Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
MRC1	4360	broad.mit.edu	37	10	17949553	17949553	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17949553C>T	uc001ipk.2	+	c.3917C>T	c.(3916-3918)ACG>ATG	p.T1306M		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	1306	Extracellular (Potential).|C-type lectin 8.				receptor-mediated endocytosis	integral to plasma membrane	mannose binding|receptor activity				0						GBM(115;1153 1594 28187 28781 35884)								0.333333	30.578757	31.469042	12	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17949553	17949553	10148	10	C	T	T	T	247	19	MRC1	1	1
ZNF488	118738	broad.mit.edu	37	10	48371205	48371205	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48371205C>T	uc001jex.2	+	c.673C>T	c.(673-675)CAG>TAG	p.Q225*	ZNF488_uc001jey.2_Nonsense_Mutation_p.Q118*	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	zinc finger protein 488	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.381579	81.895414	82.81538	29	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48371205	48371205	18534	10	C	T	T	T	221	17	ZNF488	5	2
PHYHIPL	84457	broad.mit.edu	37	10	60994229	60994229	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:60994229A>G	uc001jkk.3	+	c.272A>G	c.(271-273)GAG>GGG	p.E91G	PHYHIPL_uc001jkl.3_Missense_Mutation_p.E45G|PHYHIPL_uc001jkm.3_Missense_Mutation_p.E65G	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	91	Fibronectin type-III.										0														0.125	5.827244	11.376447	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60994229	60994229	12291	10	A	G	G	G	143	11	PHYHIPL	4	4
ITIH5	80760	broad.mit.edu	37	10	7608274	7608274	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7608274T>C	uc001ijq.2	-	c.2246A>G	c.(2245-2247)AAC>AGC	p.N749S	ITIH5_uc001ijp.2_Missense_Mutation_p.N535S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	749					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.176471	5.317195	6.993149	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7608274	7608274	8211	10	T	C	C	C	780	60	ITIH5	4	4
HTR7	3363	broad.mit.edu	37	10	92508872	92508872	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:92508872C>A	uc001kha.2	-	c.1019G>T	c.(1018-1020)TGG>TTG	p.W340L	HTR7_uc001kgz.2_Missense_Mutation_p.W340L|HTR7_uc001khb.2_Missense_Mutation_p.W340L	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	340	Helical; Name=6; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)									0.27907	31.893819	33.774062	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92508872	92508872	7752	10	C	A	A	A	273	21	HTR7	2	2
PDE6C	5146	broad.mit.edu	37	10	95395390	95395390	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95395390C>A	uc001kiu.3	+	c.1406C>A	c.(1405-1407)TCC>TAC	p.S469Y		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	469					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)	3		Colorectal(252;0.123)												0.339623	47.026693	48.235172	18	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95395390	95395390	12068	10	C	A	A	A	390	30	PDE6C	2	2
CASP5	838	broad.mit.edu	37	11	104877974	104877974	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:104877974T>A	uc010ruz.1	-	c.308A>T	c.(307-309)CAC>CTC	p.H103L	CASP5_uc010rva.1_Missense_Mutation_p.H90L|CASP5_uc010rvb.1_Missense_Mutation_p.H32L|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	caspase 5 isoform f precursor	90	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)										0.146341	20.010047	29.965225	12	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104877974	104877974	2793	11	T	A	A	A	767	59	CASP5	3	3
GRIA4	2893	broad.mit.edu	37	11	105797526	105797526	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:105797526C>T	uc001pix.2	+	c.1907C>T	c.(1906-1908)TCA>TTA	p.S636L	GRIA4_uc001piw.2_Missense_Mutation_p.S636L	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	636	Helical; (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)									0.10989	10.099684	23.793424	10	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105797526	105797526	7048	11	C	T	T	T	377	29	GRIA4	2	2
ARHGAP20	57569	broad.mit.edu	37	11	110561279	110561279	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:110561279G>T	uc001pkz.1	-	c.179C>A	c.(178-180)CCT>CAT	p.P60H	ARHGAP20_uc001pky.1_Missense_Mutation_p.P37H|ARHGAP20_uc009yyb.1_Missense_Mutation_p.P24H|ARHGAP20_uc001pla.1_Missense_Mutation_p.P24H	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	60					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)										0.071429	-2.310644	8.258299	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110561279	110561279	881	11	G	T	T	T	455	35	ARHGAP20	2	2
DSCAML1	57453	broad.mit.edu	37	11	117403175	117403175	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117403175C>G	uc001prh.1	-	c.754G>C	c.(754-756)GCC>CCC	p.A252P	DSCAML1_uc001pri.1_Missense_Mutation_p.A56P	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	192	Extracellular (Potential).|Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.0625	-3.521363	9.215631	4	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117403175	117403175	4953	11	C	G	G	G	351	27	DSCAML1	3	3
ARHGEF12	23365	broad.mit.edu	37	11	120351059	120351059	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120351059A>G	uc001pxl.1	+	c.4157A>G	c.(4156-4158)GAA>GGA	p.E1386G	ARHGEF12_uc009zat.2_Missense_Mutation_p.E1367G|ARHGEF12_uc009zau.1_Missense_Mutation_p.E1283G	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1386					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)						1000				0.064516	-2.65087	9.570282	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120351059	120351059	911	11	A	G	G	G	117	9	ARHGEF12	4	4
KRTAP5-1	387264	broad.mit.edu	37	11	1605902	1605902	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1605902G>T	uc001ltu.1	-	c.578C>A	c.(577-579)TCC>TAC	p.S193Y	LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	193	8 X 4 AA repeats of C-C-X-P.					keratin filament					0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.185185	8.862535	11.370311	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1605902	1605902	8880	11	G	T	T	T	533	41	KRTAP5-1	2	2
KRTAP5-5	439915	broad.mit.edu	37	11	1651151	1651151	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1651151C>T	uc001lty.2	+	c.81C>T	c.(79-81)GGC>GGT	p.G27G		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	27						keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.059524	-8.695671	8.381025	5	79	KEEP	---	---	---	---	capture		Silent	SNP	1651151	1651151	8886	11	C	T	T	T	353	28	KRTAP5-5	2	2
SERGEF	26297	broad.mit.edu	37	11	18028280	18028280	+	Silent	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18028280G>A	uc001mnm.2	-	c.210C>T	c.(208-210)CTC>CTT	p.L70L	SERGEF_uc009yhd.2_Non-coding_Transcript|SERGEF_uc001mnn.2_Silent_p.L70L|SERGEF_uc010rcz.1_5'UTR|SERGEF_uc001mno.1_5'UTR	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	deafness locus associated putative guanine	70	RCC1 2.				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1														0.131783	26.991108	43.981173	17	112	KEEP	---	---	---	---	capture		Silent	SNP	18028280	18028280	14565	11	G	A	A	A	418	33	SERGEF	2	2
NELL1	4745	broad.mit.edu	37	11	20699489	20699489	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20699489G>T	uc009yid.2	+	c.151G>T	c.(151-153)GGG>TGG	p.G51W	NELL1_uc001mqe.2_Missense_Mutation_p.G23W|NELL1_uc001mqf.2_Missense_Mutation_p.G23W|NELL1_uc010rdo.1_Missense_Mutation_p.G23W|NELL1_uc010rdp.1_5'UTR	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	23					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.153846	17.80404	25.259716	10	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20699489	20699489	10732	11	G	T	T	T	611	47	NELL1	2	2
DCDC1	341019	broad.mit.edu	37	11	31086155	31086155	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31086155T>A	uc001msu.1	-	c.1309A>T	c.(1309-1311)AGC>TGC	p.S437C		DCDC5		P59894	DCDC1_HUMAN	SubName: Full=Putative uncharacterized protein ENSP00000343496;	14					intracellular signal transduction						0	Lung SC(675;0.225)													0.090909	4.001188	15.133506	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31086155	31086155	4455	11	T	A	A	A	703	55	DCDC1	3	3
OR51S1	119692	broad.mit.edu	37	11	4870218	4870218	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4870218A>G	uc010qyo.1	-	c.221T>C	c.(220-222)CTT>CCT	p.L74P		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.113208	8.811181	16.635025	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4870218	4870218	11515	11	A	G	G	G	39	3	OR51S1	4	4
OR51S1	119692	broad.mit.edu	37	11	4870358	4870358	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4870358G>T	uc010qyo.1	-	c.81C>A	c.(79-81)GGC>GGA	p.G27G		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	27	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.129032	10.539701	18.779415	8	54	KEEP	---	---	---	---	capture		Silent	SNP	4870358	4870358	11515	11	G	T	T	T	535	42	OR51S1	2	2
RNH1	6050	broad.mit.edu	37	11	499889	499889	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:499889G>A	uc001lpk.1	-	c.383C>T	c.(382-384)GCG>GTG	p.A128V	RNH1_uc001lpl.1_Missense_Mutation_p.A128V|RNH1_uc001lpm.1_Missense_Mutation_p.A128V|RNH1_uc001lpn.1_Missense_Mutation_p.A128V|RNH1_uc001lpo.1_Missense_Mutation_p.A128V|RNH1_uc009ybw.1_Non-coding_Transcript|RNH1_uc001lpp.1_Missense_Mutation_p.A128V|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.A128V|RNH1_uc001lpr.1_Missense_Mutation_p.A128V|RNH1_uc001lps.1_Missense_Mutation_p.A128V	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	128	LRR 4.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.085714	0.299838	6.388855	3	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	499889	499889	13983	11	G	A	A	A	494	38	RNH1	1	1
HBE1	3046	broad.mit.edu	37	11	5290728	5290728	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5290728C>A	uc001mal.1	-	c.271G>T	c.(271-273)GAG>TAG	p.E91*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Nonsense_Mutation_p.E91*	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	91					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.231707	40.41984	45.899272	19	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5290728	5290728	7262	11	C	A	A	A	377	29	HBE1	5	2
OR4C15	81309	broad.mit.edu	37	11	55322518	55322518	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55322518C>A	uc010rig.1	+	c.736C>A	c.(736-738)CAC>AAC	p.H246N		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.121212	5.675678	10.31663	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55322518	55322518	11454	11	C	A	A	A	377	29	OR4C15	2	2
OR5T3	390154	broad.mit.edu	37	11	56020314	56020314	+	Silent	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56020314T>A	uc010rjd.1	+	c.639T>A	c.(637-639)CCT>CCA	p.P213P		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	213	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)													0.125	30.3316	57.887988	25	175	KEEP	---	---	---	---	capture		Silent	SNP	56020314	56020314	11593	11	T	A	A	A	691	54	OR5T3	3	3
OR52N5	390075	broad.mit.edu	37	11	5799626	5799626	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5799626A>T	uc010qzn.1	-	c.239T>A	c.(238-240)CTC>CAC	p.L80H	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	80	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)										0.123288	7.333138	17.524461	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5799626	5799626	11540	11	A	T	T	T	143	11	OR52N5	3	3
OR52N1	79473	broad.mit.edu	37	11	5809935	5809935	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5809935T>A	uc010qzo.1	-	c.112A>T	c.(112-114)AGC>TGC	p.S38C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)										0.088235	0.597573	6.428395	3	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5809935	5809935	11537	11	T	A	A	A	715	55	OR52N1	3	3
OR4D10	390197	broad.mit.edu	37	11	59245659	59245659	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59245659C>A	uc001nnz.1	+	c.757C>A	c.(757-759)CCC>ACC	p.P253T		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.098485	8.223184	29.385825	13	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59245659	59245659	11461	11	C	A	A	A	338	26	OR4D10	2	2
MS4A3	932	broad.mit.edu	37	11	59828639	59828639	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59828639C>T	uc001nom.2	+	c.6C>T	c.(4-6)GCC>GCT	p.A2A	MS4A3_uc001non.2_Silent_p.A2A|MS4A3_uc001noo.2_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member	2	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			ovary(2)	2		all_epithelial(135;0.245)												0.106383	6.049111	13.270899	5	42	KEEP	---	---	---	---	capture		Silent	SNP	59828639	59828639	10254	11	C	T	T	T	301	24	MS4A3	2	2
INCENP	3619	broad.mit.edu	37	11	61897387	61897387	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61897387G>T	uc001nsw.1	+	c.388G>T	c.(388-390)GCA>TCA	p.A130S	INCENP_uc009ynv.2_Missense_Mutation_p.A130S|INCENP_uc009ynw.1_Missense_Mutation_p.A130S|INCENP_uc001nsx.1_Missense_Mutation_p.A130S	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	130					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1														0.142857	11.965804	18.853226	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61897387	61897387	8034	11	G	T	T	T	598	46	INCENP	2	2
RTN3	10313	broad.mit.edu	37	11	63488495	63488495	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63488495G>C	uc001nxq.2	+	c.2521G>C	c.(2521-2523)GAC>CAC	p.D841H	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.D822H|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.D729H|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	841					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1														0.170213	16.357972	21.243834	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63488495	63488495	14207	11	G	C	C	C	429	33	RTN3	3	3
FRMD8	83786	broad.mit.edu	37	11	65161533	65161533	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65161533G>A	uc001odu.3	+	c.377G>A	c.(376-378)CGA>CAA	p.R126Q	FRMD8_uc009yqj.2_Missense_Mutation_p.R70Q|FRMD8_uc010rof.1_Missense_Mutation_p.R92Q	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	126	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2														0.16	7.586964	10.336488	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65161533	65161533	6306	11	G	A	A	A	481	37	FRMD8	1	1
OR10A6	390093	broad.mit.edu	37	11	7949615	7949615	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7949615C>G	uc010rbh.1	-	c.595G>C	c.(595-597)GCA>CCA	p.A199P		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.130435	9.474864	15.538262	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7949615	7949615	11300	11	C	G	G	G	325	25	OR10A6	3	3
DLG2	1740	broad.mit.edu	37	11	83252726	83252726	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:83252726T>A	uc001pak.2	-	c.2116A>T	c.(2116-2118)AGG>TGG	p.R706W	DLG2_uc001pai.2_Missense_Mutation_p.R498W|DLG2_uc010rsy.1_Missense_Mutation_p.R568W|DLG2_uc001paj.2_Missense_Mutation_p.R601W|DLG2_uc010rsz.1_Missense_Mutation_p.R601W|DLG2_uc010rta.1_Missense_Mutation_p.R601W|DLG2_uc010rtb.1_Missense_Mutation_p.R568W|DLG2_uc010rsw.1_Missense_Mutation_p.R83W|DLG2_uc010rsx.1_Missense_Mutation_p.R82W	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	601	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.177778	16.196153	20.578207	8	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83252726	83252726	4735	11	T	A	A	A	700	54	DLG2	3	3
NAALAD2	10003	broad.mit.edu	37	11	89883723	89883723	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89883723G>C	uc001pdf.3	+	c.557G>C	c.(556-558)TGT>TCT	p.C186S	NAALAD2_uc009yvx.2_Missense_Mutation_p.C186S|NAALAD2_uc009yvy.2_Missense_Mutation_p.C186S|NAALAD2_uc001pdd.2_Missense_Mutation_p.C186S|NAALAD2_uc001pde.2_Missense_Mutation_p.C186S	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	186	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.118644	8.032257	16.601208	7	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89883723	89883723	10523	11	G	C	C	C	624	48	NAALAD2	3	3
GNPTAB	79158	broad.mit.edu	37	12	102164889	102164889	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:102164889T>A	uc001tit.2	-	c.818A>T	c.(817-819)AAC>ATC	p.N273I	GNPTAB_uc001tiu.1_Missense_Mutation_p.N273I	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	273					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)	1														0.051948	-7.850445	8.484629	4	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102164889	102164889	6814	12	T	A	A	A	780	60	GNPTAB	3	3
STAB2	55576	broad.mit.edu	37	12	103988241	103988241	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:103988241A>G	uc001tjw.2	+	c.284A>G	c.(283-285)TAT>TGT	p.Y95C		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	95	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.127451	19.427329	33.24554	13	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103988241	103988241	15756	12	A	G	G	G	208	16	STAB2	4	4
ACACB	32	broad.mit.edu	37	12	109694035	109694035	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109694035G>T	uc001tob.2	+	c.6257G>T	c.(6256-6258)CGA>CTA	p.R2086L	ACACB_uc001toc.2_Missense_Mutation_p.R2086L|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.2_Non-coding_Transcript|ACACB_uc010sxm.1_Missense_Mutation_p.R752L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2086	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.4	27.945699	28.163979	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109694035	109694035	108	12	G	T	T	T	481	37	ACACB	1	1
STX2	2054	broad.mit.edu	37	12	131311793	131311793	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:131311793C>G	uc001uio.2	-	c.50G>C	c.(49-51)GGA>GCA	p.G17A	STX2_uc001uip.2_Missense_Mutation_p.G17A|STX2_uc010tbj.1_Missense_Mutation_p.G17A	NM_194356	NP_919337	P32856	STX2_HUMAN	syntaxin 2 isoform 2	17	Cytoplasmic (Potential).				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)										0.244898	32.285179	35.184636	12	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131311793	131311793	15865	12	C	G	G	G	390	30	STX2	3	3
GOLGA3	2802	broad.mit.edu	37	12	133375049	133375049	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133375049G>T	uc001ukz.1	-	c.1815C>A	c.(1813-1815)ACC>ACA	p.T605T	GOLGA3_uc001ula.1_Silent_p.T605T|GOLGA3_uc001ulb.2_Silent_p.T605T	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	605	Gln-rich.|Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)										0.114286	8.754883	19.01783	8	62	KEEP	---	---	---	---	capture		Silent	SNP	133375049	133375049	6823	12	G	T	T	T	548	43	GOLGA3	2	2
ABCC9	10060	broad.mit.edu	37	12	22068699	22068699	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22068699T>C	uc001rfh.2	-	c.719A>G	c.(718-720)AAA>AGA	p.K240R	ABCC9_uc001rfi.1_Missense_Mutation_p.K240R|ABCC9_uc001rfj.1_Missense_Mutation_p.K240R	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	240	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.164557	31.359115	39.770103	13	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22068699	22068699	60	12	T	C	C	C	832	64	ABCC9	4	4
ST8SIA1	6489	broad.mit.edu	37	12	22354578	22354578	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22354578C>A	uc001rfo.3	-	c.979G>T	c.(979-981)GAA>TAA	p.E327*	ST8SIA1_uc009zix.2_Nonsense_Mutation_p.E184*	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	327	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3														0.1125	5.129675	16.993682	9	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22354578	22354578	15749	12	C	A	A	A	390	30	ST8SIA1	5	2
OVCH1	341350	broad.mit.edu	37	12	29596311	29596311	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29596311G>T	uc001rix.1	-	c.3140C>A	c.(3139-3141)CCA>CAA	p.P1047Q		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	1047					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.142857	29.602258	44.222115	17	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29596311	29596311	11736	12	G	T	T	T	611	47	OVCH1	2	2
OVCH1	341350	broad.mit.edu	37	12	29596369	29596369	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29596369T>G	uc001rix.1	-	c.3082A>C	c.(3082-3084)ATG>CTG	p.M1028L		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	1028					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.088496	5.673219	25.008439	10	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29596369	29596369	11736	12	T	G	G	G	650	50	OVCH1	4	4
OVCH1	341350	broad.mit.edu	37	12	29630272	29630272	+	Splice_Site_SNP	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29630272A>T	uc001rix.1	-	c.1246_splice	c.e11+1	p.G416_splice		NM_183378	NP_899234			ovochymase 1 precursor						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.058824	-8.01911	12.785783	6	96	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	29630272	29630272	11736	12	A	T	T	T	78	6	OVCH1	5	3
