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
LOXL4	84171	broad.mit.edu	37	10	100021845	100021845	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:100021845G>A	uc001kpa.1	-	c.403C>T	c.(403-405)CGG>TGG	p.R135W		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	135					oxidation-reduction process	extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)	4		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)										0.114286	4.875925	10.008354	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100021845	100021845	9275	10	G	A	A	A	506	39	LOXL4	1	1
C10orf26	54838	broad.mit.edu	37	10	104573073	104573073	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104573073C>G	uc001kwf.3	+	c.1077C>G	c.(1075-1077)AGC>AGG	p.S359R	C10orf26_uc009xxg.1_Intron|C10orf26_uc001kwe.3_Missense_Mutation_p.S338R	NM_001083913	NP_001077382	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 1	338	Poly-Ser.					integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)										0.297297	34.109866	35.469514	11	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104573073	104573073	1636	10	C	G	G	G	324	25	C10orf26	3	3
C10orf119	79892	broad.mit.edu	37	10	121591603	121591603	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:121591603C>G	uc001ler.2	-	c.1723G>C	c.(1723-1725)GAT>CAT	p.D575H	C10orf119_uc001leq.1_Missense_Mutation_p.D400H|C10orf119_uc001les.1_Missense_Mutation_p.D400H	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	chromosome 10 open reading frame 119	575					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding				0		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.0044)										0.188119	49.161409	58.359581	19	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121591603	121591603	1623	10	C	G	G	G	416	32	C10orf119	3	3
ANKRD26	22852	broad.mit.edu	37	10	27303585	27303585	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:27303585G>T	uc009xku.1	-	c.4562C>A	c.(4561-4563)TCA>TAA	p.S1521*	ANKRD26_uc001itg.2_Nonsense_Mutation_p.S1207*|ANKRD26_uc001ith.2_Nonsense_Mutation_p.S1520*	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1520	Potential.			NNFASMK -> KQDLPDS (in Ref. 3; BAC87508).						large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4														0.105263	2.96971	8.857873	4	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27303585	27303585	659	10	G	T	T	T	585	45	ANKRD26	5	2
WAC	51322	broad.mit.edu	37	10	28905133	28905133	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:28905133C>T	uc001iuf.2	+	c.1588C>T	c.(1588-1590)CAT>TAT	p.H530Y	WAC_uc001iud.2_Missense_Mutation_p.H485Y|WAC_uc001iue.2_Missense_Mutation_p.H220Y|WAC_uc001iug.2_Missense_Mutation_p.H427Y|WAC_uc001iuh.2_Missense_Mutation_p.H481Y	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	530					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2														0.090909	5.822375	37.383512	17	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28905133	28905133	17819	10	C	T	T	T	377	29	WAC	2	2
C10orf25	220979	broad.mit.edu	37	10	45496131	45496131	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:45496131G>T	uc001jbv.1	-	c.177C>A	c.(175-177)TAC>TAA	p.Y59*	C10orf25_uc010qff.1_Non-coding_Transcript|ZNF22_uc001jbw.2_5'Flank	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN	hypothetical protein LOC220979 precursor	59						extracellular region					0														0.179104	26.968968	33.452759	12	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45496131	45496131	1635	10	G	T	T	T	464	36	C10orf25	5	2
LRRTM3	347731	broad.mit.edu	37	10	68686790	68686790	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:68686790G>A	uc001jmz.1	+	c.116G>A	c.(115-117)AGG>AAG	p.R39K	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.R39K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	39	Extracellular (Potential).|LRRNT.					integral to membrane				ovary(1)	1														0.096774	7.400066	22.556223	9	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68686790	68686790	9417	10	G	A	A	A	455	35	LRRTM3	2	2
ITIH2	3698	broad.mit.edu	37	10	7755192	7755192	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7755192G>A	uc001ijs.2	+	c.411G>A	c.(409-411)GTG>GTA	p.V137V		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	137	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.252336	71.377362	77.335423	27	80	KEEP	---	---	---	---	capture		Silent	SNP	7755192	7755192	8208	10	G	A	A	A	600	47	ITIH2	2	2
DYDC2	84332	broad.mit.edu	37	10	82126613	82126613	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:82126613A>T	uc001kca.1	+	c.440A>T	c.(439-441)CAG>CTG	p.Q147L	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.Q147L	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	147							protein binding				0			Colorectal(32;0.229)											0.27907	166.20957	175.646838	60	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82126613	82126613	5025	10	A	T	T	T	91	7	DYDC2	3	3
RNLS	55328	broad.mit.edu	37	10	90332672	90332672	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90332672C>A	uc001kfe.2	-	c.514G>T	c.(514-516)GAC>TAC	p.D172Y	RNLS_uc010qms.1_Missense_Mutation_p.D89Y|RNLS_uc001kfd.2_Missense_Mutation_p.D172Y	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	172					oxidation-reduction process	extracellular region	oxidoreductase activity			ovary(1)	1														0.140845	13.801132	22.64229	10	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90332672	90332672	13984	10	C	A	A	A	377	29	RNLS	2	2
SORBS1	10580	broad.mit.edu	37	10	97174268	97174269	+	Nonsense_Mutation	DNP	CC	AA	AA	rs11188316	byFrequency;by1000genomes	TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97174268_97174269CC>AA	uc001kkp.2	-	c.792_793GG>TT	c.(790-795)ACGGGA>ACTTGA	p.G265*	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Nonsense_Mutation_p.G265*|SORBS1_uc001kkq.2_Nonsense_Mutation_p.G196*|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Non-coding_Transcript|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Nonsense_Mutation_p.G233*|SORBS1_uc001kkw.2_Nonsense_Mutation_p.G265*|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Nonsense_Mutation_p.G463*|SORBS1_uc001kkx.1_Nonsense_Mutation_p.G233*	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	265					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)										0.299213	102.596299	107.174243	38	89	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	97174268	97174269	15427	10	CC	AA	AA	AA	286	22	SORBS1	5	2
MUC2	4583	broad.mit.edu	37	11	1078320	1078320	+	Missense_Mutation	SNP	G	A	A	rs72652894		TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1078320G>A	uc001lsx.1	+	c.607G>A	c.(607-609)GAT>AAT	p.D203N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	203	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)									0.161538	39.193668	53.359981	21	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1078320	1078320	10369	11	G	A	A	A	481	37	MUC2	1	1
DSCAML1	57453	broad.mit.edu	37	11	117647510	117647510	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117647510G>A	uc001prh.1	-	c.687C>T	c.(685-687)ATC>ATT	p.I229I	DSCAML1_uc001pri.1_Silent_p.I33I	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	169	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)										0.077778	-4.801321	11.838229	7	83	KEEP	---	---	---	---	capture		Silent	SNP	117647510	117647510	4953	11	G	A	A	A	525	41	DSCAML1	2	2
ATP5L	10632	broad.mit.edu	37	11	118279753	118279753	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118279753G>T	uc001psx.2	+	c.252G>T	c.(250-252)TTG>TTT	p.L84F		NM_006476	NP_006467	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	84					ATP catabolic process|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)										0.409091	51.259311	51.571564	18	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118279753	118279753	1179	11	G	T	T	T	581	45	ATP5L	2	2
TECTA	7007	broad.mit.edu	37	11	120996139	120996139	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120996139C>T	uc010rzo.1	+	c.1332C>T	c.(1330-1332)TAC>TAT	p.Y444Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	444	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)										0.456562	748.342269	749.233077	247	294	KEEP	---	---	---	---	capture		Silent	SNP	120996139	120996139	16274	11	C	T	T	T	246	19	TECTA	1	1
VWA5A	4013	broad.mit.edu	37	11	124007327	124007327	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124007327G>C	uc001pzu.2	+	c.1571G>C	c.(1570-1572)GGC>GCC	p.G524A	VWA5A_uc001pzt.2_Missense_Mutation_p.G524A	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	524										ovary(1)	1														0.483146	310.337922	310.386067	86	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124007327	124007327	17811	11	G	C	C	C	546	42	VWA5A	3	3
ROBO3	64221	broad.mit.edu	37	11	124740078	124740078	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124740078C>T	uc001qbc.2	+	c.784C>T	c.(784-786)CGC>TGC	p.R262C		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	262	Ig-like C2-type 3.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)										0.072	-3.128877	20.451941	9	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124740078	124740078	13994	11	C	T	T	T	351	27	ROBO3	1	1
MUC5B	727897	broad.mit.edu	37	11	1265896	1265896	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1265896C>T	uc009ycr.1	+	c.9700C>T	c.(9700-9702)CCC>TCC	p.P3234S	MUC5B_uc001ltb.2_Missense_Mutation_p.P2599S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2596	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.109756	4.009117	16.414136	9	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1265896	1265896	10373	11	C	T	T	T	286	22	MUC5B	2	2
MUC5B	727897	broad.mit.edu	37	11	1273700	1273700	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1273700G>A	uc009ycr.1	+	c.15957G>A	c.(15955-15957)CCG>CCA	p.P5319P	MUC5B_uc001ltb.2_Silent_p.P5000P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4997					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.25	12.14453	13.509224	6	18	KEEP	---	---	---	---	capture		Silent	SNP	1273700	1273700	10373	11	G	A	A	A	483	38	MUC5B	1	1
LDHAL6A	160287	broad.mit.edu	37	11	18497989	18497989	+	Silent	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18497989T>C	uc001mop.1	+	c.651T>C	c.(649-651)GAT>GAC	p.D217D	LDHAL6A_uc001moq.2_Silent_p.D217D	NM_001144071	NP_001137543	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	217					glycolysis|oxidation-reduction process	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)									0.130769	36.194674	53.418273	17	113	KEEP	---	---	---	---	capture		Silent	SNP	18497989	18497989	9023	11	T	C	C	C	634	49	LDHAL6A	4	4
LIN7C	55327	broad.mit.edu	37	11	27528274	27528274	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:27528274C>G	uc001mrl.2	-	c.26G>C	c.(25-27)CGG>CCG	p.R9P	LIN7C_uc009yii.2_Missense_Mutation_p.R9P|BDNFOS_uc001mrm.2_5'Flank|BDNFOS_uc009yij.2_5'Flank|BDNFOS_uc009yik.2_5'Flank|BDNFOS_uc009yil.2_5'Flank|BDNFOS_uc001mrp.2_5'Flank|BDNFOS_uc009yim.2_5'Flank|BDNFOS_uc009yin.2_5'Flank|BDNFOS_uc009yio.2_5'Flank|BDNFOS_uc009yip.2_5'Flank|BDNFOS_uc001mrn.2_5'Flank|BDNFOS_uc009yiq.2_5'Flank|BDNFOS_uc001mro.2_5'Flank|BDNFOS_uc009yir.2_5'Flank|BDNFOS_uc009yis.2_5'Flank|BDNFOS_uc009yit.2_5'Flank|BDNFOS_uc009yiu.2_5'Flank|BDNFOS_uc009yiv.2_5'Flank|BDNFOS_uc009yiw.2_5'Flank|BDNFOS_uc009yix.2_5'Flank|BDNFOS_uc009yiy.2_5'Flank|BDNFOS_uc009yiz.2_5'Flank|BDNFOS_uc001mrq.3_5'Flank|BDNFOS_uc001mrr.3_5'Flank|BDNFOS_uc009yja.2_5'Flank|BDNFOS_uc009yjb.2_5'Flank	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	9	Kinase interacting site (By similarity).				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0														0.162791	29.302044	38.591249	14	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27528274	27528274	9139	11	C	G	G	G	299	23	LIN7C	3	3
C11orf46	120534	broad.mit.edu	37	11	30352809	30352809	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30352809T>C	uc001mso.1	+	c.314T>C	c.(313-315)TTT>TCT	p.F105S		NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	hypothetical protein LOC120534	105											0														0.104167	14.277412	29.243367	10	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30352809	30352809	1682	11	T	C	C	C	832	64	C11orf46	4	4
ZNF195	7748	broad.mit.edu	37	11	3381328	3381328	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:3381328C>A	uc001lxt.2	-	c.910G>T	c.(910-912)GAA>TAA	p.E304*	ZNF195_uc001lxv.2_Nonsense_Mutation_p.E281*|ZNF195_uc001lxs.2_Nonsense_Mutation_p.E232*|ZNF195_uc010qxr.1_Nonsense_Mutation_p.E285*|ZNF195_uc009ydz.2_Nonsense_Mutation_p.E259*|ZNF195_uc001lxu.2_Nonsense_Mutation_p.E236*	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)										0.153846	38.387274	56.272642	24	132	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3381328	3381328	18349	11	C	A	A	A	416	32	ZNF195	5	2
ART5	116969	broad.mit.edu	37	11	3661475	3661475	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:3661475C>T	uc001lyb.1	-	c.184G>A	c.(184-186)GCC>ACC	p.A62T	ART5_uc001lyc.1_Missense_Mutation_p.A62T|ART5_uc001lyd.2_Missense_Mutation_p.A62T|ART5_uc009yea.2_Missense_Mutation_p.A62T	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5 precursor	62						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.3	43.220664	45.36871	18	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3661475	3661475	1018	11	C	T	T	T	325	25	ART5	2	2
TTC17	55761	broad.mit.edu	37	11	43411267	43411267	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:43411267G>C	uc001mxi.2	+	c.315G>C	c.(313-315)CAG>CAC	p.Q105H	TTC17_uc001mxh.2_Missense_Mutation_p.Q105H|TTC17_uc010rfj.1_Missense_Mutation_p.Q48H	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	105							binding			ovary(5)	5														0.054264	-8.889889	18.128497	7	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43411267	43411267	17238	11	G	C	C	C	425	33	TTC17	3	3
TTC17	55761	broad.mit.edu	37	11	43411289	43411289	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:43411289G>A	uc001mxi.2	+	c.337G>A	c.(337-339)GAC>AAC	p.D113N	TTC17_uc001mxh.2_Missense_Mutation_p.D113N|TTC17_uc010rfj.1_Missense_Mutation_p.D56N	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	113							binding			ovary(5)	5														0.082278	3.943104	32.000756	13	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43411289	43411289	17238	11	G	A	A	A	429	33	TTC17	2	2
MYBPC3	4607	broad.mit.edu	37	11	47364614	47364614	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47364614C>T	uc001nfa.3	-	c.1309G>A	c.(1309-1311)GTG>ATG	p.V437M	MYBPC3_uc010rhl.1_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	436	Ig-like C2-type 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)										0.222222	9.489791	10.76792	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47364614	47364614	10408	11	C	T	T	T	247	19	MYBPC3	1	1
OR4A15	81328	broad.mit.edu	37	11	55136023	55136023	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55136023G>T	uc010rif.1	+	c.664G>T	c.(664-666)GTC>TTC	p.V222F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	222	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.135135	24.247237	38.570993	15	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55136023	55136023	11446	11	G	T	T	T	624	48	OR4A15	2	2
OR5M9	390162	broad.mit.edu	37	11	56230488	56230488	+	Silent	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56230488A>G	uc010rjj.1	-	c.390T>C	c.(388-390)TAT>TAC	p.Y130Y		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.447368	106.240977	106.424259	34	42	KEEP	---	---	---	---	capture		Silent	SNP	56230488	56230488	11587	11	A	G	G	G	102	8	OR5M9	4	4
AHNAK	79026	broad.mit.edu	37	11	62300197	62300197	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62300197G>A	uc001ntl.2	-	c.1692C>T	c.(1690-1692)ACC>ACT	p.T564T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	564					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.284553	94.775816	99.90014	35	88	KEEP	---	---	---	---	capture		Silent	SNP	62300197	62300197	417	11	G	A	A	A	496	39	AHNAK	1	1
POLR2G	5436	broad.mit.edu	37	11	62532822	62532822	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62532822C>T	uc001nva.2	+	c.344C>T	c.(343-345)TCA>TTA	p.S115L	POLR2G_uc001nvb.2_Non-coding_Transcript	NM_002696	NP_002687	P62487	RPB7_HUMAN	DNA directed RNA polymerase II polypeptide G	115					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding				0														0.157447	63.616267	89.929508	37	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62532822	62532822	12648	11	C	T	T	T	377	29	POLR2G	2	2
SART1	9092	broad.mit.edu	37	11	65732040	65732040	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65732040G>C	uc001ogl.2	+	c.426G>C	c.(424-426)AAG>AAC	p.K142N	SART1_uc010rot.1_5'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	142					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1														0.166667	45.928784	60.478646	23	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65732040	65732040	14327	11	G	C	C	C	451	35	SART1	3	3
OR2AG2	338755	broad.mit.edu	37	11	6789999	6789999	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6789999C>A	uc001meq.1	-	c.190G>T	c.(190-192)GGG>TGG	p.G64W		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.202312	77.429265	91.672332	35	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6789999	6789999	11391	11	C	A	A	A	273	21	OR2AG2	2	2
