Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
STAMBPL1	57559	broad.mit.edu	36	10	90655227	90655227	+	Silent	SNP	A	T	T			TCGA-06-0145-01	TCGA-06-0145-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:90655227A>T	uc001kfk.1	+	c.78A>T	c.(76-78)CCA>CCT	p.P26P	STAMBPL1_uc009xto.1_Non-coding_Transcript|STAMBPL1_uc001kfl.1_Silent_p.P26P|STAMBPL1_uc001kfm.2_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	26							metal ion binding|metallopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0381)												0.622642	113.388368	114.088631	33	20	AA		KEEP	---	---	---	---	capture		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	Silent	SNP	90655227	90655227	15770	10	A	T	T	7	7	STAMBPL1	T	4	4
MPZL2	10205	broad.mit.edu	36	11	117636028	117636028	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:117636028G>A	uc001psn.1	-	c.535C>T	c.(535-537)CGG>TGG	p.R179W	MPZL2_uc001pso.1_Missense_Mutation_p.R179W|MPZL2_uc001psp.1_Missense_Mutation_p.R179W	NM_005797	NP_658911	O60487	MPZL2_HUMAN	myelin protein zero-like 2 precursor	179	Cytoplasmic (Potential).				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)												0.362881	404.535125	410.504221	131	230	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Missense_Mutation	SNP	117636028	117636028	10142	11	G	A	A	39	39	MPZL2	A	1	1
CHEK1	1111	broad.mit.edu	36	11	125008322	125008322	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125008322G>A	uc009zbo.1	+	c.479G>A	c.(478-480)CGT>CAT	p.R160H	CHEK1_uc001qcf.2_Missense_Mutation_p.R160H|CHEK1_uc009zbp.1_Missense_Mutation_p.R160H|CHEK1_uc001qcg.2_Missense_Mutation_p.R160H|CHEK1_uc009zbq.1_Missense_Mutation_p.R160H|CHEK1_uc001qch.2_Missense_Mutation_p.R66H|CHEK1_uc001qci.1_Non-coding_Transcript	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	CHK1 checkpoint homolog	160	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.R160H(1)		central_nervous_system(3)|lung(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)								124				0.359712	142.308486	144.718203	50	89	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	Missense_Mutation	SNP	125008322	125008322	3468	11	G	A	A	40	40	CHEK1	A	1	1
C11orf40	143501	broad.mit.edu	36	11	4549390	4549390	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0145-01	TCGA-06-0145-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4549390T>A	uc001lzc.1	-	c.493A>T	c.(493-495)ATA>TTA	p.I165L		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	hypothetical protein LOC143501	165										ovary(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)												0.416667	6.932116	7.012952	5	7	TT		KEEP	---	---	---	---	capture		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	Missense_Mutation	SNP	4549390	4549390	1678	11	T	A	A	52	52	C11orf40	A	4	4
OR51S1	119692	broad.mit.edu	36	11	4826732	4826732	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4826732C>T	uc001lzo.1	-	c.283G>A	c.(283-285)GCT>ACT	p.A95T		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	95	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)												0.407143	147.779375	148.850565	57	83	CC		KEEP	---	---	---	---	capture		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4826732	4826732	11515	11	C	T	T	25	25	OR51S1	T	2	2
FOLH1	2346	broad.mit.edu	36	11	49132506	49132506	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:49132506G>A	uc001ngy.1	-	c.1738C>T	c.(1738-1740)CGA>TGA	p.R580*	FOLH1_uc001ngz.1_Nonsense_Mutation_p.R580*|FOLH1_uc009yly.1_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.1_Nonsense_Mutation_p.R565*|FOLH1_uc001ngx.1_Nonsense_Mutation_p.R12*	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	580	NAALADase.|Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)	1					Capromab(DB00089)|L-Glutamic Acid(DB00142)									0.368421	142.392269	144.395171	49	84	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	49132506	49132506	6221	11	G	A	A	37	37	FOLH1	A	5	1
OR5D18	219438	broad.mit.edu	36	11	55344430	55344430	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55344430C>A	uc001nhx.1	+	c.749C>A	c.(748-750)ACC>AAC	p.T250N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.365854	130.037566	131.985879	45	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55344430	55344430	11567	11	C	A	A	18	18	OR5D18	A	3	3
MS4A7	58475	broad.mit.edu	36	11	59907307	59907307	+	Silent	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59907307C>T	uc001npe.1	+	c.117C>T	c.(115-117)AAC>AAT	p.N39N	MS4A7_uc009ymx.1_Silent_p.N39N|MS4A7_uc001npf.1_Silent_p.N39N|MS4A7_uc001npg.1_Silent_p.N39N|MS4A7_uc001nph.1_Silent_p.N39N|MS4A14_uc001npi.1_Intron	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	39	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2														0.463415	107.314091	107.411541	38	44	CC		KEEP	---	---	---	---	capture			Silent	SNP	59907307	59907307	10259	11	C	T	T	19	19	MS4A7	T	1	1
PITPNM1	9600	broad.mit.edu	36	11	67022304	67022304	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:67022304G>C	uc001olx.1	-	c.1550C>G	c.(1549-1551)GCC>GGC	p.A517G	PITPNM1_uc001olw.1_5'UTR|PITPNM1_uc001oly.1_Missense_Mutation_p.A517G|PITPNM1_uc001olz.1_Missense_Mutation_p.A517G	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	517					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GBM(28;144 709 4607 5525)								0.214286	7.519072	9.661955	6	22	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67022304	67022304	12374	11	G	C	C	42	42	PITPNM1	C	3	3
C11orf16	56673	broad.mit.edu	36	11	8910351	8910351	+	Silent	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:8910351G>A	uc001mhb.2	-	c.81C>T	c.(79-81)GAC>GAT	p.D27D	C11orf16_uc001mhc.2_Silent_p.D27D	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	27										pancreas(1)	1														0.526316	31.450867	31.462333	10	9	GG		KEEP	---	---	---	---	capture		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	Silent	SNP	8910351	8910351	1668	11	G	A	A	40	40	C11orf16	A	1	1
SDS	10993	broad.mit.edu	36	12	112319502	112319502	+	Silent	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112319502G>A	uc001tvg.1	-	c.504C>T	c.(502-504)GGC>GGT	p.G168G	SDS_uc001tvh.1_Silent_p.G168G	NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	168					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)									0.408163	110.585117	111.305102	40	58	GG		KEEP	---	---	---	---	capture			Silent	SNP	112319502	112319502	14461	12	G	A	A	38	38	SDS	A	1	1
PIK3C2G	5288	broad.mit.edu	36	12	18549503	18549503	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:18549503A>G	uc001rds.1	+	c.3041A>G	c.(3040-3042)AAC>AGC	p.N1014S	PIK3C2G_uc001rdt.1_Missense_Mutation_p.N1014S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2, gamma	1014	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.N1014S(1)		central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.5	40.025576	40.025576	11	11	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18549503	18549503	12335	12	A	G	G	2	2	PIK3C2G	G	4	4