PKP2	5318	broad.mit.edu	37	12	33049567	33049567	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33049567G>T	uc001rlj.3	-	c.99C>A	c.(97-99)CCC>CCA	p.P33P	PKP2_uc001rlk.3_Silent_p.P33P|PKP2_uc010skj.1_Silent_p.P33P	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	33					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.461538	18.348583	18.365347	6	7	KEEP	---	---	---	---	capture		Silent	SNP	33049567	33049567	12410	12	G	T	T	T	444	35	PKP2	2	2
COL2A1	1280	broad.mit.edu	37	12	48369172	48369172	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48369172G>T	uc001rqu.2	-	c.3814C>A	c.(3814-3816)CCC>ACC	p.P1272T	COL2A1_uc001rqt.2_Missense_Mutation_p.P53T|COL2A1_uc009zkw.2_Non-coding_Transcript|COL2A1_uc001rqv.2_Missense_Mutation_p.P1203T	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1272	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	extracellular matrix structural constituent conferring tensile strength|identical protein binding|platelet-derived growth factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)									0.283019	37.026033	39.253792	15	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48369172	48369172	3825	12	G	T	T	T	559	43	COL2A1	2	2
TIMELESS	8914	broad.mit.edu	37	12	56827699	56827699	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56827699C>A	uc001slf.2	-	c.109G>T	c.(109-111)GAT>TAT	p.D37Y	TIMELESS_uc001slg.2_Missense_Mutation_p.D37Y	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	37					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8														0.052632	-8.257174	7.809477	4	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56827699	56827699	16433	12	C	A	A	A	390	30	TIMELESS	2	2
PTPRB	5787	broad.mit.edu	37	12	70949913	70949913	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70949913T>C	uc001swc.3	-	c.4730A>G	c.(4729-4731)CAA>CGA	p.Q1577R	PTPRB_uc001swb.3_Missense_Mutation_p.Q1359R|PTPRB_uc010sto.1_Missense_Mutation_p.Q1269R|PTPRB_uc010stp.1_Missense_Mutation_p.Q1269R|PTPRB_uc001swa.3_Missense_Mutation_p.Q1489R	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1359	Fibronectin type-III 16.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.230769	6.918203	7.781864	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70949913	70949913	13253	12	T	C	C	C	819	63	PTPRB	4	4
C1R	715	broad.mit.edu	37	12	7188193	7188193	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7188193C>A	uc010sfy.1	-	c.1761G>T	c.(1759-1761)CTG>CTT	p.L587L		NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	587	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.15	5.111106	7.460727	3	17	KEEP	---	---	---	---	capture		Silent	SNP	7188193	7188193	2039	12	C	A	A	A	262	21	C1R	2	2
LRRIQ1	84125	broad.mit.edu	37	12	85459121	85459121	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85459121C>T	uc001tac.2	+	c.2473C>T	c.(2473-2475)CTT>TTT	p.L825F	LRRIQ1_uc001tab.1_Missense_Mutation_p.L825F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	825	LRR 1.									ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(134;0.212)										0.125	10.887366	18.579139	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85459121	85459121	9405	12	C	T	T	T	312	24	LRRIQ1	2	2
ANKS1B	56899	broad.mit.edu	37	12	99837486	99837486	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:99837486C>G	uc001tge.1	-	c.1540G>C	c.(1540-1542)GCC>CCC	p.A514P	ANKS1B_uc001tgf.1_Missense_Mutation_p.A94P|ANKS1B_uc009ztt.1_Missense_Mutation_p.A480P	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	514						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)										0.1875	22.348206	26.735711	9	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99837486	99837486	697	12	C	G	G	G	325	25	ANKS1B	3	3
VPS36	51028	broad.mit.edu	37	13	53010452	53010452	+	Silent	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53010452G>C	uc001vgs.2	-	c.324C>G	c.(322-324)CTC>CTG	p.L108L	VPS36_uc001vgq.2_Silent_p.L50L	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36	108	GLUE.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding				0		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)										0.333333	19.614741	20.132986	7	14	KEEP	---	---	---	---	capture		Silent	SNP	53010452	53010452	17771	13	G	C	C	C	418	33	VPS36	3	3
GPC5	2262	broad.mit.edu	37	13	93518549	93518549	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:93518549A>T	uc010tif.1	+	c.1576A>T	c.(1576-1578)ATG>TTG	p.M526L		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	526						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)	2	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)												0.089286	2.740015	12.27115	5	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93518549	93518549	6875	13	A	T	T	T	208	16	GPC5	3	3
EML1	2009	broad.mit.edu	37	14	100402407	100402407	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100402407T>A	uc001ygr.2	+	c.2008T>A	c.(2008-2010)TAT>AAT	p.Y670N	EML1_uc010tww.1_Missense_Mutation_p.Y639N|EML1_uc001ygs.2_Missense_Mutation_p.Y651N	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	651	WD 8.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|ovary(1)|pancreas(1)	4		Melanoma(154;0.0879)|all_epithelial(191;0.216)												0.071429	-1.745956	8.853721	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100402407	100402407	5288	14	T	A	A	A	689	53	EML1	3	3
AHNAK2	113146	broad.mit.edu	37	14	105412931	105412931	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105412931C>G	uc010axc.1	-	c.8857G>C	c.(8857-8859)GCA>CCA	p.A2953P	AHNAK2_uc001ypx.2_Missense_Mutation_p.A2853P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2953						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.115044	32.659626	65.760191	26	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105412931	105412931	418	14	C	G	G	G	364	28	AHNAK2	3	3
KIAA0391	9692	broad.mit.edu	37	14	35593129	35593129	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:35593129G>T	uc001wsy.1	+	c.678G>T	c.(676-678)TGG>TGT	p.W226C	KIAA0391_uc010tps.1_Missense_Mutation_p.W131C|KIAA0391_uc001wsz.1_Missense_Mutation_p.W226C|KIAA0391_uc001wta.2_Non-coding_Transcript|KIAA0391_uc001wtb.1_Missense_Mutation_p.W226C|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	mitochondrial RNase P protein 3 precursor	226					tRNA processing	mitochondrion					0	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)										0.183673	15.249152	19.852163	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35593129	35593129	8479	14	G	T	T	T	533	41	KIAA0391	2	2
PNN	5411	broad.mit.edu	37	14	39650219	39650219	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39650219G>C	uc001wuw.3	+	c.1306G>C	c.(1306-1308)GAT>CAT	p.D436H		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	436	Glu-rich.				cell adhesion|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)										0.104167	6.837749	14.321266	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39650219	39650219	12587	14	G	C	C	C	429	33	PNN	3	3
LRFN5	145581	broad.mit.edu	37	14	42368149	42368149	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42368149G>T	uc001wvm.2	+	c.2128G>T	c.(2128-2130)GTC>TTC	p.V710F	LRFN5_uc010ana.2_3'UTR	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	710	Cytoplasmic (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.136986	18.10878	27.410743	10	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42368149	42368149	9314	14	G	T	T	T	624	48	LRFN5	2	2
NID2	22795	broad.mit.edu	37	14	52508881	52508881	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52508881C>A	uc001wzo.2	-	c.1767G>T	c.(1765-1767)CTG>CTT	p.L589L	NID2_uc010tqs.1_Silent_p.L589L|NID2_uc010tqt.1_Silent_p.L589L|NID2_uc001wzp.2_Silent_p.L589L	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	589	Nidogen G2 beta-barrel.				bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.153285	39.803512	55.546842	21	116	KEEP	---	---	---	---	capture		Silent	SNP	52508881	52508881	10816	14	C	A	A	A	210	17	NID2	2	2
DACT1	51339	broad.mit.edu	37	14	59112816	59112816	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59112816G>A	uc001xdw.2	+	c.1475G>A	c.(1474-1476)AGA>AAA	p.R492K	DACT1_uc010trv.1_Missense_Mutation_p.R211K|DACT1_uc001xdx.2_Missense_Mutation_p.R455K|DACT1_uc010trw.1_Missense_Mutation_p.R211K	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	492					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.120879	15.963264	28.781994	11	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59112816	59112816	4388	14	G	A	A	A	429	33	DACT1	2	2
C14orf39	317761	broad.mit.edu	37	14	60903630	60903630	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:60903630A>G	uc001xez.3	-	c.1697T>C	c.(1696-1698)ATA>ACA	p.I566T	C14orf39_uc010apo.2_Missense_Mutation_p.I277T	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	566										ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0448)										0.129213	29.712955	53.815653	23	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60903630	60903630	1822	14	A	G	G	G	208	16	C14orf39	4	4
SIX4	51804	broad.mit.edu	37	14	61180433	61180433	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:61180433T>C	uc001xfc.2	-	c.2038A>G	c.(2038-2040)ATG>GTG	p.M680V		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	680						nucleus	transcription regulator activity			breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)						127				0.096774	2.106893	7.154494	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61180433	61180433	14844	14	T	C	C	C	637	49	SIX4	4	4
PLEKHG3	26030	broad.mit.edu	37	14	65194383	65194383	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65194383A>G	uc001xhp.2	+	c.34A>G	c.(34-36)AGC>GGC	p.S12G	PLEKHG3_uc001xhn.1_Missense_Mutation_p.S12G|PLEKHG3_uc001xho.1_Missense_Mutation_p.S12G|PLEKHG3_uc010aqh.1_5'Flank	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	12	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)										0.176471	6.114745	7.791684	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65194383	65194383	12496	14	A	G	G	G	91	7	PLEKHG3	4	4
MAP3K9	4293	broad.mit.edu	37	14	71197312	71197312	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71197312A>T	uc001xml.2	-	c.3142T>A	c.(3142-3144)TCC>ACC	p.S1048T	MAP3K9_uc010ttk.1_Missense_Mutation_p.S762T|MAP3K9_uc001xmk.2_Missense_Mutation_p.S767T|MAP3K9_uc001xmm.2_Missense_Mutation_p.S1034T	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	1034	Ser-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GBM(114;411 1587 13539 28235 50070)				190				0.076923	-0.936632	8.589195	4	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71197312	71197312	9640	14	A	T	T	T	143	11	MAP3K9	3	3
SIPA1L1	26037	broad.mit.edu	37	14	72191385	72191385	+	Splice_Site_SNP	SNP	A	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72191385A>C	uc001xms.2	+	c.4512_splice	c.e17-2	p.K1504_splice	SIPA1L1_uc001xmt.2_Splice_Site_SNP_p.K1483_splice|SIPA1L1_uc001xmu.2_Splice_Site_SNP_p.K1483_splice|SIPA1L1_uc001xmv.2_Splice_Site_SNP_p.K1504_splice|SIPA1L1_uc010ttm.1_Splice_Site_SNP_p.K958_splice|SIPA1L1_uc001xmw.2_Splice_Site_SNP_p.K269_splice	NM_015556	NP_056371			signal-induced proliferation-associated 1 like						actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.142857	7.18827	10.623626	4	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	72191385	72191385	14824	14	A	C	C	C	91	7	SIPA1L1	5	4
ABCD4	5826	broad.mit.edu	37	14	74759024	74759024	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74759024C>A	uc001xpr.2	-	c.1084G>T	c.(1084-1086)GAG>TAG	p.E362*	ABCD4_uc001xps.2_Nonsense_Mutation_p.E203*|ABCD4_uc001xpt.2_Nonsense_Mutation_p.E203*|ABCD4_uc010tur.1_Nonsense_Mutation_p.E258*|ABCD4_uc001xpu.2_Nonsense_Mutation_p.E99*|ABCD4_uc001xpv.2_Non-coding_Transcript	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	362						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00153)										0.09589	0.630863	12.606934	7	66	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	74759024	74759024	64	14	C	A	A	A	403	31	ABCD4	5	1
NRXN3	9369	broad.mit.edu	37	14	79175640	79175640	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:79175640C>A	uc001xun.2	+	c.183C>A	c.(181-183)GGC>GGA	p.G61G	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.G195G	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	434	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)										0.12069	10.030602	18.171594	7	51	KEEP	---	---	---	---	capture		Silent	SNP	79175640	79175640	11072	14	C	A	A	A	340	27	NRXN3	1	1
EML5	161436	broad.mit.edu	37	14	89154817	89154817	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:89154817C>A	uc001xxg.2	-	c.2540G>T	c.(2539-2541)GGG>GTG	p.G847V	EML5_uc001xxh.1_Intron	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	847	WD 13.					cytoplasm|microtubule				ovary(3)	3														0.108696	8.703995	29.717348	15	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89154817	89154817	5292	14	C	A	A	A	286	22	EML5	2	2
TDP1	55775	broad.mit.edu	37	14	90437534	90437534	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90437534G>T	uc001xxy.2	+	c.675G>T	c.(673-675)CTG>CTT	p.L225L	TDP1_uc010atm.2_Non-coding_Transcript|TDP1_uc001xxz.2_Silent_p.L225L|TDP1_uc010atn.2_Silent_p.L225L|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_Non-coding_Transcript|TDP1_uc010ato.2_Silent_p.L225L	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	225					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)										0.127273	9.735241	17.146112	7	48	KEEP	---	---	---	---	capture		Silent	SNP	90437534	90437534	16254	14	G	T	T	T	587	46	TDP1	2	2
CALM1	801	broad.mit.edu	37	14	90870298	90870298	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90870298C>T	uc010atq.1	+	c.274C>T	c.(274-276)CGA>TGA	p.R92*	CALM1_uc001xyl.1_Nonsense_Mutation_p.R91*|CALM1_uc010atr.1_Intron|CALM1_uc001xym.1_Nonsense_Mutation_p.R55*	NM_006888	NP_008819	P62158	CALM_HUMAN	calmodulin 1 isoform 1	91	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)									0.111111	4.075636	9.457274	4	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	90870298	90870298	2701	14	C	T	T	T	295	23	CALM1	5	1
SERPINA3	12	broad.mit.edu	37	14	95080889	95080889	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95080889G>T	uc001ydo.3	+	c.186G>T	c.(184-186)GAG>GAT	p.E62D	SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.2_Non-coding_Transcript|SERPINA3_uc001ydq.2_Missense_Mutation_p.E37D|SERPINA3_uc001ydp.2_Missense_Mutation_p.E37D|SERPINA3_uc001yds.2_Missense_Mutation_p.E37D|SERPINA3_uc010avg.2_Missense_Mutation_p.E37D	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	37					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)	5		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)										0.146667	16.291779	25.283725	11	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95080889	95080889	14578	14	G	T	T	T	425	33	SERPINA3	2	2
MEF2A	4205	broad.mit.edu	37	15	100250868	100250868	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:100250868G>T	uc010urw.1	+	c.1045G>T	c.(1045-1047)GCC>TCC	p.A349S	MEF2A_uc010urv.1_Missense_Mutation_p.A279S|MEF2A_uc010bos.2_Missense_Mutation_p.A339S|MEF2A_uc002bvf.2_Missense_Mutation_p.A341S|MEF2A_uc002bve.2_Missense_Mutation_p.A347S|MEF2A_uc002bvg.2_Missense_Mutation_p.A339S|MEF2A_uc002bvi.2_Missense_Mutation_p.A339S|MEF2A_uc010bot.2_Missense_Mutation_p.A271S	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A isoform 1	349					apoptosis|innate immune response|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|nervous system development|positive regulation of muscle cell differentiation|regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear chromatin|nucleoplasm	sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)							195				0.166667	4.263424	6.796955	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100250868	100250868	9844	15	G	T	T	T	442	34	MEF2A	2	2
ADAMTS17	170691	broad.mit.edu	37	15	100649235	100649235	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:100649235C>G	uc002bvv.1	-	c.1975G>C	c.(1975-1977)GGG>CGG	p.G659R	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G416R	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	659	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)										0.257143	22.96046	24.830716	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100649235	100649235	263	15	C	G	G	G	299	23	ADAMTS17	3	3
C15orf2	23742	broad.mit.edu	37	15	24921270	24921270	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24921270C>A	uc001ywo.2	+	c.256C>A	c.(256-258)CCG>ACG	p.P86T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	86					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.172414	7.934366	10.917336	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24921270	24921270	1834	15	C	A	A	A	338	26	C15orf2	2	2
OCA2	4948	broad.mit.edu	37	15	28090154	28090154	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28090154C>A	uc001zbh.3	-	c.2383G>T	c.(2383-2385)GGG>TGG	p.G795W	OCA2_uc010ayv.2_Missense_Mutation_p.G771W	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	795	Extracellular (Potential).		G -> R (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)										0.2	14.135403	16.644612	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28090154	28090154	11220	15	C	A	A	A	312	24	OCA2	2	2
SLC12A6	9990	broad.mit.edu	37	15	34528982	34528982	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34528982C>T	uc001zhw.2	-	c.2969G>A	c.(2968-2970)CGC>CAC	p.R990H	SLC12A6_uc001zhv.2_Missense_Mutation_p.R939H|SLC12A6_uc001zhx.2_Missense_Mutation_p.R975H|SLC12A6_uc001zhy.2_Non-coding_Transcript|SLC12A6_uc001zhz.2_Non-coding_Transcript|SLC12A6_uc001zia.2_Missense_Mutation_p.R931H|SLC12A6_uc001zib.2_Missense_Mutation_p.R981H|SLC12A6_uc001zic.2_Missense_Mutation_p.R990H|SLC12A6_uc010bau.2_Missense_Mutation_p.R990H|SLC12A6_uc001zid.2_Missense_Mutation_p.R931H|SLC12A6_uc001zht.2_Non-coding_Transcript|SLC12A6_uc001zhu.2_Missense_Mutation_p.R802H	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	990	Cytoplasmic (Potential).				angiogenesis|potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)	6		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)									0.054054	-7.115252	8.357893	4	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34528982	34528982	14882	15	C	T	T	T	351	27	SLC12A6	1	1
MYO5A	4644	broad.mit.edu	37	15	52720687	52720687	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52720687T>A	uc002aby.2	-	c.218A>T	c.(217-219)GAC>GTC	p.D73V	MYO5A_uc002abx.3_Missense_Mutation_p.D73V|MYO5A_uc010uge.1_Intron	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	73	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)										0.060241	-8.582371	8.234115	5	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52720687	52720687	10473	15	T	A	A	A	754	58	MYO5A	3	3
PRTG	283659	broad.mit.edu	37	15	55970202	55970202	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:55970202T>C	uc002adg.2	-	c.1174A>G	c.(1174-1176)ATT>GTT	p.I392V	PRTG_uc002adh.2_5'Flank	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	392	Ig-like 4.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)	2				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)										0.233333	18.311772	20.263073	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55970202	55970202	13089	15	T	C	C	C	637	49	PRTG	4	4
VPS13C	54832	broad.mit.edu	37	15	62292765	62292765	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:62292765C>A	uc002agz.2	-	c.1351G>T	c.(1351-1353)GAG>TAG	p.E451*	VPS13C_uc002aha.2_Nonsense_Mutation_p.E408*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.E451*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.E408*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	451					protein localization					ovary(2)	2														0.2	8.701301	10.365995	4	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	62292765	62292765	17758	15	C	A	A	A	377	29	VPS13C	5	2
CSPG4	1464	broad.mit.edu	37	15	75982567	75982567	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75982567G>A	uc002baw.2	-	c.839C>T	c.(838-840)GCC>GTC	p.A280V		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	280	Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3										549				0.125	3.309819	6.606509	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75982567	75982567	4101	15	G	A	A	A	546	42	CSPG4	2	2
RBBP6	5930	broad.mit.edu	37	16	24583167	24583167	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24583167C>T	uc002dmh.2	+	c.4780C>T	c.(4780-4782)CCA>TCA	p.P1594S	RBBP6_uc002dmi.2_Missense_Mutation_p.P1560S|RBBP6_uc010bxr.2_Missense_Mutation_p.P754S|RBBP6_uc002dmk.2_Missense_Mutation_p.P1427S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1594					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)										0.064516	-3.934589	8.273004	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24583167	24583167	13564	16	C	T	T	T	234	18	RBBP6	2	2
