54	C19orf57	C	4	4
NOTCH3	4854	broad.mit.edu	36	19	15156221	15156221	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15156221G>A	uc002nan.1	-	c.2451C>T	c.(2449-2451)CCC>CCT	p.P817P	NOTCH3_uc002nao.1_Intron	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3	817	Extracellular (Potential).|EGF-like 21; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			ovary(5)|lung(2)|central_nervous_system(1)	8			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)							417				0.336323	213.141718	218.433836	75	148	GG		KEEP	---	---	---	---	capture			Silent	SNP	15156221	15156221	10953	19	G	A	A	39	39	NOTCH3	A	1	1
SIN3B	23309	broad.mit.edu	36	19	16850080	16850080	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16850080T>G	uc002ney.1	+	c.3137T>G	c.(3136-3138)GTG>GGG	p.V1046G	SIN3B_uc002nez.1_Missense_Mutation_p.V1014G|SIN3B_uc010eaj.1_5'UTR	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	1046					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2														0.391304	14.422542	14.703444	9	14	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16850080	16850080	14821	19	T	G	G	59	59	SIN3B	G	4	4
ATP13A1	57130	broad.mit.edu	36	19	19617490	19617490	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19617490T>G	uc002nnh.2	-	c.3470A>C	c.(3469-3471)AAC>ACC	p.N1157T	GMIP_uc002nnd.1_5'Flank|ATP13A1_uc002nne.1_Missense_Mutation_p.N297T|ATP13A1_uc002nnf.2_Missense_Mutation_p.N525T|ATP13A1_uc002nng.1_Missense_Mutation_p.N1039T	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1157	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						Esophageal Squamous(142;920 1789 9047 14684 24777)								0.222222	6.784115	8.070601	4	14	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19617490	19617490	1142	19	T	G	G	60	60	ATP13A1	G	4	4
DHX34	9704	broad.mit.edu	36	19	52562129	52562129	+	Silent	SNP	A	C	C			TCGA-12-0670-01	TCGA-12-0670-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:52562129A>C	uc002pgl.1	+	c.1650A>C	c.(1648-1650)CCA>CCC	p.P550P	DHX34_uc010elc.1_Silent_p.P465P	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	550						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)	4		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)										0.28	7.610971	8.78164	7	18	AA		KEEP	---	---	---	---	capture			Silent	SNP	52562129	52562129	4686	19	A	C	C	6	6	DHX34	C	4	4
SIGLEC9	27180	broad.mit.edu	36	19	56320128	56320128	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56320128G>A	uc002pvu.1	+	c.85G>A	c.(85-87)GTG>ATG	p.V29M		NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	29	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding				0		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)										0.26506	56.124491	60.258245	22	61	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56320128	56320128	14810	19	G	A	A	40	40	SIGLEC9	A	1	1
ZSCAN18	65982	broad.mit.edu	36	19	63288375	63288375	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63288375G>A	uc002qrh.1	-	c.1022C>T	c.(1021-1023)GCG>GTG	p.A341V	ZSCAN18_uc002qri.1_Missense_Mutation_p.A341V|ZSCAN18_uc002qrj.2_Missense_Mutation_p.A340V|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.1_3'UTR	NM_023926	NP_076415	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	341					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)										0.307692	17.475511	18.342182	8	18	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63288375	63288375	18834	19	G	A	A	38	38	ZSCAN18	A	1	1
FBN3	84467	broad.mit.edu	36	19	8100205	8100205	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8100205C>T	uc002mjf.1	-	c.2089G>A	c.(2089-2091)GTG>ATG	p.V697M		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	697	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.377778	93.416026	94.599341	34	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8100205	8100205	5940	19	C	T	T	19	19	FBN3	T	1	1
MUC16	94025	broad.mit.edu	36	19	8920653	8920653	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8920653C>T	uc002mkp.1	-	c.27793G>A	c.(27793-27795)GTT>ATT	p.V9265I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9267	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.295327	419.000288	439.017388	158	377	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8920653	8920653	10367	19	C	T	T	17	17	MUC16	T	2	2