OR10A4	283297	broad.mit.edu	37	11	6898297	6898297	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6898297T>A	uc010rat.1	+	c.419T>A	c.(418-420)ATA>AAA	p.I140K		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	140	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.20339	26.322055	31.20696	12	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6898297	6898297	11298	11	T	A	A	A	637	49	OR10A4	3	3
PDE2A	5138	broad.mit.edu	37	11	72290425	72290425	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:72290425G>A	uc010rrc.1	-	c.2259C>T	c.(2257-2259)GAC>GAT	p.D753D	PDE2A_uc001oso.2_Silent_p.D732D|PDE2A_uc010rra.1_Silent_p.D746D|PDE2A_uc001osn.2_Silent_p.D497D|PDE2A_uc010rrb.1_Silent_p.D744D|PDE2A_uc010rrd.1_Silent_p.D638D	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	753	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)									0.322917	81.489729	84.16349	31	65	KEEP	---	---	---	---	capture		Silent	SNP	72290425	72290425	12057	11	G	A	A	A	464	36	PDE2A	2	2
TSKU	25987	broad.mit.edu	37	11	76507537	76507537	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76507537C>G	uc001oxt.2	+	c.877C>G	c.(877-879)CCC>GCC	p.P293A		NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	tsukushin precursor	293	LRR 10.					extracellular region					0	Ovarian(111;0.112)													0.452381	53.438275	53.542272	19	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76507537	76507537	17178	11	C	G	G	G	338	26	TSKU	3	3
NLRP10	338322	broad.mit.edu	37	11	7982783	7982784	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7982783_7982784GG>CT	uc001mfv.1	-	c.375_376CC>AG	c.(373-378)CTCCTG>CTAGTG	p.L126V		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	126							ATP binding			lung(4)|ovary(2)|kidney(1)|pancreas(1)	8				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)						109				0.119266	19.097365	34.606938	13	96	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	7982783	7982784	10875	11	GG	CT	CT	CT	451	35	NLRP10	3	3
RIC3	79608	broad.mit.edu	37	11	8159825	8159825	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:8159825T>C	uc010rbm.1	-	c.421A>G	c.(421-423)AAA>GAA	p.K141E	RIC3_uc001mgb.2_5'UTR|RIC3_uc001mgc.2_Missense_Mutation_p.K141E|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.K91E|RIC3_uc001mgd.2_Missense_Mutation_p.K141E|RIC3_uc009yfm.2_Missense_Mutation_p.K141E|RIC3_uc009yfn.2_Intron	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	141	Potential.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)										0.234921	226.509713	246.738349	74	241	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8159825	8159825	13829	11	T	C	C	C	806	62	RIC3	4	4
FAT3	120114	broad.mit.edu	37	11	92534374	92534374	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92534374T>C	uc001pdj.3	+	c.8195T>C	c.(8194-8196)ATT>ACT	p.I2732T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2732	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.133333	8.081367	11.993342	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92534374	92534374	5927	11	T	C	C	C	676	52	FAT3	4	4
HVCN1	84329	broad.mit.edu	37	12	111099152	111099152	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111099152G>A	uc001trs.1	-	c.123C>T	c.(121-123)AAC>AAT	p.N41N	HVCN1_uc001trq.1_Silent_p.N41N|HVCN1_uc001trt.1_Silent_p.N41N|HVCN1_uc010syd.1_Silent_p.N21N	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	41	Cytoplasmic (Potential).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity				0														0.2375	46.806765	51.844667	19	61	KEEP	---	---	---	---	capture		Silent	SNP	111099152	111099152	7762	12	G	A	A	A	464	36	HVCN1	2	2
CABP1	9478	broad.mit.edu	37	12	121098634	121098634	+	Silent	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121098634T>A	uc001tyu.2	+	c.930T>A	c.(928-930)GCT>GCA	p.A310A	CABP1_uc001tyv.2_Silent_p.A167A|CABP1_uc001tyw.2_Silent_p.A107A|CABP1_uc001tyx.2_Silent_p.A152A	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	calcium binding protein 1 isoform 3	310	EF-hand 3.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.256604	165.291539	179.517094	68	197	KEEP	---	---	---	---	capture		Silent	SNP	121098634	121098634	2647	12	T	A	A	A	717	56	CABP1	3	3
PYROXD1	79912	broad.mit.edu	37	12	21614019	21614019	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21614019G>A	uc001rew.2	+	c.811G>A	c.(811-813)GAG>AAG	p.E271K	PYROXD1_uc009ziq.2_Missense_Mutation_p.E12K|PYROXD1_uc009zir.2_5'UTR	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	271					oxidation-reduction process		oxidoreductase activity			ovary(1)	1														0.159091	11.994698	16.869378	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21614019	21614019	13324	12	G	A	A	A	585	45	PYROXD1	2	2
IQSEC3	440073	broad.mit.edu	37	12	248332	248332	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:248332C>G	uc001qhw.1	+	c.894C>G	c.(892-894)AGC>AGG	p.S298R	IQSEC3_uc001qhu.1_Missense_Mutation_p.S298R|IQSEC3_uc001qht.1_Missense_Mutation_p.S383R	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	601	Poly-Ser.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)	3	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)										0.5	10.825218	10.825218	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248332	248332	8122	12	C	G	G	G	324	25	IQSEC3	3	3
CACNA1C	775	broad.mit.edu	37	12	2614019	2614019	+	Silent	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2614019C>G	uc009zdu.1	+	c.1125C>G	c.(1123-1125)GCC>GCG	p.A375A	CACNA1C_uc009zdv.1_Silent_p.A372A|CACNA1C_uc001qkb.2_Silent_p.A375A|CACNA1C_uc001qkc.2_Silent_p.A375A|CACNA1C_uc001qke.2_Silent_p.A375A|CACNA1C_uc001qkf.2_Silent_p.A375A|CACNA1C_uc001qjz.2_Silent_p.A375A|CACNA1C_uc001qkd.2_Silent_p.A375A|CACNA1C_uc001qkg.2_Silent_p.A375A|CACNA1C_uc009zdw.1_Silent_p.A375A|CACNA1C_uc001qkh.2_Silent_p.A375A|CACNA1C_uc001qkl.2_Silent_p.A375A|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Silent_p.A375A|CACNA1C_uc001qkp.2_Silent_p.A375A|CACNA1C_uc001qkr.2_Silent_p.A375A|CACNA1C_uc001qku.2_Silent_p.A375A|CACNA1C_uc001qkq.2_Silent_p.A375A|CACNA1C_uc001qks.2_Silent_p.A375A|CACNA1C_uc001qkt.2_Silent_p.A375A|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Intron|CACNA1C_uc009zdy.1_Intron|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	375	I.|Extracellular (Potential).				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			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.159091	13.997223	18.868849	7	37	KEEP	---	---	---	---	capture		Silent	SNP	2614019	2614019	2656	12	C	G	G	G	288	23	CACNA1C	3	3
NELL2	4753	broad.mit.edu	37	12	45169914	45169914	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45169914C>T	uc010skz.1	-	c.932G>A	c.(931-933)CGA>CAA	p.R311Q	NELL2_uc001rof.3_Missense_Mutation_p.R260Q|NELL2_uc001rog.2_Missense_Mutation_p.R261Q|NELL2_uc001roh.2_Missense_Mutation_p.R261Q|NELL2_uc009zkd.2_Missense_Mutation_p.R260Q|NELL2_uc010sla.1_Missense_Mutation_p.R284Q|NELL2_uc001roi.1_Missense_Mutation_p.R261Q|NELL2_uc010slb.1_Missense_Mutation_p.R260Q|NELL2_uc001roj.2_Missense_Mutation_p.R261Q	NM_001145107	NP_001138579	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform a	261					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			central_nervous_system(1)	1	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)										0.054945	-8.203071	10.779541	5	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45169914	45169914	10733	12	C	T	T	T	403	31	NELL2	1	1
DDX23	9416	broad.mit.edu	37	12	49231355	49231355	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49231355C>T	uc001rsm.2	-	c.705G>A	c.(703-705)CAG>CAA	p.Q235Q		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	235	Glu-rich.				cis assembly of pre-catalytic spliceosome	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)	5														0.07874	0.342235	23.382208	10	117	KEEP	---	---	---	---	capture		Silent	SNP	49231355	49231355	4521	12	C	T	T	T	415	32	DDX23	2	2
LARP4	113251	broad.mit.edu	37	12	50829374	50829374	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50829374A>G	uc001rwo.1	+	c.520A>G	c.(520-522)ACA>GCA	p.T174A	LARP4_uc001rwp.1_Missense_Mutation_p.T168A|LARP4_uc001rwq.1_Missense_Mutation_p.T168A|LARP4_uc001rwr.1_Missense_Mutation_p.T168A|LARP4_uc001rws.1_Missense_Mutation_p.T167A|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Missense_Mutation_p.T168A|LARP4_uc001rwn.2_Missense_Mutation_p.T98A	NM_199188	NP_954658	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform b	168	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(1)	1														0.333333	119.19874	121.777436	35	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50829374	50829374	8953	12	A	G	G	G	182	14	LARP4	4	4
KRT4	3851	broad.mit.edu	37	12	53202129	53202129	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53202129G>A	uc001saz.2	-	c.1296C>T	c.(1294-1296)CTC>CTT	p.L432L		NM_002272	NP_002263	P19013	K2C4_HUMAN	keratin 4	372	Coil 2.|Rod.				cytoskeleton organization|epithelial cell differentiation|negative regulation of epithelial cell proliferation	keratin filament	structural molecule activity			ovary(4)	4						Pancreas(190;284 2995 41444 45903)								0.28692	173.886302	183.549623	68	169	KEEP	---	---	---	---	capture		Silent	SNP	53202129	53202129	8792	12	G	A	A	A	574	45	KRT4	2	2
OR6C1	390321	broad.mit.edu	37	12	55714574	55714574	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55714574T>C	uc010spi.1	+	c.191T>C	c.(190-192)TTC>TCC	p.F64S		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.238095	46.795436	50.740661	15	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55714574	55714574	11600	12	T	C	C	C	806	62	OR6C1	4	4
ZFC3H1	196441	broad.mit.edu	37	12	72036255	72036255	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72036255C>T	uc001swo.2	-	c.1588G>A	c.(1588-1590)GAA>AAA	p.E530K		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	530					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.261438	107.125614	115.008331	40	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72036255	72036255	18221	12	C	T	T	T	416	32	ZFC3H1	2	2
ZFC3H1	196441	broad.mit.edu	37	12	72050808	72050808	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72050808G>A	uc001swo.2	-	c.872C>T	c.(871-873)ACA>ATA	p.T291I	ZFC3H1_uc010sts.1_Missense_Mutation_p.T291I|ZFC3H1_uc001swp.2_Missense_Mutation_p.T291I	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	291					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.233577	71.85035	80.738542	32	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72050808	72050808	18221	12	G	A	A	A	624	48	ZFC3H1	2	2
NAV3	89795	broad.mit.edu	37	12	78562616	78562616	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78562616G>T	uc001syp.2	+	c.4951G>T	c.(4951-4953)GCA>TCA	p.A1651S	NAV3_uc001syo.2_Missense_Mutation_p.A1651S|NAV3_uc010sub.1_Missense_Mutation_p.A1137S|NAV3_uc009zsf.2_Missense_Mutation_p.A482S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1651	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.384615	28.642565	28.94648	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78562616	78562616	10581	12	G	T	T	T	442	34	NAV3	2	2
TMTC4	84899	broad.mit.edu	37	13	101257341	101257341	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101257341G>C	uc001vot.2	-	c.2190C>G	c.(2188-2190)ATC>ATG	p.I730M	TMTC4_uc001vou.2_Missense_Mutation_p.I711M|TMTC4_uc010tja.1_Missense_Mutation_p.I600M	NM_032813	NP_116202	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	711	TPR 8.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.173913	73.397233	89.555639	28	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101257341	101257341	16804	13	G	C	C	C	421	33	TMTC4	3	3
GPC6	10082	broad.mit.edu	37	13	94482698	94482698	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:94482698C>A	uc001vlt.2	+	c.611C>A	c.(610-612)CCC>CAC	p.P204H	GPC6_uc010tig.1_Missense_Mutation_p.P204H|GPC6_uc001vlu.1_Missense_Mutation_p.P134H	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	204						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)												0.2	19.321594	23.035458	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94482698	94482698	6876	13	C	A	A	A	286	22	GPC6	2	2
ABCC4	10257	broad.mit.edu	37	13	95724037	95724037	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:95724037C>A	uc001vmd.3	-	c.3089G>T	c.(3088-3090)CGC>CTC	p.R1030L	ABCC4_uc010afk.2_Missense_Mutation_p.R983L	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	1030					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)	3	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)					1222				0.248276	89.686941	98.023586	36	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95724037	95724037	56	13	C	A	A	A	351	27	ABCC4	1	1
WARS	7453	broad.mit.edu	37	14	100820874	100820874	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100820874T>G	uc001yhf.1	-	c.452A>C	c.(451-453)GAA>GCA	p.E151A	WARS_uc001yhe.1_5'Flank|WARS_uc001yhg.1_Missense_Mutation_p.E151A|WARS_uc001yhh.1_Missense_Mutation_p.E151A|WARS_uc001yhi.1_Missense_Mutation_p.E110A|WARS_uc001yhj.1_Missense_Mutation_p.E110A|WARS_uc001yhk.1_Missense_Mutation_p.E110A|WARS_uc001yhl.1_Missense_Mutation_p.E151A|WARS_uc010twz.1_Missense_Mutation_p.E151A	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	151					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)									0.148148	40.308901	56.356545	20	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100820874	100820874	17821	14	T	G	G	G	806	62	WARS	4	4
AHNAK2	113146	broad.mit.edu	37	14	105415206	105415206	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105415206C>T	uc010axc.1	-	c.6582G>A	c.(6580-6582)GGG>GGA	p.G2194G	AHNAK2_uc001ypx.2_Silent_p.G2094G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2194						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)											0.379518	189.268881	191.387903	63	103	KEEP	---	---	---	---	capture		Silent	SNP	105415206	105415206	418	14	C	T	T	T	275	22	AHNAK2	2	2
AHNAK2	113146	broad.mit.edu	37	14	105417681	105417681	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105417681C>T	uc010axc.1	-	c.4107G>A	c.(4105-4107)GGG>GGA	p.G1369G	AHNAK2_uc001ypx.2_Silent_p.G1269G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1369						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)											0.642857	30.978944	31.230603	9	5	KEEP	---	---	---	---	capture		Silent	SNP	105417681	105417681	418	14	C	T	T	T	275	22	AHNAK2	2	2
GPR132	29933	broad.mit.edu	37	14	105517957	105517957	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105517957C>T	uc001yqd.2	-	c.517G>A	c.(517-519)GTT>ATT	p.V173I	GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.V164I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	173	Helical; Name=4; (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)										0.142857	9.693493	15.718194	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105517957	105517957	6916	14	C	T	T	T	247	19	GPR132	1	1
MYH7	4625	broad.mit.edu	37	14	23900998	23900998	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23900998C>T	uc001wjx.2	-	c.611G>A	c.(610-612)CGC>CAC	p.R204H		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	204	Myosin head-like.		R -> H (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)										0.203593	69.24742	82.882408	34	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23900998	23900998	10434	14	C	T	T	T	351	27	MYH7	1	1
LRFN5	145581	broad.mit.edu	37	14	42355929	42355929	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42355929C>A	uc001wvm.2	+	c.101C>A	c.(100-102)GCA>GAA	p.A34E	LRFN5_uc010ana.2_Missense_Mutation_p.A34E	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	34	Extracellular (Potential).|LRRNT.					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)										0.214286	28.887509	33.095511	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42355929	42355929	9314	14	C	A	A	A	325	25	LRFN5	2	2
SDCCAG1	9147	broad.mit.edu	37	14	50307515	50307515	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50307515C>T	uc010anj.1	-	c.427G>A	c.(427-429)GAT>AAT	p.D143N	SDCCAG1_uc001wxc.2_Missense_Mutation_p.D143N|SDCCAG1_uc010tqi.1_Missense_Mutation_p.D143N|SDCCAG1_uc001wxe.2_Missense_Mutation_p.D101N|SDCCAG1_uc010anq.1_Intron	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	143						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)										0.064516	-3.830924	14.504179	6	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50307515	50307515	14442	14	C	T	T	T	416	32	SDCCAG1	2	2
SERPINA4	5267	broad.mit.edu	37	14	95034512	95034512	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95034512T>G	uc010avd.2	+	c.1081T>G	c.(1081-1083)TCT>GCT	p.S361A	SERPINA4_uc001ydk.2_Missense_Mutation_p.S324A|SERPINA4_uc001ydl.2_Missense_Mutation_p.S324A	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	324					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)	3				COAD - Colon adenocarcinoma(157;0.211)										0.143791	100.608484	137.97799	44	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95034512	95034512	14579	14	T	G	G	G	806	62	SERPINA4	4	4
AK7	122481	broad.mit.edu	37	14	96949491	96949491	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96949491G>A	uc001yfn.2	+	c.1909G>A	c.(1909-1911)GAA>AAA	p.E637K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	637	Potential.|Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)										0.185185	10.157449	12.66804	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96949491	96949491	447	14	G	A	A	A	533	41	AK7	2	2
C15orf2	23742	broad.mit.edu	37	15	24922224	24922224	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24922224C>A	uc001ywo.2	+	c.1210C>A	c.(1210-1212)CCT>ACT	p.P404T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	404	Pro-rich.				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				0.238095	36.892106	40.840904	15	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24922224	24922224	1834	15	C	A	A	A	234	18	C15orf2	2	2