YPEL3	83719	broad.mit.edu	37	16	30106460	30106460	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30106460T>C	uc002dwl.2	-	c.239A>G	c.(238-240)CAG>CGG	p.Q80R	BOLA2_uc010bzb.1_Intron|YPEL3_uc002dwm.2_Missense_Mutation_p.Q42R|YPEL3_uc002dwn.1_Missense_Mutation_p.Q80R	NM_031477	NP_113665	P61236	YPEL3_HUMAN	yippee-like 3 isoform 1	42						nucleolus					0														0.181818	8.188221	10.279628	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30106460	30106460	18074	16	T	C	C	C	715	55	YPEL3	4	4
AMFR	267	broad.mit.edu	37	16	56423276	56423276	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:56423276C>G	uc002eiy.2	-	c.1097G>C	c.(1096-1098)CGT>CCT	p.R366P	AMFR_uc002eix.2_Intron	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	366	RING-type.				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						Pancreas(2;144 323 39528)								0.1875	21.756248	26.138374	9	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56423276	56423276	574	16	C	G	G	G	247	19	AMFR	3	3
CCDC135	84229	broad.mit.edu	37	16	57756693	57756693	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57756693G>A	uc002emi.2	+	c.1348G>A	c.(1348-1350)GCC>ACC	p.A450T	CCDC135_uc002emj.2_Missense_Mutation_p.A450T|CCDC135_uc002emk.2_Missense_Mutation_p.A385T	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	450						cytoplasm				central_nervous_system(1)	1														0.237288	29.650191	33.358397	14	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57756693	57756693	2889	16	G	A	A	A	546	42	CCDC135	2	2
NRN1L	123904	broad.mit.edu	37	16	67919707	67919707	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67919707C>T	uc002euu.2	+	c.162C>T	c.(160-162)ATC>ATT	p.I54I	EDC4_uc002eut.1_3'UTR	NM_198443	NP_940845	Q496H8	NRN1L_HUMAN	neuritin 1-like precursor	54						anchored to membrane|plasma membrane				central_nervous_system(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)										0.191781	29.224449	35.696226	14	59	KEEP	---	---	---	---	capture		Silent	SNP	67919707	67919707	11064	16	C	T	T	T	382	30	NRN1L	2	2
RHOT2	89941	broad.mit.edu	37	16	723512	723512	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:723512C>T	uc002cip.2	+	c.1763C>T	c.(1762-1764)TCC>TTC	p.S588F	RHOT2_uc002ciq.2_Missense_Mutation_p.S481F|RHOT2_uc010bqy.2_Missense_Mutation_p.S367F|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank|RHBDL1_uc002cis.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	588	Miro 2.|Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|hydrolase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)												0.219298	57.405495	65.696323	25	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	723512	723512	13819	16	C	T	T	T	390	30	RHOT2	2	2
NUDT7	283927	broad.mit.edu	37	16	77775523	77775523	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77775523C>T	uc010chd.2	+	c.393C>T	c.(391-393)AAC>AAT	p.N131N	NUDT7_uc010vnj.1_Silent_p.N78N	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	nudix motif 7	131	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			ovary(1)|kidney(1)	2														0.177419	22.797114	28.789022	11	51	KEEP	---	---	---	---	capture		Silent	SNP	77775523	77775523	11149	16	C	T	T	T	259	20	NUDT7	2	2
PLCG2	5336	broad.mit.edu	37	16	81973536	81973536	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81973536A>T	uc002fgt.2	+	c.3353A>T	c.(3352-3354)GAG>GTG	p.E1118V		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	1118	C2.				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				0.095238	-0.509714	13.299039	8	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81973536	81973536	12462	16	A	T	T	T	143	11	PLCG2	3	3
MYH3	4621	broad.mit.edu	37	17	10541663	10541663	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10541663C>T	uc002gmq.1	-	c.3426G>A	c.(3424-3426)CGG>CGA	p.R1142R		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1142	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.294118	26.037265	27.3268	10	24	KEEP	---	---	---	---	capture		Silent	SNP	10541663	10541663	10431	17	C	T	T	T	275	22	MYH3	2	2
DNAH9	1770	broad.mit.edu	37	17	11556163	11556163	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11556163G>T	uc002gne.2	+	c.2439G>T	c.(2437-2439)GAG>GAT	p.E813D	DNAH9_uc010coo.2_Missense_Mutation_p.E107D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	813	Stem (By similarity).|Potential.				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.285714	48.876674	51.760074	20	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11556163	11556163	4791	17	G	T	T	T	425	33	DNAH9	2	2
NOS2	4843	broad.mit.edu	37	17	26108190	26108190	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26108190C>A	uc002gzu.2	-	c.736G>T	c.(736-738)GTG>TTG	p.V246L	NOS2_uc010crh.1_Missense_Mutation_p.V246L|NOS2_uc010wab.1_Missense_Mutation_p.V246L	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	246					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|oxidation-reduction process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			ovary(1)|breast(1)	2					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)					578				0.203125	31.440354	36.681262	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26108190	26108190	10946	17	C	A	A	A	247	19	NOS2	1	1
EFCAB5	374786	broad.mit.edu	37	17	28407144	28407144	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28407144G>A	uc002het.2	+	c.3082G>A	c.(3082-3084)GAA>AAA	p.E1028K	EFCAB5_uc010cse.2_Missense_Mutation_p.E783K|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	1028							calcium ion binding			ovary(1)|skin(1)	2														0.265625	47.145861	50.322563	17	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28407144	28407144	5125	17	G	A	A	A	429	33	EFCAB5	2	2
TRPV3	162514	broad.mit.edu	37	17	3431341	3431341	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3431341G>T	uc002fvr.2	-	c.1481C>A	c.(1480-1482)GCC>GAC	p.A494D	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.A478D|TRPV3_uc010vri.1_Missense_Mutation_p.A449D|TRPV3_uc002fvt.1_Missense_Mutation_p.A494D|TRPV3_uc010vrj.1_Missense_Mutation_p.A478D|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.A478D|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc002fvu.2_Missense_Mutation_p.A494D|TRPV3_uc010vrn.1_Missense_Mutation_p.A76D	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	494	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)									0.090909	1.303103	6.86768	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3431341	3431341	17148	17	G	T	T	T	546	42	TRPV3	2	2
TAC4	255061	broad.mit.edu	37	17	47917224	47917224	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47917224G>T	uc002ipo.1	-	c.298C>A	c.(298-300)CTG>ATG	p.L100M	TAC4_uc002ipp.1_Missense_Mutation_p.L94M|TAC4_uc002ipq.1_Intron|TAC4_uc002ipr.1_Missense_Mutation_p.L83M|TAC4_uc002ips.1_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	tachykinin 4 isoform alpha	100					regulation of blood pressure	extracellular region				breast(1)	1														0.137931	5.689437	9.359317	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47917224	47917224	16021	17	G	T	T	T	451	35	TAC4	2	2
ZNF594	84622	broad.mit.edu	37	17	5086105	5086105	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5086105T>C	uc010cla.1	-	c.1447A>G	c.(1447-1449)ACT>GCT	p.T483A		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.232143	28.201139	31.937776	13	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5086105	5086105	18619	17	T	C	C	C	741	57	ZNF594	4	4
DHX33	56919	broad.mit.edu	37	17	5364391	5364391	+	Silent	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5364391G>A	uc002gca.2	-	c.717C>T	c.(715-717)TTC>TTT	p.F239F	DHX33_uc002gbz.2_Silent_p.F10F|DHX33_uc002gcb.2_Silent_p.F66F|DHX33_uc010clf.2_Intron	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	239	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2														0.110092	13.358974	29.722873	12	97	KEEP	---	---	---	---	capture		Silent	SNP	5364391	5364391	4685	17	G	A	A	A	425	33	DHX33	2	2
SDK2	54549	broad.mit.edu	37	17	71391419	71391419	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71391419A>G	uc010dfm.2	-	c.3467T>C	c.(3466-3468)GTG>GCG	p.V1156A	SDK2_uc002jjt.3_Missense_Mutation_p.V315A|SDK2_uc010dfn.2_Missense_Mutation_p.V835A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1156	Extracellular (Potential).|Fibronectin type-III 6.				cell adhesion	integral to membrane				ovary(2)	2														0.25	16.479321	18.303637	8	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71391419	71391419	14455	17	A	G	G	G	78	6	SDK2	4	4
FBF1	85302	broad.mit.edu	37	17	73921504	73921504	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73921504C>T	uc002jqc.2	-	c.850G>A	c.(850-852)GAG>AAG	p.E284K	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.1_Missense_Mutation_p.E274K|FBF1_uc002jqd.1_Missense_Mutation_p.E284K	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	284											0														0.285714	20.798116	21.946304	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73921504	73921504	5931	17	C	T	T	T	403	31	FBF1	1	1
TP53	7157	broad.mit.edu	37	17	7578393	7578393	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578393A>T	uc002gim.2	-	c.537T>A	c.(535-537)CAT>CAA	p.H179Q	TP53_uc002gig.1_Missense_Mutation_p.H179Q|TP53_uc002gih.2_Missense_Mutation_p.H179Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Q|TP53_uc010cng.1_Missense_Mutation_p.H47Q|TP53_uc002gii.1_Missense_Mutation_p.H47Q|TP53_uc010cnh.1_Missense_Mutation_p.H179Q|TP53_uc010cni.1_Missense_Mutation_p.H179Q|TP53_uc002gij.2_Missense_Mutation_p.H179Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86Q|TP53_uc002gio.2_Missense_Mutation_p.H47Q|TP53_uc010vug.1_Missense_Mutation_p.H140Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	179	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.H179Q(16)|p.P177_C182delPHHERC(7)|p.0?(6)|p.C176_R181delCPHHER(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.H179H(2)|p.P177fs*3(2)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R174_H179delRRCPHH(1)|p.C176fs*65(1)|p.H179R(1)|p.P177_H179delPHH(1)|p.R174fs*3(1)|p.E171_H179delEVVRRCPHH(1)|p.V173fs*23(1)|p.R174_E180>K(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*61(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.R174fs(THP1-Tumor)|p.H179Q(NCIH1436-Tumor)|p.H179Q(GCIY-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.243902	25.931109	28.380561	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578393	7578393	16923	17	A	T	T	T	102	8	TP53	3	3
TMEM88	92162	broad.mit.edu	37	17	7758930	7758930	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7758930C>A	uc002giy.2	+	c.378C>A	c.(376-378)TAC>TAA	p.Y126*	CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank	NM_203411	NP_981956	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	126						integral to membrane					0		all_cancers(10;0.00528)|Prostate(122;0.202)												0.323529	29.923094	30.857867	11	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7758930	7758930	16751	17	C	A	A	A	220	17	TMEM88	5	2
HEXDC	284004	broad.mit.edu	37	17	80393670	80393670	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80393670G>A	uc002kev.3	+	c.553G>A	c.(553-555)GTG>ATG	p.V185M	HEXDC_uc010diq.2_Missense_Mutation_p.V185M|HEXDC_uc002kew.2_Missense_Mutation_p.V185M|HEXDC_uc010wvm.1_Non-coding_Transcript|HEXDC_uc010wvn.1_5'Flank	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20,	185					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)											0.068966	-3.804716	12.88811	6	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80393670	80393670	7358	17	G	A	A	A	520	40	HEXDC	1	1
RBBP8	5932	broad.mit.edu	37	18	20573261	20573261	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:20573261C>G	uc002kua.2	+	c.1471C>G	c.(1471-1473)CTG>GTG	p.L491V	RBBP8_uc002ktw.2_Missense_Mutation_p.L491V|RBBP8_uc002kty.2_Missense_Mutation_p.L491V|RBBP8_uc002ktz.2_Missense_Mutation_p.L491V|RBBP8_uc002ktx.1_Missense_Mutation_p.L491V	NM_203291	NP_976036	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	491	CTBP-binding motif.				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|skin(1)	2	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)							470				0.15942	20.486521	28.107324	11	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20573261	20573261	13566	18	C	G	G	G	415	32	RBBP8	3	3
TAF4B	6875	broad.mit.edu	37	18	23861998	23861998	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:23861998C>T	uc002kvt.3	+	c.946C>T	c.(946-948)CAG>TAG	p.Q316*	TAF4B_uc002kvu.3_Nonsense_Mutation_p.Q316*|TAF4B_uc002kvs.3_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	316	TAFH.				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity|transcription initiation factor activity			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)											0.098361	1.964485	11.949217	6	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23861998	23861998	16048	18	C	T	T	T	377	29	TAF4B	5	2
SMCHD1	23347	broad.mit.edu	37	18	2694615	2694615	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2694615G>T	uc002klm.3	+	c.964G>T	c.(964-966)GTG>TTG	p.V322L		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	322					chromosome organization		ATP binding				0														0.192308	9.040651	11.369195	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2694615	2694615	15286	18	G	T	T	T	624	48	SMCHD1	2	2
FHOD3	80206	broad.mit.edu	37	18	34205613	34205613	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:34205613C>A	uc002kzs.1	+	c.1097C>A	c.(1096-1098)TCG>TAG	p.S366*	FHOD3_uc002kzr.1_Nonsense_Mutation_p.S366*|FHOD3_uc002kzt.1_Nonsense_Mutation_p.S366*|FHOD3_uc002kzu.1_Nonsense_Mutation_p.S191*|FHOD3_uc010dmz.1_Nonsense_Mutation_p.S119*	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	366	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|breast(2)|ovary(1)	5		all_epithelial(2;0.0181)|Colorectal(2;0.0195)												0.171429	20.65961	27.805073	12	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34205613	34205613	6121	18	C	A	A	A	403	31	FHOD3	5	1
LAMA1	284217	broad.mit.edu	37	18	7040236	7040236	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7040236C>A	uc002knm.2	-	c.1262_splice	c.e10-1	p.G421_splice	LAMA1_uc010wzj.1_Splice_Site_SNP	NM_005559	NP_005550			laminin, alpha 1 precursor						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.145833	11.497001	17.283268	7	41	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7040236	7040236	8928	18	C	A	A	A	312	24	LAMA1	5	2
LAMA1	284217	broad.mit.edu	37	18	7049207	7049207	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7049207G>T	uc002knm.2	-	c.638C>A	c.(637-639)CCC>CAC	p.P213H	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	213	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.1375	15.980434	26.152338	11	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7049207	7049207	8928	18	G	T	T	T	559	43	LAMA1	2	2
ZNF709	163051	broad.mit.edu	37	19	12575152	12575152	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12575152C>A	uc002mtv.3	-	c.1584G>T	c.(1582-1584)GGG>GGT	p.G528G	ZNF709_uc002mtw.3_Silent_p.G496G|ZNF709_uc002mtx.3_Silent_p.G528G	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GBM(33;565 669 12371 29134 51667)								0.142857	25.88809	40.53358	17	102	KEEP	---	---	---	---	capture		Silent	SNP	12575152	12575152	18709	19	C	A	A	A	275	22	ZNF709	2	2
SYCE2	256126	broad.mit.edu	37	19	13011369	13011369	+	Nonsense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13011369G>A	uc002mvr.2	-	c.400C>T	c.(400-402)CAG>TAG	p.Q134*		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	134					cell division|meiotic prophase I	central element					0														0.253012	48.701238	53.333466	21	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	13011369	13011369	15950	19	G	A	A	A	611	47	SYCE2	5	2
CALR	811	broad.mit.edu	37	19	13050438	13050438	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13050438C>T	uc002mvu.2	+	c.390C>T	c.(388-390)ATC>ATT	p.I130I		NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	130	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|transcription repressor activity|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.170543	38.789678	52.023454	22	107	KEEP	---	---	---	---	capture		Silent	SNP	13050438	13050438	2709	19	C	T	T	T	369	29	CALR	2	2
EPS15L1	58513	broad.mit.edu	37	19	16548592	16548592	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16548592G>A	uc002ndx.2	-	c.298C>T	c.(298-300)CCG>TCG	p.P100S	EPS15L1_uc002ndy.2_Non-coding_Transcript|EPS15L1_uc010xpe.1_5'Flank|EPS15L1_uc002ndz.1_Missense_Mutation_p.P100S|EPS15L1_uc010xpf.1_Missense_Mutation_p.P3S|EPS15L1_uc002nea.1_Missense_Mutation_p.P100S|EPS15L1_uc010eah.1_Missense_Mutation_p.P100S|EPS15L1_uc002neb.1_5'Flank|EPS15L1_uc002nec.1_Missense_Mutation_p.P100S	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	100	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)	3														0.125	5.677179	10.073702	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16548592	16548592	5386	19	G	A	A	A	572	44	EPS15L1	2	2
NFKBID	84807	broad.mit.edu	37	19	36387822	36387822	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36387822C>G	uc002ocj.1	-	c.190G>C	c.(190-192)GGG>CGG	p.G64R	NFKBID_uc002och.1_5'Flank|NFKBID_uc002oci.1_Missense_Mutation_p.G49R	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	49	ANK 1.				inflammatory response	nucleus					0														0.46988	109.066156	109.125766	39	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36387822	36387822	10779	19	C	G	G	G	286	22	NFKBID	3	3
CAPNS1	826	broad.mit.edu	37	19	36634000	36634000	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36634000C>T	uc002odi.1	+	c.426C>T	c.(424-426)GAC>GAT	p.D142D	CAPNS1_uc002odj.2_Silent_p.D142D|CAPNS1_uc002odk.2_Silent_p.D142D|CAPNS1_uc002odl.2_Silent_p.D142D	NM_001749	NP_001740	P04632	CPNS1_HUMAN	calpain, small subunit 1	142	EF-hand 2.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			Esophageal Squamous(129;1541 1691 5780 18353 34150)								0.443662	181.276539	181.67123	63	79	KEEP	---	---	---	---	capture		Silent	SNP	36634000	36634000	2752	19	C	T	T	T	220	17	CAPNS1	2	2
PSG6	5675	broad.mit.edu	37	19	43528911	43528911	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43528911G>T	uc002ovh.1	-	c.380C>A	c.(379-381)ACC>AAC	p.T127N	PSG11_uc002ouw.2_Missense_Mutation_p.T127N|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.T127N|PSG11_uc002ovm.1_Missense_Mutation_p.T121N|PSG11_uc002ovn.1_Missense_Mutation_p.T127N|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron	PSG6		Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	120	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00899)												0.560284	245.907988	246.353167	79	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43528911	43528911	13112	19	G	T	T	T	572	44	PSG6	2	2
PSG9	5678	broad.mit.edu	37	19	43762451	43762451	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43762451G>T	uc002owd.3	-	c.1146C>A	c.(1144-1146)CCC>CCA	p.P382P	PSG9_uc002owe.3_Silent_p.P289P|PSG9_uc010xwm.1_Silent_p.P289P|PSG9_uc002owf.3_Silent_p.P196P|PSG9_uc002owg.2_Silent_p.P289P|PSG9_uc002owh.2_Silent_p.P196P	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	382	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.396226	179.833825	181.316293	63	96	KEEP	---	---	---	---	capture		Silent	SNP	43762451	43762451	13115	19	G	T	T	T	548	43	PSG9	2	2
TULP2	7288	broad.mit.edu	37	19	49399713	49399713	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49399713C>T	uc002pkz.2	-	c.185G>A	c.(184-186)CGG>CAG	p.R62Q		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	62					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)										0.09589	2.890115	14.840868	7	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49399713	49399713	17329	19	C	T	T	T	299	23	TULP2	1	1
LILRB2	10288	broad.mit.edu	37	19	54780306	54780306	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54780306C>G	uc002qfb.2	-	c.1488G>C	c.(1486-1488)CAG>CAC	p.Q496H	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Intron|LILRB2_uc010erj.2_Non-coding_Transcript|LILRB2_uc002qfc.2_Missense_Mutation_p.Q495H|LILRB2_uc010yet.1_Missense_Mutation_p.Q380H	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	496	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.263158	12.468663	13.431378	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54780306	54780306	9117	19	C	G	G	G	415	32	LILRB2	3	3
NLRP4	147945	broad.mit.edu	37	19	56369522	56369522	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56369522C>A	uc002qmd.3	+	c.763C>A	c.(763-765)CGG>AGG	p.R255R	NLRP4_uc002qmf.2_Silent_p.R180R|NLRP4_uc010etf.2_Silent_p.R86R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	255	NACHT.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.170213	17.78611	22.609168	8	39	KEEP	---	---	---	---	capture		Silent	SNP	56369522	56369522	10882	19	C	A	A	A	243	19	NLRP4	1	1