MUC16	94025	broad.mit.edu	36	19	8927007	8927007	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8927007G>T	uc002mkp.1	-	c.21439C>A	c.(21439-21441)CTT>ATT	p.L7147I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7149	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.288714	291.038168	306.263819	110	271	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8927007	8927007	10367	19	G	T	T	36	36	MUC16	T	3	3
C19orf6	91304	broad.mit.edu	36	19	963523	963523	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:963523G>A	uc002lqr.1	-	c.657C>T	c.(655-657)TTC>TTT	p.F219F	C19orf6_uc002lqq.1_Non-coding_Transcript|C19orf6_uc002lqs.1_Silent_p.F219F	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	membralin isoform 1	219						cytoplasm|integral to membrane				pancreas(2)|breast(1)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)										0.266667	8.827047	10.356986	8	22	GG		KEEP	---	---	---	---	capture			Silent	SNP	963523	963523	2005	19	G	A	A	41	41	C19orf6	A	2	2
MAGI3	260425	broad.mit.edu	36	1	113986190	113986190	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:113986190G>T	uc001edh.2	+	c.1570G>T	c.(1570-1572)GAC>TAC	p.D524Y	MAGI3_uc001edi.2_Missense_Mutation_p.D499Y|MAGI3_uc001edj.1_Missense_Mutation_p.D220Y	NM_152900	NP_690864	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	524					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.451429	455.975669	456.698028	158	192	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113986190	113986190	9575	1	G	T	T	45	45	MAGI3	T	3	3
NPR1	4881	broad.mit.edu	36	1	151918882	151918882	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0670-01	TCGA-12-0670-01	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)		LUSC - Lung squamous cell carcinoma(543;0.151)		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				0.363636	7.273983	7.462335	4	7	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151918882	151918882	10999	1	T	C	C	54	54	NPR1	C	4	4
NPR1	4881	broad.mit.edu	36	1	151926404	151926404	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151926404G>A	uc001fcs.2	+	c.2040G>A	c.(2038-2040)GGG>GGA	p.G680G		NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	680	Cytoplasmic (Potential).|Protein kinase.				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)		LUSC - Lung squamous cell carcinoma(543;0.151)		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				0.427784	1131.587916	1135.723465	388	519	GG		KEEP	---	---	---	---	capture			Silent	SNP	151926404	151926404	10999	1	G	A	A	42	42	NPR1	A	2	2
SEMA4A	64218	broad.mit.edu	36	1	154395166	154395166	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:154395166G>A	uc001fnl.1	+	c.495G>A	c.(493-495)TCG>TCA	p.S165S	SEMA4A_uc009wrq.1_Silent_p.S165S|SEMA4A_uc001fnm.1_Silent_p.S165S|SEMA4A_uc001fnn.1_Silent_p.S33S|SEMA4A_uc001fno.1_Silent_p.S165S	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B	165	Sema.|Extracellular (Potential).				axon guidance|visual perception	integral to membrane|plasma membrane	receptor activity			ovary(1)	1	Hepatocellular(266;0.158)													0.355556	48.897199	49.720059	16	29	GG		KEEP	---	---	---	---	capture			Silent	SNP	154395166	154395166	14517	1	G	A	A	39	39	SEMA4A	A	1	1
CLCNKB	1188	broad.mit.edu	36	1	16243659	16243659	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16243659C>T	uc001axw.2	+	c.85C>T	c.(85-87)CGC>TGC	p.R29C	CLCNKB_uc001axx.2_Missense_Mutation_p.R29C	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb	29	Cytoplasmic (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)										0.454545	28.64273	28.68216	10	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16243659	16243659	3606	1	C	T	T	23	23	CLCNKB	T	1	1
CROCC	9696	broad.mit.edu	36	1	17147969	17147969	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17147969G>A	uc001azt.2	+	c.2797G>A	c.(2797-2799)GAG>AAG	p.E933K	CROCC_uc001azu.2_Missense_Mutation_p.E236K|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	933	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)										0.147059	6.352922	10.424103	5	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17147969	17147969	4032	1	G	A	A	37	37	CROCC	A	1	1
ZNF678	339500	broad.mit.edu	36	1	225909584	225909584	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:225909584G>T	uc001hqw.1	+	c.1010G>T	c.(1009-1011)AGT>ATT	p.S337I	ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron	NM_178549	NP_848644			zinc finger protein 678											pancreas(1)	1		Prostate(94;0.0885)												0.285714	9.793081	10.370827	4	10	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	225909584	225909584	18680	1	G	T	T	36	36	ZNF678	T	3	3