CACNA1C	775	broad.mit.edu	36	12	2644374	2644374	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2644374C>A	uc009zdu.1	+	c.4499C>A	c.(4498-4500)GCT>GAT	p.A1500D	CACNA1C_uc009zdv.1_Missense_Mutation_p.A1449D|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1452D|CACNA1C_uc001qkc.2_Missense_Mutation_p.A1452D|CACNA1C_uc001qke.2_Missense_Mutation_p.A1441D|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1441D|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1452D|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1452D|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1439D|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1474D|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1441D|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1500D|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1452D|CACNA1C_uc001qko.2_Missense_Mutation_p.A1472D|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1452D|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1469D|CACNA1C_uc001qku.2_Missense_Mutation_p.A1452D|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1480D|CACNA1C_uc001qks.2_Missense_Mutation_p.A1452D|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1452D|CACNA1C_uc001qki.1_Missense_Mutation_p.A1188D|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1188D|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1188D|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1177D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1500	Phenylalkylamine binding (By similarity).|Dihydropyridine binding (By similarity).|Helical; Name=S6 of repeat IV; (Potential).|IV.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11					Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.125	6.444711	11.942416	5	35	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Missense_Mutation	SNP	2644374	2644374	2656	12	C	A	A	28	28	CACNA1C	A	3	3
PPFIBP1	8496	broad.mit.edu	36	12	27732507	27732507	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:27732507G>A	uc001ric.1	+	c.2398G>A	c.(2398-2400)GCC>ACC	p.A800T	PPFIBP1_uc001rib.1_Missense_Mutation_p.A794T|PPFIBP1_uc001ria.2_Missense_Mutation_p.A769T|PPFIBP1_uc001rid.1_Missense_Mutation_p.A647T|PPFIBP1_uc001rif.1_Missense_Mutation_p.A307T	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	800					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)													0.410579	476.281877	479.044936	163	234	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27732507	27732507	12743	12	G	A	A	38	38	PPFIBP1	A	1	1
TEAD4	7004	broad.mit.edu	36	12	2998576	2998576	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:2998576C>T	uc001qlo.1	+	c.562C>T	c.(562-564)CAG>TAG	p.Q188*	TEAD4_uc001qll.1_Nonsense_Mutation_p.Q115*|TEAD4_uc001qlm.1_Nonsense_Mutation_p.Q145*|TEAD4_uc001qln.1_Nonsense_Mutation_p.Q59*	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 3	188					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)													0.478723	132.661669	132.699081	45	49	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		Nonsense_Mutation	SNP	2998576	2998576	16268	12	C	T	T	21	21	TEAD4	T	5	2
LUM	4060	broad.mit.edu	36	12	90026506	90026506	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:90026506G>T	uc001tbm.1	-	c.382C>A	c.(382-384)CTG>ATG	p.L128M	LUM_uc001tbn.1_Intron	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	128	LRR 3.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.L128M(1)		central_nervous_system(2)	2														0.43662	188.328159	188.82571	62	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	90026506	90026506	9461	12	G	T	T	35	35	LUM	T	3	3
COL4A2	1284	broad.mit.edu	36	13	109956830	109956830	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:109956830C>A	uc001vqx.1	+	c.4470C>A	c.(4468-4470)TAC>TAA	p.Y1490*		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1490	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)												0.363636	6.453723	6.650334	4	7	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		Nonsense_Mutation	SNP	109956830	109956830	3828	13	C	A	A	18	18	COL4A2	A	5	3
FAM123A	219287	broad.mit.edu	36	13	24643233	24643233	+	Silent	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:24643233G>A	uc001uqb.1	-	c.525C>T	c.(523-525)AAC>AAT	p.N175N	FAM123A_uc001uqa.1_Silent_p.N175N|FAM123A_uc001uqc.1_Silent_p.N175N	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	175										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)												0.363636	20.490205	20.851584	8	14	GG		KEEP	---	---	---	---	capture		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	Silent	SNP	24643233	24643233	5619	13	G	A	A	40	40	FAM123A	A	1	1
PAN3	255967	broad.mit.edu	36	13	27738979	27738979	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0145-01	TCGA-06-0145-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:27738979A>T	uc001urz.1	+	c.1101A>T	c.(1099-1101)AAA>AAT	p.K367N	PAN3_uc001urx.1_Missense_Mutation_p.K313N|PAN3_uc001ury.1_Missense_Mutation_p.K201N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	367	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|protein phosphorylation	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)												0.432692	129.25344	129.665136	45	59	AA		KEEP	---	---	---	---	capture	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	Missense_Mutation	SNP	27738979	27738979	11832	13	A	T	T	3	3	PAN3	T	4	4
STARD13	90627	broad.mit.edu	36	13	32602189	32602189	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:32602189G>A	uc001uuw.1	-	c.625C>T	c.(625-627)CGC>TGC	p.R209C	STARD13_uc001uuu.1_Missense_Mutation_p.R201C|STARD13_uc001uuv.1_Missense_Mutation_p.R91C|STARD13_uc001uux.1_Missense_Mutation_p.R174C|STARD13_uc010abh.1_Missense_Mutation_p.R194C	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	209					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)	3	all_epithelial(80;0.155)	Lung SC(185;0.0367)												0.465116	55.991233	56.037055	20	23	GG		KEEP	---	---	---	---	capture		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	Missense_Mutation	SNP	32602189	32602189	15775	13	G	A	A	37	37	STARD13	A	1	1
CRIP1	1396	broad.mit.edu	36	14	105025861	105025861	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:105025861C>T	uc001yri.2	+	c.202C>T	c.(202-204)CGG>TGG	p.R68W	C14orf80_uc001yrj.1_5'Flank|C14orf80_uc001yrk.1_5'Flank|C14orf80_uc001yrl.1_5'Flank|C14orf80_uc001yrm.1_5'Flank|C14orf80_uc001yrn.1_5'Flank|C14orf80_uc001yro.1_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	68	Gly-rich.				cell proliferation	cytoplasm	zinc ion binding				0		Melanoma(154;0.226)												0.222222	44.179077	51.231477	22	77	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)	Missense_Mutation	SNP	105025861	105025861	4013	14	C	T	T	27	27	CRIP1	T	1	1
LRFN5	145581	broad.mit.edu	36	14	41426424	41426424	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0145-01	TCGA-06-0145-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr14:41426424T>A	uc001wvm.1	+	c.846T>A	c.(844-846)TTT>TTA	p.F282L	LRFN5_uc010ana.1_Missense_Mutation_p.F282L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	282	Extracellular (Potential).|LRRCT.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8														0.398734	176.086968	177.505643	63	95	TT		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	Missense_Mutation	SNP	41426424	41426424	9314	14	T	A	A	64	64	LRFN5	A	4	4