ZIM2	23619	broad.mit.edu	37	19	57286342	57286342	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57286342G>C	uc002qnr.2	-	c.1298C>G	c.(1297-1299)GCC>GGC	p.A433G	ZIM2_uc010ygq.1_Missense_Mutation_p.A229G|ZIM2_uc010ygr.1_Missense_Mutation_p.A229G|ZIM2_uc002qnq.2_Missense_Mutation_p.A433G|ZIM2_uc010etp.2_Missense_Mutation_p.A433G|ZIM2_uc010ygs.1_Missense_Mutation_p.A433G	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	433	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)										0.240741	36.563267	39.864385	13	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57286342	57286342	18275	19	G	C	C	C	546	42	ZIM2	3	3
ZNF256	10172	broad.mit.edu	37	19	58453004	58453004	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58453004C>A	uc002qqu.2	-	c.1172G>T	c.(1171-1173)AGC>ATC	p.S391I	ZNF256_uc010euj.2_Missense_Mutation_p.S238I	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	391	C2H2-type 7.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|general transcriptional repressor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		NSCLC(55;1313 1552 8040 11996)								0.259259	35.443218	38.266604	14	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58453004	58453004	18390	19	C	A	A	A	364	28	ZNF256	2	2
RPRD2	23248	broad.mit.edu	37	1	150443311	150443311	+	Silent	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150443311G>A	uc009wlr.2	+	c.1887G>A	c.(1885-1887)TTG>TTA	p.L629L	RPRD2_uc010pcc.1_Silent_p.L603L|RPRD2_uc001eup.3_Silent_p.L603L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	629	Ser-rich.						protein binding			ovary(1)	1														0.190476	22.854424	28.509599	12	51	KEEP	---	---	---	---	capture		Silent	SNP	150443311	150443311	14096	1	G	A	A	A	607	47	RPRD2	2	2
FLG2	388698	broad.mit.edu	37	1	152325389	152325389	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152325389C>G	uc001ezw.3	-	c.4873G>C	c.(4873-4875)GGA>CGA	p.G1625R		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1625	Filaggrin 6.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.039275	-50.491934	25.39399	13	318	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152325389	152325389	6161	1	C	G	G	G	312	24	FLG2	3	3
NBPF1	55672	broad.mit.edu	37	1	16895567	16895567	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16895567C>A	uc009vos.1	-	c.2614_splice	c.e23+1	p.G872_splice	NBPF1_uc009vot.1_Splice_Site_SNP_p.G330_splice|NBPF1_uc001ayz.1_Splice_Site_SNP_p.G330_splice|NBPF1_uc010oce.1_Splice_Site_SNP_p.G601_splice	NM_017940	NP_060410			hypothetical protein LOC55672							cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)										0.024447	-177.402905	38.255442	21	838	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	16895567	16895567	10588	1	C	A	A	A	234	18	NBPF1	5	2
PAPPA2	60676	broad.mit.edu	37	1	176564456	176564456	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176564456C>A	uc001gkz.2	+	c.1716C>A	c.(1714-1716)GTC>GTA	p.V572V	PAPPA2_uc001gky.1_Silent_p.V572V|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	572	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.245283	25.324725	28.485936	13	40	KEEP	---	---	---	---	capture		Silent	SNP	176564456	176564456	11850	1	C	A	A	A	379	30	PAPPA2	2	2
KIAA1614	57710	broad.mit.edu	37	1	180887047	180887047	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180887047A>G	uc001gok.2	+	c.1058A>G	c.(1057-1059)AAC>AGC	p.N353S		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	353										ovary(3)	3														0.083333	1.162929	9.634719	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180887047	180887047	8557	1	A	G	G	G	26	2	KIAA1614	4	4
PPFIA4	8497	broad.mit.edu	37	1	203024683	203024683	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203024683C>A	uc010pqf.1	+	c.1074C>A	c.(1072-1074)ACC>ACA	p.T358T	PPFIA4_uc009xaj.2_Silent_p.T776T|PPFIA4_uc001gyz.2_Silent_p.T145T|PPFIA4_uc001gza.2_Silent_p.T145T|PPFIA4_uc001gzb.1_5'Flank	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	145					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5														0.172414	8.86278	11.799086	5	24	KEEP	---	---	---	---	capture		Silent	SNP	203024683	203024683	12742	1	C	A	A	A	301	24	PPFIA4	2	2
CR2	1380	broad.mit.edu	37	1	207647191	207647191	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207647191G>C	uc001hfv.2	+	c.2201G>C	c.(2200-2202)GGT>GCT	p.G734A	CR2_uc001hfw.2_Missense_Mutation_p.G675A|CR2_uc009xch.2_Missense_Mutation_p.G675A	NM_001006658	NP_001006659	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	796	Sushi 13.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(1)|urinary_tract(1)|ovary(1)	3														0.076087	2.689352	19.592775	7	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207647191	207647191	3981	1	G	C	C	C	572	44	CR2	3	3
C1orf95	375057	broad.mit.edu	37	1	226784561	226784561	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226784561G>T	uc010pvn.1	+	c.261G>T	c.(259-261)AGG>AGT	p.R87S		NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN	hypothetical protein LOC375057	87	Helical; (Potential).					integral to membrane				ovary(1)	1	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)										0.160839	38.655099	54.310779	23	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226784561	226784561	2148	1	G	T	T	T	542	42	C1orf95	2	2
HIST3H2BB	128312	broad.mit.edu	37	1	228645844	228645844	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228645844C>A	uc001hsz.2	+	c.14C>A	c.(13-15)TCC>TAC	p.S5Y	HIST3H2A_uc001hsy.2_5'Flank	NM_175055	NP_778225	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	5					nucleosome assembly	nucleosome|nucleus	DNA binding				0		Prostate(94;0.183)												0.278689	38.721051	41.430544	17	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228645844	228645844	7474	1	C	A	A	A	390	30	HIST3H2BB	2	2
URB2	9816	broad.mit.edu	37	1	229773858	229773858	+	Silent	SNP	A	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229773858A>C	uc001hts.1	+	c.3498A>C	c.(3496-3498)CCA>CCC	p.P1166P	URB2_uc009xfd.1_Silent_p.P1166P	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1166						nucleolus				central_nervous_system(2)|ovary(1)	3										340				0.333333	53.287354	54.870976	21	42	KEEP	---	---	---	---	capture		Silent	SNP	229773858	229773858	17587	1	A	C	C	C	80	7	URB2	4	4
GALNT2	2590	broad.mit.edu	37	1	230398372	230398372	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230398372A>T	uc010pwa.1	+	c.1190A>T	c.(1189-1191)TAT>TTT	p.Y397F	GALNT2_uc010pvy.1_Missense_Mutation_p.Y359F|GALNT2_uc010pvz.1_Non-coding_Transcript|GALNT2_uc001htu.2_Missense_Mutation_p.Y9F	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	397	Lumenal (Potential).				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)												0.064935	-12.050432	33.368268	15	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230398372	230398372	6477	1	A	T	T	T	208	16	GALNT2	3	3
PGBD5	79605	broad.mit.edu	37	1	230472911	230472911	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230472911T>A	uc001htv.2	-	c.1108A>T	c.(1108-1110)ATT>TTT	p.I370F	PGBD5_uc010pwb.1_Missense_Mutation_p.I271F	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	271						integral to membrane				ovary(2)|central_nervous_system(1)	3	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)										0.259259	37.162596	39.973135	14	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230472911	230472911	12207	1	T	A	A	A	663	51	PGBD5	3	3
SIPA1L2	57568	broad.mit.edu	37	1	232534931	232534931	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232534931G>T	uc001hvg.2	-	c.5111C>A	c.(5110-5112)ACA>AAA	p.T1704K	SIPA1L2_uc001hvf.2_Missense_Mutation_p.T760K	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1704	Potential.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.175	14.001747	17.986389	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232534931	232534931	14825	1	G	T	T	T	624	48	SIPA1L2	2	2
OR2L8	391190	broad.mit.edu	37	1	248112175	248112175	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248112175C>A	uc001idt.1	+	c.16C>A	c.(16-18)CAA>AAA	p.Q6K	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	6	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)											0.138158	27.784467	47.027385	21	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248112175	248112175	11415	1	C	A	A	A	377	29	OR2L8	2	2
OR2L8	391190	broad.mit.edu	37	1	248112611	248112611	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248112611G>T	uc001idt.1	+	c.452G>T	c.(451-453)GGC>GTC	p.G151V	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	151	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)											0.098039	14.368896	55.537084	25	230	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248112611	248112611	11415	1	G	T	T	T	546	42	OR2L8	2	2
OR2M2	391194	broad.mit.edu	37	1	248343380	248343380	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343380C>A	uc010pzf.1	+	c.93C>A	c.(91-93)GTC>GTA	p.V31V		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.27551	124.738718	133.660451	54	142	KEEP	---	---	---	---	capture		Silent	SNP	248343380	248343380	11416	1	C	A	A	A	379	30	OR2M2	2	2
OR2T33	391195	broad.mit.edu	37	1	248436583	248436583	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248436583C>A	uc010pzi.1	-	c.534G>T	c.(532-534)GAG>GAT	p.E178D		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.190476	8.589566	10.468984	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248436583	248436583	11430	1	C	A	A	A	415	32	OR2T33	2	2
OR2T1	26696	broad.mit.edu	37	1	248569491	248569491	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248569491G>T	uc010pzm.1	+	c.196G>T	c.(196-198)GGG>TGG	p.G66W		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	66	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.068182	-9.198538	16.404233	9	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248569491	248569491	11422	1	G	T	T	T	559	43	OR2T1	2	2
OR2G6	391211	broad.mit.edu	37	1	248685220	248685220	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248685220C>A	uc001ien.1	+	c.273C>A	c.(271-273)ACC>ACA	p.T91T		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	91	Extracellular (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)											0.164062	39.218909	52.935038	21	107	KEEP	---	---	---	---	capture		Silent	SNP	248685220	248685220	11406	1	C	A	A	A	262	21	OR2G6	2	2
MECR	51102	broad.mit.edu	37	1	29543143	29543143	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29543143C>A	uc001brq.1	-	c.231G>T	c.(229-231)ATG>ATT	p.M77I	MECR_uc001brp.1_Missense_Mutation_p.M1I|MECR_uc001brr.1_Missense_Mutation_p.M1I|MECR_uc001brs.1_Non-coding_Transcript|MECR_uc001brt.1_Missense_Mutation_p.M1I|MECR_uc010ofz.1_Missense_Mutation_p.M77I	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	77					fatty acid biosynthetic process|oxidation-reduction process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)										0.125828	24.637716	45.266478	19	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29543143	29543143	9813	1	C	A	A	A	325	25	MECR	2	2
EPHA10	284656	broad.mit.edu	37	1	38227423	38227423	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38227423C>T	uc009vvi.2	-	c.504G>A	c.(502-504)GAG>GAA	p.E168E	EPHA10_uc001cbw.3_Silent_p.E168E	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	168	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(3)|stomach(1)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)								328				0.282609	33.889005	35.8223	13	33	KEEP	---	---	---	---	capture		Silent	SNP	38227423	38227423	5359	1	C	T	T	T	363	28	EPHA10	2	2
CYP4A11	1579	broad.mit.edu	37	1	47395892	47395892	+	Silent	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47395892G>C	uc001cqp.3	-	c.1455C>G	c.(1453-1455)ACC>ACG	p.T485T		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	485					long-chain fatty acid metabolic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)	2					NADH(DB00157)									0.12844	21.977869	36.635741	14	95	KEEP	---	---	---	---	capture		Silent	SNP	47395892	47395892	4348	1	G	C	C	C	600	47	CYP4A11	3	3
INADL	10207	broad.mit.edu	37	1	62329964	62329964	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62329964G>T	uc001dab.2	+	c.2494G>T	c.(2494-2496)GAT>TAT	p.D832Y	INADL_uc009waf.1_Missense_Mutation_p.D832Y|INADL_uc001daa.2_Missense_Mutation_p.D832Y|INADL_uc001dad.3_Missense_Mutation_p.D529Y|INADL_uc001dac.2_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	832					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.111111	6.246454	17.018737	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62329964	62329964	8032	1	G	T	T	T	429	33	INADL	2	2
DNAJC6	9829	broad.mit.edu	37	1	65878623	65878623	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65878623A>G	uc001dce.1	+	c.2828A>G	c.(2827-2829)TAT>TGT	p.Y943C	DNAJC6_uc001dcd.1_Missense_Mutation_p.Y886C|DNAJC6_uc010opc.1_Missense_Mutation_p.Y873C	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	886	J.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3														0.12234	36.193243	62.473854	23	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65878623	65878623	4836	1	A	G	G	G	208	16	DNAJC6	4	4
RPE65	6121	broad.mit.edu	37	1	68904894	68904894	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:68904894C>G	uc001dei.1	-	c.838G>C	c.(838-840)GAG>CAG	p.E280Q		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	280					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1														0.1	4.368541	10.762361	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68904894	68904894	14024	1	C	G	G	G	377	29	RPE65	3	3
CAMTA1	23261	broad.mit.edu	37	1	7797473	7797473	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7797473G>C	uc001aoi.2	+	c.3501G>C	c.(3499-3501)CAG>CAC	p.Q1167H	CAMTA1_uc010nzv.1_Missense_Mutation_p.Q254H|CAMTA1_uc001aok.3_Missense_Mutation_p.Q210H|CAMTA1_uc001aoj.2_Missense_Mutation_p.Q123H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1167	ANK 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding|transcription regulator activity			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)										0.102941	4.443051	15.228986	7	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7797473	7797473	2730	1	G	C	C	C	425	33	CAMTA1	3	3
GBP4	115361	broad.mit.edu	37	1	89656943	89656943	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89656943C>A	uc001dnb.2	-	c.916_splice	c.e6+1	p.R306_splice		NM_052941	NP_443173			guanylate binding protein 4							cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)										0.153846	20.616688	28.055302	10	55	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	89656943	89656943	6542	1	C	A	A	A	247	19	GBP4	5	1
GBP5	115362	broad.mit.edu	37	1	89733118	89733118	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89733118C>G	uc001dnc.2	-	c.410G>C	c.(409-411)GGT>GCT	p.G137A	GBP5_uc001dnd.2_Missense_Mutation_p.G137A|GBP5_uc001dne.1_Missense_Mutation_p.G137A	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	137						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)										0.074074	-0.644566	9.420518	4	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89733118	89733118	6543	1	C	G	G	G	234	18	GBP5	3	3
ANKRD5	63926	broad.mit.edu	37	20	10030169	10030169	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:10030169G>T	uc002wno.2	+	c.952G>T	c.(952-954)GCC>TCC	p.A318S	ANKRD5_uc002wnp.2_Missense_Mutation_p.A318S|ANKRD5_uc010gbz.2_Missense_Mutation_p.A129S	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	318							calcium ion binding			ovary(1)|breast(1)	2														0.129032	10.471527	18.769664	8	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10030169	10030169	684	20	G	T	T	T	442	34	ANKRD5	2	2
RALGAPA2	57186	broad.mit.edu	37	20	20392725	20392725	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:20392725C>A	uc002wrz.2	-	c.5563G>T	c.(5563-5565)GAT>TAT	p.D1855Y	RALGAPA2_uc010gcx.2_Missense_Mutation_p.D1559Y|RALGAPA2_uc010zsg.1_Missense_Mutation_p.D1303Y	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1855					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1														0.135922	17.996896	31.210869	14	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20392725	20392725	13474	20	C	A	A	A	390	30	RALGAPA2	2	2
MYLK2	85366	broad.mit.edu	37	20	30408223	30408223	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30408223G>T	uc002wwq.2	+	c.347G>T	c.(346-348)GGA>GTA	p.G116V		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	116					cardiac muscle contraction|cardiac muscle tissue morphogenesis|regulation of muscle filament sliding	sarcomere	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)							150				0.111111	2.690737	8.062767	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30408223	30408223	10452	20	G	T	T	T	533	41	MYLK2	2	2
C20orf185	359710	broad.mit.edu	37	20	31643259	31643259	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31643259C>T	uc002wym.1	+	c.30C>T	c.(28-30)TCC>TCT	p.S10S		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	10	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4														0.061224	-5.82585	13.864937	6	92	KEEP	---	---	---	---	capture		Silent	SNP	31643259	31643259	2175	20	C	T	T	T	275	22	C20orf185	2	2
SIGLEC1	6614	broad.mit.edu	37	20	3673237	3673237	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3673237C>A	uc002wja.2	-	c.3961G>T	c.(3961-3963)GCC>TCC	p.A1321S	SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A1321S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1321	Ig-like C2-type 13.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|breast(1)|central_nervous_system(1)	8														0.294118	14.284313	14.919868	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3673237	3673237	14800	20	C	A	A	A	351	27	SIGLEC1	1	1
RIMS4	140730	broad.mit.edu	37	20	43386379	43386379	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43386379C>A	uc010ggu.2	-	c.386G>T	c.(385-387)GGT>GTT	p.G129V	RIMS4_uc002xms.2_Missense_Mutation_p.G128V	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	128	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				ovary(4)|central_nervous_system(1)	5		Myeloproliferative disorder(115;0.0122)												0.188235	30.158799	37.888352	16	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43386379	43386379	13847	20	C	A	A	A	234	18	RIMS4	2	2
CDH22	64405	broad.mit.edu	37	20	44845618	44845618	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44845618C>A	uc002xrm.2	-	c.685G>T	c.(685-687)GCT>TCT	p.A229S	CDH22_uc010ghk.1_Missense_Mutation_p.A229S|CDH22_uc002xrn.1_5'UTR	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	229	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4		Myeloproliferative disorder(115;0.0122)												0.063492	-4.018928	8.445101	4	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44845618	44845618	3236	20	C	A	A	A	338	26	CDH22	2	2
ELMO2	63916	broad.mit.edu	37	20	45003068	45003068	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45003068C>A	uc010zxr.1	-	c.1218G>T	c.(1216-1218)GAG>GAT	p.E406D	ELMO2_uc010zxq.1_Missense_Mutation_p.E126D|ELMO2_uc002xrs.1_Missense_Mutation_p.E141D|ELMO2_uc002xrt.1_Missense_Mutation_p.E394D|ELMO2_uc002xru.1_Missense_Mutation_p.E394D|ELMO2_uc010zxs.1_Missense_Mutation_p.E211D|ELMO2_uc002xrv.1_Missense_Mutation_p.E113D|ELMO2_uc002xrw.2_Missense_Mutation_p.E211D	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	394	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.078947	-0.306307	6.575789	3	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45003068	45003068	5258	20	C	A	A	A	415	32	ELMO2	2	2
KCNB1	3745	broad.mit.edu	37	20	47990687	47990687	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47990687C>A	uc002xur.1	-	c.1410G>T	c.(1408-1410)GAG>GAT	p.E470D	KCNB1_uc002xus.1_Missense_Mutation_p.E470D	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	470	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.122807	11.060931	27.212352	14	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47990687	47990687	8317	20	C	A	A	A	415	32	KCNB1	2	2
TSHZ2	128553	broad.mit.edu	37	20	51871474	51871474	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:51871474G>A	uc002xwo.2	+	c.1477G>A	c.(1477-1479)GAC>AAC	p.D493N		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	493					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(23;0.1)											0.176471	15.136611	20.348171	9	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51871474	51871474	17175	20	G	A	A	A	429	33	TSHZ2	2	2
DOK5	55816	broad.mit.edu	37	20	53260092	53260092	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:53260092C>A	uc002xwy.2	+	c.831C>A	c.(829-831)AGC>AGA	p.S277R	DOK5_uc010gin.2_Missense_Mutation_p.S169R|DOK5_uc002xwz.2_Missense_Mutation_p.S139R	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	277							insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)											0.285714	21.288911	22.442386	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53260092	53260092	4884	20	C	A	A	A	324	25	DOK5	2	2
GNB1L	54584	broad.mit.edu	37	22	19799918	19799918	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19799918C>A	uc002zqe.1	-	c.307G>T	c.(307-309)GCT>TCT	p.A103S	GNB1L_uc002zqd.1_5'UTR|GNB1L_uc002zqf.1_Missense_Mutation_p.A103S	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	103	WD 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane				breast(1)	1	Colorectal(54;0.0993)													0.151515	8.559309	12.392803	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19799918	19799918	6785	22	C	A	A	A	351	27	GNB1L	1	1