TRPM1	4308	broad.mit.edu	37	15	31355390	31355390	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31355390A>T	uc001zfm.2	-	c.830T>A	c.(829-831)GTG>GAG	p.V277E	TRPM1_uc010azy.2_Missense_Mutation_p.V190E|TRPM1_uc001zfl.2_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	277	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)										0.396396	137.983733	139.024029	44	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31355390	31355390	17136	15	A	T	T	T	78	6	TRPM1	3	3
DUOX2	50506	broad.mit.edu	37	15	45387213	45387213	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45387213T>A	uc010bea.2	-	c.4316A>T	c.(4315-4317)AAC>ATC	p.N1439I	DUOX2_uc001zun.2_Missense_Mutation_p.N1439I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1439	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|pancreas(1)	3		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)										0.385965	61.036017	61.685799	22	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45387213	45387213	4986	15	T	A	A	A	780	60	DUOX2	3	3
GNB5	10681	broad.mit.edu	37	15	52418243	52418243	+	Splice_Site_SNP	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52418243T>C	uc002abt.1	-	c.913_splice	c.e11-1	p.C305_splice	GNB5_uc002abr.1_Splice_Site_SNP_p.C263_splice|GNB5_uc002abs.1_Splice_Site_SNP_p.C193_splice	NM_016194	NP_057278			guanine nucleotide-binding protein, beta-5							heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)	1				all cancers(107;0.0163)										0.285714	6.447292	6.735584	2	5	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	52418243	52418243	6790	15	T	C	C	C	715	55	GNB5	5	4
MORF4L1	10933	broad.mit.edu	37	15	79186452	79186452	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79186452A>G	uc002bel.2	+	c.799A>G	c.(799-801)ATG>GTG	p.M267V	MORF4L1_uc002bem.2_Missense_Mutation_p.M228V|MORF4L1_uc010une.1_Missense_Mutation_p.M140V	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	267	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0														0.381295	176.647472	178.363401	53	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79186452	79186452	10097	15	A	G	G	G	52	4	MORF4L1	4	4
CRTC3	64784	broad.mit.edu	37	15	91172586	91172586	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91172586C>T	uc002bpp.2	+	c.1088C>T	c.(1087-1089)TCG>TTG	p.S363L	CRTC3_uc002bpo.2_Missense_Mutation_p.S363L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	363					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)											0.186275	198.776448	245.876021	95	415	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91172586	91172586	4040	15	C	T	T	T	403	31	CRTC3	1	1
IGF1R	3480	broad.mit.edu	37	15	99478247	99478247	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:99478247G>T	uc002bul.2	+	c.3151G>T	c.(3151-3153)GCT>TCT	p.A1051S	IGF1R_uc010bon.2_Missense_Mutation_p.A1050S|IGF1R_uc010boo.1_Intron	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1051	Protein kinase.|Cytoplasmic (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	integral to plasma membrane|microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)					471				0.179104	21.218435	27.780588	12	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99478247	99478247	7872	15	G	T	T	T	442	34	IGF1R	2	2
C16orf91	283951	broad.mit.edu	37	16	1470042	1470042	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1470042C>G	uc010uvd.1	-	c.973G>C	c.(973-975)GAT>CAT	p.D325H	C16orf91_uc002clr.2_3'UTR	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	hypothetical protein LOC283951	Error:Variant_position_missing_in_Q4G0I0_after_alignment						integral to membrane					0														0.100917	15.045406	32.36697	11	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1470042	1470042	1897	16	C	G	G	G	377	29	C16orf91	3	3
PRKCB	5579	broad.mit.edu	37	16	23847552	23847552	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23847552G>T	uc002dme.2	+	c.56G>T	c.(55-57)CGC>CTC	p.R19L	PRKCB_uc002dmd.2_Missense_Mutation_p.R19L	NM_002738	NP_002729	P05771	KPCB_HUMAN	protein kinase C, beta isoform 2	19					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)					395				0.3125	43.411371	44.911517	15	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23847552	23847552	12951	16	G	T	T	T	494	38	PRKCB	1	1
GLIS2	84662	broad.mit.edu	37	16	4382451	4382451	+	Nonsense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4382451C>G	uc002cwc.1	+	c.170C>G	c.(169-171)TCA>TGA	p.S57*		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	57	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of sequence-specific DNA binding transcription factor activity|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	promoter binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription activator activity|zinc ion binding				0														0.085714	2.906905	8.986588	3	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	4382451	4382451	6714	16	C	G	G	G	377	29	GLIS2	5	3
PLEKHG4	25894	broad.mit.edu	37	16	67314355	67314355	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67314355G>A	uc002eso.3	+	c.408G>A	c.(406-408)GCG>GCA	p.A136A	PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Silent_p.A136A|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc010cef.2_Silent_p.A136A|PLEKHG4_uc002ess.3_Silent_p.A136A|PLEKHG4_uc010ceg.2_Intron	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	136					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)										0.05	-21.67545	16.99467	9	171	KEEP	---	---	---	---	capture		Silent	SNP	67314355	67314355	12497	16	G	A	A	A	470	37	PLEKHG4	1	1
WDR90	197335	broad.mit.edu	37	16	708613	708613	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:708613A>G	uc002cii.1	+	c.2855A>G	c.(2854-2856)AAG>AGG	p.K952R	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.K479R|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Missense_Mutation_p.K126R|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	952	WD 10.									ovary(1)	1		Hepatocellular(780;0.0218)												0.402985	89.611711	90.162766	27	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	708613	708613	17911	16	A	G	G	G	39	3	WDR90	4	4
PMFBP1	83449	broad.mit.edu	37	16	72158704	72158704	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72158704C>A	uc002fcc.3	-	c.2566G>T	c.(2566-2568)GCC>TCC	p.A856S	PMFBP1_uc002fcd.2_Missense_Mutation_p.A851S|PMFBP1_uc002fce.2_Non-coding_Transcript|PMFBP1_uc002fcf.2_Missense_Mutation_p.A706S|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147S	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	856	Potential.									ovary(1)	1		Ovarian(137;0.179)										OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.315789	185.858463	192.721868	72	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72158704	72158704	12560	16	C	A	A	A	338	26	PMFBP1	2	2
WWOX	51741	broad.mit.edu	37	16	78458910	78458910	+	Nonsense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:78458910C>G	uc002ffk.2	+	c.749C>G	c.(748-750)TCA>TGA	p.S250*	WWOX_uc010vnk.1_Nonsense_Mutation_p.S137*|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	250	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|oxidation-reduction process|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)										0.075314	5.344618	49.569621	18	221	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	78458910	78458910	17988	16	C	G	G	G	377	29	WWOX	5	3
MYH8	4626	broad.mit.edu	37	17	10298621	10298621	+	Silent	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10298621C>A	uc002gmm.2	-	c.4791G>T	c.(4789-4791)GTG>GTT	p.V1597V		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1597	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.150794	32.334946	47.064592	19	107	KEEP	---	---	---	---	capture		Silent	SNP	10298621	10298621	10436	17	C	A	A	A	262	21	MYH8	2	2
DNAH9	1770	broad.mit.edu	37	17	11597208	11597208	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11597208C>T	uc002gne.2	+	c.4638C>T	c.(4636-4638)ATC>ATT	p.I1546I	DNAH9_uc010coo.2_Silent_p.I840I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1546	Stem (By similarity).				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)										0.196581	49.656509	59.695981	23	94	KEEP	---	---	---	---	capture		Silent	SNP	11597208	11597208	4791	17	C	T	T	T	395	31	DNAH9	1	1
OR1A1	8383	broad.mit.edu	37	17	3119530	3119530	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3119530T>G	uc010vrc.1	+	c.616T>G	c.(616-618)TTC>GTC	p.F206V		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.251101	179.042194	191.843423	57	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3119530	3119530	11355	17	T	G	G	G	832	64	OR1A1	4	4
NLE1	54475	broad.mit.edu	37	17	33462471	33462471	+	Splice_Site_SNP	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33462471C>G	uc002hiy.1	-	c.1012_splice	c.e10-1	p.G338_splice	NLE1_uc010ctn.1_Splice_Site_SNP_p.G46_splice|NLE1_uc002hiz.1_Splice_Site_SNP_p.G46_splice	NM_018096	NP_060566			Notchless gene homolog isoform a							nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)												0.325	42.561565	43.648369	13	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	33462471	33462471	10863	17	C	G	G	G	312	24	NLE1	5	3
PLXDC1	57125	broad.mit.edu	37	17	37239790	37239790	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37239790C>G	uc002hrg.2	-	c.911G>C	c.(910-912)TGC>TCC	p.C304S	PLXDC1_uc010cvr.1_Missense_Mutation_p.C12S|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Intron	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	304	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)	2														0.380952	28.395658	28.656519	8	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37239790	37239790	12543	17	C	G	G	G	325	25	PLXDC1	3	3
KRT26	353288	broad.mit.edu	37	17	38926018	38926018	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38926018G>A	uc002hvf.2	-	c.957C>T	c.(955-957)TCC>TCT	p.S319S		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	keratin 26	319	Rod.|Coil 2.					intermediate filament	structural molecule activity				0		Breast(137;0.00526)												0.053435	-12.241769	15.287026	7	124	KEEP	---	---	---	---	capture		Silent	SNP	38926018	38926018	8778	17	G	A	A	A	548	43	KRT26	2	2
VMO1	284013	broad.mit.edu	37	17	4689248	4689248	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4689248C>G	uc002fyx.2	-	c.295G>C	c.(295-297)GAG>CAG	p.E99Q	VMO1_uc010vsh.1_Intron|VMO1_uc010vsi.1_Missense_Mutation_p.E99Q|VMO1_uc002fyy.2_Intron	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 isoform 1	99					vitelline membrane formation	extracellular region				ovary(1)	1														0.095028	96.445165	245.471873	86	819	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4689248	4689248	17744	17	C	G	G	G	416	32	VMO1	3	3
ABCA8	10351	broad.mit.edu	37	17	66883575	66883575	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66883575C>T	uc002jhq.2	-	c.3217G>A	c.(3217-3219)GAT>AAT	p.D1073N	ABCA8_uc002jhp.2_Missense_Mutation_p.D1033N|ABCA8_uc010wqq.1_Missense_Mutation_p.D1073N|ABCA8_uc010wqr.1_Missense_Mutation_p.D1012N	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1033	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.045455	-33.383769	20.080779	11	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66883575	66883575	39	17	C	T	T	T	390	30	ABCA8	2	2
ST6GALNAC2	10610	broad.mit.edu	37	17	74570505	74570505	+	Silent	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74570505G>C	uc002jsg.3	-	c.303C>G	c.(301-303)CTC>CTG	p.L101L		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	sialyltransferase 7B	101	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity				0														0.207792	43.754863	49.847487	16	61	KEEP	---	---	---	---	capture		Silent	SNP	74570505	74570505	15742	17	G	C	C	C	418	33	ST6GALNAC2	3	3
DNAH2	146754	broad.mit.edu	37	17	7636522	7636522	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7636522C>T	uc002giu.1	+	c.517C>T	c.(517-519)CGG>TGG	p.R173W	DNAH2_uc002git.2_Missense_Mutation_p.R173W|DNAH2_uc010vuk.1_Missense_Mutation_p.R173W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	173	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.208955	62.423609	72.934883	28	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7636522	7636522	4785	17	C	T	T	T	399	31	DNAH2	1	1
DNAH2	146754	broad.mit.edu	37	17	7640477	7640477	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7640477C>T	uc002giu.1	+	c.1071C>T	c.(1069-1071)ATC>ATT	p.I357I	DNAH2_uc002git.2_Silent_p.I357I|DNAH2_uc010vuk.1_Silent_p.I357I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	357	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.148148	28.923304	41.762628	16	92	KEEP	---	---	---	---	capture		Silent	SNP	7640477	7640477	4785	17	C	T	T	T	408	32	DNAH2	2	2
DNAH2	146754	broad.mit.edu	37	17	7644211	7644211	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7644211G>A	uc002giu.1	+	c.1590G>A	c.(1588-1590)CGG>CGA	p.R530R	DNAH2_uc002git.2_Silent_p.R612R|DNAH2_uc010vuk.1_Silent_p.R530R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	530	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.137097	25.885603	41.695256	17	107	KEEP	---	---	---	---	capture		Silent	SNP	7644211	7644211	4785	17	G	A	A	A	522	41	DNAH2	2	2
DNAH2	146754	broad.mit.edu	37	17	7646444	7646444	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7646444G>C	uc002giu.1	+	c.1888G>C	c.(1888-1890)GAT>CAT	p.D630H	DNAH2_uc002git.2_Missense_Mutation_p.D712H|DNAH2_uc010vuk.1_Missense_Mutation_p.D630H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	630	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.126984	17.755464	26.304054	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7646444	7646444	4785	17	G	C	C	C	533	41	DNAH2	3	3
ENGASE	64772	broad.mit.edu	37	17	77073539	77073539	+	Silent	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77073539C>G	uc002jwv.2	+	c.174C>G	c.(172-174)GTC>GTG	p.V58V	ENGASE_uc002jwu.1_Silent_p.V58V|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	58						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity				0														0.1875	49.690228	58.469575	18	78	KEEP	---	---	---	---	capture		Silent	SNP	77073539	77073539	5311	17	C	G	G	G	405	32	ENGASE	3	3
DHRS7C	201140	broad.mit.edu	37	17	9684874	9684874	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9684874C>T	uc010vvb.1	-	c.192G>A	c.(190-192)CTG>CTA	p.L64L	DHRS7C_uc010cof.2_Silent_p.L64L	NM_001105571	NP_001099041			dehydrogenase/reductase (SDR family) member 7C												0														0.264706	24.258058	25.960503	9	25	KEEP	---	---	---	---	capture		Silent	SNP	9684874	9684874	4676	17	C	T	T	T	262	21	DHRS7C	2	2
CEP192	55125	broad.mit.edu	37	18	13049425	13049425	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13049425G>A	uc010xac.1	+	c.2635G>A	c.(2635-2637)GTG>ATG	p.V879M	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.1_Missense_Mutation_p.V404M|CEP192_uc002kru.2_Non-coding_Transcript|CEP192_uc002krs.1_Missense_Mutation_p.V620M	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	879										ovary(4)|pancreas(1)	5														0.268519	71.721122	76.948846	29	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13049425	13049425	3384	18	G	A	A	A	624	48	CEP192	2	2
KIAA1012	22878	broad.mit.edu	37	18	29437671	29437671	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29437671C>G	uc002kxc.3	-	c.3020G>C	c.(3019-3021)GGC>GCC	p.G1007A	KIAA1012_uc002kxb.3_Missense_Mutation_p.G953A|KIAA1012_uc002kxd.3_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	1007					ER to Golgi vesicle-mediated transport	cis-Golgi network					0														0.284314	93.433192	97.692391	29	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29437671	29437671	8511	18	C	G	G	G	338	26	KIAA1012	3	3
ST8SIA5	29906	broad.mit.edu	37	18	44268875	44268875	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44268875G>C	uc010xcy.1	-	c.427C>G	c.(427-429)CTG>GTG	p.L143V	ST8SIA5_uc002lci.1_Intron|ST8SIA5_uc002lcj.1_Missense_Mutation_p.L107V|ST8SIA5_uc010xcz.1_Missense_Mutation_p.L76V	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	107	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				ovary(1)|pancreas(1)	2														0.322034	64.603647	66.263402	19	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44268875	44268875	15753	18	G	C	C	C	425	33	ST8SIA5	3	3
RTTN	25914	broad.mit.edu	37	18	67697257	67697257	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67697257C>T	uc002lkp.2	-	c.5736G>A	c.(5734-5736)TTG>TTA	p.L1912L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.L1000L|RTTN_uc010dqp.2_Silent_p.L164L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1912							binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Esophageal squamous(42;0.129)												0.076923	-1.856322	21.968522	10	120	KEEP	---	---	---	---	capture		Silent	SNP	67697257	67697257	14217	18	C	T	T	T	376	29	RTTN	2	2
CNDP1	84735	broad.mit.edu	37	18	72238504	72238504	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72238504C>T	uc002llq.2	+	c.840C>T	c.(838-840)CTC>CTT	p.L280L	CNDP1_uc002lls.2_Silent_p.L83L	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	280					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		Melanoma(32;1029 1042 25286 38395 44237)								0.090164	5.933974	26.604561	11	111	KEEP	---	---	---	---	capture		Silent	SNP	72238504	72238504	3731	18	C	T	T	T	392	31	CNDP1	1	1