PAPLN	89932	broad.mit.edu	36	14	72787455	72787455	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:72787455G>A	uc001xnw.2	+	c.553G>A	c.(553-555)GTC>ATC	p.V185I	PAPLN_uc010arl.1_Missense_Mutation_p.V185I	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	185						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.387597	144.421525	145.849048	50	79	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	Missense_Mutation	SNP	72787455	72787455	11845	14	G	A	A	40	40	PAPLN	A	1	1
HDC	3067	broad.mit.edu	36	15	48336923	48336923	+	Silent	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48336923G>A	uc001zxz.1	-	c.432C>T	c.(430-432)GGC>GGT	p.G144G	HDC_uc010bet.1_Intron|HDC_uc010beu.1_Silent_p.G144G	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	144					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|central_nervous_system(1)	3		all_lung(180;0.0138)			L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GBM(95;1627 1936 6910 9570)								0.391667	130.889656	132.12531	47	73	GG		KEEP	---	---	---	---	capture		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	Silent	SNP	48336923	48336923	7298	15	G	A	A	38	38	HDC	A	1	1
MYH11	4629	broad.mit.edu	36	16	15751613	15751613	+	Silent	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:15751613C>T	uc002ddx.1	-	c.1962G>A	c.(1960-1962)AAG>AAA	p.K654K	MYH11_uc002ddv.1_Silent_p.K654K|MYH11_uc002ddw.1_Silent_p.K647K|MYH11_uc002ddy.1_Silent_p.K647K|MYH11_uc010bvg.1_Silent_p.K479K|MYH11_uc002dea.1_Silent_p.K353K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	647	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(4)|skin(2)|lung(1)	7										1257				0.33871	62.453511	63.880843	21	41	CC		KEEP	---	---	---	---	capture			Silent	SNP	15751613	15751613	10426	16	C	T	T	24	24	MYH11	T	2	2
ADCY9	115	broad.mit.edu	36	16	3973426	3973426	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:3973426G>A	uc002cvx.1	-	c.2327C>T	c.(2326-2328)CCC>CTC	p.P776L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	776	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)	5														0.363636	12.497278	12.677141	4	7	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3973426	3973426	302	16	G	A	A	43	43	ADCY9	A	2	2
HYDIN	54768	broad.mit.edu	36	16	69583571	69583571	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:69583571G>T	uc002ezr.1	-	c.3688C>A	c.(3688-3690)CAG>AAG	p.Q1230K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1230										ovary(1)	1		Ovarian(137;0.0654)												0.245	124.276434	136.121998	49	151	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69583571	69583571	7767	16	G	T	T	47	47	HYDIN	T	3	3
KRT13	3860	broad.mit.edu	36	17	36912798	36912798	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36912798G>A	uc002hwu.1	-	c.814C>T	c.(814-816)CGC>TGC	p.R272C	KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc002hww.1_Missense_Mutation_p.R165C|KRT13_uc010cxo.1_Missense_Mutation_p.R272C|KRT13_uc002hwx.1_Missense_Mutation_p.R260C	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	272	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|pancreas(1)	3		Breast(137;0.000286)												0.399113	545.3791	549.370373	180	271	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36912798	36912798	8765	17	G	A	A	39	39	KRT13	A	1	1
B4GALNT2	124872	broad.mit.edu	36	17	44601246	44601246	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44601246C>T	uc002ion.1	+	c.1480C>T	c.(1480-1482)CGA>TGA	p.R494*		NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	494	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2						GBM(124;244 1635 8663 18097 33175)								0.333333	27.541679	28.278859	10	20	CC		KEEP	---	---	---	---	capture	all cancers(6;0.000316)		Nonsense_Mutation	SNP	44601246	44601246	1288	17	C	T	T	19	19	B4GALNT2	T	5	1
ZNF521	25925	broad.mit.edu	36	18	21156137	21156137	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0145-01	TCGA-06-0145-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:21156137T>C	uc002kvk.1	-	c.53A>G	c.(52-54)AAA>AGA	p.K18R	ZNF521_uc010dly.1_Missense_Mutation_p.K18R|ZNF521_uc002kvl.1_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	18					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.391089	272.789305	274.885063	79	123	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21156137	21156137	18559	18	T	C	C	64	64	ZNF521	C	4	4
SS18	6760	broad.mit.edu	36	18	21872582	21872582	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:21872582C>T	uc002kvm.1	-	c.815G>A	c.(814-816)GGG>GAG	p.G272E	SS18_uc002kvn.1_Missense_Mutation_p.G272E|SS18_uc010dlz.1_Missense_Mutation_p.G220E	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	272	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1145)|SS18/SSX2(694)|SS18/SSX4(12)	soft_tissue(1851)	1851	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)									177				0.327684	166.6203	171.265558	58	119	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21872582	21872582	15690	18	C	T	T	22	22	SS18	T	2	2
CPAMD8	27151	broad.mit.edu	36	19	16886572	16886572	+	Silent	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16886572G>A	uc002nfb.1	-	c.3822C>T	c.(3820-3822)TTC>TTT	p.F1274F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1227						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)	12										1067				0.297619	58.831698	61.918586	25	59	GG		KEEP	---	---	---	---	capture			Silent	SNP	16886572	16886572	3933	19	G	A	A	37	37	CPAMD8	A	1	1
TJP3	27134	broad.mit.edu	36	19	3697600	3697600	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3697600C>T	uc002lym.1	+	c.2227C>T	c.(2227-2229)CGC>TGC	p.R743C	TJP3_uc002lyk.1_Missense_Mutation_p.R710C|TJP3_uc002lyl.1_Missense_Mutation_p.R719C|TJP3_uc002lyn.1_Missense_Mutation_p.R710C	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	724	Guanylate kinase-like.					tight junction	protein binding			ovary(1)|central_nervous_system(1)	2														0.2	17.381404	20.726647	8	32	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3697600	3697600	16460	19	C	T	T	27	27	TJP3	T	1	1
TJP3	27134	broad.mit.edu	36	19	3697621	3697621	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0145-01	TCGA-06-0145-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3697621T>C	uc002lym.1	+	c.2248T>C	c.(2248-2250)TCC>CCC	p.S750P	TJP3_uc002lyk.1_Missense_Mutation_p.S717P|TJP3_uc002lyl.1_Missense_Mutation_p.S726P|TJP3_uc002lyn.1_Missense_Mutation_p.S717P	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	731	Guanylate kinase-like.					tight junction	protein binding			ovary(1)|central_nervous_system(1)	2														0.259259	8.472976	9.943301	7	20	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	3697621	3697621	16460	19	T	C	C	54	54	TJP3	C	4	4
PSG4	5672	broad.mit.edu	36	19	48394261	48394261	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48394261G>C	uc002ovy.1	-	c.437C>G	c.(436-438)ACT>AGT	p.T146S	PSG4_uc002ovz.1_Missense_Mutation_p.T146S|PSG4_uc002owa.1_Non-coding_Transcript|PSG4_uc002owb.1_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	146					defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.267647	278.494668	295.052949	91	249	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48394261	48394261	13110	19	G	C	C	36	36	PSG4	C	3	3