HIC2	23119	broad.mit.edu	37	22	21800489	21800489	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21800489G>T	uc002zur.3	+	c.1305G>T	c.(1303-1305)GTG>GTT	p.V435V	HIC2_uc002zus.3_Silent_p.V435V	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	435					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding				0	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				NSCLC(23;437 858 2282 27947 40366)								0.058824	-6.336875	10.935946	5	80	KEEP	---	---	---	---	capture		Silent	SNP	21800489	21800489	7387	22	G	T	T	T	613	48	HIC2	2	2
MYO18B	84700	broad.mit.edu	37	22	26423476	26423476	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26423476C>T	uc003abz.1	+	c.7536C>T	c.(7534-7536)TCC>TCT	p.S2512S	MYO18B_uc003aca.1_Silent_p.S2393S|MYO18B_uc010guy.1_Silent_p.S2394S|MYO18B_uc010guz.1_Silent_p.S2392S|MYO18B_uc011aka.1_Silent_p.S1666S|MYO18B_uc011akb.1_Silent_p.S2025S|MYO18B_uc010gva.1_Silent_p.S495S|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2512	Poly-Ser.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12									p.S2512S(NCIH1623-Tumor)	968				0.173913	8.187977	10.494731	4	19	KEEP	---	---	---	---	capture		Silent	SNP	26423476	26423476	10461	22	C	T	T	T	288	23	MYO18B	1	1
IL1A	3552	broad.mit.edu	37	2	113532837	113532837	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113532837G>C	uc002tig.2	-	c.623C>G	c.(622-624)CCT>CGT	p.P208R		NM_000575	NP_000566	P01583	IL1A_HUMAN	interleukin 1, alpha proprotein	208					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding				0										100				0.188406	22.754157	29.016757	13	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113532837	113532837	7951	2	G	C	C	C	455	35	IL1A	3	3
TUBA3D	113457	broad.mit.edu	37	2	132238049	132238049	+	Silent	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132238049G>A	uc002tsu.3	+	c.783G>A	c.(781-783)CCG>CCA	p.P261P		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	261					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		Ovarian(137;2059 2432 35543 39401)								0.357143	13.373265	13.623917	5	9	KEEP	---	---	---	---	capture		Silent	SNP	132238049	132238049	17302	2	G	A	A	A	509	40	TUBA3D	1	1
NCKAP5	344148	broad.mit.edu	37	2	133541071	133541071	+	Silent	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133541071A>G	uc002ttp.2	-	c.3313T>C	c.(3313-3315)TTA>CTA	p.L1105L	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1105	Ser-rich.						protein binding				0														0.14486	61.251271	87.165545	31	183	KEEP	---	---	---	---	capture		Silent	SNP	133541071	133541071	10622	2	A	G	G	G	37	3	NCKAP5	4	4
STAM2	10254	broad.mit.edu	37	2	153000426	153000426	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:153000426C>T	uc002tyc.3	-	c.619G>A	c.(619-621)GTG>ATG	p.V207M	STAM2_uc010foa.1_Missense_Mutation_p.V207M|STAM2_uc002tyd.2_Missense_Mutation_p.V207M	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	207	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)										0.111111	5.809585	13.887843	6	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153000426	153000426	15768	2	C	T	T	T	260	20	STAM2	2	2
XIRP2	129446	broad.mit.edu	37	2	168100378	168100378	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168100378G>T	uc002udx.2	+	c.2476G>T	c.(2476-2478)GTC>TTC	p.V826F	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V651F|XIRP2_uc010fpq.2_Missense_Mutation_p.V604F|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	651					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.058824	-6.991245	10.334517	5	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168100378	168100378	18011	2	G	T	T	T	572	44	XIRP2	2	2
SLC25A12	8604	broad.mit.edu	37	2	172712358	172712358	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:172712358C>G	uc002uhh.2	-	c.311G>C	c.(310-312)GGA>GCA	p.G104A	SLC25A12_uc010fqh.2_Intron|SLC25A12_uc010zdv.1_Non-coding_Transcript	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	104	2.|EF-hand 2.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)									0.103448	19.335894	46.64137	18	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172712358	172712358	14971	2	C	G	G	G	390	30	SLC25A12	3	3
CHRNA1	1134	broad.mit.edu	37	2	175618340	175618340	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175618340G>T	uc002ujd.2	-	c.744C>A	c.(742-744)TAC>TAA	p.Y248*	CHRNA1_uc002uje.2_Nonsense_Mutation_p.Y223*|CHRNA1_uc002ujf.3_Nonsense_Mutation_p.Y223*	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	248	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)	3														0.089286	0.830619	10.37446	5	51	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	175618340	175618340	3515	2	G	T	T	T	568	44	CHRNA1	5	2
KIAA1715	80856	broad.mit.edu	37	2	176794757	176794757	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176794757C>G	uc010zer.1	-	c.1318G>C	c.(1318-1320)GTT>CTT	p.V440L	KIAA1715_uc002ukc.1_Missense_Mutation_p.V409L|KIAA1715_uc010fqw.1_Missense_Mutation_p.V475L|KIAA1715_uc010zes.1_Missense_Mutation_p.V411L|KIAA1715_uc002ukd.1_Missense_Mutation_p.V286L|KIAA1715_uc010zet.1_Non-coding_Transcript	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	409	Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0793)											0.163043	28.599698	38.503183	15	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176794757	176794757	8564	2	C	G	G	G	260	20	KIAA1715	3	3
PRKRA	8575	broad.mit.edu	37	2	179315752	179315752	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179315752G>T	uc002umf.2	-	c.6C>A	c.(4-6)TCC>TCA	p.S2S	PRKRA_uc002umd.2_5'Flank|PRKRA_uc002ume.2_5'Flank|PRKRA_uc002umg.2_5'UTR|DFNB59_uc002umi.3_5'Flank|DFNB59_uc002umj.3_5'Flank	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	2	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			Melanoma(200;68 3001 23825 48764)								0.142857	4.72613	7.29473	3	18	KEEP	---	---	---	---	capture		Silent	SNP	179315752	179315752	12967	2	G	T	T	T	548	43	PRKRA	2	2
SESTD1	91404	broad.mit.edu	37	2	180014089	180014089	+	Silent	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:180014089T>C	uc002uni.3	-	c.516A>G	c.(514-516)TCA>TCG	p.S172S		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	172					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.162162	10.334157	14.344204	6	31	KEEP	---	---	---	---	capture		Silent	SNP	180014089	180014089	14615	2	T	C	C	C	652	51	SESTD1	4	4
SATB2	23314	broad.mit.edu	37	2	200213787	200213787	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200213787C>A	uc002uuy.1	-	c.810G>T	c.(808-810)CAG>CAT	p.Q270H	SATB2_uc010fsq.1_Missense_Mutation_p.Q152H|SATB2_uc002uuz.1_Missense_Mutation_p.Q270H|SATB2_uc002uva.1_Missense_Mutation_p.Q270H|SATB2_uc002uvb.1_Missense_Mutation_p.Q13H	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	270						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.145455	12.491109	19.118695	8	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200213787	200213787	14335	2	C	A	A	A	259	20	SATB2	2	2
SLC4A3	6508	broad.mit.edu	37	2	220502499	220502499	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220502499G>C	uc002vmo.3	+	c.2813G>C	c.(2812-2814)CGC>CCC	p.R938P	SLC4A3_uc002vmp.3_Missense_Mutation_p.R911P|SLC4A3_uc010fwm.2_Missense_Mutation_p.R461P|SLC4A3_uc010fwn.1_Missense_Mutation_p.R420P	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	911	Cytoplasmic (Potential).|Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(1)|breast(1)	2		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.088889	-0.335253	7.694509	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220502499	220502499	15152	2	G	C	C	C	494	38	SLC4A3	3	3
ALPI	248	broad.mit.edu	37	2	233321897	233321897	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233321897G>C	uc002vst.3	+	c.513G>C	c.(511-513)CAG>CAC	p.Q171H	ALPI_uc002vsu.3_Missense_Mutation_p.Q82H	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	171					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)										0.145833	12.429435	18.188772	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233321897	233321897	546	2	G	C	C	C	438	34	ALPI	3	3
SH3BP4	23677	broad.mit.edu	37	2	235951280	235951280	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:235951280A>T	uc002vvp.2	+	c.1867A>T	c.(1867-1869)AGG>TGG	p.R623W	SH3BP4_uc010fym.2_Missense_Mutation_p.R623W|SH3BP4_uc002vvq.2_Missense_Mutation_p.R623W	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	623					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			ovary(1)|skin(1)	2		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)										0.147059	6.448927	10.528001	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235951280	235951280	14737	2	A	T	T	T	36	3	SH3BP4	3	3
KIF1A	547	broad.mit.edu	37	2	241724517	241724517	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241724517C>G	uc010fzk.2	-	c.609G>C	c.(607-609)AGG>AGC	p.R203S	KIF1A_uc002vzy.2_Missense_Mutation_p.R203S|KIF1A_uc002vzz.1_Missense_Mutation_p.R203S	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	203	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)										0.061728	-4.418925	11.743881	5	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241724517	241724517	8594	2	C	G	G	G	389	30	KIF1A	3	3
C2orf85	285093	broad.mit.edu	37	2	242814287	242814287	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242814287G>T	uc010fzu.1	+	c.580G>T	c.(580-582)GAC>TAC	p.D194Y		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	194						integral to membrane				ovary(1)	1														0.192308	11.076842	13.363039	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242814287	242814287	2292	2	G	T	T	T	481	37	C2orf85	1	1
IFT172	26160	broad.mit.edu	37	2	27707890	27707890	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27707890T>G	uc002rku.2	-	c.291A>C	c.(289-291)GAA>GAC	p.E97D	IFT172_uc002rkw.2_Missense_Mutation_p.E97D|IFT172_uc010yls.1_Missense_Mutation_p.E76D|IFT172_uc010ezc.2_Missense_Mutation_p.E97D|IFT172_uc002rkv.2_Missense_Mutation_p.E97D|IFT172_uc010ylt.1_Missense_Mutation_p.E97D	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	97	WD 2.				cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)													0.161616	18.730916	29.718362	16	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27707890	27707890	7858	2	T	G	G	G	725	56	IFT172	4	4
FAM179A	165186	broad.mit.edu	37	2	29247185	29247185	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29247185G>T	uc010ezl.2	+	c.1798G>T	c.(1798-1800)GTG>TTG	p.V600L	FAM179A_uc010ymm.1_Missense_Mutation_p.V545L|FAM179A_uc002rmr.3_Missense_Mutation_p.V127L	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	hypothetical protein LOC165186	600							binding			ovary(3)|skin(1)	4														0.25	8.05393	8.712816	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29247185	29247185	5711	2	G	T	T	T	572	44	FAM179A	2	2
ADI1	55256	broad.mit.edu	37	2	3502845	3502845	+	Silent	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3502845C>G	uc002qxp.3	-	c.429G>C	c.(427-429)ACG>ACC	p.T143T	ADI1_uc010yiq.1_Non-coding_Transcript	NM_018269	NP_060739	Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	143					L-methionine salvage from methylthioadenosine|oxidation-reduction process	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)										0.102564	5.274137	11.408837	4	35	KEEP	---	---	---	---	capture		Silent	SNP	3502845	3502845	316	2	C	G	G	G	392	31	ADI1	3	3
CRIM1	51232	broad.mit.edu	37	2	36749417	36749417	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:36749417C>A	uc002rpd.2	+	c.2389C>A	c.(2389-2391)CCT>ACT	p.P797T		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	797	Extracellular (Potential).|VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)	2		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)												0.134021	16.794193	29.349217	13	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36749417	36749417	4012	2	C	A	A	A	234	18	CRIM1	2	2
DHX57	90957	broad.mit.edu	37	2	39050300	39050300	+	Silent	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39050300G>A	uc002rrf.2	-	c.3126C>T	c.(3124-3126)GAC>GAT	p.D1042D	DHX57_uc002rrd.3_Silent_p.D426D|DHX57_uc002rre.2_Silent_p.D475D	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1042							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)	2		all_hematologic(82;0.248)				Melanoma(191;1090 2095 4375 23729 47341)								0.164179	21.38014	28.55835	11	56	KEEP	---	---	---	---	capture		Silent	SNP	39050300	39050300	4692	2	G	A	A	A	464	36	DHX57	2	2
SPRED2	200734	broad.mit.edu	37	2	65540932	65540932	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:65540932C>T	uc002sdr.3	-	c.960G>A	c.(958-960)GAG>GAA	p.E320E	SPRED2_uc010fcw.2_Silent_p.E317E	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	320	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|central_nervous_system(1)	2														0.2	57.395906	68.669502	27	108	KEEP	---	---	---	---	capture		Silent	SNP	65540932	65540932	15606	2	C	T	T	T	415	32	SPRED2	2	2
ARHGAP25	9938	broad.mit.edu	37	2	69043458	69043458	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69043458C>T	uc010fdg.2	+	c.845C>T	c.(844-846)CCT>CTT	p.P282L	ARHGAP25_uc002seu.2_Missense_Mutation_p.P281L|ARHGAP25_uc010yql.1_Missense_Mutation_p.P242L|ARHGAP25_uc002sev.2_Missense_Mutation_p.P275L|ARHGAP25_uc002sew.2_Missense_Mutation_p.P274L|ARHGAP25_uc002sex.2_Missense_Mutation_p.P275L|ARHGAP25_uc010fdh.1_Non-coding_Transcript|ARHGAP25_uc002sey.2_Missense_Mutation_p.P8L	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	281	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.084746	0.633481	10.956016	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69043458	69043458	886	2	C	T	T	T	312	24	ARHGAP25	2	2
ALMS1	7840	broad.mit.edu	37	2	73676241	73676241	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73676241C>G	uc002sje.1	+	c.2590C>G	c.(2590-2592)CTT>GTT	p.L864V	ALMS1_uc002sjf.1_Missense_Mutation_p.L820V|ALMS1_uc002sjg.2_Missense_Mutation_p.L250V|ALMS1_uc002sjh.1_Missense_Mutation_p.L250V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	862	7.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.130435	10.317894	16.428604	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73676241	73676241	538	2	C	G	G	G	260	20	ALMS1	3	3
TACR1	6869	broad.mit.edu	37	2	75278382	75278382	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:75278382C>T	uc002sng.2	-	c.928G>A	c.(928-930)GAC>AAC	p.D310N	TACR1_uc002snh.2_Missense_Mutation_p.D310N	NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	310	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	Pancreas(64;62 1268 3653 14826 43765)								0.056818	-6.997268	11.153803	5	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75278382	75278382	16026	2	C	T	T	T	377	29	TACR1	2	2
KIDINS220	57498	broad.mit.edu	37	2	8890429	8890429	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:8890429C>T	uc002qzc.2	-	c.3227G>A	c.(3226-3228)GGA>GAA	p.G1076E	KIDINS220_uc010yiv.1_Missense_Mutation_p.G842E|KIDINS220_uc002qzd.2_Missense_Mutation_p.G1034E|KIDINS220_uc010yiw.1_Missense_Mutation_p.G1077E|KIDINS220_uc002qzb.2_5'UTR|KIDINS220_uc002qze.2_Missense_Mutation_p.G81E	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1076	Cytoplasmic (Potential).				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)													0.191489	18.180224	22.338755	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8890429	8890429	8582	2	C	T	T	T	390	30	KIDINS220	2	2
SYN2	6854	broad.mit.edu	37	3	12183494	12183494	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12183494C>T	uc003bwm.2	+	c.525C>T	c.(523-525)GTC>GTT	p.V175V	SYN2_uc003bwl.1_Silent_p.V175V	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	synapsin II isoform IIa	175					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2														0.117647	4.577363	9.462467	4	30	KEEP	---	---	---	---	capture		Silent	SNP	12183494	12183494	15962	3	C	T	T	T	379	30	SYN2	2	2
SYN2	6854	broad.mit.edu	37	3	12183496	12183496	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12183496G>C	uc003bwm.2	+	c.527G>C	c.(526-528)CGG>CCG	p.R176P	SYN2_uc003bwl.1_Missense_Mutation_p.R176P	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	synapsin II isoform IIa	176					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2														0.142857	6.553192	10.855595	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12183496	12183496	15962	3	G	C	C	C	507	39	SYN2	3	3
DNAJC13	23317	broad.mit.edu	37	3	132198072	132198072	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:132198072G>A	uc003eor.2	+	c.2711G>A	c.(2710-2712)TGC>TAC	p.C904Y		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	904							heat shock protein binding			breast(1)	1														0.069767	-1.909235	6.309181	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132198072	132198072	4815	3	G	A	A	A	598	46	DNAJC13	2	2
PRR23B	389151	broad.mit.edu	37	3	138739120	138739120	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138739120C>A	uc003esy.1	-	c.384G>T	c.(382-384)CTG>CTT	p.L128L		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	128										breast(1)	1														0.12766	8.516548	14.869348	6	41	KEEP	---	---	---	---	capture		Silent	SNP	138739120	138739120	13043	3	C	A	A	A	262	21	PRR23B	2	2
ZIC4	84107	broad.mit.edu	37	3	147108756	147108756	+	Silent	SNP	C	T	T	rs17509456	byFrequency	TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147108756C>T	uc011bno.1	-	c.1116G>A	c.(1114-1116)TCG>TCA	p.S372S	ZIC4_uc003ewc.1_Silent_p.S252S|ZIC4_uc003ewd.1_Silent_p.S322S	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	322						nucleus	DNA binding|zinc ion binding				0														0.236842	21.618226	23.982402	9	29	KEEP	---	---	---	---	capture		Silent	SNP	147108756	147108756	18272	3	C	T	T	T	288	23	ZIC4	1	1
SMC4	10051	broad.mit.edu	37	3	160137168	160137168	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160137168T>A	uc003fdh.2	+	c.1694T>A	c.(1693-1695)CTT>CAT	p.L565H	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.L329H|SMC4_uc003fdi.2_Missense_Mutation_p.L540H|SMC4_uc003fdj.2_Missense_Mutation_p.L565H|SMC4_uc010hwd.2_Missense_Mutation_p.L565H|SMC4_uc003fdl.2_Missense_Mutation_p.L268H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	565	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)											0.193548	11.728903	14.450242	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160137168	160137168	15283	3	T	A	A	A	728	56	SMC4	3	3
ABCC5	10057	broad.mit.edu	37	3	183665138	183665138	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183665138C>A	uc003fmg.2	-	c.3388G>T	c.(3388-3390)GGT>TGT	p.G1130C	ABCC5_uc011bqt.1_Missense_Mutation_p.G658C|ABCC5_uc010hxl.2_Missense_Mutation_p.G1087C	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1130	ABC transmembrane type-1 2.|Helical; (Potential).					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.166667	7.986107	10.513415	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183665138	183665138	57	3	C	A	A	A	286	22	ABCC5	2	2
EHHADH	1962	broad.mit.edu	37	3	184910174	184910174	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184910174C>A	uc003fpf.2	-	c.2012G>T	c.(2011-2013)GGG>GTG	p.G671V	EHHADH_uc011brs.1_Missense_Mutation_p.G575V	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	671						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)									0.209677	29.557356	34.381775	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184910174	184910174	5171	3	C	A	A	A	286	22	EHHADH	2	2
KCNH8	131096	broad.mit.edu	37	3	19295179	19295179	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19295179C>T	uc003cbk.1	+	c.110C>T	c.(109-111)GCT>GTT	p.A37V	KCNH8_uc011awe.1_Missense_Mutation_p.A37V|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	37	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.142857	28.345447	45.539134	20	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19295179	19295179	8343	3	C	T	T	T	364	28	KCNH8	2	2
CNTN4	152330	broad.mit.edu	37	3	2787250	2787250	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:2787250G>T	uc003bpc.2	+	c.227G>T	c.(226-228)CGC>CTC	p.R76L	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.R76L	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	76	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.074766	-0.569703	19.271373	8	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2787250	2787250	3781	3	G	T	T	T	494	38	CNTN4	1	1
CCR4	1233	broad.mit.edu	37	3	32995942	32995942	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:32995942C>T	uc003cfg.1	+	c.1028C>T	c.(1027-1029)CCC>CTC	p.P343L		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	343	Cytoplasmic (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane					0										38				0.090909	1.000736	6.567962	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32995942	32995942	3070	3	C	T	T	T	286	22	CCR4	2	2