OR2G6	391211	broad.mit.edu	36	1	246751771	246751771	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246751771G>A	uc001ien.1	+	c.201G>A	c.(199-201)TCG>TCA	p.S67S		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.405797	167.781511	168.848947	56	82	GG		KEEP	---	---	---	---	capture			Silent	SNP	246751771	246751771	11406	1	G	A	A	40	40	OR2G6	A	1	1
SCMH1	22955	broad.mit.edu	36	1	41351703	41351703	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:41351703C>G	uc001cgo.1	-	c.554G>C	c.(553-555)TGC>TCC	p.C185S	SCMH1_uc001cgp.1_Missense_Mutation_p.C124S|SCMH1_uc001cgr.1_Missense_Mutation_p.C124S|SCMH1_uc001cgs.1_Missense_Mutation_p.C195S|SCMH1_uc001cgt.1_Missense_Mutation_p.C124S|SCMH1_uc001cgq.1_Missense_Mutation_p.C138S	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	185	MBT 2.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)												0.285714	8.792868	9.37099	4	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41351703	41351703	14390	1	C	G	G	25	25	SCMH1	G	3	3
DHCR24	1718	broad.mit.edu	36	1	55092307	55092307	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:55092307G>A	uc001cyc.1	-	c.1209C>T	c.(1207-1209)AAC>AAT	p.N403N		NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	403					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|oxidation-reduction process|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						Pancreas(39;516 1021 24601 30715 32780)								0.463636	152.708306	152.834897	51	59	GG		KEEP	---	---	---	---	capture			Silent	SNP	55092307	55092307	4655	1	G	A	A	40	40	DHCR24	A	1	1
KIAA1755	85449	broad.mit.edu	36	20	36280177	36280177	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36280177G>A	uc002xhy.1	-	c.2562C>T	c.(2560-2562)AGC>AGT	p.S854S	KIAA1755_uc002xhv.1_5'Flank|KIAA1755_uc002xhw.1_5'Flank|KIAA1755_uc002xhx.1_Silent_p.S132S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	854										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.29661	89.178978	93.544916	35	83	GG		KEEP	---	---	---	---	capture			Silent	SNP	36280177	36280177	8568	20	G	A	A	38	38	KIAA1755	A	1	1
KIAA1755	85449	broad.mit.edu	36	20	36303157	36303157	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36303157C>T	uc002xhy.1	-	c.790G>A	c.(790-792)GAC>AAC	p.D264N	KIAA1755_uc002xhz.1_Missense_Mutation_p.D264N	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	264										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.311111	114.999374	119.289746	42	93	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36303157	36303157	8568	20	C	T	T	30	30	KIAA1755	T	2	2
SCRT2	85508	broad.mit.edu	36	20	592596	592596	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:592596C>T	uc002wec.1	-	c.643G>A	c.(643-645)GGC>AGC	p.G215S	SRXN1_uc002web.1_Intron	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN	scratch 2 protein	215	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.181818	8.091582	10.180463	4	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	592596	592596	14424	20	C	T	T	23	23	SCRT2	T	1	1
SAMSN1	64092	broad.mit.edu	36	21	14806701	14806701	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:14806701G>C	uc002yjv.1	-	c.548C>G	c.(547-549)ACA>AGA	p.T183R	SAMSN1_uc002yju.1_Missense_Mutation_p.T115R|SAMSN1_uc010gky.1_Intron	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	115					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	nucleus	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)										0.421053	153.7793	154.399497	48	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14806701	14806701	14310	21	G	C	C	48	48	SAMSN1	C	3	3
TIAM1	7074	broad.mit.edu	36	21	31448442	31448442	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:31448442G>A	uc002yow.1	-	c.3165C>T	c.(3163-3165)TAC>TAT	p.Y1055Y		NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1055	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.480315	190.636969	190.674711	61	66	GG		KEEP	---	---	---	---	capture			Silent	SNP	31448442	31448442	16418	21	G	A	A	40	40	TIAM1	A	1	1