NLRP2	55655	broad.mit.edu	36	19	60197455	60197455	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60197455G>A	uc002qij.1	+	c.2715G>A	c.(2713-2715)TGG>TGA	p.W905*	NLRP2_uc010esm.1_Non-coding_Transcript|NLRP2_uc010esn.1_Nonsense_Mutation_p.W881*|NLRP2_uc010eso.1_Nonsense_Mutation_p.W902*|NLRP2_uc010esp.1_Nonsense_Mutation_p.W883*	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	905	LRR 4.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1														0.197183	61.525113	73.649523	28	114	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	Nonsense_Mutation	SNP	60197455	60197455	10880	19	G	A	A	41	41	NLRP2	A	5	2
NLRP8	126205	broad.mit.edu	36	19	61151368	61151368	+	Silent	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61151368C>T	uc002qmh.1	+	c.288C>T	c.(286-288)CGC>CGT	p.R96R	NLRP8_uc010etg.1_Silent_p.R96R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	96	DAPIN.					cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)												0.296296	61.866707	64.873947	24	57	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0695)	Silent	SNP	61151368	61151368	10886	19	C	T	T	27	27	NLRP8	T	1	1
PRMT6	55170	broad.mit.edu	36	1	107401838	107401838	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:107401838C>G	uc001dvb.1	+	c.801C>G	c.(799-801)AAC>AAG	p.N267K		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	326					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)												0.285714	13.233798	14.105933	6	15	CC		KEEP	---	---	---	---	capture		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	Missense_Mutation	SNP	107401838	107401838	12983	1	C	G	G	19	19	PRMT6	G	3	3
PADI3	51702	broad.mit.edu	36	1	17448286	17448286	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17448286G>A	uc001bai.1	+	c.67G>A	c.(67-69)GTG>ATG	p.V23M		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidylarginine deiminase type III	23					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)			L-Citrulline(DB00155)									0.3	84.130332	88.062875	33	77	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	Missense_Mutation	SNP	17448286	17448286	11795	1	G	A	A	40	40	PADI3	A	1	1
RGL1	23179	broad.mit.edu	36	1	182161936	182161936	+	Nonsense_Mutation	SNP	A	T	T			TCGA-06-0145-01	TCGA-06-0145-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:182161936A>T	uc001gqm.1	+	c.2299A>T	c.(2299-2301)AAA>TAA	p.K767*	RGL1_uc001gqo.1_Nonsense_Mutation_p.K732*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	732	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			ovary(3)|breast(3)|lung(1)	7										871				0.342105	139.139212	142.494261	52	100	AA		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	182161936	182161936	13749	1	A	T	T	5	5	RGL1	T	5	4
DISP1	84976	broad.mit.edu	36	1	221182949	221182949	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:221182949G>A	uc001hnu.1	+	c.161G>A	c.(160-162)GGA>GAA	p.G54E		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	54					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0														0.452991	159.679809	159.901512	53	64	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.102)	Missense_Mutation	SNP	221182949	221182949	4718	1	G	A	A	41	41	DISP1	A	2	2
RYR2	6262	broad.mit.edu	36	1	235847332	235847332	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235847332G>C	uc001hyl.1	+	c.5839G>C	c.(5839-5841)GTC>CTC	p.V1947L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1947	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.266667	43.271675	46.223634	16	44	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235847332	235847332	14249	1	G	C	C	36	36	RYR2	C	3	3
RYR2	6262	broad.mit.edu	36	1	235930375	235930375	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235930375G>A	uc001hyl.1	+	c.9352G>A	c.(9352-9354)GGA>AGA	p.G3118R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3118					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.423077	33.513671	33.649221	11	15	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235930375	235930375	14249	1	G	A	A	39	39	RYR2	A	1	1
GRHL3	57822	broad.mit.edu	36	1	24535789	24535789	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:24535789C>T	uc001biy.1	+	c.512C>T	c.(511-513)CCC>CTC	p.P171L	GRHL3_uc001bix.1_Missense_Mutation_p.P166L|GRHL3_uc001biz.1_Missense_Mutation_p.P73L	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	166					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)												0.366197	229.39421	232.747171	78	135	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	Missense_Mutation	SNP	24535789	24535789	7043	1	C	T	T	22	22	GRHL3	T	2	2
CAMTA1	23261	broad.mit.edu	36	1	7721013	7721013	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:7721013C>T	uc001aoi.1	+	c.4066C>T	c.(4066-4068)CGG>TGG	p.R1356W	CAMTA1_uc001aok.2_Missense_Mutation_p.R399W|CAMTA1_uc001aoj.1_Missense_Mutation_p.R312W	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1356					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)												0.389474	111.35618	112.371942	37	58	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	7721013	7721013	2730	1	C	T	T	19	19	CAMTA1	T	1	1
MCOLN3	55283	broad.mit.edu	36	1	85272498	85272498	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:85272498C>T	uc001dkp.1	-	c.421G>A	c.(421-423)GTT>ATT	p.V141I	MCOLN3_uc001dkq.1_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.2_Missense_Mutation_p.V141I|MCOLN3_uc001dks.2_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	141						integral to membrane	ion channel activity				0														0.285714	61.464273	64.926551	24	60	CC		KEEP	---	---	---	---	capture		all cancers(265;0.00957)|Epithelial(280;0.0254)	Missense_Mutation	SNP	85272498	85272498	9786	1	C	T	T	19	19	MCOLN3	T	1	1
FAM83C	128876	broad.mit.edu	36	20	33338976	33338976	+	Silent	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33338976C>T	uc002xca.1	-	c.1020G>A	c.(1018-1020)TCG>TCA	p.S340S	EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	340										ovary(2)	2														0.290323	23.765142	24.984814	9	22	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00252)		Silent	SNP	33338976	33338976	5861	20	C	T	T	19	19	FAM83C	T	1	1
SLC32A1	140679	broad.mit.edu	36	20	36790411	36790411	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36790411G>A	uc002xjc.1	+	c.1293G>A	c.(1291-1293)TGG>TGA	p.W431*		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	431	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)									0.453333	102.245041	102.386502	34	41	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	36790411	36790411	15062	20	G	A	A	43	43	SLC32A1	A	5	2
JPH2	57158	broad.mit.edu	36	20	42222013	42222013	+	Silent	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:42222013G>A	uc002xli.1	-	c.828C>T	c.(826-828)GCC>GCT	p.A276A		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	276	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)												0.526316	28.447143	28.458399	10	9	GG		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(18;0.00189)		Silent	SNP	42222013	42222013	8265	20	G	A	A	39	39	JPH2	A	1	1
EYA2	2139	broad.mit.edu	36	20	45245368	45245368	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:45245368G>C	uc002xsn.1	+	c.1473G>C	c.(1471-1473)AGG>AGC	p.R491S	EYA2_uc002xsm.1_Missense_Mutation_p.R486S|EYA2_uc010ghp.1_Missense_Mutation_p.R407S|EYA2_uc002xso.1_Missense_Mutation_p.R486S|EYA2_uc002xsp.1_Missense_Mutation_p.R486S|EYA2_uc002xsq.1_Missense_Mutation_p.R456S	NM_172113	NP_742110	O00167	EYA2_HUMAN	eyes absent 2 isoform b	486					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				Pancreas(120;56 1725 18501 25218 43520)								0.264957	95.771391	101.613059	31	86	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45245368	45245368	5523	20	G	C	C	41	41	EYA2	C	3	3