ARPP21	10777	broad.mit.edu	37	3	35748527	35748527	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:35748527T>A	uc011axy.1	+	c.748T>A	c.(748-750)TTT>ATT	p.F250I	ARPP21_uc003cga.2_Missense_Mutation_p.F250I|ARPP21_uc003cgb.2_Missense_Mutation_p.F250I|ARPP21_uc003cgf.2_Missense_Mutation_p.F86I	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	250						cytoplasm	nucleic acid binding			ovary(2)	2														0.101695	2.657904	12.157166	6	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35748527	35748527	996	3	T	A	A	A	780	60	ARPP21	3	3
DCLK3	85443	broad.mit.edu	37	3	36779123	36779123	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:36779123C>A	uc003cgi.2	-	c.1028G>T	c.(1027-1029)CGG>CTG	p.R343L		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	343					protein phosphorylation	cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|ovary(1)|breast(1)|kidney(1)	8										128				0.275362	46.062792	49.232093	19	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36779123	36779123	4464	3	C	A	A	A	299	23	DCLK3	1	1
ENTPD3	956	broad.mit.edu	37	3	40468909	40468909	+	Silent	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:40468909G>A	uc003ckd.3	+	c.1500G>A	c.(1498-1500)CTG>CTA	p.L500L	ENTPD3_uc010hhy.2_Silent_p.L500L	NM_001248	NP_001239	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase	500	Helical; (Potential).					integral to membrane	ATP binding|hydrolase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)										0.105263	4.117702	12.946962	6	51	KEEP	---	---	---	---	capture		Silent	SNP	40468909	40468909	5333	3	G	A	A	A	613	48	ENTPD3	2	2
TGM4	7047	broad.mit.edu	37	3	44951735	44951735	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44951735T>G	uc003coc.3	+	c.1481T>G	c.(1480-1482)CTT>CGT	p.L494R		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	494					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)									0.162791	28.29582	37.590168	14	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44951735	44951735	16360	3	T	G	G	G	728	56	TGM4	4	4
RBM15B	29890	broad.mit.edu	37	3	51429993	51429993	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51429993A>T	uc003dbd.2	+	c.1163A>T	c.(1162-1164)GAC>GTC	p.D388V		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	388	RRM 2.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)										0.258065	15.533008	17.226893	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51429993	51429993	13578	3	A	T	T	T	130	10	RBM15B	3	3
POC1A	25886	broad.mit.edu	37	3	52185109	52185109	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52185109G>A	uc003dcu.2	-	c.26C>T	c.(25-27)CCC>CTC	p.P9L	POC1A_uc003dcv.2_5'UTR|POC1A_uc003dcw.2_Missense_Mutation_p.P9L	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	9						centriole|microtubule basal body					0														0.102941	6.706781	17.357309	7	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52185109	52185109	12603	3	G	A	A	A	559	43	POC1A	2	2
STAB1	23166	broad.mit.edu	37	3	52540712	52540712	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52540712G>T	uc003dej.2	+	c.1835G>T	c.(1834-1836)CGC>CTC	p.R612L	STAB1_uc003dei.1_Missense_Mutation_p.R612L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	612	Extracellular (Potential).|FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)										0.272727	7.524435	8.033918	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52540712	52540712	15755	3	G	T	T	T	494	38	STAB1	1	1
CACNA2D3	55799	broad.mit.edu	37	3	54914873	54914873	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:54914873A>T	uc003dhf.2	+	c.1895A>T	c.(1894-1896)AAT>ATT	p.N632I	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.N538I|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.N366I	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	632	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)										0.117978	27.470291	52.980648	21	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54914873	54914873	2666	3	A	T	T	T	52	4	CACNA2D3	3	3
ADAMTS9	56999	broad.mit.edu	37	3	64527519	64527519	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:64527519T>C	uc003dmg.2	-	c.5192A>G	c.(5191-5193)TAT>TGT	p.Y1731C	ADAMTS9_uc011bfo.1_Missense_Mutation_p.Y1703C|ADAMTS9_uc011bfp.1_Missense_Mutation_p.Y642C	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1731	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)										0.198113	53.018923	62.008591	21	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64527519	64527519	274	3	T	C	C	C	637	49	ADAMTS9	4	4
EPHA6	285220	broad.mit.edu	37	3	96706660	96706660	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:96706660G>T	uc010how.1	+	c.937G>T	c.(937-939)GAT>TAT	p.D313Y	EPHA6_uc003drp.1_Missense_Mutation_p.D313Y	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	218	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity	p.D219H(1)		central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.174699	56.165972	72.747926	29	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96706660	96706660	5364	3	G	T	T	T	585	45	EPHA6	2	2
ADH1C	126	broad.mit.edu	37	4	100268947	100268947	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100268947C>A	uc003huu.2	-	c.75G>T	c.(73-75)GAG>GAT	p.E25D		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	25					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)									0.065217	-2.512423	6.517936	3	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100268947	100268947	310	4	C	A	A	A	311	24	ADH1C	2	2
CENPE	1062	broad.mit.edu	37	4	104074252	104074252	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104074252T>C	uc003hxb.1	-	c.3189A>G	c.(3187-3189)ATA>ATG	p.I1063M	CENPE_uc003hxc.1_Missense_Mutation_p.I1038M	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1063	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)										0.1	4.27004	10.66245	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104074252	104074252	3363	4	T	C	C	C	680	53	CENPE	4	4
ALPK1	80216	broad.mit.edu	37	4	113353354	113353354	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113353354G>T	uc003iap.3	+	c.2651G>T	c.(2650-2652)AGG>ATG	p.R884M	ALPK1_uc003ian.3_Missense_Mutation_p.R884M|ALPK1_uc011cfx.1_Missense_Mutation_p.R806M|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.R712M	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	884					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)						252				0.126984	10.261588	18.809859	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113353354	113353354	547	4	G	T	T	T	455	35	ALPK1	2	2
FAT4	79633	broad.mit.edu	37	4	126242334	126242334	+	Silent	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126242334T>C	uc003ifj.3	+	c.4768T>C	c.(4768-4770)TTG>CTG	p.L1590L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1590	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.067308	-4.038188	16.124873	7	97	KEEP	---	---	---	---	capture		Silent	SNP	126242334	126242334	5928	4	T	C	C	C	777	60	FAT4	4	4
PCDH10	57575	broad.mit.edu	37	4	134073399	134073399	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134073399C>A	uc003iha.2	+	c.2104C>A	c.(2104-2106)CCC>ACC	p.P702T	PCDH10_uc003igz.2_Missense_Mutation_p.P702T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	702	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.116279	5.24968	11.477828	5	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134073399	134073399	11927	4	C	A	A	A	286	22	PCDH10	2	2
FBXL5	26234	broad.mit.edu	37	4	15627285	15627285	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:15627285C>A	uc003goc.1	-	c.1440G>T	c.(1438-1440)TGG>TGT	p.W480C	FBXL5_uc010idw.1_Missense_Mutation_p.W393C|FBXL5_uc003gob.1_Missense_Mutation_p.W354C|FBXL5_uc010idx.1_Missense_Mutation_p.W479C|FBXL5_uc003god.1_Missense_Mutation_p.W463C|FBXL5_uc010idy.1_Missense_Mutation_p.W480C	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	480	LRR 4.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0														0.22973	36.946104	41.897484	17	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15627285	15627285	5959	4	C	A	A	A	390	30	FBXL5	2	2
FBXL5	26234	broad.mit.edu	37	4	15627406	15627406	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:15627406G>C	uc003goc.1	-	c.1319C>G	c.(1318-1320)TCC>TGC	p.S440C	FBXL5_uc010idw.1_Missense_Mutation_p.S353C|FBXL5_uc003gob.1_Missense_Mutation_p.S314C|FBXL5_uc010idx.1_Missense_Mutation_p.S439C|FBXL5_uc003god.1_Missense_Mutation_p.S423C|FBXL5_uc010idy.1_Missense_Mutation_p.S440C	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	440					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0														0.191011	40.230139	48.166742	17	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15627406	15627406	5959	4	G	C	C	C	533	41	FBXL5	3	3
PPARGC1A	10891	broad.mit.edu	37	4	23815782	23815782	+	Nonsense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:23815782T>A	uc003gqs.2	-	c.1324A>T	c.(1324-1326)AAG>TAG	p.K442*	PPARGC1A_uc003gqt.2_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	442					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription mediator activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)	6		Breast(46;0.0503)				Esophageal Squamous(29;694 744 13796 34866 44181)				410				0.166667	14.967458	20.029358	8	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23815782	23815782	12730	4	T	A	A	A	819	63	PPARGC1A	5	3
GABRB1	2560	broad.mit.edu	37	4	47322210	47322211	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47322210_47322211CC>AA	uc003gxh.2	+	c.528_529CC>AA	c.(526-531)ACCCTG>ACAATG	p.L177M	GABRB1_uc011bze.1_Missense_Mutation_p.L107M	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	177	Extracellular (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			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.191489	20.248239	24.427294	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	47322210	47322211	6417	4	CC	AA	AA	AA	275	22	GABRB1	2	2
PDGFRA	5156	broad.mit.edu	37	4	55127425	55127425	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55127425C>G	uc003han.3	+	c.213C>G	c.(211-213)ATC>ATG	p.I71M	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.I71M|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	71	Ig-like C2-type 1.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.179104	59.823918	72.801195	24	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55127425	55127425	12082	4	C	G	G	G	369	29	PDGFRA	3	3
KDR	3791	broad.mit.edu	37	4	55955049	55955049	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55955049C>G	uc003has.2	-	c.3496G>C	c.(3496-3498)GCT>CCT	p.A1166P	KDR_uc003hat.1_Missense_Mutation_p.A1166P	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1166	Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.190476	9.486982	11.368211	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55955049	55955049	8445	4	C	G	G	G	364	28	KDR	3	3
TECRL	253017	broad.mit.edu	37	4	65188410	65188410	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:65188410G>T	uc003hcv.2	-	c.432C>A	c.(430-432)ACC>ACA	p.T144T	TECRL_uc003hcw.2_Silent_p.T144T	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	144	Helical; (Potential).				lipid metabolic process|oxidation-reduction process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0														0.263158	24.494579	26.456705	10	28	KEEP	---	---	---	---	capture		Silent	SNP	65188410	65188410	16273	4	G	T	T	T	600	47	TECRL	2	2
TMPRSS11D	9407	broad.mit.edu	37	4	68699044	68699044	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68699044G>T	uc003hdq.2	-	c.570C>A	c.(568-570)GGC>GGA	p.G190G	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_5'UTR|TMPRSS11D_uc011caj.1_Silent_p.G73G	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	190	Peptidase S1.|Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.119048	16.551413	34.497895	15	111	KEEP	---	---	---	---	capture		Silent	SNP	68699044	68699044	16782	4	G	T	T	T	587	46	TMPRSS11D	2	2
ZNF595	152687	broad.mit.edu	37	4	87020	87020	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87020C>A	uc003fzv.1	+	c.1626C>A	c.(1624-1626)GGC>GGA	p.G542G	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Silent_p.G310G|ZNF595_uc011but.1_Silent_p.G310G	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	542					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)										0.083333	1.532625	12.114296	5	55	KEEP	---	---	---	---	capture		Silent	SNP	87020	87020	18620	4	C	A	A	A	325	25	ZNF595	2	2
DGKQ	1609	broad.mit.edu	37	4	957013	957013	+	Silent	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:957013G>C	uc003gbw.2	-	c.1800C>G	c.(1798-1800)CTC>CTG	p.L600L	DGKQ_uc010ibn.2_Silent_p.L587L	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	600	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			Esophageal Squamous(17;537 645 4447 26373)								0.282051	33.11098	34.773927	11	28	KEEP	---	---	---	---	capture		Silent	SNP	957013	957013	4652	4	G	C	C	C	574	45	DGKQ	3	3
NKD2	85409	broad.mit.edu	37	5	1038187	1038188	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1038187_1038188CC>AA	uc003jbt.1	+	c.1055_1056CC>AA	c.(1054-1056)GCC>GAA	p.A352E	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	naked cuticle homolog 2	352	Interaction with TGFA.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding				0	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)							126				0.185185	10.764067	13.269048	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	1038187	1038188	10843	5	CC	AA	AA	AA	338	26	NKD2	2	2
NKD2	85409	broad.mit.edu	37	5	1038314	1038314	+	Silent	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1038314G>A	uc003jbt.1	+	c.1182G>A	c.(1180-1182)TCG>TCA	p.S394S	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	naked cuticle homolog 2	394					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding				0	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)							126				0.230769	7.619353	8.482056	3	10	KEEP	---	---	---	---	capture		Silent	SNP	1038314	1038314	10843	5	G	A	A	A	483	38	NKD2	1	1
CTNND2	1501	broad.mit.edu	37	5	11364914	11364914	+	Silent	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11364914G>C	uc003jfa.1	-	c.1266C>G	c.(1264-1266)CCC>CCG	p.P422P	CTNND2_uc010itt.2_Silent_p.P331P|CTNND2_uc011cmy.1_Silent_p.P85P|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	422	ARM 1.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.148936	12.293796	17.851922	7	40	KEEP	---	---	---	---	capture		Silent	SNP	11364914	11364914	4179	5	G	C	C	C	600	47	CTNND2	3	3
DMXL1	1657	broad.mit.edu	37	5	118469421	118469421	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118469421C>T	uc010jcl.1	+	c.1802C>T	c.(1801-1803)TCA>TTA	p.S601L	DMXL1_uc003ksd.2_Missense_Mutation_p.S601L|DMXL1_uc003ksc.1_Missense_Mutation_p.S601L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	601	WD 5.									ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)										0.063291	-7.089209	8.740977	5	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118469421	118469421	4776	5	C	T	T	T	377	29	DMXL1	2	2
KLHL3	26249	broad.mit.edu	37	5	137013243	137013243	+	Silent	SNP	T	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137013243T>G	uc010jek.2	-	c.627A>C	c.(625-627)TCA>TCC	p.S209S	KLHL3_uc003lbr.3_Silent_p.S127S|KLHL3_uc011cyd.1_Non-coding_Transcript|KLHL3_uc010jem.1_Silent_p.S169S|KLHL3_uc010jen.1_Non-coding_Transcript|KLHL3_uc003lbs.1_Silent_p.S77S	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	209						cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)										0.067568	-3.159159	11.144972	5	69	KEEP	---	---	---	---	capture		Silent	SNP	137013243	137013243	8696	5	T	G	G	G	704	55	KLHL3	4	4
PCDHA2	56146	broad.mit.edu	37	5	140176239	140176239	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140176239G>T	uc003lhd.2	+	c.1690G>T	c.(1690-1692)GCA>TCA	p.A564S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A564S|PCDHA2_uc011czy.1_Missense_Mutation_p.A564S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	564	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.121212	10.362494	19.635173	8	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140176239	140176239	11944	5	G	T	T	T	546	42	PCDHA2	2	2
PCDHB6	56130	broad.mit.edu	37	5	140531034	140531034	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140531034A>T	uc003lir.2	+	c.1196A>T	c.(1195-1197)TAC>TTC	p.Y399F	PCDHB6_uc011dah.1_Missense_Mutation_p.Y263F	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	399	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.064935	-4.069433	11.054829	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140531034	140531034	11966	5	A	T	T	T	182	14	PCDHB6	3	3
PCDHB14	56122	broad.mit.edu	37	5	140603978	140603978	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140603978G>T	uc003ljb.2	+	c.901G>T	c.(901-903)GTT>TTT	p.V301F	PCDHB14_uc011dal.1_Missense_Mutation_p.V148F	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	301	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			Ovarian(141;50 1831 27899 33809 37648)								0.196078	22.23156	26.614131	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140603978	140603978	11959	5	G	T	T	T	468	36	PCDHB14	2	2
PCDH12	51294	broad.mit.edu	37	5	141336110	141336110	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141336110C>T	uc003llx.2	-	c.1307G>A	c.(1306-1308)GGA>GAA	p.G436E		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	436	Cadherin 4.|Extracellular (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.16129	25.583923	35.725998	15	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141336110	141336110	11930	5	C	T	T	T	390	30	PCDH12	2	2
GEMIN5	25929	broad.mit.edu	37	5	154271093	154271093	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154271093C>T	uc003lvx.3	-	c.3970G>A	c.(3970-3972)GAA>AAA	p.E1324K	GEMIN5_uc011ddk.1_Missense_Mutation_p.E1323K	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1324					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.071429	-5.961436	12.615683	7	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154271093	154271093	6599	5	C	T	T	T	377	29	GEMIN5	2	2
HAVCR2	84868	broad.mit.edu	37	5	156522332	156522332	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156522332C>A	uc003lwk.1	-	c.661G>T	c.(661-663)GCT>TCT	p.A221S		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	221	Helical; (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.196078	20.821132	25.213438	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156522332	156522332	7256	5	C	A	A	A	351	27	HAVCR2	1	1
HAVCR2	84868	broad.mit.edu	37	5	156533648	156533648	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156533648G>T	uc003lwk.1	-	c.384C>A	c.(382-384)GTC>GTA	p.V128V	HAVCR2_uc003lwl.2_Silent_p.V128V	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	128	Extracellular (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.175	13.697856	17.686362	7	33	KEEP	---	---	---	---	capture		Silent	SNP	156533648	156533648	7256	5	G	T	T	T	574	45	HAVCR2	2	2
DOCK2	1794	broad.mit.edu	37	5	169446070	169446070	+	Silent	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169446070C>T	uc003maf.2	+	c.3339C>T	c.(3337-3339)GAC>GAT	p.D1113D	DOCK2_uc011der.1_Non-coding_Transcript|DOCK2_uc010jjm.2_Silent_p.D605D	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1113	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.078947	-2.983266	24.513625	12	140	KEEP	---	---	---	---	capture		Silent	SNP	169446070	169446070	4871	5	C	T	T	T	220	17	DOCK2	2	2
FGF18	8817	broad.mit.edu	37	5	170883632	170883632	+	Nonsense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:170883632G>A	uc003mbk.2	+	c.447G>A	c.(445-447)TGG>TGA	p.W149*		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	149					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.089109	2.597667	19.82285	9	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	170883632	170883632	6083	5	G	A	A	A	572	44	FGF18	5	2
C5orf41	153222	broad.mit.edu	37	5	172537595	172537595	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:172537595C>A	uc003mch.2	+	c.1488C>A	c.(1486-1488)CTC>CTA	p.L496L	C5orf41_uc011dfd.1_Silent_p.L496L	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	496					regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.065217	-2.691236	6.319686	3	43	KEEP	---	---	---	---	capture		Silent	SNP	172537595	172537595	2398	5	C	A	A	A	379	30	C5orf41	2	2
OR2V2	285659	broad.mit.edu	37	5	180582367	180582367	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180582367G>C	uc011dhj.1	+	c.425G>C	c.(424-426)TGT>TCT	p.C142S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.072289	-0.590055	15.014354	6	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180582367	180582367	11437	5	G	C	C	C	624	48	OR2V2	3	3
CDH18	1016	broad.mit.edu	37	5	19503202	19503202	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19503202C>G	uc003jgc.2	-	c.1529G>C	c.(1528-1530)AGT>ACT	p.S510T	CDH18_uc003jgd.2_Missense_Mutation_p.S510T|CDH18_uc011cnm.1_Missense_Mutation_p.S510T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	510	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.083333	2.674748	13.217611	5	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19503202	19503202	3232	5	C	G	G	G	260	20	CDH18	3	3