KEAP1	9817	broad.mit.edu	37	19	10602840	10602840	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10602840G>C	uc002moq.1	-	c.738C>G	c.(736-738)TTC>TTG	p.F246L	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.F246L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	246	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.382353	88.134908	88.960019	26	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10602840	10602840	8447	19	G	C	C	C	529	41	KEAP1	3	3
CARM1	10498	broad.mit.edu	37	19	11022908	11022908	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11022908G>C	uc002mpz.2	+	c.607G>C	c.(607-609)GCC>CCC	p.A203P	CARM1_uc010dxn.2_Non-coding_Transcript|CARM1_uc002mqa.2_5'UTR	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	203					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|promoter binding|protein-arginine omega-N asymmetric methyltransferase activity				0														0.421446	585.061006	587.205023	169	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11022908	11022908	2774	19	G	C	C	C	494	38	CARM1	3	3
CC2D1A	54862	broad.mit.edu	37	19	14024056	14024056	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14024056G>A	uc002mxo.2	+	c.454G>A	c.(454-456)GAA>AAA	p.E152K	CC2D1A_uc002mxn.2_Missense_Mutation_p.E51K|CC2D1A_uc002mxp.2_Missense_Mutation_p.E152K|CC2D1A_uc010dzh.2_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	152					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)											0.103448	2.102748	6.644867	3	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14024056	14024056	2846	19	G	A	A	A	585	45	CC2D1A	2	2
GPI	2821	broad.mit.edu	37	19	34868423	34868423	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:34868423G>T	uc002nvf.2	+	c.535G>T	c.(535-537)GAC>TAC	p.D179Y	GPI_uc010xrv.1_Intron|GPI_uc002nvg.1_Missense_Mutation_p.D140Y|GPI_uc010xrw.1_Intron|GPI_uc010edl.1_Missense_Mutation_p.D140Y	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	140					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)													0.230769	75.995276	85.499126	33	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34868423	34868423	6885	19	G	T	T	T	585	45	GPI	2	2
GPI	2821	broad.mit.edu	37	19	34868425	34868425	+	Silent	SNP	C	T	T	rs11548997		TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:34868425C>T	uc002nvf.2	+	c.537C>T	c.(535-537)GAC>GAT	p.D179D	GPI_uc010xrv.1_Intron|GPI_uc002nvg.1_Silent_p.D140D|GPI_uc010xrw.1_Intron|GPI_uc010edl.1_Silent_p.D140D	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	140					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)													0.219178	74.621343	85.229068	32	114	KEEP	---	---	---	---	capture		Silent	SNP	34868425	34868425	6885	19	C	T	T	T	259	20	GPI	2	2
KCNK6	9424	broad.mit.edu	37	19	38817502	38817502	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38817502G>A	uc002oic.2	+	c.592G>A	c.(592-594)GCC>ACC	p.A198T	KCNK6_uc002oid.2_Missense_Mutation_p.A64T	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	198						voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)	1	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)									0.165888	117.221835	162.51982	71	357	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38817502	38817502	8375	19	G	A	A	A	546	42	KCNK6	2	2
RYR1	6261	broad.mit.edu	37	19	39023335	39023335	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39023335G>A	uc002oit.2	+	c.11218G>A	c.(11218-11220)GAG>AAG	p.E3740K	RYR1_uc002oiu.2_Missense_Mutation_p.E3735K|RYR1_uc002oiv.1_Missense_Mutation_p.E655K|RYR1_uc010xuf.1_Missense_Mutation_p.E660K	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3740					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.33871	114.605835	117.461018	42	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39023335	39023335	14248	19	G	A	A	A	533	41	RYR1	2	2
FAM83E	54854	broad.mit.edu	37	19	49116501	49116501	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49116501C>T	uc002pjn.2	-	c.129G>A	c.(127-129)GCG>GCA	p.A43A		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	43										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)										0.125	6.449475	11.94327	5	35	KEEP	---	---	---	---	capture		Silent	SNP	49116501	49116501	5863	19	C	T	T	T	288	23	FAM83E	1	1
NTF4	4909	broad.mit.edu	37	19	49564715	49564715	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49564715C>G	uc002pmf.3	-	c.540G>C	c.(538-540)TTG>TTC	p.L180F	CGB7_uc010yah.1_Intron	NM_006179	NP_006170	P34130	NTF4_HUMAN	neurotrophin 5 preproprotein	180					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity				0		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)										0.052083	-6.307627	14.05656	5	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49564715	49564715	11102	19	C	G	G	G	376	29	NTF4	3	3
LENG1	79165	broad.mit.edu	37	19	54663367	54663367	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54663367C>T	uc002qdm.2	-	c.67G>A	c.(67-69)GAC>AAC	p.D23N		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	23	Potential.									ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)													0.375	17.445448	17.665163	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54663367	54663367	9047	19	C	T	T	T	377	29	LENG1	2	2
ZNF544	27300	broad.mit.edu	37	19	58773673	58773673	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58773673G>C	uc010euo.2	+	c.1701G>C	c.(1699-1701)CAG>CAC	p.Q567H	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.Q539H|ZNF544_uc010yhy.1_Missense_Mutation_p.Q539H|ZNF544_uc002qrt.3_Missense_Mutation_p.Q425H|ZNF544_uc002qru.3_Missense_Mutation_p.Q425H	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	zinc finger protein 544	567	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)										0.045802	-13.168368	15.685419	6	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58773673	58773673	18572	19	G	C	C	C	425	33	ZNF544	3	3
ZNF324	25799	broad.mit.edu	37	19	58983439	58983439	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58983439C>T	uc002qsw.1	+	c.1580C>T	c.(1579-1581)TCA>TTA	p.S527L	ZNF324_uc002qsx.1_Missense_Mutation_p.S304L	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)										0.108696	4.554956	11.522343	5	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58983439	58983439	18436	19	C	T	T	T	377	29	ZNF324	2	2
ZNF559	84527	broad.mit.edu	37	19	9452759	9452759	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9452759G>C	uc002mle.3	+	c.824G>C	c.(823-825)AGA>ACA	p.R275T	ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Missense_Mutation_p.R203T|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF559_uc002mlg.2_Missense_Mutation_p.R211T|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.481481	147.223419	147.247557	39	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9452759	9452759	18585	19	G	C	C	C	429	33	ZNF559	3	3
SLC6A17	388662	broad.mit.edu	37	1	110735252	110735252	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110735252A>G	uc009wfq.2	+	c.1231A>G	c.(1231-1233)ACC>GCC	p.T411A	SLC6A17_uc001dze.1_Missense_Mutation_p.T9A	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	411	Extracellular (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)										0.211268	40.483988	45.961082	15	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110735252	110735252	15177	1	A	G	G	G	130	10	SLC6A17	4	4
HIST2H2AC	8338	broad.mit.edu	37	1	149858806	149858806	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149858806G>A	uc001etd.2	+	c.282G>A	c.(280-282)CTG>CTA	p.L94L	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	94					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)											0.082927	-0.978789	35.281541	17	188	KEEP	---	---	---	---	capture		Silent	SNP	149858806	149858806	7465	1	G	A	A	A	574	45	HIST2H2AC	2	2
SV2A	9900	broad.mit.edu	37	1	149885007	149885007	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149885007C>A	uc001etg.2	-	c.386G>T	c.(385-387)GGG>GTG	p.G129V	SV2A_uc001eth.2_Missense_Mutation_p.G129V	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	129	Cytoplasmic (Potential).				neurotransmitter transport|transmembrane transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)									0.10084	14.824698	52.686246	24	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149885007	149885007	15937	1	C	A	A	A	286	22	SV2A	2	2
TARS2	80222	broad.mit.edu	37	1	150464139	150464139	+	Splice_Site_SNP	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150464139G>A	uc001euq.2	+	c.695_splice	c.e6+1	p.G232_splice	TARS2_uc010pcd.1_Splice_Site_SNP|TARS2_uc001eur.2_Splice_Site_SNP_p.G232_splice|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Intron	NM_025150	NP_079426			threonyl-tRNA synthetase 2, mitochondrial						threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)									0.177083	99.348176	127.643565	51	237	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	150464139	150464139	16082	1	G	A	A	A	572	44	TARS2	5	2
S100A13	6284	broad.mit.edu	37	1	153598847	153598847	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153598847G>A	uc001fcf.3	-	c.102C>T	c.(100-102)AGC>AGT	p.S34S	S100A13_uc001fcg.2_Silent_p.S34S|S100A13_uc009woh.2_Silent_p.S34S|S100A13_uc001fch.2_Silent_p.S34S|S100A13_uc001fci.2_Silent_p.S34S|S100A13_uc001fcj.2_Silent_p.S34S|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank	NM_001024213	NP_001019384	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	34	1.|EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	NSCLC(156;1296 1989 17590 30930 49554)								0.089219	8.666875	100.306268	48	490	KEEP	---	---	---	---	capture		Silent	SNP	153598847	153598847	14255	1	G	A	A	A	490	38	S100A13	1	1
IL6R	3570	broad.mit.edu	37	1	154422396	154422396	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154422396A>T	uc001fez.1	+	c.1006A>T	c.(1006-1008)ACT>TCT	p.T336S	IL6R_uc001ffa.1_Missense_Mutation_p.T336S	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	336	Extracellular (Potential).				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|monocyte chemotaxis|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|neutrophil mediated immunity|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.132743	41.098253	70.702686	30	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154422396	154422396	8003	1	A	T	T	T	182	14	IL6R	3	3
FCRL5	83416	broad.mit.edu	37	1	157509129	157509129	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157509129G>T	uc001fqu.2	-	c.1149C>A	c.(1147-1149)AAC>AAA	p.N383K	FCRL5_uc009wsm.2_Missense_Mutation_p.N383K|FCRL5_uc010phv.1_Missense_Mutation_p.N383K|FCRL5_uc010phw.1_Missense_Mutation_p.N298K|FCRL5_uc001fqv.1_Missense_Mutation_p.N383K|FCRL5_uc010phx.1_Missense_Mutation_p.N134K	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	383	Extracellular (Potential).|Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.146067	23.317805	34.034173	13	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157509129	157509129	6035	1	G	T	T	T	568	44	FCRL5	2	2
SPTA1	6708	broad.mit.edu	37	1	158584068	158584068	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158584068G>A	uc001fst.1	-	c.6817C>T	c.(6817-6819)CTA>TTA	p.L2273L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2273	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.152941	26.227057	36.015236	13	72	KEEP	---	---	---	---	capture		Silent	SNP	158584068	158584068	15630	1	G	A	A	A	425	33	SPTA1	2	2
TNR	7143	broad.mit.edu	37	1	175360440	175360440	+	Silent	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175360440C>A	uc001gkp.1	-	c.1491G>T	c.(1489-1491)TCG>TCT	p.S497S	TNR_uc009wwu.1_Silent_p.S497S	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	497	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.371901	133.144504	134.888491	45	76	KEEP	---	---	---	---	capture		Silent	SNP	175360440	175360440	16879	1	C	A	A	A	288	23	TNR	1	1
GLT25D2	23127	broad.mit.edu	37	1	183908081	183908081	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183908081C>A	uc001gqr.2	-	c.1695G>T	c.(1693-1695)CAG>CAT	p.Q565H	GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Missense_Mutation_p.Q173H|GLT25D2_uc001gqq.2_Missense_Mutation_p.Q302H|GLT25D2_uc001gqs.2_Missense_Mutation_p.Q445H	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	565					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						Esophageal Squamous(10;42 606 18489 38825)								0.269841	128.366148	137.384292	51	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183908081	183908081	6735	1	C	A	A	A	363	28	GLT25D2	2	2
TMCO4	255104	broad.mit.edu	37	1	20073736	20073736	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20073736C>T	uc001bcn.2	-	c.533G>A	c.(532-534)CGA>CAA	p.R178Q	TMCO4_uc001bcm.2_Missense_Mutation_p.R178Q|TMCO4_uc001bco.1_Missense_Mutation_p.R178Q|TMCO4_uc001bcp.1_Missense_Mutation_p.R178Q|TMCO4_uc009vpn.1_Missense_Mutation_p.R178Q|TMCO4_uc001bcq.1_Missense_Mutation_p.R178Q	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	178	Potential.					integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)										0.07874	-4.645159	64.499374	30	351	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20073736	20073736	16528	1	C	T	T	T	403	31	TMCO4	1	1
PLEKHA6	22874	broad.mit.edu	37	1	204228701	204228702	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204228701_204228702TC>AA	uc001hau.2	-	c.691_692GA>TT	c.(691-693)GAG>TTG	p.E231L	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	231	Pro-rich.									ovary(2)|pancreas(1)	3	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)											0.161765	39.865485	54.671472	22	114	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	204228701	204228702	12486	1	TC	AA	AA	AA	702	54	PLEKHA6	3	3
NUCKS1	64710	broad.mit.edu	37	1	205689671	205689671	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205689671C>T	uc001hdb.2	-	c.340G>A	c.(340-342)GAG>AAG	p.E114K		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent	114						nucleus					0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)											0.079755	-2.665824	26.726009	13	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205689671	205689671	11125	1	C	T	T	T	377	29	NUCKS1	2	2
RAB7L1	8934	broad.mit.edu	37	1	205740776	205740776	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205740776C>G	uc001hdf.3	-	c.202G>C	c.(202-204)GAG>CAG	p.E68Q	RAB7L1_uc009xbp.2_5'UTR|RAB7L1_uc001hde.3_Missense_Mutation_p.E68Q|RAB7L1_uc010prr.1_Missense_Mutation_p.E44Q|RAB7L1_uc009xbq.2_Intron	NM_003929	NP_003920	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1 isoform	68					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			Pancreas(25;658 872 27763 34889 38531)								0.251397	135.660569	145.663724	45	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205740776	205740776	13414	1	C	G	G	G	390	30	RAB7L1	3	3
USH2A	7399	broad.mit.edu	37	1	215848937	215848937	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215848937C>T	uc001hku.1	-	c.12316G>A	c.(12316-12318)GGG>AGG	p.G4106R		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4106	Fibronectin type-III 26.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.111111	11.415568	23.526021	9	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215848937	215848937	17598	1	C	T	T	T	299	23	USH2A	1	1
CDC42BPA	8476	broad.mit.edu	37	1	227441855	227441855	+	Silent	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:227441855A>G	uc001hqr.2	-	c.180T>C	c.(178-180)GCT>GCC	p.A60A	CDC42BPA_uc001hqs.2_Silent_p.A60A|CDC42BPA_uc009xes.2_Silent_p.A60A|CDC42BPA_uc010pvs.1_Silent_p.A60A	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	60					actin cytoskeleton reorganization|intracellular signal transduction|protein phosphorylation	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|ovary(1)|pancreas(1)	10		all_cancers(173;0.156)|Prostate(94;0.0792)								1574				0.114754	11.479382	20.402724	7	54	KEEP	---	---	---	---	capture		Silent	SNP	227441855	227441855	3200	1	A	G	G	G	184	15	CDC42BPA	4	4
KIAA1804	84451	broad.mit.edu	37	1	233514864	233514864	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:233514864G>T	uc001hvt.3	+	c.2112G>T	c.(2110-2112)ATG>ATT	p.M704I	KIAA1804_uc001hvu.3_Missense_Mutation_p.M150I	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	704					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)	7		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)								196				0.173913	30.238655	39.476903	16	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233514864	233514864	8570	1	G	T	T	T	585	45	KIAA1804	2	2
RYR2	6262	broad.mit.edu	37	1	237774276	237774276	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237774276C>A	uc001hyl.1	+	c.4898C>A	c.(4897-4899)CCT>CAT	p.P1633H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1633	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)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.4	56.58707	57.025121	20	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237774276	237774276	14249	1	C	A	A	A	312	24	RYR2	2	2
ZNF669	79862	broad.mit.edu	37	1	247265290	247265290	+	Silent	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247265290T>C	uc001ice.2	-	c.387A>G	c.(385-387)GTA>GTG	p.V129V	ZNF669_uc001icf.2_Silent_p.V43V	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	129	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)											0.488189	221.047152	221.062423	62	65	KEEP	---	---	---	---	capture		Silent	SNP	247265290	247265290	18671	1	T	C	C	C	678	53	ZNF669	4	4