TRPM2	7226	broad.mit.edu	36	21	44635244	44635244	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44635244G>A	uc010gpt.1	+	c.1348G>A	c.(1348-1350)GAG>AAG	p.E450K	TRPM2_uc002zet.1_Missense_Mutation_p.E450K|TRPM2_uc002zeu.1_Missense_Mutation_p.E450K|TRPM2_uc002zew.1_Missense_Mutation_p.E450K|TRPM2_uc002zex.1_Missense_Mutation_p.E236K|TRPM2_uc002zey.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	450	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.4	11.798848	11.885973	4	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44635244	44635244	17137	21	G	A	A	37	37	TRPM2	A	1	1
LCT	3938	broad.mit.edu	36	2	136282670	136282670	+	Silent	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:136282670C>T	uc002tuu.1	-	c.3717G>A	c.(3715-3717)TCG>TCA	p.S1239S		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1239	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.481752	395.843883	395.918438	132	142	CC		KEEP	---	---	---	---	capture			Silent	SNP	136282670	136282670	9017	2	C	T	T	19	19	LCT	T	1	1
SP100	6672	broad.mit.edu	36	2	231071463	231071463	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:231071463C>A	uc002vqu.1	+	c.1689C>A	c.(1687-1689)AAC>AAA	p.N563K	SP100_uc002vqs.2_Missense_Mutation_p.N563K|SP100_uc002vqt.1_Missense_Mutation_p.N563K	NM_001080391	NP_001073860	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 1	563					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon|retinoic acid receptor signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|general transcriptional repressor activity|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)										0.402299	102.805034	103.531685	35	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	231071463	231071463	15460	2	C	A	A	17	17	SP100	A	3	3
DYSF	8291	broad.mit.edu	36	2	71759875	71759875	+	Splice_Site_SNP	SNP	T	C	C			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:71759875T>C	uc010fen.1	+	c.e53_splice_site			DYSF_uc002sie.1_Splice_Site_SNP|DYSF_uc002sig.2_Splice_Site_SNP|DYSF_uc010fee.1_Splice_Site_SNP|DYSF_uc010fef.1_Splice_Site_SNP|DYSF_uc010feg.1_Splice_Site_SNP|DYSF_uc010feh.1_Splice_Site_SNP|DYSF_uc010fei.1_Splice_Site_SNP|DYSF_uc010fej.1_Splice_Site_SNP|DYSF_uc002sif.1_Splice_Site_SNP|DYSF_uc010fek.1_Splice_Site_SNP|DYSF_uc010fel.1_Splice_Site_SNP|DYSF_uc010fem.1_Splice_Site_SNP|DYSF_uc010feo.1_Splice_Site_SNP	NM_003494	NP_003485			dysferlin isoform 8							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.634615	108.489075	109.320808	33	19	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	71759875	71759875	5045	2	T	C	C	57	57	DYSF	C	5	4
GAP43	2596	broad.mit.edu	36	3	116878018	116878018	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:116878018C>A	uc003ebr.1	+	c.607C>A	c.(607-609)CAA>AAA	p.Q203K	GAP43_uc003ebq.1_Missense_Mutation_p.Q167K	NM_002045	NP_002036	P17677	NEUM_HUMAN	growth associated protein 43 isoform 2	167					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of growth|response to wounding	cell junction|growth cone membrane|synapse	calmodulin binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.164)										0.266667	6.888302	7.630381	4	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	116878018	116878018	6499	3	C	A	A	17	17	GAP43	A	3	3
CAND2	23066	broad.mit.edu	36	3	12833661	12833661	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:12833661C>G	uc003bxj.1	+	c.1951C>G	c.(1951-1953)CTG>GTG	p.L651V	CAND2_uc003bxk.1_Missense_Mutation_p.L248V	NM_012298	NP_036430	O75155	CAND2_HUMAN	TBP-interacting protein	744	HEAT 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|transcription activator activity			pancreas(1)	1						GBM(43;676 868 1633 6395 37496)								0.266667	8.693537	9.431309	4	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12833661	12833661	2733	3	C	G	G	28	28	CAND2	G	3	3
PPP2R3A	5523	broad.mit.edu	36	3	137203790	137203790	+	Missense_Mutation	SNP	A	T	T			TCGA-12-0670-01	TCGA-12-0670-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:137203790A>T	uc003eqv.1	+	c.760A>T	c.(760-762)ATA>TTA	p.I254L		NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	254					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|pancreas(1)	3														0.453815	350.529353	350.992893	113	136	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137203790	137203790	12824	3	A	T	T	8	8	PPP2R3A	T	4	4