C21orf29	54084	broad.mit.edu	36	21	44772857	44772857	+	Silent	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44772857C>T	uc002zfe.1	-	c.828G>A	c.(826-828)CCG>CCA	p.P276P	C21orf29_uc010gpv.1_Silent_p.P208P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29	276					cell adhesion	extracellular region	structural molecule activity				0														0.396396	127.989571	129.027515	44	67	CC		KEEP	---	---	---	---	capture			Silent	SNP	44772857	44772857	2204	21	C	T	T	19	19	C21orf29	T	1	1
EDAR	10913	broad.mit.edu	36	2	108893416	108893416	+	Silent	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:108893416G>A	uc010fjn.1	-	c.831C>T	c.(829-831)AAC>AAT	p.N277N	EDAR_uc002teq.2_Silent_p.N245N	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	245	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity				0														0.465116	58.292456	58.338274	20	23	GG		KEEP	---	---	---	---	capture			Silent	SNP	108893416	108893416	5092	2	G	A	A	40	40	EDAR	A	1	1
PCDP1	200373	broad.mit.edu	36	2	120101796	120101796	+	Silent	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:120101796C>T	uc002tmb.1	+	c.756C>T	c.(754-756)TTC>TTT	p.F252F		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	538						cilium	calmodulin binding				0	Colorectal(110;0.196)													0.382775	232.944501	235.465092	80	129	CC		KEEP	---	---	---	---	capture			Silent	SNP	120101796	120101796	11992	2	C	T	T	30	30	PCDP1	T	2	2
POTEE	445582	broad.mit.edu	36	2	131692941	131692941	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:131692941G>A	uc002tsn.2	+	c.496G>A	c.(496-498)GTG>ATG	p.V166M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Non-coding_Transcript|POTEE_uc002tsl.2_Non-coding_Transcript	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	166							ATP binding				0														0.151394	64.280391	93.501383	38	213	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131692941	131692941	12694	2	G	A	A	40	40	POTEE	A	1	1
THSD7B	80731	broad.mit.edu	36	2	137530681	137530681	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:137530681C>T	uc002tva.1	+	c.268C>T	c.(268-270)CGC>TGC	p.R90C	THSD7B_uc002tvb.2_5'UTR	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7														0.458824	114.091429	114.219052	39	46	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.19)	Missense_Mutation	SNP	137530681	137530681	16408	2	C	T	T	31	31	THSD7B	T	1	1
XIRP2	129446	broad.mit.edu	36	2	167809809	167809809	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167809809A>G	uc002udx.1	+	c.3661A>G	c.(3661-3663)AAA>GAA	p.K1221E	XIRP2_uc010fpn.1_Intron|XIRP2_uc010fpo.1_Intron|XIRP2_uc010fpp.1_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K1046E|XIRP2_uc010fpq.1_Missense_Mutation_p.K999E|XIRP2_uc010fpr.1_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1046					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.373134	83.260111	84.20649	25	42	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	167809809	167809809	18011	2	A	G	G	9	9	XIRP2	G	4	4
TTN	7273	broad.mit.edu	36	2	179177867	179177867	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179177867C>T	uc002umr.1	-	c.46490G>A	c.(46489-46491)CGC>CAC	p.R15497H	TTN_uc002ums.1_Missense_Mutation_p.R9192H|TTN_uc010frc.1_Missense_Mutation_p.R9125H|TTN_uc010frd.1_Missense_Mutation_p.R9000H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16424										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153										8722				0.484848	136.582935	136.603093	48	51	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179177867	179177867	17290	2	C	T	T	27	27	TTN	T	1	1
UGT1A5	54579	broad.mit.edu	36	2	234286595	234286595	+	Silent	SNP	C	T	T	rs17874940	unknown	TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234286595C>T	uc002vuw.1	+	c.219C>T	c.(217-219)AAC>AAT	p.N73N	UGT1A8_uc002vup.1_Intron|UGT1A10_uc002vuq.2_Intron|UGT1A10_uc002vur.1_Intron|UGT1A9_uc002vus.1_Intron|UGT1A7_uc002vut.1_Intron|UGT1A6_uc002vuu.1_Intron|UGT1A6_uc002vuv.2_Intron	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	73					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)												0.347518	135.323999	138.221507	49	92	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	Silent	SNP	234286595	234286595	17506	2	C	T	T	20	20	UGT1A5	T	2	2
KLHL30	377007	broad.mit.edu	36	2	238714673	238714673	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0145-01	TCGA-06-0145-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238714673T>G	uc002vxr.1	+	c.485T>G	c.(484-486)GTC>GGC	p.V162G		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	kelch-like 30	180	BACK.										0		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)												0.4	8.092621	8.181414	4	6	TT		KEEP	---	---	---	---	capture		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	Missense_Mutation	SNP	238714673	238714673	8697	2	T	G	G	58	58	KLHL30	G	4	4
ST6GAL1	6480	broad.mit.edu	36	3	188274654	188274654	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:188274654C>T	uc003frb.1	+	c.818C>T	c.(817-819)CCG>CTG	p.P273L	ST6GAL1_uc003frc.1_Missense_Mutation_p.P42L|ST6GAL1_uc003frd.1_Missense_Mutation_p.P273L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	ST6 beta-galactosamide	273	Lumenal (Potential).				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P273L(1)		central_nervous_system(1)	1	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)													0.298013	132.351821	137.838296	45	106	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	Missense_Mutation	SNP	188274654	188274654	15739	3	C	T	T	23	23	ST6GAL1	T	1	1
PRKCD	5580	broad.mit.edu	36	3	53188716	53188716	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:53188716C>T	uc003dgl.1	+	c.199C>T	c.(199-201)CGC>TGC	p.R67C	PRKCD_uc003dgm.1_Missense_Mutation_p.R67C|PRKCD_uc003dgn.1_Missense_Mutation_p.R17C	NM_006254	NP_997704	Q05655	KPCD_HUMAN	protein kinase C, delta	67	C2.	Interaction with phosphotyrosine- containing peptide.			activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|protein phosphorylation|protein stabilization|regulation of receptor activity	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	p.R67C(1)		central_nervous_system(4)|lung(1)	5		Ovarian(412;0.0728)								215				0.4375	58.166788	58.32944	21	27	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Missense_Mutation	SNP	53188716	53188716	12952	3	C	T	T	27	27	PRKCD	T	1	1
GRM7	2917	broad.mit.edu	36	3	6878093	6878093	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:6878093G>T	uc003bql.1	+	c.18G>T	c.(16-18)AAG>AAT	p.K6N	GRM7_uc010hcf.1_Non-coding_Transcript|GRM7_uc010hcg.1_Missense_Mutation_p.K6N|GRM7_uc003bqm.1_Missense_Mutation_p.K6N	NM_181874	NP_870989	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform b	6					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)	4					L-Glutamic Acid(DB00142)									0.368421	19.31905	19.608576	7	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6878093	6878093	7081	3	G	T	T	34	34	GRM7	T	3	3