OR2C3	81472	broad.mit.edu	37	1	247695011	247695011	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247695011G>C	uc009xgy.2	-	c.803C>G	c.(802-804)TCC>TGC	p.S268C	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	268	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)											0.061404	-5.939441	16.919362	7	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247695011	247695011	11399	1	G	C	C	C	533	41	OR2C3	3	3
SNRNP40	9410	broad.mit.edu	37	1	31769485	31769485	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:31769485C>A	uc010oge.1	-	c.114G>T	c.(112-114)CAG>CAT	p.Q38H	SNRNP40_uc001bso.2_Missense_Mutation_p.Q38H|ZCCHC17_uc001bsp.1_5'Flank|ZCCHC17_uc001bsq.1_5'Flank|ZCCHC17_uc010ogf.1_5'Flank|ZCCHC17_uc009vtu.1_5'Flank|ZCCHC17_uc001bsr.1_5'Flank|ZCCHC17_uc009vtv.1_5'Flank	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	WD repeat domain 57 (U5 snRNP specific)	38					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding				0														0.39823	126.543221	127.569129	45	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31769485	31769485	15356	1	C	A	A	A	311	24	SNRNP40	2	2
LRRC47	57470	broad.mit.edu	37	1	3699302	3699302	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3699302C>A	uc001akx.1	-	c.1336G>T	c.(1336-1338)GAA>TAA	p.E446*		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	446					translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)										0.065934	-4.925227	12.865669	6	85	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3699302	3699302	9379	1	C	A	A	A	377	29	LRRC47	5	2
LRRC7	57554	broad.mit.edu	37	1	70541760	70541760	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70541760G>T	uc001dep.2	+	c.4117G>T	c.(4117-4119)GCA>TCA	p.A1373S	LRRC7_uc009wbg.2_Missense_Mutation_p.A657S|LRRC7_uc001deq.2_Missense_Mutation_p.A567S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1373						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.404255	53.716876	54.093015	19	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70541760	70541760	9396	1	G	T	T	T	546	42	LRRC7	2	2
USP33	23032	broad.mit.edu	37	1	78194222	78194222	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78194222C>A	uc001dht.2	-	c.986G>T	c.(985-987)AGA>ATA	p.R329I	USP33_uc001dhs.2_Missense_Mutation_p.R50I|USP33_uc001dhu.2_Missense_Mutation_p.R298I|USP33_uc001dhv.2_Missense_Mutation_p.R134I|USP33_uc001dhw.2_Missense_Mutation_p.R329I	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	329					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1						Melanoma(152;72 1870 11110 26780 42647)								0.339623	92.97386	95.381036	36	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78194222	78194222	17628	1	C	A	A	A	416	32	USP33	2	2
LPHN2	23266	broad.mit.edu	37	1	82409320	82409320	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:82409320T>G	uc001dit.3	+	c.1065T>G	c.(1063-1065)GAT>GAG	p.D355E	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.D355E|LPHN2_uc001div.2_Missense_Mutation_p.D355E|LPHN2_uc009wcd.2_Missense_Mutation_p.D355E	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	355	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)										0.169118	56.149029	70.235449	23	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82409320	82409320	9289	1	T	G	G	G	660	51	LPHN2	4	4
SPTLC3	55304	broad.mit.edu	37	20	13053003	13053003	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:13053003G>T	uc002wod.1	+	c.403G>T	c.(403-405)GGG>TGG	p.G135W		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	135					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)									0.152688	121.996237	175.697944	71	394	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13053003	13053003	15639	20	G	T	T	T	455	35	SPTLC3	2	2
PXMP4	11264	broad.mit.edu	37	20	32302524	32302525	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:32302524_32302525CC>AA	uc002wzv.2	-	c.131_132GG>TT	c.(130-132)CGG>CTT	p.R44L	PXMP4_uc002wzw.2_Missense_Mutation_p.R44L|PXMP4_uc010zuh.1_Missense_Mutation_p.R44L	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	44						integral to membrane|membrane fraction|peroxisomal membrane					0														0.333333	226.744826	232.636648	80	160	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	32302524	32302525	13309	20	CC	AA	AA	AA	275	22	PXMP4	2	2
KIAA0406	9675	broad.mit.edu	37	20	36641892	36641892	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36641892G>A	uc002xhl.2	-	c.327C>T	c.(325-327)TCC>TCT	p.S109S	KIAA0406_uc002xhm.2_Silent_p.S109S	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	109							binding				0		Myeloproliferative disorder(115;0.00874)												0.329193	152.611597	156.780166	53	108	KEEP	---	---	---	---	capture		Silent	SNP	36641892	36641892	8480	20	G	A	A	A	548	43	KIAA0406	2	2
HSPA12B	116835	broad.mit.edu	37	20	3726567	3726567	+	Silent	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3726567G>T	uc002wjd.2	+	c.564G>T	c.(562-564)CTG>CTT	p.L188L	HSPA12B_uc010zqi.1_Silent_p.L187L|HSPA12B_uc002wje.2_Silent_p.L101L|HSPA12B_uc010zqj.1_Silent_p.L22L	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	188							ATP binding				0														0.057325	-15.865393	16.443654	9	148	KEEP	---	---	---	---	capture		Silent	SNP	3726567	3726567	7704	20	G	T	T	T	574	45	HSPA12B	2	2
MAVS	57506	broad.mit.edu	37	20	3845224	3845224	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3845224C>T	uc002wjw.3	+	c.947C>T	c.(946-948)CCA>CTA	p.P316L	MAVS_uc002wjx.3_Missense_Mutation_p.P175L|MAVS_uc002wjy.3_Missense_Mutation_p.P14L	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	316	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0														0.125984	18.008226	35.360377	16	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3845224	3845224	9722	20	C	T	T	T	273	21	MAVS	2	2
SULF2	55959	broad.mit.edu	37	20	46319006	46319006	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:46319006C>T	uc002xto.2	-	c.601G>A	c.(601-603)GTG>ATG	p.V201M	SULF2_uc002xtr.2_Missense_Mutation_p.V201M|SULF2_uc002xtq.2_Missense_Mutation_p.V201M|SULF2_uc010ghv.1_Missense_Mutation_p.V201M	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	201					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)	5										709				0.108434	7.669954	20.235592	9	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46319006	46319006	15891	20	C	T	T	T	247	19	SULF2	1	1
SPATA2	9825	broad.mit.edu	37	20	48523254	48523254	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:48523254C>T	uc010gie.2	-	c.465G>A	c.(463-465)GAG>GAA	p.E155E	SPATA2_uc002xuw.2_Silent_p.E155E|SPATA2_uc010zyn.1_Silent_p.E18E	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	155					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)	1	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)											0.308824	58.847646	61.063538	21	47	KEEP	---	---	---	---	capture		Silent	SNP	48523254	48523254	15513	20	C	T	T	T	415	32	SPATA2	2	2
TPTE	7179	broad.mit.edu	37	21	10951323	10951323	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10951323G>A	uc002yip.1	-	c.389C>T	c.(388-390)TCT>TTT	p.S130F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.S112F|TPTE_uc002yir.1_Missense_Mutation_p.S92F|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	130	Helical; (Potential).				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.201754	56.155535	65.580774	23	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10951323	10951323	16974	21	G	A	A	A	429	33	TPTE	2	2
TMPRSS15	5651	broad.mit.edu	37	21	19737487	19737487	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:19737487T>A	uc002ykw.2	-	c.743A>T	c.(742-744)GAA>GTA	p.E248V		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	248	Extracellular (Potential).|CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|breast(1)	6														0.277778	74.402302	79.202458	30	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19737487	19737487	16787	21	T	A	A	A	806	62	TMPRSS15	3	3
KRTAP15-1	254950	broad.mit.edu	37	21	31812989	31812989	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31812989T>C	uc002yod.2	+	c.344T>C	c.(343-345)CTG>CCG	p.L115P		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	115						intermediate filament					0														0.241379	72.237825	79.327021	28	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31812989	31812989	8841	21	T	C	C	C	715	55	KRTAP15-1	4	4
SMTN	6525	broad.mit.edu	37	22	31486831	31486831	+	Silent	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31486831G>T	uc011ale.1	+	c.1065G>T	c.(1063-1065)TCG>TCT	p.S355S	SMTN_uc003ajk.1_Silent_p.S301S|SMTN_uc003ajl.1_Silent_p.S301S|SMTN_uc003ajm.1_Silent_p.S301S|SMTN_uc011alf.1_Silent_p.S357S|SMTN_uc003ajn.1_Silent_p.S293S|SMTN_uc011alg.1_5'Flank|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	301					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3														0.144509	36.069555	57.034568	25	148	KEEP	---	---	---	---	capture		Silent	SNP	31486831	31486831	15314	22	G	T	T	T	496	39	SMTN	1	1
LIMK2	3985	broad.mit.edu	37	22	31658126	31658126	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31658126C>G	uc003akj.2	+	c.495C>G	c.(493-495)AAC>AAG	p.N165K	LIMK2_uc003akg.2_Missense_Mutation_p.N103K|LIMK2_uc003akh.2_Missense_Mutation_p.N186K|LIMK2_uc003aki.2_Intron|LIMK2_uc003akk.2_Missense_Mutation_p.N165K|LIMK2_uc011aln.1_Missense_Mutation_p.N103K	NM_001031801	NP_001026971	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 1	186	PDZ.				protein phosphorylation	mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2										431				0.142857	60.197362	83.423033	27	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31658126	31658126	9128	22	C	G	G	G	233	18	LIMK2	3	3
LARGE	9215	broad.mit.edu	37	22	33700318	33700318	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:33700318C>T	uc003and.3	-	c.1627G>A	c.(1627-1629)GTG>ATG	p.V543M	LARGE_uc011amd.1_Missense_Mutation_p.V342M|LARGE_uc003ane.3_Missense_Mutation_p.V543M|LARGE_uc010gwp.2_Missense_Mutation_p.V491M|LARGE_uc011ame.1_Missense_Mutation_p.V475M|LARGE_uc011amf.1_Missense_Mutation_p.V543M	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	543	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2		Lung NSC(1;0.219)				Colon(70;397 1175 4573 19089 45288)								0.226667	77.982193	88.265701	34	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33700318	33700318	8950	22	C	T	T	T	247	19	LARGE	1	1
ISX	91464	broad.mit.edu	37	22	35463277	35463277	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:35463277G>T	uc003anj.2	+	c.197G>T	c.(196-198)GGG>GTG	p.G66V	ISX_uc011amg.1_Missense_Mutation_p.G54V	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	66					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(3)	3														0.333333	10.795463	11.090939	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35463277	35463277	8169	22	G	T	T	T	559	43	ISX	2	2
EFCAB6	64800	broad.mit.edu	37	22	43933318	43933318	+	Silent	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:43933318C>G	uc003bdy.1	-	c.3987G>C	c.(3985-3987)CTG>CTC	p.L1329L	EFCAB6_uc003bdz.1_Silent_p.L1177L|EFCAB6_uc010gzi.1_Silent_p.L1177L	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1329	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|pancreas(1)	4		Ovarian(80;0.0247)|all_neural(38;0.025)												0.050761	-16.624092	25.500982	10	187	KEEP	---	---	---	---	capture		Silent	SNP	43933318	43933318	5126	22	C	G	G	G	366	29	EFCAB6	3	3
PHF21B	112885	broad.mit.edu	37	22	45289361	45289361	+	Silent	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45289361G>T	uc003bfn.2	-	c.936C>A	c.(934-936)GCC>GCA	p.A312A	PHF21B_uc003bfm.2_Silent_p.A108A|PHF21B_uc011aqk.1_Silent_p.A258A|PHF21B_uc011aql.1_Silent_p.A270A|PHF21B_uc011aqm.1_Silent_p.A258A	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	312							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)										0.333333	8.421677	8.643244	3	6	KEEP	---	---	---	---	capture		Silent	SNP	45289361	45289361	12257	22	G	T	T	T	444	35	PHF21B	2	2
SLC20A1	6574	broad.mit.edu	37	2	113414815	113414815	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113414815G>A	uc002tib.2	+	c.775G>A	c.(775-777)GAA>AAA	p.E259K	SLC20A1_uc002tic.1_Missense_Mutation_p.E71K	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	259	Cytoplasmic (Potential).				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2														0.060241	-5.998794	10.784847	5	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113414815	113414815	14934	2	G	A	A	A	585	45	SLC20A1	2	2
TUBA3E	112714	broad.mit.edu	37	2	130951907	130951907	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130951907C>A	uc002tqv.2	-	c.508G>T	c.(508-510)GCC>TCC	p.A170S		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	170					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0	Colorectal(110;0.1)													0.161074	41.076237	57.413091	24	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130951907	130951907	17303	2	C	A	A	A	325	25	TUBA3E	2	2
TUBA3D	113457	broad.mit.edu	37	2	132237774	132237774	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132237774G>T	uc002tsu.3	+	c.508G>T	c.(508-510)GCC>TCC	p.A170S		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	170					'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)								0.037249	-58.386071	22.542681	13	336	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132237774	132237774	17302	2	G	T	T	T	598	46	TUBA3D	2	2
LRP1B	53353	broad.mit.edu	37	2	140992396	140992396	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:140992396T>C	uc002tvj.1	-	c.13618A>G	c.(13618-13620)ATC>GTC	p.I4540V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4540	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.333333	34.817657	35.62765	11	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140992396	140992396	9328	2	T	C	C	C	663	51	LRP1B	4	4
SLC4A10	57282	broad.mit.edu	37	2	162735721	162735721	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162735721T>A	uc002ubx.3	+	c.1029T>A	c.(1027-1029)GAT>GAA	p.D343E	SLC4A10_uc010fpa.1_Missense_Mutation_p.D355E|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc002uby.3_Missense_Mutation_p.D313E|SLC4A10_uc010zcs.1_Missense_Mutation_p.D324E	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	343	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.164557	25.428334	33.865423	13	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162735721	162735721	15148	2	T	A	A	A	647	50	SLC4A10	3	3
PXDN	7837	broad.mit.edu	37	2	1652006	1652006	+	Silent	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1652006T>A	uc002qxa.2	-	c.3546A>T	c.(3544-3546)GCA>GCT	p.A1182A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1182					extracellular matrix organization|hydrogen peroxide catabolic process|immune response|oxidation-reduction process	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)						2093				0.21978	85.017614	98.209024	40	142	KEEP	---	---	---	---	capture		Silent	SNP	1652006	1652006	13305	2	T	A	A	A	756	59	PXDN	3	3
TTN	7273	broad.mit.edu	37	2	179425729	179425729	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179425729A>G	uc010zfg.1	-	c.77426T>C	c.(77425-77427)ATA>ACA	p.I25809T	TTN_uc010zfh.1_Missense_Mutation_p.I19504T|TTN_uc010zfi.1_Missense_Mutation_p.I19437T|TTN_uc010zfj.1_Missense_Mutation_p.I19312T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1310										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			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.385027	250.491777	252.645289	72	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179425729	179425729	17290	2	A	G	G	G	208	16	TTN	4	4
SDPR	8436	broad.mit.edu	37	2	192700900	192700900	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:192700900C>T	uc002utb.2	-	c.1027G>A	c.(1027-1029)GCC>ACC	p.A343T		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	343						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)									0.237903	138.724191	154.273201	59	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192700900	192700900	14456	2	C	T	T	T	351	27	SDPR	1	1
CLK1	1195	broad.mit.edu	37	2	201718134	201718134	+	Silent	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201718134G>C	uc010zhi.1	-	c.1476C>G	c.(1474-1476)CTC>CTG	p.L492L	CLK1_uc002uwd.2_Silent_p.L273L|CLK1_uc002uwe.2_Silent_p.L450L|CLK1_uc002uwf.2_Silent_p.L224L|CLK1_uc002uwg.2_Silent_p.L299L|CLK1_uc010fsv.2_Non-coding_Transcript	NM_001162407	NP_001155879	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 2	450	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2										173				0.079208	4.916817	23.175785	8	93	KEEP	---	---	---	---	capture		Silent	SNP	201718134	201718134	3674	2	G	C	C	C	418	33	CLK1	3	3
MAP2	4133	broad.mit.edu	37	2	210557842	210557842	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210557842C>T	uc002vde.1	+	c.948C>T	c.(946-948)CCC>CCT	p.P316P	MAP2_uc002vdc.1_Silent_p.P316P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.P312P	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	316					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|large_intestine(2)|pancreas(2)|central_nervous_system(1)	14		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	Pancreas(27;423 979 28787 29963)								0.34127	131.011135	133.805066	43	83	KEEP	---	---	---	---	capture		Silent	SNP	210557842	210557842	9618	2	C	T	T	T	301	24	MAP2	2	2