CPN2	1370	broad.mit.edu	36	3	195544388	195544388	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0670-01	TCGA-12-0670-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:195544388A>C	uc003fts.1	-	c.739T>G	c.(739-741)TGG>GGG	p.W247G	CPN2_uc010hzj.1_Missense_Mutation_p.W247G	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2, 83kD	247	LRR 7.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)										0.5	7.038242	7.038242	4	4	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195544388	195544388	3948	3	A	C	C	6	6	CPN2	C	4	4
NEK10	152110	broad.mit.edu	36	3	27191191	27191191	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:27191191G>A	uc010hfk.1	-	c.579C>T	c.(577-579)GAC>GAT	p.D193D	NEK10_uc003cds.1_Silent_p.D278D|NEK10_uc010hfj.1_Silent_p.D193D|NEK10_uc003cdr.1_Silent_p.D193D	NM_001031741	NP_001026911	Q6ZWH5	NEK10_HUMAN	cDNA FLJ32685 fis, clone TESTI2000154, weakly similar to PUTATIVE SERINE/THREONINE-PROTEIN KINASE D1044.3 IN CHROMOSOME III (EC 2.7.1.-) (NIMA (Never in mitosis gene a)-related kinase 10, isoform CRA_a).	881					protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	11										332				0.414815	337.757704	339.466088	112	158	GG		KEEP	---	---	---	---	capture			Silent	SNP	27191191	27191191	10721	3	G	A	A	40	40	NEK10	A	1	1
VILL	50853	broad.mit.edu	36	3	38013584	38013584	+	Missense_Mutation	SNP	T	A	A			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:38013584T>A	uc003chj.1	+	c.463T>A	c.(463-465)TGG>AGG	p.W155R	VILL_uc003chk.1_Missense_Mutation_p.W155R|VILL_uc003chl.1_Missense_Mutation_p.W155R|VILL_uc010hgu.1_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	155	Gelsolin-like 2.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)								OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.34375	30.314468	31.004915	11	21	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38013584	38013584	17732	3	T	A	A	55	55	VILL	A	4	4
MAP4	4134	broad.mit.edu	36	3	47887511	47887511	+	Silent	SNP	A	G	G			TCGA-12-0670-01	TCGA-12-0670-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47887511A>G	uc003csb.1	-	c.2655T>C	c.(2653-2655)GTT>GTC	p.V885V	MAP4_uc003csc.2_Silent_p.V885V|MAP4_uc003crw.1_Silent_p.V17V|MAP4_uc003crx.1_Silent_p.V145V|MAP4_uc003cry.1_Silent_p.V620V|MAP4_uc003csa.2_Silent_p.V620V|MAP4_uc003crz.2_Non-coding_Transcript|MAP4_uc003csd.1_Silent_p.V620V	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	885					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)										0.5	8.322595	8.322595	3	3	AA		KEEP	---	---	---	---	capture			Silent	SNP	47887511	47887511	9641	3	A	G	G	9	9	MAP4	G	4	4
HYAL1	3373	broad.mit.edu	36	3	50314658	50314658	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:50314658C>G	uc003czp.1	-	c.734G>C	c.(733-735)AGC>ACC	p.S245T	HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czj.1_5'Flank|NAT6_uc003czk.2_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.1_Missense_Mutation_p.S63T|HYAL1_uc003czo.1_Intron|HYAL1_uc003czq.1_Missense_Mutation_p.S245T|HYAL1_uc003czn.1_Intron|HYAL1_uc003czs.1_Missense_Mutation_p.S245T|HYAL1_uc003czr.1_Missense_Mutation_p.S245T|HYAL1_uc003czt.2_Missense_Mutation_p.S245T	NM_033159	NP_695015	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	245						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)									0.531532	192.533261	192.629973	59	52	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50314658	50314658	7763	3	C	G	G	28	28	HYAL1	G	3	3
SRGAP3	9901	broad.mit.edu	36	3	9121407	9121407	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:9121407C>T	uc003brf.1	-	c.380G>A	c.(379-381)CGC>CAC	p.R127H	SRGAP3_uc003brg.1_Missense_Mutation_p.R127H|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.2_Missense_Mutation_p.R127H	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	127					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|urinary_tract(1)|breast(1)	6				OV - Ovarian serous cystadenocarcinoma(96;0.0563)										0.333333	46.760006	48.013638	17	34	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9121407	9121407	15661	3	C	T	T	27	27	SRGAP3	T	1	1
OTUD4	54726	broad.mit.edu	36	4	146282934	146282934	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:146282934C>G	uc003ika.2	-	c.1491G>C	c.(1489-1491)AAG>AAC	p.K497N	OTUD4_uc003ijz.2_Missense_Mutation_p.K496N	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	561							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)													0.428571	87.916653	88.196503	27	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	146282934	146282934	11727	4	C	G	G	28	28	OTUD4	G	3	3