DCHS2	54798	broad.mit.edu	36	4	155445739	155445739	+	Silent	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155445739G>A	uc003inw.1	-	c.3990C>T	c.(3988-3990)ACC>ACT	p.T1330T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1330	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)												0.326923	45.454321	46.837417	17	35	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(193;0.107)	Silent	SNP	155445739	155445739	4459	4	G	A	A	47	47	DCHS2	A	2	2
TKTL2	84076	broad.mit.edu	36	4	164613253	164613253	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:164613253G>A	uc003iqp.2	-	c.1084C>T	c.(1084-1086)CGT>TGT	p.R362C		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	362						cytoplasm	metal ion binding|transketolase activity			ovary(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.432624	181.85463	182.412267	61	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	164613253	164613253	16465	4	G	A	A	38	38	TKTL2	A	1	1
UGT2A1	10941	broad.mit.edu	36	4	70489864	70489864	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:70489864G>A	uc010ihs.1	-	c.1402C>T	c.(1402-1404)CGC>TGC	p.R468C	UGT2A1_uc003hem.2_Missense_Mutation_p.R467C|UGT2A1_uc010iht.1_Missense_Mutation_p.R423C|UGT2A1_uc010ihu.1_Missense_Mutation_p.R467C	NM_001105677	NP_001099147	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	467	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1														0.367347	201.853744	204.883395	72	124	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70489864	70489864	17511	4	G	A	A	38	38	UGT2A1	A	1	1
FRAS1	80144	broad.mit.edu	36	4	79581373	79581373	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79581373C>A	uc003hkx.2	+	c.5560C>A	c.(5560-5562)CAC>AAC	p.H1854N	FRAS1_uc003hkw.2_Missense_Mutation_p.H1855N|FRAS1_uc010ijj.1_Missense_Mutation_p.H275N|FRAS1_uc003hlb.1_Missense_Mutation_p.H76N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1854	CSPG 7.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.458333	66.54354	66.616291	22	26	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	79581373	79581373	6288	4	C	A	A	29	29	FRAS1	A	3	3
TERT	7015	broad.mit.edu	36	5	1333302	1333302	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1333302C>A	uc003jcb.1	-	c.1921G>T	c.(1921-1923)GGA>TGA	p.G641*	TERT_uc003jbz.1_5'UTR|TERT_uc003jca.1_Nonsense_Mutation_p.G641*|TERT_uc003jcc.1_Nonsense_Mutation_p.G641*|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	641	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase	cytoplasm|nuclear telomere cap complex|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(6)|central_nervous_system(2)|ovary(1)|skin(1)	10	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)									563				0.366197	147.46702	149.700414	52	90	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Nonsense_Mutation	SNP	1333302	1333302	16291	5	C	A	A	22	22	TERT	A	5	3
PCDHA1	56147	broad.mit.edu	36	5	140146201	140146201	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140146201G>A	uc003lhb.1	+	c.142G>A	c.(142-144)GTT>ATT	p.V48I	PCDHA1_uc003lha.1_Missense_Mutation_p.V48I|PCDHA1_uc003lgz.1_Missense_Mutation_p.V48I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	48	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0														0.397516	182.665927	184.14456	64	97	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140146201	140146201	11939	5	G	A	A	40	40	PCDHA1	A	1	1
SLC6A3	6531	broad.mit.edu	36	5	1475128	1475128	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:1475128G>A	uc003jck.2	-	c.655C>T	c.(655-657)CGT>TGT	p.R219C		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	219	Extracellular (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6					Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)									0.290698	61.134156	64.513834	25	61	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Missense_Mutation	SNP	1475128	1475128	15182	5	G	A	A	40	40	SLC6A3	A	1	1
FAT2	2196	broad.mit.edu	36	5	150904531	150904531	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:150904531C>T	uc003lue.2	-	c.6350G>A	c.(6349-6351)CGA>CAA	p.R2117Q		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2117	Extracellular (Potential).|Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)												0.446809	252.156441	252.621809	84	104	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Missense_Mutation	SNP	150904531	150904531	5926	5	C	T	T	31	31	FAT2	T	1	1
GABRA1	2554	broad.mit.edu	36	5	161250587	161250587	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0145-01	TCGA-06-0145-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161250587T>C	uc010jiw.1	+	c.809T>C	c.(808-810)GTC>GCC	p.V270A	GABRA1_uc010jix.1_Missense_Mutation_p.V270A|GABRA1_uc010jiy.1_Missense_Mutation_p.V270A|GABRA1_uc003lyx.2_Missense_Mutation_p.V270A|GABRA1_uc010jiz.1_Missense_Mutation_p.V270A|GABRA1_uc010jja.1_Missense_Mutation_p.V270A|GABRA1_uc010jjb.1_Missense_Mutation_p.V270A	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	270	Helical; (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			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)			Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)									0.404255	124.344722	125.093722	38	56	TT		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Missense_Mutation	SNP	161250587	161250587	6411	5	T	C	C	58	58	GABRA1	C	4	4
LAMA2	3908	broad.mit.edu	36	6	129412921	129412921	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:129412921C>T	uc003qbn.1	+	c.278C>T	c.(277-279)CCA>CTA	p.P93L	LAMA2_uc003qbo.1_Missense_Mutation_p.P93L|LAMA2_uc010kfe.1_Missense_Mutation_p.P93L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	93	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9														0.305085	44.923394	46.925646	18	41	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	Missense_Mutation	SNP	129412921	129412921	8929	6	C	T	T	21	21	LAMA2	T	2	2
GRM1	2911	broad.mit.edu	36	6	146762214	146762214	+	Silent	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:146762214C>T	uc010khw.1	+	c.2346C>T	c.(2344-2346)AAC>AAT	p.N782N	GRM1_uc010khv.1_Silent_p.N782N|GRM1_uc003qll.2_Silent_p.N782N	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	782	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)			Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.142045	38.180561	59.909336	25	151	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Silent	SNP	146762214	146762214	7075	6	C	T	T	19	19	GRM1	T	1	1
GRM1	2911	broad.mit.edu	36	6	146762463	146762463	+	Silent	SNP	G	C	C			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:146762463G>C	uc010khw.1	+	c.2595G>C	c.(2593-2595)CTG>CTC	p.L865L	GRM1_uc010khv.1_Silent_p.L865L|GRM1_uc003qll.2_Silent_p.L865L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	865	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)			Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.25	10.776389	11.906003	5	15	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Silent	SNP	146762463	146762463	7075	6	G	C	C	46	46	GRM1	C	3	3