MAP2	4133	broad.mit.edu	37	2	210570428	210570428	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210570428C>T	uc002vde.1	+	c.4709C>T	c.(4708-4710)TCT>TTT	p.S1570F	MAP2_uc002vdd.1_Missense_Mutation_p.S271F|MAP2_uc002vdf.1_Missense_Mutation_p.S214F|MAP2_uc002vdg.1_Missense_Mutation_p.S214F|MAP2_uc002vdh.1_Missense_Mutation_p.S271F|MAP2_uc002vdi.1_Missense_Mutation_p.S1566F	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1570					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|large_intestine(2)|pancreas(2)|central_nervous_system(1)	14		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	Pancreas(27;423 979 28787 29963)								0.2	49.839918	58.211764	20	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210570428	210570428	9618	2	C	T	T	T	416	32	MAP2	2	2
CCDC108	255101	broad.mit.edu	37	2	219896286	219896286	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219896286C>T	uc002vjl.1	-	c.740G>A	c.(739-741)CGC>CAC	p.R247H	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.R236H|CCDC108_uc010zkq.1_Missense_Mutation_p.R182H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	247						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.201613	91.094607	111.577423	50	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219896286	219896286	2863	2	C	T	T	T	351	27	CCDC108	1	1
COL6A3	1293	broad.mit.edu	37	2	238249550	238249550	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238249550G>A	uc002vwl.2	-	c.8009C>T	c.(8008-8010)GCG>GTG	p.A2670V	COL6A3_uc002vwo.2_Missense_Mutation_p.A2464V|COL6A3_uc010znj.1_Missense_Mutation_p.A2063V|COL6A3_uc002vwj.2_Missense_Mutation_p.A51V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2670	VWFA 12.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.357895	97.925815	99.614361	34	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238249550	238249550	3839	2	G	A	A	A	494	38	COL6A3	1	1
C2orf54	79919	broad.mit.edu	37	2	241826542	241826542	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241826542G>A	uc002wae.3	-	c.1289C>T	c.(1288-1290)TCT>TTT	p.S430F	C2orf54_uc002wac.2_Missense_Mutation_p.S262F|C2orf54_uc002wad.2_Missense_Mutation_p.S281F	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	hypothetical protein LOC79919 isoform 1	430											0		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)										0.238462	80.961271	89.081341	31	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241826542	241826542	2263	2	G	A	A	A	429	33	C2orf54	2	2
C2orf44	80304	broad.mit.edu	37	2	24260579	24260579	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24260579G>C	uc002rep.2	-	c.1786C>G	c.(1786-1788)CAA>GAA	p.Q596E	C2orf44_uc010eya.2_Missense_Mutation_p.Q596E	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	596							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.057018	-9.92708	37.051812	13	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24260579	24260579	2256	2	G	C	C	C	585	45	C2orf44	3	3
C2orf39	92749	broad.mit.edu	37	2	26624954	26624954	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26624954C>G	uc002rhg.2	+	c.97C>G	c.(97-99)CAG>GAG	p.Q33E	C2orf39_uc010eym.1_Non-coding_Transcript	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	33											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.1	4.201211	8.996344	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26624954	26624954	2252	2	C	G	G	G	377	29	C2orf39	3	3
ACP1	52	broad.mit.edu	37	2	277226	277226	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:277226G>T	uc002qwg.2	+	c.400_splice	c.e6-1	p.G134_splice	ACP1_uc002qwh.2_Splice_Site_SNP|ACP1_uc002qwf.2_Splice_Site_SNP_p.G134_splice	NM_007099	NP_009030			acid phosphatase 1, soluble isoform b							cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity				0	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)										0.246377	123.81157	135.942827	51	156	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	277226	277226	163	2	G	T	T	T	455	35	ACP1	5	2
EHD3	30845	broad.mit.edu	37	2	31489172	31489172	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31489172C>T	uc002rnu.2	+	c.1210C>T	c.(1210-1212)CGG>TGG	p.R404W	EHD3_uc010ymt.1_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	404					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)													0.183099	26.041196	32.72915	13	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31489172	31489172	5168	2	C	T	T	T	347	27	EHD3	1	1
FAM136A	84908	broad.mit.edu	37	2	70528037	70528037	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:70528037C>G	uc002sgq.3	-	c.163G>C	c.(163-165)GAG>CAG	p.E55Q	FAM136A_uc010fdp.2_Non-coding_Transcript	NM_032822	NP_116211	Q96C01	F136A_HUMAN	hypothetical protein LOC84908	55						mitochondrion	protein binding				0														0.149038	64.989783	89.570029	31	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70528037	70528037	5647	2	C	G	G	G	403	31	FAM136A	3	3
CTNNA2	1496	broad.mit.edu	37	2	80101241	80101241	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80101241G>A	uc010ysh.1	+	c.625G>A	c.(625-627)GCC>ACC	p.A209T	CTNNA2_uc010yse.1_Missense_Mutation_p.A209T|CTNNA2_uc010ysf.1_Missense_Mutation_p.A209T|CTNNA2_uc010ysg.1_Missense_Mutation_p.A209T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	209					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.225806	31.48632	35.720342	14	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80101241	80101241	4172	2	G	A	A	A	494	38	CTNNA2	1	1
SNRNP200	23020	broad.mit.edu	37	2	96949642	96949642	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96949642T>C	uc002svu.2	-	c.4493A>G	c.(4492-4494)AAG>AGG	p.K1498R	SNRNP200_uc002svt.2_Missense_Mutation_p.K108R|SNRNP200_uc010yuj.1_Non-coding_Transcript|SNRNP200_uc002svv.1_Missense_Mutation_p.K25R	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1498	Helicase ATP-binding 2.				cis assembly of pre-catalytic spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|large_intestine(1)|skin(1)	7														0.368421	21.010788	21.303278	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96949642	96949642	15352	2	T	C	C	C	728	56	SNRNP200	4	4
PODXL2	50512	broad.mit.edu	37	3	127381120	127381120	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:127381120A>G	uc003ejq.2	+	c.1172A>G	c.(1171-1173)TAC>TGC	p.Y391C		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2 precursor	391	Extracellular (Potential).				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			ovary(1)|central_nervous_system(1)	2														0.366667	77.138962	78.074962	22	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127381120	127381120	12609	3	A	G	G	G	182	14	PODXL2	4	4
IFT122	55764	broad.mit.edu	37	3	129183488	129183488	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129183488G>T	uc003eml.2	+	c.580G>T	c.(580-582)GAT>TAT	p.D194Y	IFT122_uc003emm.2_Missense_Mutation_p.D143Y|IFT122_uc003emn.2_Missense_Mutation_p.D143Y|IFT122_uc003emo.2_Missense_Mutation_p.D91Y|IFT122_uc003emp.2_5'UTR|IFT122_uc010htc.2_Missense_Mutation_p.D194Y|IFT122_uc011bky.1_5'UTR|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_5'UTR|IFT122_uc011bla.1_5'UTR|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 1	143	WD 4.				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)	1														0.053097	-26.796698	20.899578	12	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129183488	129183488	7856	3	G	T	T	T	585	45	IFT122	2	2
ACPL2	92370	broad.mit.edu	37	3	141006210	141006210	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141006210C>T	uc003etu.2	+	c.420C>T	c.(418-420)TCC>TCT	p.S140S	ACPL2_uc003etv.2_Silent_p.S140S|ACPL2_uc011bna.1_Silent_p.S102S|ACPL2_uc011bnb.1_Silent_p.S123S	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	140						extracellular region	acid phosphatase activity				0														0.274194	224.820339	239.077124	85	225	KEEP	---	---	---	---	capture		Silent	SNP	141006210	141006210	167	3	C	T	T	T	288	23	ACPL2	1	1
C3orf19	51244	broad.mit.edu	37	3	14712462	14712462	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14712462G>C	uc003byw.2	+	c.1165G>C	c.(1165-1167)GAG>CAG	p.E389Q	C3orf19_uc010hej.2_Missense_Mutation_p.E218Q	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	389											0														0.169492	23.213398	29.313072	10	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14712462	14712462	2305	3	G	C	C	C	585	45	C3orf19	3	3
GADL1	339896	broad.mit.edu	37	3	30842577	30842577	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:30842577G>T	uc003cep.2	-	c.1054C>A	c.(1054-1056)CTT>ATT	p.L352I	GADL1_uc003ceq.1_Missense_Mutation_p.L352I	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	352					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)									0.516667	89.225526	89.240275	31	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30842577	30842577	6436	3	G	T	T	T	429	33	GADL1	2	2
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:41266124A>G	uc010hia.1	+	c.121A>G	c.(121-123)ACC>GCC	p.T41A	CTNNB1_uc003ckp.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckq.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41A|CTNNB1_uc011azf.1_Missense_Mutation_p.T34A|CTNNB1_uc011azg.1_Intron	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	41			T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).|T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|patterning of blood vessels|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|promoter binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription repressor activity	p.T41A(462)|p.A5_A80del(74)|p.H24_S47del(18)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_I140del(5)|p.V22_L139>V(4)|p.G34R(4)|p.T41P(4)|p.T41I(3)|p.G34E(3)|p.T41S(3)|p.A5_Q72del(2)|p.A20_Q143del(2)|p.A20_Q72del(2)|p.T3_A126del(2)|p.M8_G50del(2)|p.A5fs*7(2)|p.D6_A43del(2)|p.A5_T42del(2)|p.W25_H36del(2)|p.V22_G80>NNNNN(2)|p.D6_K133del(2)|p.M5_N141>D(2)|p.A5_D144>D(2)|p.A5_R90del(2)|p.?(2)|p.W25_A80del(2)|p.D17_P128del(2)|p.A20_R151del(2)|p.L7_I140del(2)|p.E9_A80del(2)|p.K19_Y142>V(2)|p.D17_A126del(2)|p.V22_A80del(2)|p.E9_I140del(2)|p.M1_T42del(2)|p.D6_I140del(2)|p.L10_N141del(2)|p.A20_L148del(2)|p.A5_Y142>D(2)|p.Q28_I140del(2)|p.S23_I140del(2)|p.E9_S47del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.S33_G34del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.D32_S47del(1)|p.I35_T41del(1)|p.T41N(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.G38_S45del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.G34V(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.G34_S37del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_A80del(1)		liver(787)|soft_tissue(609)|large_intestine(228)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(127)|ovary(101)|skin(97)|pancreas(91)|pituitary(81)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|adrenal_gland(49)|biliary_tract(41)|lung(33)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|salivary_gland(2)|eye(1)	3016				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	Colon(6;3 56 14213 18255)	T41A(CCK81_LARGE_INTESTINE)	15	p.T41A(LXF289-Tumor)|p.T41A(CCK81-Tumor)|p.T41A(SNU407-Tumor)	237				0.407407	40.724907	40.925727	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41266124	41266124	4175	3	A	G	G	G	182	14	CTNNB1	4	4
SHQ1	55164	broad.mit.edu	37	3	72866403	72866403	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:72866403C>T	uc003dpf.2	-	c.860G>A	c.(859-861)CGT>CAT	p.R287H	SHQ1_uc010hod.2_Missense_Mutation_p.R198H	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	287					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)										0.231707	47.382797	52.789231	19	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72866403	72866403	14787	3	C	T	T	T	247	19	SHQ1	1	1
FAT4	79633	broad.mit.edu	37	4	126240611	126240611	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126240611C>T	uc003ifj.3	+	c.3045C>T	c.(3043-3045)TTC>TTT	p.F1015F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1015	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.349515	106.545803	108.614115	36	67	KEEP	---	---	---	---	capture		Silent	SNP	126240611	126240611	5928	4	C	T	T	T	415	32	FAT4	2	2
SCLT1	132320	broad.mit.edu	37	4	129925026	129925026	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:129925026T>C	uc003igp.2	-	c.296A>G	c.(295-297)CAC>CGC	p.H99R	SCLT1_uc003igq.2_Missense_Mutation_p.H99R|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	99	Potential.					cytoplasm				ovary(3)|central_nervous_system(1)	4														0.384615	48.416496	48.87146	15	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129925026	129925026	14388	4	T	C	C	C	767	59	SCLT1	4	4
NAA15	80155	broad.mit.edu	37	4	140270690	140270690	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:140270690G>A	uc003ihu.1	+	c.766G>A	c.(766-768)GAA>AAA	p.E256K		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	256	TPR 4.				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)	1														0.189189	14.501917	17.847121	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140270690	140270690	10513	4	G	A	A	A	585	45	NAA15	2	2
INPP4B	8821	broad.mit.edu	37	4	143081533	143081533	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:143081533G>A	uc003iix.3	-	c.1541C>T	c.(1540-1542)TCA>TTA	p.S514L	INPP4B_uc003iiw.3_Missense_Mutation_p.S514L|INPP4B_uc011chm.1_Non-coding_Transcript|INPP4B_uc011chn.1_Missense_Mutation_p.S329L|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Missense_Mutation_p.S385L	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	514					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)									564				0.170732	24.391926	32.807751	14	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143081533	143081533	8054	4	G	A	A	A	585	45	INPP4B	2	2
FAT1	2195	broad.mit.edu	37	4	187627769	187627769	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187627769G>A	uc003izf.2	-	c.3213C>T	c.(3211-3213)TAC>TAT	p.Y1071Y	FAT1_uc010iso.1_Silent_p.Y1071Y	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1071	Extracellular (Potential).|Cadherin 9.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.243243	110.984955	122.102454	45	140	KEEP	---	---	---	---	capture		Silent	SNP	187627769	187627769	5925	4	G	A	A	A	464	36	FAT1	2	2
LPHN3	23284	broad.mit.edu	37	4	62863911	62863911	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62863911G>T	uc010ihh.2	+	c.3119G>T	c.(3118-3120)GGG>GTG	p.G1040V	LPHN3_uc003hcq.3_Missense_Mutation_p.G1040V|LPHN3_uc003hct.2_Missense_Mutation_p.G433V	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1027	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.236842	20.652614	23.060488	9	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62863911	62863911	9290	4	G	T	T	T	559	43	LPHN3	2	2
NPFFR2	10886	broad.mit.edu	37	4	73012878	73012878	+	Nonsense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73012878C>G	uc003hgg.2	+	c.918C>G	c.(916-918)TAC>TAG	p.Y306*	NPFFR2_uc010iig.1_Nonsense_Mutation_p.Y88*|NPFFR2_uc003hgi.2_Nonsense_Mutation_p.Y207*|NPFFR2_uc003hgh.2_Nonsense_Mutation_p.Y204*|NPFFR2_uc003hgj.2_Non-coding_Transcript	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	306	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)											0.101124	11.805365	25.935387	9	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	73012878	73012878	10982	4	C	G	G	G	259	20	NPFFR2	5	3
SCARB2	950	broad.mit.edu	37	4	77116918	77116918	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77116918C>G	uc003hju.1	-	c.217G>C	c.(217-219)GAG>CAG	p.E73Q	SCARB2_uc011cbu.1_Missense_Mutation_p.E73Q	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	73	Lumenal (Potential).				cell adhesion	integral to plasma membrane|lysosomal membrane|membrane fraction	protein binding|receptor activity				0			Lung(101;0.196)											0.052239	-12.89677	15.526093	7	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77116918	77116918	14363	4	C	G	G	G	416	32	SCARB2	3	3
CNOT6L	246175	broad.mit.edu	37	4	78652569	78652569	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:78652569T>G	uc011ccd.1	-	c.996A>C	c.(994-996)TTA>TTC	p.L332F	CNOT6L_uc003hks.2_Missense_Mutation_p.L332F|CNOT6L_uc003hkt.1_Missense_Mutation_p.L175F	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	332					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1														0.285714	17.640954	18.506463	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78652569	78652569	3761	4	T	G	G	G	686	53	CNOT6L	4	4
GK2	2712	broad.mit.edu	37	4	80329119	80329119	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:80329119T>C	uc003hlu.2	-	c.236A>G	c.(235-237)AAT>AGT	p.N79S		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	79					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)	2														0.44385	307.813551	308.325419	83	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80329119	80329119	6689	4	T	C	C	C	676	52	GK2	4	4
WDFY3	23001	broad.mit.edu	37	4	85716110	85716111	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85716110_85716111CC>AG	uc003hpd.2	-	c.3189_3190GG>CT	c.(3187-3192)TTGGCC>TTCTCC	p.1063_1064LA>FS		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1063_1064						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)										0.296296	23.788642	24.791072	8	19	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	85716110	85716111	17842	4	CC	AG	AG	AG	338	26	WDFY3	2	2
HERC6	55008	broad.mit.edu	37	4	89334306	89334306	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89334306C>T	uc011cdi.1	+	c.1446C>T	c.(1444-1446)TTC>TTT	p.F482F	HERC6_uc011cdj.1_Silent_p.F482F|HERC6_uc011cdk.1_Non-coding_Transcript|HERC6_uc011cdl.1_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	482					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(1)|kidney(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)										0.117187	35.552939	72.45959	30	226	KEEP	---	---	---	---	capture		Silent	SNP	89334306	89334306	7345	4	C	T	T	T	389	30	HERC6	2	2