CD38	952	broad.mit.edu	36	4	15450819	15450819	+	Missense_Mutation	SNP	T	A	A			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:15450819T>A	uc003gol.1	+	c.732T>A	c.(730-732)CAT>CAA	p.H244Q	CD38_uc010idz.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	244	Extracellular (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity|transcription activator activity|transcription repressor activity			ovary(2)	2														0.371429	352.19768	356.770169	117	198	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15450819	15450819	3137	4	T	A	A	51	51	CD38	A	4	4
ZFP42	132625	broad.mit.edu	36	4	189161746	189161746	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189161746C>T	uc003izg.1	+	c.791C>T	c.(790-792)ACG>ATG	p.T264M	ZFP42_uc003izh.1_Missense_Mutation_p.T264M|ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc010isp.1_Missense_Mutation_p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	264	C2H2-type 3.				female gonad development|male gonad development|meiosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)										0.42623	76.936173	77.226329	26	35	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	189161746	189161746	18238	4	C	T	T	19	19	ZFP42	T	1	1
ABLIM2	84448	broad.mit.edu	36	4	8072910	8072910	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:8072910T>G	uc003gko.2	-	c.1189A>C	c.(1189-1191)ACC>CCC	p.T397P	ABLIM2_uc003gkm.2_Intron|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Missense_Mutation_p.T397P|ABLIM2_uc003gks.2_Intron|ABLIM2_uc003gku.2_Missense_Mutation_p.T430P|ABLIM2_uc003gkj.2_5'UTR|ABLIM2_uc003gkk.2_Missense_Mutation_p.T60P|ABLIM2_uc003gkl.2_Intron	NM_032432	NP_115808	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	397					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3														1	7.877038	7.653831	2	0	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8072910	8072910	96	4	T	G	G	59	59	ABLIM2	G	4	4
GABRA6	2559	broad.mit.edu	36	5	161048645	161048645	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161048645C>T	uc003lyu.2	+	c.338C>T	c.(337-339)ACG>ATG	p.T113M	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	113	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.T113M(1)		ovary(7)|large_intestine(1)|central_nervous_system(1)	9	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						TCGA Ovarian(5;0.080)			0.278689	85.20071	90.575284	34	88	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	161048645	161048645	6416	5	C	T	T	19	19	GABRA6	T	1	1
GABRP	2568	broad.mit.edu	36	5	170154842	170154842	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:170154842T>G	uc003mau.1	+	c.293T>G	c.(292-294)GTG>GGG	p.V98G	GABRP_uc003mav.1_Missense_Mutation_p.V6G	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	98	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.333333	12.560594	13.106439	7	14	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	170154842	170154842	6425	5	T	G	G	59	59	GABRP	G	4	4
ADAMTS12	81792	broad.mit.edu	36	5	33612792	33612792	+	Silent	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:33612792C>T	uc003jia.1	-	c.3096G>A	c.(3094-3096)CTG>CTA	p.L1032L	ADAMTS12_uc010iuq.1_Silent_p.L947L	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1032	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.289157	231.661822	244.897736	96	236	CC		KEEP	---	---	---	---	capture			Silent	SNP	33612792	33612792	258	5	C	T	T	29	29	ADAMTS12	T	2	2
RXFP3	51289	broad.mit.edu	36	5	33973140	33973140	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:33973140C>T	uc003jic.1	+	c.538C>T	c.(538-540)CGC>TGC	p.R180C		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	180	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0														0.333333	28.343723	29.079881	10	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33973140	33973140	14241	5	C	T	T	27	27	RXFP3	T	1	1
BAT3	7917	broad.mit.edu	36	6	31718652	31718652	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:31718652G>A	uc003nvg.2	-	c.1886C>T	c.(1885-1887)TCT>TTT	p.S629F	BAT3_uc003nvf.2_Missense_Mutation_p.S623F|BAT3_uc003nvh.2_Missense_Mutation_p.S623F|BAT3_uc003nvi.2_Missense_Mutation_p.S623F	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	629	4.|Pro-rich.|4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0										141				0.225806	7.147504	9.365521	7	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31718652	31718652	1343	6	G	A	A	33	33	BAT3	A	2	2