CDH12	1010	broad.mit.edu	37	5	21755753	21755753	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21755753C>T	uc010iuc.2	-	c.1832G>A	c.(1831-1833)GGA>GAA	p.G611E	CDH12_uc011cno.1_Missense_Mutation_p.G571E|CDH12_uc003jgk.2_Missense_Mutation_p.G611E	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	611	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.069767	-1.495666	6.709407	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21755753	21755753	3227	5	C	T	T	T	390	30	CDH12	2	2
PRDM9	56979	broad.mit.edu	37	5	23527423	23527423	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23527423C>G	uc003jgo.2	+	c.2226C>G	c.(2224-2226)CAC>CAG	p.H742Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	742	C2H2-type 9.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.105263	5.913314	14.737139	6	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23527423	23527423	12906	5	C	G	G	G	220	17	PRDM9	3	3
CDH9	1007	broad.mit.edu	37	5	26915863	26915863	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26915863C>A	uc003jgs.1	-	c.398G>T	c.(397-399)AGA>ATA	p.R133I	CDH9_uc010iug.2_Missense_Mutation_p.R133I	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	133	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.17619	62.889817	83.74726	37	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26915863	26915863	3246	5	C	A	A	A	416	32	CDH9	2	2
IRX2	153572	broad.mit.edu	37	5	2748740	2748740	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:2748740G>A	uc003jda.2	-	c.1082C>T	c.(1081-1083)GCC>GTC	p.A361V	IRX2_uc003jdb.2_Missense_Mutation_p.A361V	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	361					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)										0.235294	6.476419	7.582909	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2748740	2748740	8148	5	G	A	A	A	546	42	IRX2	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33649002	33649002	+	Silent	SNP	G	T	T	rs111792611		TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33649002G>T	uc003jia.1	-	c.1404C>A	c.(1402-1404)CCC>CCA	p.P468P	ADAMTS12_uc010iuq.1_Silent_p.P468P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	468	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.147541	15.837282	23.11238	9	52	KEEP	---	---	---	---	capture		Silent	SNP	33649002	33649002	258	5	G	T	T	T	496	39	ADAMTS12	1	1
ADAMTS12	81792	broad.mit.edu	37	5	33662024	33662024	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33662024G>T	uc003jia.1	-	c.1037C>A	c.(1036-1038)ACC>AAC	p.T346N	ADAMTS12_uc010iuq.1_Missense_Mutation_p.T346N	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	346	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.153846	22.863744	31.789783	12	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33662024	33662024	258	5	G	T	T	T	572	44	ADAMTS12	2	2
FIG4	9896	broad.mit.edu	37	6	110037721	110037721	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110037721A>T	uc003ptt.2	+	c.239A>T	c.(238-240)CAG>CTG	p.Q80L	FIG4_uc011eau.1_Intron	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	80					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)										0.158416	32.057887	43.27279	16	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110037721	110037721	6126	6	A	T	T	T	91	7	FIG4	3	3
SLC35F1	222553	broad.mit.edu	37	6	118588223	118588223	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:118588223C>A	uc003pxx.3	+	c.543C>A	c.(541-543)TAC>TAA	p.Y181*	SLC35F1_uc003pxy.1_5'UTR	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	181					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)										0.295019	215.941424	225.777938	77	184	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	118588223	118588223	15085	6	C	A	A	A	220	17	SLC35F1	5	2
PTPRK	5796	broad.mit.edu	37	6	128294223	128294223	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128294223C>G	uc011ebu.1	-	c.4279G>C	c.(4279-4281)GTT>CTT	p.V1427L	PTPRK_uc003qbj.2_Missense_Mutation_p.V1405L|PTPRK_uc010kfc.2_Missense_Mutation_p.V1411L|PTPRK_uc003qbk.2_Missense_Mutation_p.V1404L	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1404	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)										0.299065	96.354806	100.217891	32	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128294223	128294223	13262	6	C	G	G	G	221	17	PTPRK	3	3
MED23	9439	broad.mit.edu	37	6	131927661	131927661	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:131927661T>G	uc003qcs.1	-	c.1325A>C	c.(1324-1326)AAG>ACG	p.K442T	MED23_uc003qcq.2_Missense_Mutation_p.K448T|MED23_uc011eca.1_Missense_Mutation_p.K83T|MED23_uc003qct.1_Missense_Mutation_p.K448T|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	442					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity|transcription regulator activity			ovary(1)|kidney(1)	2	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)										0.113636	6.147025	12.622589	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131927661	131927661	9830	6	T	G	G	G	728	56	MED23	4	4
SLC22A1	6580	broad.mit.edu	37	6	160543347	160543347	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160543347A>G	uc003qtc.2	+	c.380A>G	c.(379-381)TAT>TGT	p.Y127C	SLC22A1_uc003qtd.2_Missense_Mutation_p.Y127C	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	127	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)										0.385965	64.420115	65.073792	22	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160543347	160543347	14936	6	A	G	G	G	208	16	SLC22A1	4	4
OR11A1	26531	broad.mit.edu	37	6	29394972	29394972	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29394972G>T	uc003nmg.2	-	c.447C>A	c.(445-447)ACC>ACA	p.T149T		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	149	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.355932	54.031878	55.121002	21	38	KEEP	---	---	---	---	capture		Silent	SNP	29394972	29394972	11330	6	G	T	T	T	444	35	OR11A1	2	2
CLIC1	1192	broad.mit.edu	37	6	31698644	31698644	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31698644T>A	uc003nwr.2	-	c.701A>T	c.(700-702)GAG>GTG	p.E234V	DDAH2_uc003nwp.2_5'Flank|DDAH2_uc003nwq.2_5'Flank|CLIC1_uc003rje.2_Missense_Mutation_p.E234V	NM_001288	NP_001279	O00299	CLIC1_HUMAN	chloride intracellular channel 1	234					signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2														0.195652	19.570253	23.526718	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31698644	31698644	3663	6	T	A	A	A	702	54	CLIC1	3	3
PRICKLE4	29964	broad.mit.edu	37	6	41753093	41753093	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41753093C>A	uc011duf.1	+	c.397C>A	c.(397-399)CCA>ACA	p.P133T	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	over-expressed breast tumor protein	93	LIM zinc-binding 1.					nucleus	zinc ion binding				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)											0.111111	2.309707	6.347125	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41753093	41753093	12932	6	C	A	A	A	338	26	PRICKLE4	2	2
CDYL	9425	broad.mit.edu	37	6	4935956	4935956	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:4935956A>G	uc003mwi.2	+	c.1061A>G	c.(1060-1062)CAC>CGC	p.H354R	CDYL_uc003mwj.2_Missense_Mutation_p.H300R|CDYL_uc003mwk.2_Missense_Mutation_p.H65R|CDYL_uc011dhx.1_Missense_Mutation_p.H168R|CDYL_uc011dhy.1_Missense_Mutation_p.H168R	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	354					chromatin assembly or disassembly|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	chromatin|nucleus	chromatin binding|histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)										0.069767	-4.489497	11.925759	6	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4935956	4935956	3318	6	A	G	G	G	78	6	CDYL	4	4
TFAP2D	83741	broad.mit.edu	37	6	50683152	50683152	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50683152G>T	uc003paf.2	+	c.363G>T	c.(361-363)GCG>GCT	p.A121A	TFAP2D_uc011dwt.1_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	121					regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)													0.302326	69.494916	72.511011	26	60	KEEP	---	---	---	---	capture		Silent	SNP	50683152	50683152	16318	6	G	T	T	T	483	38	TFAP2D	1	1
COL21A1	81578	broad.mit.edu	37	6	55924883	55924883	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55924883C>G	uc003pcs.2	-	c.2541G>C	c.(2539-2541)TTG>TTC	p.L847F	COL21A1_uc010jzz.2_Missense_Mutation_p.L232F|COL21A1_uc011dxg.1_Missense_Mutation_p.L220F|COL21A1_uc011dxh.1_Missense_Mutation_p.L198F|COL21A1_uc003pcr.2_Missense_Mutation_p.L204F	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	847	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)											0.212766	26.625042	30.20723	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55924883	55924883	3818	6	C	G	G	G	324	25	COL21A1	3	3
RREB1	6239	broad.mit.edu	37	6	7230298	7230298	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7230298G>C	uc003mxb.2	+	c.1966G>C	c.(1966-1968)GGG>CGG	p.G656R	RREB1_uc003mxc.2_Missense_Mutation_p.G656R|RREB1_uc010jnx.2_Missense_Mutation_p.G656R	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	656	C2H2-type 7.				multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.121212	6.275885	10.916397	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7230298	7230298	14159	6	G	C	C	C	559	43	RREB1	3	3
ELOVL4	6785	broad.mit.edu	37	6	80634726	80634726	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80634726C>A	uc003pja.3	-	c.312G>T	c.(310-312)GCG>GCT	p.A104A	ELOVL4_uc011dyt.1_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	elongation of very long chain fatty acids-like	104					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process|visual perception	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			ovary(1)	1		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)									0.25	36.937089	40.109171	14	42	KEEP	---	---	---	---	capture		Silent	SNP	80634726	80634726	5268	6	C	A	A	A	288	23	ELOVL4	1	1
GABRR1	2569	broad.mit.edu	37	6	89895098	89895098	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89895098T>C	uc003pna.2	-	c.727A>G	c.(727-729)ATC>GTC	p.I243V	GABRR1_uc011dzv.1_Missense_Mutation_p.I220V	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	243	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)									0.069767	-1.709229	14.71602	6	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89895098	89895098	6427	6	T	C	C	C	650	50	GABRR1	4	4
MUC17	140453	broad.mit.edu	37	7	100680387	100680387	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100680387C>T	uc003uxp.1	+	c.5690C>T	c.(5689-5691)CCT>CTT	p.P1897L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1897	Extracellular (Potential).|30.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.251748	194.768319	210.785084	72	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100680387	100680387	10368	7	C	T	T	T	312	24	MUC17	2	2
TRIM56	81844	broad.mit.edu	37	7	100731915	100731915	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100731915A>T	uc003uxq.2	+	c.1322A>T	c.(1321-1323)CAG>CTG	p.Q441L	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	441					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					Ovarian(89;1092 1379 22756 38989 39611)								0.163265	15.468604	20.749439	8	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100731915	100731915	17076	7	A	T	T	T	91	7	TRIM56	3	3
GPR22	2845	broad.mit.edu	37	7	107114603	107114603	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107114603C>A	uc003vef.2	+	c.98C>A	c.(97-99)CCA>CAA	p.P33Q	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	NM_005295	NP_005286	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	33	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1														0.276786	81.068925	86.099214	31	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107114603	107114603	6957	7	C	A	A	A	273	21	GPR22	2	2
GPR85	54329	broad.mit.edu	37	7	112724196	112724196	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112724196A>T	uc010ljv.2	-	c.581T>A	c.(580-582)ATC>AAC	p.I194N	GPR85_uc003vgp.1_Missense_Mutation_p.I194N|GPR85_uc003vgq.2_Missense_Mutation_p.I194N|GPR85_uc010ljw.1_Missense_Mutation_p.I194N	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	194	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.117647	6.750636	14.048595	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112724196	112724196	6990	7	A	T	T	T	156	12	GPR85	3	3
THSD7A	221981	broad.mit.edu	37	7	11485770	11485770	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11485770G>T	uc003ssf.3	-	c.2982C>A	c.(2980-2982)TGC>TGA	p.C994*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	994	TSP type-1 10.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.063953	-11.478389	22.60135	11	161	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11485770	11485770	16407	7	G	T	T	T	490	38	THSD7A	5	1
MGAM	8972	broad.mit.edu	37	7	141727437	141727437	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141727437T>A	uc003vwy.2	+	c.1123T>A	c.(1123-1125)TAC>AAC	p.Y375N		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	375	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.142857	11.816418	17.818833	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141727437	141727437	9931	7	T	A	A	A	689	53	MGAM	3	3
PRSS1	5644	broad.mit.edu	37	7	142458454	142458454	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142458454G>A	uc003wak.2	+	c.89G>A	c.(88-90)TGT>TAT	p.C30Y	TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	30	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)											0.105634	12.685869	34.574282	15	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142458454	142458454	13064	7	G	A	A	A	624	48	PRSS1	2	2
SSPO	23145	broad.mit.edu	37	7	149525007	149525007	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149525007G>T	uc010lpk.2	+	c.14915G>T	c.(14914-14916)CGC>CTC	p.R4972L	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Non-coding_Transcript|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Non-coding_Transcript	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4972					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.090909	1.618088	7.169167	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149525007	149525007	15705	7	G	T	T	T	494	38	SSPO	1	1
GIMAP5	55340	broad.mit.edu	37	7	150439330	150439330	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150439330A>C	uc003whr.1	+	c.103A>C	c.(103-105)AAA>CAA	p.K35Q	GIMAP5_uc010lpu.2_5'UTR	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	35	Cytoplasmic (Potential).|GTP (Potential).					integral to membrane|mitochondrial outer membrane	GTP binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.193548	25.247371	30.707933	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150439330	150439330	6650	7	A	C	C	C	65	5	GIMAP5	4	4
PTPRN2	5799	broad.mit.edu	37	7	157926523	157926523	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157926523C>G	uc011kwa.1	-	c.1471G>C	c.(1471-1473)GCT>CCT	p.A491P	PTPRN2_uc003wno.2_Missense_Mutation_p.A468P|PTPRN2_uc003wnp.2_Missense_Mutation_p.A451P|PTPRN2_uc003wnq.2_Missense_Mutation_p.A468P|PTPRN2_uc003wnr.2_Missense_Mutation_p.A430P	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	468	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)										0.128571	14.444168	23.836462	9	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157926523	157926523	13265	7	C	G	G	G	351	27	PTPRN2	3	3
AMZ1	155185	broad.mit.edu	37	7	2740344	2740344	+	Silent	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2740344C>A	uc003smr.1	+	c.259C>A	c.(259-261)CGG>AGG	p.R87R	AMZ1_uc003sms.1_Silent_p.R87R|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	87							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)										0.375	89.477001	90.555986	30	50	KEEP	---	---	---	---	capture		Silent	SNP	2740344	2740344	599	7	C	A	A	A	295	23	AMZ1	1	1
SEPT7	989	broad.mit.edu	37	7	35913313	35913313	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:35913313G>T	uc010kxc.2	+	c.440G>T	c.(439-441)CGA>CTA	p.R147L	SEPT7_uc011kat.1_Missense_Mutation_p.R146L|SEPT7_uc011kau.1_Missense_Mutation_p.R111L|SEPT7_uc011kav.1_Missense_Mutation_p.R94L|SEPT7_uc003tey.2_5'UTR	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	cell division cycle 10 isoform 1	147					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity				0														0.325581	42.040357	43.198314	14	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35913313	35913313	14555	7	G	T	T	T	481	37	SEPT7	1	1
ZMIZ2	83637	broad.mit.edu	37	7	44801467	44801467	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44801467G>T	uc003tlr.2	+	c.1559G>T	c.(1558-1560)CGC>CTC	p.R520L	ZMIZ2_uc003tlq.2_Missense_Mutation_p.R462L|ZMIZ2_uc003tls.2_Missense_Mutation_p.R494L|ZMIZ2_uc003tlt.2_Missense_Mutation_p.R143L|ZMIZ2_uc010kyj.2_Missense_Mutation_p.R42L	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	520					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						NSCLC(20;604 852 1948 16908 50522)								0.142857	9.073148	13.356636	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44801467	44801467	18288	7	G	T	T	T	494	38	ZMIZ2	1	1
POM121L12	285877	broad.mit.edu	37	7	53104055	53104055	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53104055C>A	uc003tpz.2	+	c.691C>A	c.(691-693)CCC>ACC	p.P231T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	231											0														0.22	23.91052	27.512783	11	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53104055	53104055	12669	7	C	A	A	A	338	26	POM121L12	2	2
EGFR	1956	broad.mit.edu	37	7	55220240	55220240	+	Silent	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55220240G>T	uc003tqk.2	+	c.630G>T	c.(628-630)CTG>CTT	p.L210L	EGFR_uc003tqh.2_Silent_p.L210L|EGFR_uc003tqi.2_Silent_p.L210L|EGFR_uc003tqj.2_Silent_p.L210L|EGFR_uc010kzg.1_Silent_p.L165L|EGFR_uc011kco.1_Silent_p.L157L|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	210	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(15)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.095406	10.351474	56.828844	27	256	KEEP	---	---	---	---	capture		Silent	SNP	55220240	55220240	5156	7	G	T	T	T	574	45	EGFR	2	2
ZNF107	51427	broad.mit.edu	37	7	64167419	64167419	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:64167419G>T	uc003ttd.2	+	c.737G>T	c.(736-738)TGT>TTT	p.C246F	ZNF107_uc003tte.2_Missense_Mutation_p.C246F	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	246	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)												0.138889	7.449956	11.988029	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64167419	64167419	18306	7	G	T	T	T	624	48	ZNF107	2	2
ABCB1	5243	broad.mit.edu	37	7	87190651	87190651	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87190651G>T	uc003uiz.1	-	c.755C>A	c.(754-756)GCA>GAA	p.A252E	ABCB1_uc011khc.1_Missense_Mutation_p.A188E	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	252	ABC transmembrane type-1 1.					apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.25641	25.931126	28.029779	10	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87190651	87190651	41	7	G	T	T	T	598	46	ABCB1	2	2
GTPBP10	85865	broad.mit.edu	37	7	89983860	89983860	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:89983860A>T	uc003ukm.1	+	c.316A>T	c.(316-318)ATA>TTA	p.I106L	GTPBP10_uc003uki.1_Missense_Mutation_p.I123L|GTPBP10_uc003ukj.1_Missense_Mutation_p.I97L|GTPBP10_uc003ukk.1_Non-coding_Transcript|GTPBP10_uc003ukl.1_Intron|GTPBP10_uc003ukn.1_Intron|GTPBP10_uc003uko.1_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2	106					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0														0.137931	15.367581	22.714104	8	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89983860	89983860	7159	7	A	T	T	T	208	16	GTPBP10	3	3
COL1A2	1278	broad.mit.edu	37	7	94039035	94039035	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94039035G>T	uc003ung.1	+	c.937G>T	c.(937-939)GGC>TGC	p.G313C	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	313					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging			central_nervous_system(3)|ovary(2)	5	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)									0.096774	0.436796	10.548307	6	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94039035	94039035	3816	7	G	T	T	T	559	43	COL1A2	2	2
UBR5	51366	broad.mit.edu	37	8	103316347	103316347	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:103316347C>T	uc003ykr.1	-	c.2878G>A	c.(2878-2880)GAG>AAG	p.E960K	UBR5_uc003yks.1_Missense_Mutation_p.E960K	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	960					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(5)|ovary(3)|large_intestine(3)|kidney(1)|central_nervous_system(1)	13	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			Ovarian(131;96 1741 5634 7352 27489)				1024				0.246753	48.498383	52.986113	19	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103316347	103316347	17463	8	C	T	T	T	377	29	UBR5	2	2