PCDHB12	56124	broad.mit.edu	37	5	140589829	140589829	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140589829C>T	uc003liz.2	+	c.1350C>T	c.(1348-1350)GCC>GCT	p.A450A	PCDHB12_uc011dak.1_Silent_p.A113A	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	450	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.512	206.419305	206.436358	64	61	KEEP	---	---	---	---	capture		Silent	SNP	140589829	140589829	11957	5	C	T	T	T	301	24	PCDHB12	2	2
PCDHGB5	56101	broad.mit.edu	37	5	140777700	140777700	+	Silent	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140777700G>T	uc003lkf.1	+	c.6G>T	c.(4-6)GGG>GGT	p.G2G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.G2G	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	2					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)									OREG0016860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.375	7.220844	7.331326	3	5	KEEP	---	---	---	---	capture		Silent	SNP	140777700	140777700	11986	5	G	T	T	T	522	41	PCDHGB5	2	2
FBXL7	23194	broad.mit.edu	37	5	15937008	15937008	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15937008C>T	uc003jfn.1	+	c.1189C>T	c.(1189-1191)CTC>TTC	p.L397F		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	397	LRR 9.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.171429	12.627866	16.199868	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15937008	15937008	5961	5	C	T	T	T	312	24	FBXL7	2	2
CDH10	1008	broad.mit.edu	37	5	24537720	24537720	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24537720C>A	uc003jgr.1	-	c.295G>T	c.(295-297)GGT>TGT	p.G99C	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	99	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.2	20.047524	23.81572	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24537720	24537720	3225	5	C	A	A	A	273	21	CDH10	2	2
CDH9	1007	broad.mit.edu	37	5	26906156	26906156	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26906156C>A	uc003jgs.1	-	c.723G>T	c.(721-723)ATG>ATT	p.M241I	CDH9_uc010iug.2_Missense_Mutation_p.M241I	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	241	Extracellular (Potential).|Cadherin 2.				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)								0.246377	85.07738	93.161888	34	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26906156	26906156	3246	5	C	A	A	A	273	21	CDH9	2	2
RAI14	26064	broad.mit.edu	37	5	34824141	34824141	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34824141G>C	uc003jis.2	+	c.2203G>C	c.(2203-2205)GAA>CAA	p.E735Q	RAI14_uc003jir.2_Missense_Mutation_p.E732Q|RAI14_uc010iur.2_Missense_Mutation_p.E703Q|RAI14_uc011coj.1_Missense_Mutation_p.E732Q|RAI14_uc003jit.2_Missense_Mutation_p.E732Q|RAI14_uc011cok.1_Missense_Mutation_p.E724Q	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform d	732	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)													0.05814	-4.000837	13.602378	5	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34824141	34824141	13468	5	G	C	C	C	429	33	RAI14	3	3
PRKAA1	5562	broad.mit.edu	37	5	40764982	40764982	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40764982G>C	uc003jmb.2	-	c.1225C>G	c.(1225-1227)CCA>GCA	p.P409A	PRKAA1_uc003jmc.2_Missense_Mutation_p.P394A	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	394					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)					149				0.135593	15.261053	22.850265	8	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40764982	40764982	12936	5	G	C	C	C	533	41	PRKAA1	3	3
CEP72	55722	broad.mit.edu	37	5	639206	639206	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:639206G>A	uc003jbf.2	+	c.1209G>A	c.(1207-1209)CCG>CCA	p.P403P	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	403					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)											0.12963	16.6763	31.111062	14	94	KEEP	---	---	---	---	capture		Silent	SNP	639206	639206	3393	5	G	A	A	A	509	40	CEP72	1	1
RAD17	5884	broad.mit.edu	37	5	68670478	68670478	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:68670478G>A	uc003jwo.2	+	c.324G>A	c.(322-324)AAG>AAA	p.K108K	RAD17_uc003jwg.2_Silent_p.K97K|RAD17_uc003jwh.2_Silent_p.K97K|RAD17_uc003jwi.2_Silent_p.K97K|RAD17_uc003jwj.2_Silent_p.K97K|RAD17_uc003jwk.2_Silent_p.K97K|RAD17_uc003jwl.2_Silent_p.K97K|RAD17_uc003jwm.2_5'UTR|RAD17_uc003jwn.2_Silent_p.K11K	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	108					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)										0.151515	10.651713	14.490455	5	28	KEEP	---	---	---	---	capture		Silent	SNP	68670478	68670478	13438	5	G	A	A	A	425	33	RAD17	2	2
SCML4	256380	broad.mit.edu	37	6	108041921	108041921	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:108041921T>A	uc010kdf.2	-	c.959A>T	c.(958-960)GAA>GTA	p.E320V	SCML4_uc003prz.3_Missense_Mutation_p.E262V|SCML4_uc011eam.1_Missense_Mutation_p.E320V|SCML4_uc003pry.3_Missense_Mutation_p.E78V|SCML4_uc003psa.3_Missense_Mutation_p.E291V	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	320	SAM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)										0.174672	72.376062	95.234515	40	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108041921	108041921	14393	6	T	A	A	A	806	62	SCML4	3	3
AHI1	54806	broad.mit.edu	37	6	135763829	135763829	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:135763829G>C	uc003qgi.2	-	c.1803C>G	c.(1801-1803)CAC>CAG	p.H601Q	AHI1_uc003qgf.2_Non-coding_Transcript|AHI1_uc003qgg.2_Missense_Mutation_p.H51Q|AHI1_uc003qgh.2_Missense_Mutation_p.H601Q|AHI1_uc003qgj.2_Missense_Mutation_p.H601Q|AHI1_uc003qgk.3_Intron|AHI1_uc003qgl.3_Missense_Mutation_p.H601Q	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	601						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)										0.363636	14.797534	14.977303	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135763829	135763829	416	6	G	C	C	C	568	44	AHI1	3	3
NUP43	348995	broad.mit.edu	37	6	150064778	150064778	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:150064778T>A	uc003qmz.2	-	c.317A>T	c.(316-318)AAC>ATC	p.N106I	NUP43_uc011eee.1_Non-coding_Transcript|NUP43_uc011eef.1_Missense_Mutation_p.N106I	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	106	WD 2.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)										0.410256	46.084217	46.360436	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150064778	150064778	11170	6	T	A	A	A	780	60	NUP43	3	3
TULP4	56995	broad.mit.edu	37	6	158924616	158924616	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:158924616G>A	uc003qrf.2	+	c.3921G>A	c.(3919-3921)GTG>GTA	p.V1307V	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1307					intracellular signal transduction|regulation of transcription, DNA-dependent|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)										0.123894	15.994877	31.608689	14	99	KEEP	---	---	---	---	capture		Silent	SNP	158924616	158924616	17331	6	G	A	A	A	574	45	TULP4	2	2
SLC17A2	10246	broad.mit.edu	37	6	25917311	25917311	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25917311G>A	uc003nfl.2	-	c.654C>T	c.(652-654)AGC>AGT	p.S218S	SLC17A2_uc011dkb.1_Silent_p.S218S|SLC17A2_uc011dkc.1_Silent_p.S218S	NM_005835	NP_005826	O00624	NPT3_HUMAN	solute carrier family 17 (sodium phosphate),	218	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1														0.074766	-3.191798	16.673697	8	99	KEEP	---	---	---	---	capture		Silent	SNP	25917311	25917311	14913	6	G	A	A	A	594	46	SLC17A2	2	2
OR2J3	442186	broad.mit.edu	37	6	29080183	29080183	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29080183T>A	uc011dll.1	+	c.516T>A	c.(514-516)TGT>TGA	p.C172*		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.103704	12.341157	33.514825	14	121	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29080183	29080183	11410	6	T	A	A	A	764	59	OR2J3	5	3
PBX2	5089	broad.mit.edu	37	6	32156269	32156270	+	Missense_Mutation	DNP	CG	GA	GA			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32156269_32156270CG>GA	uc003oav.1	-	c.307_308CG>TC	c.(307-309)CGG>TCG	p.R103S	PBX2_uc003oaw.2_Missense_Mutation_p.R103S	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	103							transcription factor binding|transcription regulator activity			ovary(1)	1														0.26	37.549653	40.159806	13	37	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	32156269	32156270	11913	6	CG	GA	GA	GA	299	23	PBX2	3	3
KIF6	221458	broad.mit.edu	37	6	39512386	39512386	+	Silent	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39512386T>C	uc003oot.2	-	c.1371A>G	c.(1369-1371)AAA>AAG	p.K457K	KIF6_uc010jxa.1_Silent_p.K248K|KIF6_uc011dua.1_Silent_p.K457K|KIF6_uc010jxb.1_Silent_p.K457K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	457	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3														0.086957	5.696204	17.610726	6	63	KEEP	---	---	---	---	capture		Silent	SNP	39512386	39512386	8619	6	T	C	C	C	725	56	KIF6	4	4
FRS3	10817	broad.mit.edu	37	6	41743230	41743230	+	Silent	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41743230G>T	uc003orc.1	-	c.180C>A	c.(178-180)CTC>CTA	p.L60L		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	60	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	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)											0.136364	7.516244	13.155098	6	38	KEEP	---	---	---	---	capture		Silent	SNP	41743230	41743230	6312	6	G	T	T	T	418	33	FRS3	2	2
AARS2	57505	broad.mit.edu	37	6	44274243	44274243	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44274243C>A	uc010jza.1	-	c.1176G>T	c.(1174-1176)AGG>AGT	p.R392S	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	392					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)									0.032723	-143.197956	39.03944	25	739	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44274243	44274243	21	6	C	A	A	A	389	30	AARS2	2	2
PGK2	5232	broad.mit.edu	37	6	49753774	49753774	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49753774G>T	uc003ozu.2	-	c.1127C>A	c.(1126-1128)ACT>AAT	p.T376N		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	376	ATP (By similarity).				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)													0.270903	215.532998	229.693852	81	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49753774	49753774	12214	6	G	T	T	T	468	36	PGK2	2	2
ME1	4199	broad.mit.edu	37	6	84025049	84025049	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84025049G>A	uc003pjy.2	-	c.684C>T	c.(682-684)TTC>TTT	p.F228F	ME1_uc011dzb.1_Silent_p.F153F|ME1_uc011dzc.1_Silent_p.F62F	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	228					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|oxidation-reduction process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			ovary(1)	1		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)									0.098592	3.865784	15.318497	7	64	KEEP	---	---	---	---	capture		Silent	SNP	84025049	84025049	9806	6	G	A	A	A	581	45	ME1	2	2
MDN1	23195	broad.mit.edu	37	6	90438775	90438775	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90438775C>A	uc003pnn.1	-	c.5224G>T	c.(5224-5226)GCT>TCT	p.A1742S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1742					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)										0.097222	2.452053	14.214411	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90438775	90438775	9804	6	C	A	A	A	364	28	MDN1	2	2
MDN1	23195	broad.mit.edu	37	6	90503650	90503650	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90503650T>A	uc003pnn.1	-	c.686A>T	c.(685-687)CAG>CTG	p.Q229L	MDN1_uc003pnp.1_Missense_Mutation_p.Q229L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	229					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)										0.372549	59.012434	59.739998	19	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90503650	90503650	9804	6	T	A	A	A	715	55	MDN1	3	3
PIK3CG	5294	broad.mit.edu	37	7	106508499	106508499	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106508499G>A	uc003vdv.3	+	c.493G>A	c.(493-495)GTC>ATC	p.V165I	PIK3CG_uc003vdu.2_Missense_Mutation_p.V165I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V165I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	165					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.1875	11.93297	14.858678	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106508499	106508499	12340	7	G	A	A	A	520	40	PIK3CG	1	1
DOCK4	9732	broad.mit.edu	37	7	111617307	111617307	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111617307G>A	uc003vfy.2	-	c.581C>T	c.(580-582)CCG>CTG	p.P194L	DOCK4_uc003vfx.2_Missense_Mutation_p.P194L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.P194L|DOCK4_uc003vgb.1_Missense_Mutation_p.P118L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	194					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.210526	10.092619	11.563019	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111617307	111617307	4873	7	G	A	A	A	507	39	DOCK4	1	1
DOCK4	9732	broad.mit.edu	37	7	111634226	111634226	+	Silent	SNP	T	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111634226T>C	uc003vfy.2	-	c.279A>G	c.(277-279)TTA>TTG	p.L93L	DOCK4_uc003vfx.2_Silent_p.L93L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.L93L|DOCK4_uc003vgb.1_Silent_p.L17L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	93					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.211268	43.688847	49.159211	15	56	KEEP	---	---	---	---	capture		Silent	SNP	111634226	111634226	4873	7	T	C	C	C	790	61	DOCK4	4	4
KCND2	3751	broad.mit.edu	37	7	119915637	119915637	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:119915637G>A	uc003vjj.1	+	c.951G>A	c.(949-951)CTG>CTA	p.L317L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	317	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(327;0.117)													0.095652	4.128882	23.005671	11	104	KEEP	---	---	---	---	capture		Silent	SNP	119915637	119915637	8324	7	G	A	A	A	574	45	KCND2	2	2
CCDC136	64753	broad.mit.edu	37	7	128457828	128457828	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128457828A>G	uc003vnv.1	+	c.3380A>G	c.(3379-3381)AAT>AGT	p.N1127S	CCDC136_uc003vnu.1_Missense_Mutation_p.N407S|CCDC136_uc003vnw.1_Missense_Mutation_p.N488S|CCDC136_uc003vnx.1_Intron|CCDC136_uc010llq.1_Intron|CCDC136_uc003vny.1_Intron	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			ovary(2)	2														0.185075	168.952255	200.119546	62	273	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128457828	128457828	2890	7	A	G	G	G	52	4	CCDC136	4	4
KLHDC10	23008	broad.mit.edu	37	7	129736765	129736765	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129736765G>C	uc003vpj.1	+	c.171G>C	c.(169-171)AAG>AAC	p.K57N	KLHDC10_uc003vpk.1_Intron|KLHDC10_uc010lmb.1_Intron	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	57											0														0.086957	3.362547	11.307151	4	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129736765	129736765	8667	7	G	C	C	C	425	33	KLHDC10	3	3
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140481402C>A	uc003vwc.3	-	c.1406G>T	c.(1405-1407)GGA>GTA	p.G469V		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	469	ATP (By similarity).|Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(18)|p.G469V(12)|p.G469S(6)|p.G469E(5)|p.G469R(1)	KIAA1549/BRAF(211)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(7681)|large_intestine(4665)|skin(3221)|NS(366)|central_nervous_system(264)|ovary(219)|lung(77)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(27)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(16)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	16798	Melanoma(164;0.00956)				Sorafenib(DB00398)	Colon(40;35 892 2973 5743 27438)	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61		451				0.341463	149.527831	153.180858	56	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140481402	140481402	1527	7	C	A	A	A	390	30	BRAF	2	2
ESYT2	57488	broad.mit.edu	37	7	158555808	158555808	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:158555808C>T	uc003wob.1	-	c.1294G>A	c.(1294-1296)GAT>AAT	p.D432N	ESYT2_uc003woc.1_Missense_Mutation_p.D256N|ESYT2_uc003wod.1_Missense_Mutation_p.D432N|ESYT2_uc003woa.1_5'UTR	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	460	C2 1.					integral to membrane|plasma membrane				kidney(1)	1														0.1875	19.945932	24.335669	9	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158555808	158555808	5458	7	C	T	T	T	377	29	ESYT2	2	2
RAPGEF5	9771	broad.mit.edu	37	7	22259492	22259492	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:22259492G>A	uc003svg.2	-	c.530C>T	c.(529-531)TCT>TTT	p.S177F		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	Error:Variant_position_missing_in_Q92565_after_alignment					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1														0.077922	-1.016392	13.017611	6	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22259492	22259492	13507	7	G	A	A	A	429	33	RAPGEF5	2	2
AQP1	358	broad.mit.edu	37	7	30963178	30963178	+	Silent	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30963178C>T	uc011kac.1	+	c.924C>T	c.(922-924)GGC>GGT	p.G308G	AQP1_uc003tbv.1_Silent_p.G248G|AQP1_uc010kwf.1_Silent_p.G165G|AQP1_uc010kwg.1_Silent_p.G129G|AQP1_uc010kwh.1_Silent_p.G197G	NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	248	Cytoplasmic.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)									0.246154	38.589778	42.39188	16	49	KEEP	---	---	---	---	capture		Silent	SNP	30963178	30963178	832	7	C	T	T	T	327	26	AQP1	2	2