GPR115	221393	broad.mit.edu	36	6	47790239	47790239	+	Silent	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:47790239G>A	uc003oyz.1	+	c.1470G>A	c.(1468-1470)ACG>ACA	p.T490T	GPR115_uc003oza.1_Silent_p.T433T|GPR115_uc003ozb.1_Silent_p.T433T	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115	433	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|breast(1)	4						GBM(22;431 510 9010 26644 32828)								0.387622	356.462376	359.85613	119	188	GG		KEEP	---	---	---	---	capture			Silent	SNP	47790239	47790239	6906	6	G	A	A	39	39	GPR115	A	1	1
GABRR2	2570	broad.mit.edu	36	6	90030885	90030885	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90030885C>T	uc003pnb.2	-	c.1126G>A	c.(1126-1128)GTG>ATG	p.V376M		NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	376	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)										0.5	22.825529	22.825529	7	7	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90030885	90030885	6428	6	C	T	T	19	19	GABRR2	T	1	1
MANEA	79694	broad.mit.edu	36	6	96160780	96160780	+	Silent	SNP	A	T	T			TCGA-12-0670-01	TCGA-12-0670-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:96160780A>T	uc003poo.1	+	c.1167A>T	c.(1165-1167)GCA>GCT	p.A389A		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	389	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)										0.555556	30.749422	30.797658	10	8	AA		KEEP	---	---	---	---	capture			Silent	SNP	96160780	96160780	9604	6	A	T	T	6	6	MANEA	T	4	4
TNFRSF11B	4982	broad.mit.edu	36	8	120006154	120006154	+	Silent	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:120006154C>T	uc003yon.2	-	c.846G>A	c.(844-846)CAG>CAA	p.Q282Q		NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	282	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)							254				0.42517	371.240944	372.692167	125	169	CC		KEEP	---	---	---	---	capture			Silent	SNP	120006154	120006154	16826	8	C	T	T	28	28	TNFRSF11B	T	2	2
JPH1	56704	broad.mit.edu	36	8	75390178	75390178	+	Silent	SNP	C	T	T			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:75390178C>T	uc003yae.1	-	c.612G>A	c.(610-612)GCG>GCA	p.A204A	JPH1_uc003yaf.2_Silent_p.A204A|JPH1_uc003yag.1_Silent_p.A68A	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	204	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)											0.692308	30.579414	31.007809	9	4	CC		KEEP	---	---	---	---	capture			Silent	SNP	75390178	75390178	8264	8	C	T	T	23	23	JPH1	T	1	1
KIF12	113220	broad.mit.edu	36	9	115894477	115894477	+	Silent	SNP	A	G	G			TCGA-12-0670-01	TCGA-12-0670-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:115894477A>G	uc004bif.1	-	c.1359T>C	c.(1357-1359)CCT>CCC	p.P453P	KIF12_uc004big.1_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	586	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.545455	9.291218	9.296407	6	5	AA		KEEP	---	---	---	---	capture			Silent	SNP	115894477	115894477	8584	9	A	G	G	11	11	KIF12	G	4	4
DBH	1621	broad.mit.edu	36	9	135498419	135498419	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135498419G>A	uc004cel.1	+	c.808G>A	c.(808-810)GCC>ACC	p.A270T		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta-hydroxylase precursor	270	Intragranular (Potential).				hormone biosynthetic process|oxidation-reduction process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)									0.426966	107.123023	107.538717	38	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135498419	135498419	4421	9	G	A	A	38	38	DBH	A	1	1
SLC28A3	64078	broad.mit.edu	36	9	86092855	86092855	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:86092855G>C	uc010mpz.1	-	c.1208C>G	c.(1207-1209)GCT>GGT	p.A403G	SLC28A3_uc004anu.1_Missense_Mutation_p.A403G|SLC28A3_uc010mqa.1_5'Flank	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	403	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			ovary(1)|pancreas(1)	2						Ovarian(106;425 1539 34835 42413 43572)								0.227273	8.461024	9.966771	5	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86092855	86092855	15030	9	G	C	C	34	34	SLC28A3	C	3	3