GRM1	2911	broad.mit.edu	36	6	146796940	146796940	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:146796940G>A	uc010khw.1	+	c.2900G>A	c.(2899-2901)CGC>CAC	p.R967H	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	967	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R967H(1)		ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)			Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.385417	204.606513	206.814636	74	118	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Missense_Mutation	SNP	146796940	146796940	7075	6	G	A	A	38	38	GRM1	A	1	1
C6orf211	79624	broad.mit.edu	36	6	151831309	151831309	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:151831309C>G	uc003qok.1	+	c.697C>G	c.(697-699)CTT>GTT	p.L233V		NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	233							protein binding				0														0.130137	33.818554	53.252905	19	127	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	Missense_Mutation	SNP	151831309	151831309	2459	6	C	G	G	28	28	C6orf211	G	3	3
MYCT1	80177	broad.mit.edu	36	6	153084984	153084984	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:153084984G>A	uc003qpd.2	+	c.611G>A	c.(610-612)CGT>CAT	p.R204H	MYCT1_uc010kjc.1_Missense_Mutation_p.R156H|MYCT1_uc003qpc.2_Missense_Mutation_p.R204H	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	204						nucleus				ovary(1)	1		Ovarian(120;0.0654)												0.428571	178.880041	179.502367	60	80	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	Missense_Mutation	SNP	153084984	153084984	10417	6	G	A	A	40	40	MYCT1	A	1	1
TAP1	6890	broad.mit.edu	36	6	32923829	32923829	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:32923829G>A	uc003ocg.1	-	c.1765C>T	c.(1765-1767)CGC>TGC	p.R589C		NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	589	Cytoplasmic (Potential).|ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0														0.514286	51.945668	51.951735	18	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32923829	32923829	16071	6	G	A	A	40	40	TAP1	A	1	1
RUNX2	860	broad.mit.edu	36	6	45622659	45622659	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:45622659C>T	uc003oxq.1	+	c.1409C>T	c.(1408-1410)CCG>CTG	p.P470L	RUNX2_uc003oxr.1_Missense_Mutation_p.P448L|RUNX2_uc003oxt.1_Missense_Mutation_p.P388L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	402	Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.|Interaction with MYST4.				negative regulation of transcription, DNA-dependent|osteoblast differentiation	nucleus	ATP binding|DNA binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(2)	2										190				0.472441	180.390756	180.474438	60	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45622659	45622659	14228	6	C	T	T	23	23	RUNX2	T	1	1
ZNF292	23036	broad.mit.edu	36	6	88026447	88026447	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:88026447A>G	uc003plm.2	+	c.6381A>G	c.(6379-6381)ATA>ATG	p.I2127M		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2127	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)												0.384	167.679731	169.151412	48	77	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0199)	Missense_Mutation	SNP	88026447	88026447	18418	6	A	G	G	14	14	ZNF292	G	4	4
KEL	3792	broad.mit.edu	36	7	142361084	142361084	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142361084C>T	uc003wcb.1	-	c.1006G>A	c.(1006-1008)GTG>ATG	p.V336M		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	336	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)													0.268344	332.017383	355.115746	128	349	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142361084	142361084	8448	7	C	T	T	19	19	KEL	T	1	1
HDAC9	9734	broad.mit.edu	36	7	18755252	18755252	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:18755252G>A	uc003sui.1	+	c.2009G>A	c.(2008-2010)CGA>CAA	p.R670Q	HDAC9_uc003sue.1_Missense_Mutation_p.R667Q|HDAC9_uc003suh.1_Missense_Mutation_p.R667Q|HDAC9_uc003suj.1_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc003sug.1_Missense_Mutation_p.R667Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	667	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.369565	49.770882	50.455441	17	29	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18755252	18755252	7297	7	G	A	A	37	37	HDAC9	A	1	1
ZPBP	11055	broad.mit.edu	36	7	50068158	50068158	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:50068158G>A	uc003tou.1	-	c.460C>T	c.(460-462)CGT>TGT	p.R154C	ZPBP_uc010kyw.1_Missense_Mutation_p.R153C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	154					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)													0.221053	49.834514	56.6311	21	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50068158	50068158	18823	7	G	A	A	40	40	ZPBP	A	1	1
POM121L12	285877	broad.mit.edu	36	7	53071124	53071124	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:53071124C>T	uc003tpz.1	+	c.266C>T	c.(265-267)CCG>CTG	p.P89L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	hypothetical protein LOC285877	89											0														0.309859	56.940959	59.219276	22	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53071124	53071124	12669	7	C	T	T	23	23	POM121L12	T	1	1
SEMA3C	10512	broad.mit.edu	36	7	80225629	80225629	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:80225629C>T	uc003uhj.1	-	c.1597G>A	c.(1597-1599)GCC>ACC	p.A533T		NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C	533					immune response|response to drug	membrane	receptor activity			ovary(1)	1														0.108808	17.062822	46.304122	21	172	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80225629	80225629	14512	7	C	T	T	27	27	SEMA3C	T	1	1
PDK4	5166	broad.mit.edu	36	7	95054340	95054340	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:95054340C>T	uc003uoa.1	-	c.1013G>A	c.(1012-1014)CGT>CAT	p.R338H	PDK4_uc003unz.1_Missense_Mutation_p.R126H	NM_002612	NP_002603	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase 4	338	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity				0	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)									1033				0.142857	8.519898	13.686078	6	36	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0151)		Missense_Mutation	SNP	95054340	95054340	12099	7	C	T	T	19	19	PDK4	T	1	1
TRPA1	8989	broad.mit.edu	36	8	73100822	73100822	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:73100822C>A	uc003xza.1	-	c.2978G>T	c.(2977-2979)TGG>TTG	p.W993L		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	993	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6					Menthol(DB00825)									0.377778	98.523461	99.704948	34	56	CC		KEEP	---	---	---	---	capture	Epithelial(68;0.223)		Missense_Mutation	SNP	73100822	73100822	17128	8	C	A	A	21	21	TRPA1	A	3	3
DOCK8	81704	broad.mit.edu	36	9	276581	276581	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:276581G>A	uc003zgf.1	+	c.277G>A	c.(277-279)GTG>ATG	p.V93M	DOCK8_uc003zgi.1_Missense_Mutation_p.V25M|DOCK8_uc010mgu.1_De_novo_Start_InFrame|DOCK8_uc010mgv.1_Missense_Mutation_p.V25M|DOCK8_uc010mgt.1_Missense_Mutation_p.V25M|DOCK8_uc003zgg.1_Missense_Mutation_p.V25M|DOCK8_uc003zgh.1_Non-coding_Transcript	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	93					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V25M(1)		ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)												0.619048	124.637611	125.420781	39	24	GG		KEEP	---	---	---	---	capture		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	Missense_Mutation	SNP	276581	276581	4877	9	G	A	A	40	40	DOCK8	A	1	1