SEC61G	23480	broad.mit.edu	37	7	54823477	54823477	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:54823477G>A	uc003tqf.2	-	c.192C>T	c.(190-192)ATC>ATT	p.I64I	SEC61G_uc003tqg.2_Silent_p.I64I	NM_001012456	NP_001012474	P60059	SC61G_HUMAN	Sec61 gamma subunit	64	Extracellular (Potential).				protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			lung(1)	1	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)											0.136842	16.302468	28.441864	13	82	KEEP	---	---	---	---	capture		Silent	SNP	54823477	54823477	14489	7	G	A	A	A	577	45	SEC61G	2	2
ZNF479	90827	broad.mit.edu	37	7	57188723	57188723	+	Silent	SNP	A	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57188723A>T	uc010kzo.2	-	c.399T>A	c.(397-399)GGT>GGA	p.G133G		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.335766	140.513394	143.779962	46	91	KEEP	---	---	---	---	capture		Silent	SNP	57188723	57188723	18527	7	A	T	T	T	67	6	ZNF479	3	3
AKAP9	10142	broad.mit.edu	37	7	91737903	91737903	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91737903C>T	uc003ulg.2	+	c.11642C>T	c.(11641-11643)ACT>ATT	p.T3881I	AKAP9_uc003ulf.2_Missense_Mutation_p.T3873I|AKAP9_uc003uli.2_Missense_Mutation_p.T3504I|AKAP9_uc003ulj.2_Missense_Mutation_p.T1651I|AKAP9_uc003ull.2_Missense_Mutation_p.T777I	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3885					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)							807				0.101852	11.243627	28.314937	11	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91737903	91737903	462	7	C	T	T	T	260	20	AKAP9	2	2
RGS22	26166	broad.mit.edu	37	8	101105679	101105679	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101105679A>C	uc003yjb.1	-	c.113T>G	c.(112-114)CTT>CGT	p.L38R	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.L38R|RGS22_uc010mbo.1_Non-coding_Transcript	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	38					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|breast(1)|central_nervous_system(1)	5			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)							790				0.318182	43.834302	45.127222	14	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101105679	101105679	13779	8	A	C	C	C	39	3	RGS22	4	4
SNX31	169166	broad.mit.edu	37	8	101608886	101608886	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101608886C>G	uc003yjr.2	-	c.959G>C	c.(958-960)TGC>TCC	p.C320S	SNX31_uc011lha.1_Missense_Mutation_p.C115S|SNX31_uc011lhb.1_Missense_Mutation_p.C221S	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	320					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)											0.391608	194.169179	195.639415	56	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101608886	101608886	15401	8	C	G	G	G	325	25	SNX31	3	3
CSMD3	114788	broad.mit.edu	37	8	114290863	114290863	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:114290863C>A	uc003ynu.2	-	c.472G>T	c.(472-474)GAT>TAT	p.D158Y	CSMD3_uc003ynt.2_Missense_Mutation_p.D118Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D158Y|CSMD3_uc010mcx.1_Missense_Mutation_p.D158Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	158	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52									p.D118N(COLO679-Tumor)	2888	TCGA Ovarian(7;0.080)			0.222222	16.877793	19.436219	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114290863	114290863	4087	8	C	A	A	A	377	29	CSMD3	2	2
ZNF16	7564	broad.mit.edu	37	8	146156370	146156370	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:146156370G>A	uc003zet.2	-	c.1803C>T	c.(1801-1803)TAC>TAT	p.Y601Y	ZNF16_uc003zeu.2_Silent_p.Y601Y	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	601	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)										0.293103	82.692982	87.145481	34	82	KEEP	---	---	---	---	capture		Silent	SNP	146156370	146156370	18329	8	G	A	A	A	620	48	ZNF16	2	2
INTS9	55756	broad.mit.edu	37	8	28654152	28654152	+	Silent	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:28654152G>C	uc003xha.2	-	c.765C>G	c.(763-765)CTC>CTG	p.L255L	INTS9_uc011lav.1_Silent_p.L231L|INTS9_uc011law.1_Silent_p.L234L|INTS9_uc011lax.1_Silent_p.L148L|INTS9_uc010lvc.2_Non-coding_Transcript|INTS9_uc003xhb.2_Silent_p.L255L	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	255					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)										0.423729	93.366828	93.666141	25	34	KEEP	---	---	---	---	capture		Silent	SNP	28654152	28654152	8086	8	G	C	C	C	574	45	INTS9	3	3
WRN	7486	broad.mit.edu	37	8	30924661	30924661	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30924661C>T	uc003xio.3	+	c.617C>T	c.(616-618)ACT>ATT	p.T206I		NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	206	Interaction with WRNIP1 (By similarity).|3'-5' exonuclease.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)	5		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		Ovarian(18;161 598 2706 14834 27543)				832				0.109091	5.110162	13.4375	6	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30924661	30924661	17976	8	C	T	T	T	260	20	WRN	2	2
SGK196	84197	broad.mit.edu	37	8	42977285	42977285	+	Silent	SNP	A	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42977285A>G	uc003xpw.2	+	c.318A>G	c.(316-318)GCA>GCG	p.A106A		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	106	Protein kinase.				protein phosphorylation	integral to membrane	ATP binding|protein kinase activity				0										75				0.699797	1164.331079	1181.769907	345	148	KEEP	---	---	---	---	capture		Silent	SNP	42977285	42977285	14699	8	A	G	G	G	67	6	SGK196	4	4
DCAF4L2	138009	broad.mit.edu	37	8	88886032	88886032	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88886032C>G	uc003ydz.2	-	c.168G>C	c.(166-168)AGG>AGC	p.R56S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	56										ovary(1)	1														0.290323	148.206865	154.316296	45	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88886032	88886032	4443	8	C	G	G	G	389	30	DCAF4L2	3	3
KCNS2	3788	broad.mit.edu	37	8	99440859	99440859	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99440859C>A	uc003yin.2	+	c.652C>A	c.(652-654)CAG>AAG	p.Q218K		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	218	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			Pancreas(138;844 2489 9202 24627)								0.344371	148.656765	151.885628	52	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99440859	99440859	8394	8	C	A	A	A	273	21	KCNS2	2	2
ZBTB34	403341	broad.mit.edu	37	9	129642401	129642401	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:129642401G>C	uc004bqm.3	+	c.711G>C	c.(709-711)AAG>AAC	p.K237N		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.072993	-0.665304	25.031335	10	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129642401	129642401	18123	9	G	C	C	C	425	33	ZBTB34	3	3
ODF2	4957	broad.mit.edu	37	9	131262373	131262373	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131262373C>A	uc011mbd.1	+	c.2329C>A	c.(2329-2331)CAA>AAA	p.Q777K	ODF2_uc004bvb.2_Missense_Mutation_p.Q753K|ODF2_uc011mbe.1_Missense_Mutation_p.Q772K|ODF2_uc004bvc.2_Missense_Mutation_p.Q753K|ODF2_uc004bvd.3_Missense_Mutation_p.Q777K|ODF2_uc004bvh.2_Missense_Mutation_p.Q183K	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	777	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1														0.284314	73.56913	77.80958	29	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131262373	131262373	11232	9	C	A	A	A	325	25	ODF2	2	2
SETX	23064	broad.mit.edu	37	9	135203286	135203286	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135203286G>C	uc004cbk.2	-	c.3699C>G	c.(3697-3699)ATC>ATG	p.I1233M	SETX_uc004cbj.2_Missense_Mutation_p.I852M|SETX_uc010mzt.2_Missense_Mutation_p.I852M	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1233					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA binding|DNA helicase activity			ovary(2)	2		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)										0.052632	-10.936467	21.208767	8	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135203286	135203286	14630	9	G	C	C	C	577	45	SETX	3	3
NUDT2	318	broad.mit.edu	37	9	34339067	34339067	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34339067C>G	uc003zub.2	+	c.30C>G	c.(28-30)ATC>ATG	p.I10M	NUDT2_uc003zuc.2_Missense_Mutation_p.I10M|NUDT2_uc003zud.2_Missense_Mutation_p.I10M	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	10	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		Melanoma(95;1683 1957 4276 39813)								0.156977	57.930361	77.226605	27	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34339067	34339067	11142	9	C	G	G	G	408	32	NUDT2	3	3
TESK1	7016	broad.mit.edu	37	9	35607349	35607349	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35607349G>C	uc003zxa.2	+	c.563G>C	c.(562-564)CGA>CCA	p.R188P	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Intron	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	188	Protein kinase.				cell junction assembly|protein phosphorylation|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)							56				0.052632	-13.761889	22.392882	9	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35607349	35607349	16294	9	G	C	C	C	481	37	TESK1	3	3
PTPRD	5789	broad.mit.edu	37	9	8465635	8465635	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8465635T>A	uc003zkk.2	-	c.3545A>T	c.(3544-3546)TAT>TTT	p.Y1182F	PTPRD_uc003zkp.2_Missense_Mutation_p.Y771F|PTPRD_uc003zkq.2_Missense_Mutation_p.Y771F|PTPRD_uc003zkr.2_Missense_Mutation_p.Y766F|PTPRD_uc003zks.2_Missense_Mutation_p.Y761F|PTPRD_uc003zkl.2_Missense_Mutation_p.Y1173F|PTPRD_uc003zkm.2_Missense_Mutation_p.Y1169F|PTPRD_uc003zkn.2_Missense_Mutation_p.Y771F|PTPRD_uc003zko.2_Missense_Mutation_p.Y768F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1182	Extracellular (Potential).	Cleavage (Probable).			transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.24	30.480115	33.561713	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8465635	8465635	13256	9	T	A	A	A	637	49	PTPRD	3	3
SHC3	53358	broad.mit.edu	37	9	91660680	91660680	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:91660680C>A	uc004aqg.2	-	c.1182G>T	c.(1180-1182)CAG>CAT	p.Q394H		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	394	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4														0.159574	25.351701	35.748687	15	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91660680	91660680	14764	9	C	A	A	A	363	28	SHC3	2	2
BICD2	23299	broad.mit.edu	37	9	95481798	95481798	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95481798G>A	uc004asp.1	-	c.1129C>T	c.(1129-1131)CGG>TGG	p.R377W	BICD2_uc004aso.1_Missense_Mutation_p.R377W	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 1	377	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1														0.241379	15.411934	17.181136	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95481798	95481798	1454	9	G	A	A	A	493	38	BICD2	1	1
C9orf3	84909	broad.mit.edu	37	9	97555120	97555120	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:97555120G>C	uc004ava.2	+	c.1038G>C	c.(1036-1038)TGG>TGC	p.W346C	C9orf3_uc004aux.1_Missense_Mutation_p.W346C|C9orf3_uc004auy.2_Missense_Mutation_p.W346C|C9orf3_uc004auz.1_Missense_Mutation_p.W346C	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	346					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)										0.075362	7.888404	71.68533	26	319	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97555120	97555120	2592	9	G	C	C	C	533	41	C9orf3	3	3
ZNF782	158431	broad.mit.edu	37	9	99581987	99581987	+	Silent	SNP	G	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:99581987G>A	uc004awp.1	-	c.318C>T	c.(316-318)TTC>TTT	p.F106F	ZNF782_uc011lup.1_5'UTR	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)												0.128205	7.246801	12.500969	5	34	KEEP	---	---	---	---	capture		Silent	SNP	99581987	99581987	18753	9	G	A	A	A	581	45	ZNF782	2	2
GPRASP1	9737	broad.mit.edu	37	X	101909099	101909099	+	Silent	SNP	A	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101909099A>C	uc004ejj.3	+	c.258A>C	c.(256-258)TCA>TCC	p.S86S	GPRASP1_uc004eji.3_Silent_p.S86S|GPRASP1_uc010nod.2_Silent_p.S86S	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	86						cytoplasm	protein binding			ovary(1)|lung(1)	2														0.061033	-12.822011	30.243094	13	200	KEEP	---	---	---	---	capture		Silent	SNP	101909099	101909099	6998	23	A	C	C	C	67	6	GPRASP1	4	4
DCAF12L1	139170	broad.mit.edu	37	X	125685831	125685831	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125685831G>T	uc004eul.2	-	c.761C>A	c.(760-762)CCC>CAC	p.P254H		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	254										skin(3)	3														0.234043	24.299793	27.345274	11	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125685831	125685831	4435	23	G	T	T	T	559	43	DCAF12L1	2	2
GPR112	139378	broad.mit.edu	37	X	135433623	135433623	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135433623G>C	uc004ezu.1	+	c.6745G>C	c.(6745-6747)GAA>CAA	p.E2249Q	GPR112_uc010nsb.1_Missense_Mutation_p.E2044Q|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2249	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.125	5.807344	9.104627	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135433623	135433623	6903	23	G	C	C	C	585	45	GPR112	3	3
MAGEA8	4107	broad.mit.edu	37	X	149013194	149013194	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149013194C>A	uc004fdw.1	+	c.148C>A	c.(148-150)CTT>ATT	p.L50I		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	50											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.592593	49.402058	49.603762	16	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149013194	149013194	9550	23	C	A	A	A	312	24	MAGEA8	2	2
CD99	4267	broad.mit.edu	37	X	2640679	2640679	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2640679G>T	uc004cqm.2	+	c.274G>T	c.(274-276)GAT>TAT	p.D92Y	CD99_uc010nda.2_Missense_Mutation_p.D76Y|CD99_uc004cqn.2_Non-coding_Transcript|CD99_uc004cqo.2_Missense_Mutation_p.D92Y	NM_002414	NP_002405	P14209	CD99_HUMAN	CD99 antigen isoform a precursor	92	Extracellular (Potential).				cell adhesion	cytoplasm|integral to plasma membrane				skin(1)	1														0.457516	206.724696	206.966217	70	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2640679	2640679	3178	23	G	T	T	T	429	33	CD99	2	2
DMD	1756	broad.mit.edu	37	X	32563307	32563307	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32563307G>T	uc004dda.1	-	c.2137C>A	c.(2137-2139)CAG>AAG	p.Q713K	DMD_uc004dcz.2_Missense_Mutation_p.Q590K|DMD_uc004dcy.1_Missense_Mutation_p.Q709K|DMD_uc004ddb.1_Missense_Mutation_p.Q705K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.Q705K	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	713					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)												0.428571	36.495431	36.620068	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32563307	32563307	4760	23	G	T	T	T	598	46	DMD	2	2
PJA1	64219	broad.mit.edu	37	X	68382049	68382049	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:68382049T>G	uc004dxh.2	-	c.1033A>C	c.(1033-1035)ATG>CTG	p.M345L	PJA1_uc011mpi.1_Missense_Mutation_p.M63L|PJA1_uc004dxg.2_Missense_Mutation_p.M157L|PJA1_uc004dxi.2_Missense_Mutation_p.M290L	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	345							zinc ion binding				0														0.384615	67.38779	67.994638	20	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68382049	68382049	12385	23	T	G	G	G	663	51	PJA1	4	4
CDX4	1046	broad.mit.edu	37	X	72667133	72667133	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:72667133C>A	uc011mqk.1	+	c.44C>A	c.(43-45)CCG>CAG	p.P15Q		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Renal(35;0.156)													0.302326	35.960051	37.459281	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72667133	72667133	3313	23	C	A	A	A	299	23	CDX4	1	1
YY1	7528	broad.mit.edu	37	14	100705788	100705790	+	In_Frame_Del	DEL	CCA	-	-			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100705788_100705790delCCA	uc001ygy.1	+	c.207_209delCCA	c.(205-210)GGCCAC>GGC	p.H80del		NM_003403	NP_003394	P25490	TYY1_HUMAN	YY1 transcription factor	80	Poly-His.				negative regulation of gene-specific transcription from RNA polymerase II promoter	nuclear matrix|plasma membrane	promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding				0		Melanoma(154;0.152)												0.44			7	9		---	---	---	---	capture_indel		In_Frame_Del	DEL	100705788	100705790	18090	14	CCA	-	-	-	327	26	YY1	5	5
PHTF2	57157	broad.mit.edu	37	7	77538221	77538221	+	Frame_Shift_Del	DEL	T	-	-			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:77538221_77538221delT	uc003ugs.3	+	c.557_557delT	c.(556-558)ATTfs	p.I186fs	PHTF2_uc003ugo.3_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugp.2_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugq.3_Frame_Shift_Del_p.I148fs|PHTF2_uc010ldv.2_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugr.3_Frame_Shift_Del_p.I152fs|PHTF2_uc003ugt.3_Frame_Shift_Del_p.I152fs|PHTF2_uc003ugu.3_Frame_Shift_Del_p.I148fs|PHTF2_uc003ugv.2_Frame_Shift_Del_p.I11fs|PHTF2_uc010ldw.1_Frame_Shift_Del_p.I11fs	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1														0.43			53	70		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	77538221	77538221	12287	7	T	-	-	-	676	52	PHTF2	5	5
TBX22	50945	broad.mit.edu	37	X	79283520	79283520	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4389-01	TCGA-05-4389-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79283520_79283520delC	uc010nmg.1	+	c.894_894delC	c.(892-894)TACfs	p.Y298fs	TBX22_uc004edi.1_Frame_Shift_Del_p.Y178fs|TBX22_uc004edj.1_Frame_Shift_Del_p.Y298fs	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	298					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				0.36			35	63		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	79283520	79283520	16184	23	C	-	-	-	233	18	TBX22	5	5