DDX26B	203522	broad.mit.edu	36	X	134517764	134517764	+	Silent	SNP	T	C	C			TCGA-12-0670-01	TCGA-12-0670-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:134517764T>C	uc004eyw.2	+	c.1065T>C	c.(1063-1065)TTT>TTC	p.F355F		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	355											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.26087	17.839639	19.02987	6	17	TT		KEEP	---	---	---	---	capture			Silent	SNP	134517764	134517764	4524	23	T	C	C	63	63	DDX26B	C	4	4
KLF8	11279	broad.mit.edu	36	X	56313439	56313439	+	Silent	SNP	C	A	A			TCGA-12-0670-01	TCGA-12-0670-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:56313439C>A	uc004dur.1	+	c.858C>A	c.(856-858)ACC>ACA	p.T286T	KLF8_uc010nkh.1_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8	286	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.319149	41.007274	42.37403	15	32	CC		KEEP	---	---	---	---	capture			Silent	SNP	56313439	56313439	8664	23	C	A	A	21	21	KLF8	A	3	3
SHROOM2	357	broad.mit.edu	36	X	9822550	9822550	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0670-01	TCGA-12-0670-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:9822550G>C	uc004csu.1	+	c.602G>C	c.(601-603)GGC>GCC	p.G201A		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	201					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	6		Hepatocellular(5;0.000888)												0.258065	7.872304	9.626149	8	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9822550	9822550	14789	23	G	C	C	42	42	SHROOM2	C	3	3
HCN4	10021	broad.mit.edu	36	15	71446952	71446956	+	Frame_Shift_Del	DEL	TTCTG	-	-			TCGA-12-0670-01	TCGA-12-0670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:71446952_71446956delTTCTG	uc002avp.1	-	c.709_713delCAGAA	c.(709-714)CAGAAAfs	p.Q237fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	237_238	Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)										0.38			27	44				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	71446952	71446956	7281	15	TTCTG	-	-	64	64	HCN4	-	5	5
KRT23	25984	broad.mit.edu	36	17	36346262	36346263	+	Frame_Shift_Ins	INS	-	C	C			TCGA-12-0670-01	TCGA-12-0670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36346262_36346263insC	uc002hvm.1	-	c.119_120insG	c.(118-120)GGAfs	p.G40fs	KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.1_Frame_Shift_Ins_p.G40fs|KRT23_uc002hvn.1_Frame_Shift_Ins_p.G40fs	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	40	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)												0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	36346262	36346263	8775	17	-	C	C	54	54	KRT23	C	5	5
KIDINS220	57498	broad.mit.edu	36	2	8855815	8855816	+	Frame_Shift_Ins	INS	-	T	T			TCGA-12-0670-01	TCGA-12-0670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:8855815_8855816insT	uc002qzc.1	-	c.966_967insA	c.(964-969)TTACAGfs	p.L322fs	KIDINS220_uc002qzd.1_Frame_Shift_Ins_p.L280fs|KIDINS220_uc002qzf.2_Frame_Shift_Ins_p.L323fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	322_323	Cytoplasmic (Potential).|ANK 10.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.39			24	38				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	8855815	8855816	8582	2	-	T	T	48	48	KIDINS220	T	5	5
ACSL6	23305	broad.mit.edu	36	5	131375116	131375117	+	Frame_Shift_Ins	INS	-	C	C			TCGA-12-0670-01	TCGA-12-0670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:131375116_131375117insC	uc003kvx.1	-	c.29_30insG	c.(28-30)GGCfs	p.G10fs	ACSL6_uc003kvy.1_Frame_Shift_Ins_p.G10fs|ACSL6_uc010jdo.1_Intron|ACSL6_uc003kvz.1_Intron|ACSL6_uc003kwa.1_Intron|ACSL6_uc003kwc.1_Intron|ACSL6_uc003kwd.1_Intron	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	Error:Variant_position_missing_in_Q9UKU0_after_alignment					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)							264				0.38			3	5				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	131375116	131375117	182	5	-	C	C	34	34	ACSL6	C	5	5
PCDH1	5097	broad.mit.edu	36	5	141213980	141213981	+	Frame_Shift_Ins	INS	-	G	G			TCGA-12-0670-01	TCGA-12-0670-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141213980_141213981insG	uc003llp.1	-	c.3524_3525insC	c.(3523-3525)CCGfs	p.P1175fs		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	Error:Variant_position_missing_in_Q08174_after_alignment					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		Ovarian(132;1609 1739 4190 14731 45037)								0.33			4	8				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	141213980	141213981	11926	5	-	G	G	23	23	PCDH1	G	5	5