RGAG1	57529	broad.mit.edu	36	X	109581221	109581221	+	Silent	SNP	A	G	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:109581221A>G	uc004eor.1	+	c.720A>G	c.(718-720)GAA>GAG	p.E240E		NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	240										lung(2)|ovary(1)	3														0.434343	291.025889	291.769048	86	112	AA		KEEP	---	---	---	---	capture			Silent	SNP	109581221	109581221	13747	23	A	G	G	3	3	RGAG1	G	4	4
ODZ1	10178	broad.mit.edu	36	X	123465114	123465114	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0145-01	TCGA-06-0145-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:123465114T>C	uc010nqy.1	-	c.3422A>G	c.(3421-3423)CAT>CGT	p.H1141R	ODZ1_uc004euj.1_Missense_Mutation_p.H1141R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1	1141	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.406593	357.773349	359.854397	111	162	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123465114	123465114	11239	23	T	C	C	51	51	ODZ1	C	4	4
GABRE	2564	broad.mit.edu	36	X	150880495	150880495	+	Splice_Site_SNP	SNP	T	A	A			TCGA-06-0145-01	TCGA-06-0145-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:150880495T>A	uc004ffi.1	-	c.564_splice	c.e5-1	p.R188_splice	GABRE_uc004ffg.1_Splice_Site_SNP_p.R43_splice|GABRE_uc004fff.1_Splice_Site_SNP_p.R75_splice|GABRE_uc004ffh.1_Splice_Site_SNP_p.R75_splice|MIR224_hsa-mir-224|MI0000301_5'Flank	NM_004961	NP_068830			gamma-aminobutyric acid (GABA) A receptor,						gamma-aminobutyric acid signaling pathway	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	Acute lymphoblastic leukemia(192;6.56e-05)													0.383562	83.406823	84.265583	28	45	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	150880495	150880495	6421	23	T	A	A	55	55	GABRE	A	5	4
ATP2B3	492	broad.mit.edu	36	X	152455070	152455070	+	Silent	SNP	C	T	T			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152455070C>T	uc004fht.1	+	c.171C>T	c.(169-171)AGC>AGT	p.S57S	ATP2B3_uc004fhs.1_Silent_p.S57S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	57	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.5	18.750326	18.750326	6	6	CC		KEEP	---	---	---	---	capture			Silent	SNP	152455070	152455070	1160	23	C	T	T	27	27	ATP2B3	T	1	1
SCML2	10389	broad.mit.edu	36	X	18170571	18170571	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:18170571G>T	uc004cyl.2	-	c.1883C>A	c.(1882-1884)CCT>CAT	p.P628H	SCML2_uc004cyk.2_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc010nfc.1_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	628					anatomical structure morphogenesis|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					Esophageal Squamous(100;1252 1965 19021 35517)								0.378378	122.126864	123.566058	42	69	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18170571	18170571	14392	23	G	T	T	35	35	SCML2	T	3	3
CNKSR2	22866	broad.mit.edu	36	X	21580385	21580385	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:21580385A>G	uc004czx.1	+	c.2930A>G	c.(2929-2931)GAC>GGC	p.D977G		NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	977					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)	1														0.358108	175.65809	178.271715	53	95	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21580385	21580385	3745	23	A	G	G	10	10	CNKSR2	G	4	4
DMD	1756	broad.mit.edu	36	X	31896509	31896509	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:31896509G>A	uc004dda.1	-	c.6482C>T	c.(6481-6483)ACA>ATA	p.T2161I	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.T817I|DMD_uc004dcx.2_Missense_Mutation_p.T820I|DMD_uc004dcz.2_Missense_Mutation_p.T2038I|DMD_uc004dcy.1_Missense_Mutation_p.T2157I|DMD_uc004ddb.1_Missense_Mutation_p.T2153I|DMD_uc010ngo.1_Missense_Mutation_p.T70I|DMD_uc010ngn.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2161	Spectrin 15.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.463768	186.575806	186.734518	64	74	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31896509	31896509	4760	23	G	A	A	48	48	DMD	A	2	2
PIM2	11040	broad.mit.edu	36	X	48656442	48656442	+	Silent	SNP	C	A	A			TCGA-06-0145-01	TCGA-06-0145-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48656442C>A	uc004dls.1	-	c.846G>T	c.(844-846)CTG>CTT	p.L282L	SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc004dlq.1_5'Flank	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	282	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein phosphorylation|response to virus		ATP binding|protein serine/threonine kinase activity			lung(2)|stomach(1)	3										33				0.428571	25.771059	25.864606	9	12	CC		KEEP	---	---	---	---	capture			Silent	SNP	48656442	48656442	12352	23	C	A	A	21	21	PIM2	A	3	3
P2RY4	5030	broad.mit.edu	36	X	69395511	69395511	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69395511G>T	uc004dxz.1	-	c.689C>A	c.(688-690)CCC>CAC	p.P230H		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	230	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0														0.393939	34.063106	34.389405	13	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69395511	69395511	11766	23	G	T	T	43	43	P2RY4	T	3	3
KIF4A	24137	broad.mit.edu	36	X	69543580	69543580	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69543580A>G	uc004dyg.1	+	c.3185A>G	c.(3184-3186)GAT>GGT	p.D1062G	KIF4A_uc010nkw.1_Missense_Mutation_p.D1062G	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1062	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4														0.411765	68.669841	69.015491	21	30	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69543580	69543580	8614	23	A	G	G	12	12	KIF4A	G	4	4
MED12	9968	broad.mit.edu	36	X	70268675	70268675	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0145-01	TCGA-06-0145-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70268675G>A	uc004dyy.1	+	c.4147G>A	c.(4147-4149)GCC>ACC	p.A1383T	MED12_uc004dyz.1_Missense_Mutation_p.A1383T|MED12_uc004dza.1_Missense_Mutation_p.A1230T|MED12_uc010nla.1_Missense_Mutation_p.A9T	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1383					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)													0.423077	96.761077	97.163828	33	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70268675	70268675	9817	23	G	A	A	38	38	MED12	A	1	1
DIAPH2	1730	broad.mit.edu	36	X	96058116	96058116	+	Silent	SNP	A	G	G			TCGA-06-0145-01	TCGA-06-0145-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:96058116A>G	uc004efu.2	+	c.756A>G	c.(754-756)GGA>GGG	p.G252G	DIAPH2_uc004eft.2_Silent_p.G252G|DIAPH2_uc004efs.2_Silent_p.G259G	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	252	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4														0.375	49.517307	50.065197	15	25	AA		KEEP	---	---	---	---	capture			Silent	SNP	96058116	96058116	4698	23	A	G	G	11	11	DIAPH2	G	4	4
GPR143	4935	broad.mit.edu	36	X	9671643	9671643	+	Frame_Shift_Del	DEL	C	-	-			TCGA-06-0145-01	TCGA-06-0145-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:9671643_9671643delC	uc004cst.1	-	c.789_789delG	c.(787-789)AAGfs	p.K263fs		NM_000273	NP_000264	P51810	GP143_HUMAN	G protein-coupled receptor 143	243	Cytoplasmic (Potential).				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			ovary(1)	1		Hepatocellular(5;0.000888)												0.38			83	135				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	9671643	9671643	6925	23	C	-	-	32	32	GPR143	-	5	5