RIMS2	9699	broad.mit.edu	37	8	105105732	105105732	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105105732G>T	uc003yls.2	+	c.2755G>T	c.(2755-2757)GAT>TAT	p.D919Y	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.D992Y|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	373					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.204225	61.609669	73.129617	29	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105105732	105105732	13845	8	G	T	T	T	417	33	RIMS2	2	2
RIMS2	9699	broad.mit.edu	37	8	105263934	105263934	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105263934G>T	uc003yls.2	+	c.3990G>T	c.(3988-3990)TGG>TGT	p.W1330C	RIMS2_uc003ylp.2_Missense_Mutation_p.W1312C|RIMS2_uc003ylq.2_Missense_Mutation_p.W1126C|RIMS2_uc003ylr.2_Missense_Mutation_p.W1151C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1374					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.165605	49.854869	66.510141	26	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105263934	105263934	13845	8	G	T	T	T	572	44	RIMS2	2	2
TMEM74	157753	broad.mit.edu	37	8	109797177	109797177	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:109797177T>C	uc003ymy.1	-	c.151A>G	c.(151-153)AGA>GGA	p.R51G	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	51					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)							48				0.076923	0.08552	14.379844	6	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109797177	109797177	16741	8	T	C	C	C	726	56	TMEM74	4	4
TRPS1	7227	broad.mit.edu	37	8	116632237	116632237	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116632237C>G	uc003yny.2	-	c.88G>C	c.(88-90)GAG>CAG	p.E30Q	TRPS1_uc011lhy.1_Missense_Mutation_p.E21Q|TRPS1_uc010mcy.2_Missense_Mutation_p.E17Q|TRPS1_uc003ynz.2_Missense_Mutation_p.E17Q	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	17					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.116279	7.85292	14.075372	5	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116632237	116632237	17144	8	C	G	G	G	403	31	TRPS1	3	3
FER1L6	654463	broad.mit.edu	37	8	125033871	125033871	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125033871C>G	uc003yqw.2	+	c.2095C>G	c.(2095-2097)CAA>GAA	p.Q699E		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	699	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)											0.131313	16.10774	29.232373	13	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125033871	125033871	6052	8	C	G	G	G	273	21	FER1L6	3	3
ASAP1	50807	broad.mit.edu	37	8	131130904	131130904	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131130904T>C	uc003yta.1	-	c.1625A>G	c.(1624-1626)TAT>TGT	p.Y542C	ASAP1_uc003ysz.1_Missense_Mutation_p.Y353C|ASAP1_uc011liw.1_Missense_Mutation_p.Y535C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	542	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4														0.160714	16.339841	22.520774	9	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131130904	131130904	1028	8	T	C	C	C	637	49	ASAP1	4	4
COL22A1	169044	broad.mit.edu	37	8	139890019	139890019	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139890019C>A	uc003yvd.2	-	c.632G>T	c.(631-633)GGC>GTC	p.G211V		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	211	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.090909	0.364836	7.796287	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139890019	139890019	3819	8	C	A	A	A	338	26	COL22A1	2	2
EPPK1	83481	broad.mit.edu	37	8	144943470	144943470	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144943470C>A	uc003zaa.1	-	c.3952G>T	c.(3952-3954)GGG>TGG	p.G1318W		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1318	Plectin 23.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.117647	12.932038	27.59345	12	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144943470	144943470	5383	8	C	A	A	A	299	23	EPPK1	1	1
ZNF16	7564	broad.mit.edu	37	8	146157289	146157289	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:146157289C>A	uc003zet.2	-	c.884G>T	c.(883-885)TGT>TTT	p.C295F	ZNF16_uc003zeu.2_Missense_Mutation_p.C295F	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	295	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C295F(1)		ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)										0.119403	8.244415	17.818333	8	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146157289	146157289	18329	8	C	A	A	A	221	17	ZNF16	2	2
C8orf33	65265	broad.mit.edu	37	8	146278737	146278737	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:146278737C>G	uc003zfc.3	+	c.458C>G	c.(457-459)CCC>CGC	p.P153R	C8orf33_uc003zfd.2_Non-coding_Transcript	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	153											0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)										0.171429	24.31819	31.415022	12	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146278737	146278737	2531	8	C	G	G	G	286	22	C8orf33	3	3
TEX15	56154	broad.mit.edu	37	8	30702510	30702510	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30702510C>A	uc003xil.2	-	c.4024G>T	c.(4024-4026)GTG>TTG	p.V1342L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1342										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.182692	40.488362	50.301816	19	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30702510	30702510	16306	8	C	A	A	A	260	20	TEX15	2	2
ANK1	286	broad.mit.edu	37	8	41582018	41582018	+	Nonsense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41582018G>A	uc003xom.2	-	c.766C>T	c.(766-768)CAG>TAG	p.Q256*	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Nonsense_Mutation_p.Q223*|ANK1_uc003xoj.2_Nonsense_Mutation_p.Q223*|ANK1_uc003xok.2_Nonsense_Mutation_p.Q223*|ANK1_uc003xol.2_Nonsense_Mutation_p.Q223*	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	223	ANK 6.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.294118	14.167773	14.812943	5	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	41582018	41582018	623	8	G	A	A	A	611	47	ANK1	5	2
PXDNL	137902	broad.mit.edu	37	8	52320844	52320844	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52320844G>A	uc003xqu.3	-	c.3340C>T	c.(3340-3342)CCC>TCC	p.P1114S	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1114					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.111111	5.731353	15.107726	7	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52320844	52320844	13306	8	G	A	A	A	572	44	PXDNL	2	2
PLAG1	5324	broad.mit.edu	37	8	57079013	57079013	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:57079013G>T	uc003xsq.3	-	c.1292C>A	c.(1291-1293)CCC>CAC	p.P431H	PLAG1_uc003xsr.3_Missense_Mutation_p.P431H|PLAG1_uc010lyi.2_Missense_Mutation_p.P431H|PLAG1_uc010lyj.2_Missense_Mutation_p.P349H	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	431	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)							45				0.08	-1.038407	12.395701	6	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57079013	57079013	12444	8	G	T	T	T	559	43	PLAG1	2	2
GGH	8836	broad.mit.edu	37	8	63927973	63927973	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:63927973T>A	uc003xuw.2	-	c.875A>T	c.(874-876)GAG>GTG	p.E292V		NM_003878	NP_003869	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase precursor	292	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity				0	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)									0.1	2.771793	9.163926	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63927973	63927973	6625	8	T	A	A	A	702	54	GGH	3	3
TTPA	7274	broad.mit.edu	37	8	63985621	63985621	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:63985621T>A	uc003xux.1	-	c.231A>T	c.(229-231)AGA>AGT	p.R77S		NM_000370	NP_000361	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	77					lipid metabolic process		transporter activity|vitamin E binding				0	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)									0.151515	7.352566	11.193636	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63985621	63985621	17291	8	T	A	A	A	699	54	TTPA	3	3
ARFGEF1	10565	broad.mit.edu	37	8	68139522	68139522	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68139522C>A	uc003xxo.1	-	c.3766G>T	c.(3766-3768)GTT>TTT	p.V1256F	ARFGEF1_uc003xxl.1_Missense_Mutation_p.V710F|ARFGEF1_uc003xxn.1_Missense_Mutation_p.V239F	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1256					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)							932				0.239669	70.429731	77.907599	29	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68139522	68139522	863	8	C	A	A	A	234	18	ARFGEF1	2	2
TRPA1	8989	broad.mit.edu	37	8	72963077	72963077	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72963077T>C	uc003xza.2	-	c.1841A>G	c.(1840-1842)CAT>CGT	p.H614R		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	614	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)									0.081967	-1.380325	9.506263	5	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72963077	72963077	17128	8	T	C	C	C	663	51	TRPA1	4	4
MMP16	4325	broad.mit.edu	37	8	89128839	89128839	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89128839C>T	uc003yeb.3	-	c.980G>A	c.(979-981)CGG>CAG	p.R327Q	MMP16_uc003yec.2_Missense_Mutation_p.R327Q	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	327	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	5														0.066667	-4.954746	15.479568	7	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89128839	89128839	10045	8	C	T	T	T	299	23	MMP16	1	1
TMEM67	91147	broad.mit.edu	37	8	94805438	94805438	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:94805438G>T	uc011lgk.1	+	c.1588G>T	c.(1588-1590)GTA>TTA	p.V530L	TMEM67_uc010maw.2_Missense_Mutation_p.V236L|TMEM67_uc003yga.3_Missense_Mutation_p.V449L|TMEM67_uc011lgl.1_5'Flank	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	530	Helical; (Potential).				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)											0.072464	-4.149477	8.827099	5	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94805438	94805438	16735	8	G	T	T	T	624	48	TMEM67	2	2
MRPL50	54534	broad.mit.edu	37	9	104152941	104152941	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104152941C>A	uc004bbe.2	-	c.284G>T	c.(283-285)CGT>CTT	p.R95L	MRPL50_uc011lvj.1_Missense_Mutation_p.R95L	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	95						mitochondrion|ribosome					0		Acute lymphoblastic leukemia(62;0.0559)												0.404255	59.423586	59.797712	19	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104152941	104152941	10207	9	C	A	A	A	247	19	MRPL50	1	1
RNF20	56254	broad.mit.edu	37	9	104309130	104309130	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104309130C>T	uc004bbn.2	+	c.776C>T	c.(775-777)ACA>ATA	p.T259I		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	259	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|regulation of gene-specific transcription|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)	7		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)										0.237288	30.057704	33.847632	14	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104309130	104309130	13951	9	C	T	T	T	221	17	RNF20	2	2
OR13C4	138804	broad.mit.edu	37	9	107288584	107288584	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107288584C>A	uc011lvn.1	-	c.907G>T	c.(907-909)GTA>TTA	p.V303L		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.241379	35.018807	38.559693	14	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107288584	107288584	11342	9	C	A	A	A	221	17	OR13C4	2	2
ORM1	5004	broad.mit.edu	37	9	117086345	117086345	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117086345A>T	uc004bik.3	+	c.305A>T	c.(304-306)GAA>GTA	p.E102V	ORM1_uc011lxo.1_Missense_Mutation_p.E102V	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	102					acute-phase response|regulation of immune system process	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)									0.240741	29.663234	32.967867	13	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117086345	117086345	11678	9	A	T	T	T	117	9	ORM1	3	3
AKNA	80709	broad.mit.edu	37	9	117143439	117143439	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117143439A>C	uc004biq.3	-	c.175T>G	c.(175-177)TTC>GTC	p.F59V	AKNA_uc004bir.3_Missense_Mutation_p.F59V|AKNA_uc004bis.3_Missense_Mutation_p.F59V|AKNA_uc010mve.2_Intron|AKNA_uc004biu.1_5'UTR|AKNA_uc004biv.1_Missense_Mutation_p.F59V|AKNA_uc004biw.1_Missense_Mutation_p.F59V	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6														0.190476	6.487408	8.370062	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117143439	117143439	466	9	A	C	C	C	39	3	AKNA	4	4
DBC1	1620	broad.mit.edu	37	9	122004412	122004412	+	Silent	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:122004412C>G	uc004bkc.2	-	c.492G>C	c.(490-492)CTG>CTC	p.L164L	DBC1_uc004bkd.2_Silent_p.L164L	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	164	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			ovary(2)|central_nervous_system(2)|large_intestine(1)	5														0.227273	37.986713	42.496595	15	51	KEEP	---	---	---	---	capture		Silent	SNP	122004412	122004412	4418	9	C	G	G	G	314	25	DBC1	3	3
GCNT1	2650	broad.mit.edu	37	9	79117888	79117888	+	Silent	SNP	C	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79117888C>G	uc010mpf.2	+	c.591C>G	c.(589-591)CTC>CTG	p.L197L	GCNT1_uc010mpg.2_Silent_p.L197L|GCNT1_uc010mph.2_Silent_p.L197L|GCNT1_uc004akf.3_Silent_p.L197L|GCNT1_uc010mpi.2_Silent_p.L197L|GCNT1_uc004akh.3_Silent_p.L197L	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	197	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0														0.285714	54.52373	57.120647	18	45	KEEP	---	---	---	---	capture		Silent	SNP	79117888	79117888	6566	9	C	G	G	G	366	29	GCNT1	3	3
GCNT1	2650	broad.mit.edu	37	9	79117986	79117986	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79117986T>C	uc010mpf.2	+	c.689T>C	c.(688-690)GTC>GCC	p.V230A	GCNT1_uc010mpg.2_Missense_Mutation_p.V230A|GCNT1_uc010mph.2_Missense_Mutation_p.V230A|GCNT1_uc004akf.3_Missense_Mutation_p.V230A|GCNT1_uc010mpi.2_Missense_Mutation_p.V230A|GCNT1_uc004akh.3_Missense_Mutation_p.V230A	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	230	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0														0.186441	27.303092	32.727528	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79117986	79117986	6566	9	T	C	C	C	754	58	GCNT1	4	4
LOC286238	286238	broad.mit.edu	37	9	91262377	91262377	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:91262377A>G	uc010mql.1	-	c.266T>C	c.(265-267)CTT>CCT	p.L89P		NM_001100111	NP_001093581			hypothetical protein LOC286238												0														0.217391	19.967342	23.428756	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91262377	91262377	9216	9	A	G	G	G	39	3	LOC286238	4	4
FAM120A	23196	broad.mit.edu	37	9	96312945	96312945	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:96312945A>T	uc004atw.2	+	c.2246A>T	c.(2245-2247)TAC>TTC	p.Y749F	FAM120A_uc004aty.2_Missense_Mutation_p.Y530F|FAM120A_uc004atz.2_Missense_Mutation_p.Y398F|FAM120A_uc010mrg.2_Missense_Mutation_p.Y62F	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	749						cytoplasm|plasma membrane	RNA binding				0														0.25	16.018337	17.605399	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96312945	96312945	5612	9	A	T	T	T	182	14	FAM120A	3	3
ZCCHC16	340595	broad.mit.edu	37	X	111698305	111698305	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111698305G>T	uc004epo.1	+	c.349G>T	c.(349-351)GAC>TAC	p.D117Y		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	117							nucleic acid binding|zinc ion binding			ovary(1)	1														0.319149	36.683127	38.063708	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111698305	111698305	18172	23	G	T	T	T	585	45	ZCCHC16	2	2
ACTRT1	139741	broad.mit.edu	37	X	127185488	127185488	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:127185488C>A	uc004eum.2	-	c.698G>T	c.(697-699)AGC>ATC	p.S233I		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	233						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)	4														0.154762	22.22532	31.789701	13	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127185488	127185488	219	23	C	A	A	A	364	28	ACTRT1	2	2
CXorf48	54967	broad.mit.edu	37	X	134292127	134292127	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134292127T>A	uc004eyk.1	-	c.534A>T	c.(532-534)GAA>GAT	p.E178D	CXorf48_uc004eyl.1_Missense_Mutation_p.E178D	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	hypothetical protein LOC54967 isoform 1	178											0	Acute lymphoblastic leukemia(192;0.000127)													0.125	3.606965	6.905711	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134292127	134292127	4272	23	T	A	A	A	725	56	CXorf48	3	3
MAGEC3	139081	broad.mit.edu	37	X	140953329	140953329	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140953329C>A	uc011mwp.1	+	c.196C>A	c.(196-198)CTG>ATG	p.L66M		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	66										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.357143	40.509809	41.266147	15	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140953329	140953329	9563	23	C	A	A	A	415	32	MAGEC3	2	2
MAGEC3	139081	broad.mit.edu	37	X	140953365	140953365	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140953365C>A	uc011mwp.1	+	c.232C>A	c.(232-234)CTT>ATT	p.L78I		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	78										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.127273	6.777817	14.266623	7	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140953365	140953365	9563	23	C	A	A	A	416	32	MAGEC3	2	2
SLITRK2	84631	broad.mit.edu	37	X	144905986	144905986	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144905986C>A	uc004fcd.2	+	c.2043C>A	c.(2041-2043)GAC>GAA	p.D681E	SLITRK2_uc010nsp.2_Missense_Mutation_p.D681E|SLITRK2_uc010nso.2_Missense_Mutation_p.D681E|SLITRK2_uc011mwq.1_Missense_Mutation_p.D681E|SLITRK2_uc011mwr.1_Missense_Mutation_p.D681E|SLITRK2_uc011mws.1_Missense_Mutation_p.D681E|SLITRK2_uc004fcg.2_Missense_Mutation_p.D681E|SLITRK2_uc011mwt.1_Missense_Mutation_p.D681E|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	681	Cytoplasmic (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.289474	32.218512	33.72266	11	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144905986	144905986	15241	23	C	A	A	A	246	19	SLITRK2	1	1
HCFC1	3054	broad.mit.edu	37	X	153220036	153220036	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153220036C>A	uc004fjp.2	-	c.3814G>T	c.(3814-3816)GTG>TTG	p.V1272L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1272					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.155556	12.923241	17.999883	7	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153220036	153220036	7273	23	C	A	A	A	221	17	HCFC1	2	2
SHROOM4	57477	broad.mit.edu	37	X	50376446	50376446	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50376446T>A	uc004dpe.2	-	c.2627A>T	c.(2626-2628)CAC>CTC	p.H876L	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.H760L	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	876	Cys-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding				0	Ovarian(276;0.236)													0.076923	0.197785	7.339928	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50376446	50376446	14791	23	T	A	A	A	767	59	SHROOM4	3	3
TBX22	50945	broad.mit.edu	37	X	79278684	79278684	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79278684C>A	uc010nmg.1	+	c.301C>A	c.(301-303)CTG>ATG	p.L101M	TBX22_uc004edi.1_De_novo_Start_OutOfFrame|TBX22_uc004edj.1_Missense_Mutation_p.L101M	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	101	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			large_intestine(3)|central_nervous_system(2)|lung(1)|ovary(1)	7										298				0.217391	11.962822	13.65646	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79278684	79278684	16184	23	C	A	A	A	259	20	TBX22	2	2
POF1B	79983	broad.mit.edu	37	X	84558432	84558432	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84558432C>A	uc004ees.2	-	c.1629G>T	c.(1627-1629)AGG>AGT	p.R543S	POF1B_uc004eer.2_Missense_Mutation_p.R543S	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	543							actin binding				0														0.357143	14.070525	14.322435	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84558432	84558432	12610	23	C	A	A	A	389	30	POF1B	2	2
ACCN2	41	broad.mit.edu	37	12	50474886	50474886	+	Frame_Shift_Del	DEL	T	-	-			TCGA-50-5066-01	TCGA-50-5066-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50474886_50474886delT	uc001rvv.2	+	c.1437_1437delT	c.(1435-1437)GGTfs	p.G479fs	ACCN2_uc001rvw.2_Frame_Shift_Del_p.G433fs|ACCN2_uc009zln.2_Frame_Shift_Del_p.G224fs|ACCN2_uc009zlo.2_Frame_Shift_Del_p.G433fs	NM_020039	NP_064423	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	433	Helical; (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)									0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	50474886	50474886	130	12	T	-	-	-	756	59	ACCN2	5	5
