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
CUTC	51076	broad.mit.edu	37	10	101514311	101514311	+	Silent	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101514311A>T	uc001kqd.3	+	c.627A>T	c.(625-627)CTA>CTT	p.L209L	CUTC_uc001kqe.3_Non-coding_Transcript	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	209					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)										0.281385	175.687252	185.602417	65	166	KEEP	---	---	---	---	capture		Silent	SNP	101514311	101514311	4223	10	A	T	T	T	171	14	CUTC	3	3
SLK	9748	broad.mit.edu	37	10	105767963	105767963	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105767963T>G	uc001kxo.1	+	c.2633T>G	c.(2632-2634)ATT>AGT	p.I878S	SLK_uc001kxp.1_Missense_Mutation_p.I878S	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	878	Potential.|UVR.				apoptosis|nucleotide-excision repair|protein phosphorylation	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|lung(1)|kidney(1)	4		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		NSCLC(111;540 1651 1927 4474 17706)				837				0.2625	120.98649	129.144157	42	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105767963	105767963	15246	10	T	G	G	G	676	52	SLK	4	4
USP6NL	9712	broad.mit.edu	37	10	11505366	11505366	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11505366C>A	uc001iks.1	-	c.1612G>T	c.(1612-1614)GGT>TGT	p.G538C	USP6NL_uc001ikt.3_Missense_Mutation_p.G521C	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 2	521						intracellular	Rab GTPase activator activity				0														0.255102	61.127016	66.460971	25	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11505366	11505366	17651	10	C	A	A	A	312	24	USP6NL	2	2
ECHDC3	79746	broad.mit.edu	37	10	11797576	11797576	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11797576G>T	uc001ikw.3	+	c.560G>T	c.(559-561)GGG>GTG	p.G187V	ECHDC3_uc009xix.2_Missense_Mutation_p.G56V	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl Coenzyme A hydratase domain containing 3	187						mitochondrion	catalytic activity				0														0.272727	14.738855	15.764445	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11797576	11797576	5082	10	G	T	T	T	559	43	ECHDC3	2	2
UPF2	26019	broad.mit.edu	37	10	11971905	11971905	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11971905C>A	uc001ila.2	-	c.3768G>T	c.(3766-3768)AAG>AAT	p.K1256N	UPF2_uc001ilb.2_Missense_Mutation_p.K1256N|UPF2_uc001ilc.2_Missense_Mutation_p.K1256N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1256	Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)												0.245098	59.815574	65.861356	25	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11971905	11971905	17564	10	C	A	A	A	311	24	UPF2	2	2
KNDC1	85442	broad.mit.edu	37	10	135027499	135027499	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135027499C>A	uc001llz.1	+	c.4550C>A	c.(4549-4551)TCG>TAG	p.S1517*		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1517	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					ovary(1)	1		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)										0.258065	21.084915	22.729804	8	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	135027499	135027499	8740	10	C	A	A	A	403	31	KNDC1	5	1
FAM171A1	221061	broad.mit.edu	37	10	15255757	15255757	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15255757C>A	uc001iob.2	-	c.1830G>T	c.(1828-1830)GAG>GAT	p.E610D		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	610	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)	3														0.315789	31.488093	32.634118	12	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15255757	15255757	5695	10	C	A	A	A	415	32	FAM171A1	2	2
ITGA8	8516	broad.mit.edu	37	10	15714633	15714633	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15714633G>A	uc001ioc.1	-	c.792C>T	c.(790-792)GAC>GAT	p.D264D	ITGA8_uc010qcb.1_Silent_p.D264D	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	264	Extracellular (Potential).|FG-GAP 4.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.15625	24.96099	35.792993	15	81	KEEP	---	---	---	---	capture		Silent	SNP	15714633	15714633	8186	10	G	A	A	A	620	48	ITGA8	2	2
CUBN	8029	broad.mit.edu	37	10	17024634	17024634	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17024634T>A	uc001ioo.2	-	c.4544A>T	c.(4543-4545)CAG>CTG	p.Q1515L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1515	CUB 10.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.145161	15.644593	23.146285	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17024634	17024634	4211	10	T	A	A	A	715	55	CUBN	3	3
NEBL	10529	broad.mit.edu	37	10	21147170	21147170	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21147170C>A	uc001iqi.2	-	c.902G>T	c.(901-903)GGC>GTC	p.G301V	NEBL_uc001iqj.2_Non-coding_Transcript|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	301	Nebulin 8.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2														0.294118	39.805065	41.739659	15	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21147170	21147170	10702	10	C	A	A	A	338	26	NEBL	2	2
MLLT10	8028	broad.mit.edu	37	10	21959419	21959419	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21959419G>A	uc001iqs.2	+	c.837G>A	c.(835-837)TTG>TTA	p.L279L	MLLT10_uc001iqt.2_Silent_p.L279L|MLLT10_uc001iqv.2_Non-coding_Transcript|MLLT10_uc001iqy.2_Silent_p.L279L|MLLT10_uc001ira.2_5'UTR|MLLT10_uc001iqz.2_Silent_p.L34L	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	279	Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1										395				0.146341	9.122657	14.052888	6	35	KEEP	---	---	---	---	capture		Silent	SNP	21959419	21959419	10016	10	G	A	A	A	581	45	MLLT10	2	2
ZMYND11	10771	broad.mit.edu	37	10	226021	226021	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:226021G>T	uc010pzt.1	+	c.69G>T	c.(67-69)GAG>GAT	p.E23D	ZMYND11_uc001ifk.2_Missense_Mutation_p.E23D|ZMYND11_uc010pzu.1_Missense_Mutation_p.E23D|ZMYND11_uc010pzv.1_Missense_Mutation_p.E23D|ZMYND11_uc010pzw.1_Missense_Mutation_p.E23D|ZMYND11_uc001ifm.2_Missense_Mutation_p.E23D|ZMYND11_uc010pzx.1_Missense_Mutation_p.E23D|ZMYND11_uc001ifn.2_Missense_Mutation_p.E23D|ZMYND11_uc009xhg.2_5'UTR	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	483	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)										0.22695	72.616973	82.276169	32	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226021	226021	18297	10	G	T	T	T	425	33	ZMYND11	2	2
ENKUR	219670	broad.mit.edu	37	10	25279523	25279523	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25279523G>T	uc001isg.1	-	c.463C>A	c.(463-465)CCT>ACT	p.P155T	ENKUR_uc001ish.1_Missense_Mutation_p.P93T	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	155						cilium|flagellum	calmodulin binding|SH3 domain binding				0														0.142857	13.760005	20.645409	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25279523	25279523	5313	10	G	T	T	T	572	44	ENKUR	2	2
ZNF438	220929	broad.mit.edu	37	10	31134132	31134132	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31134132C>A	uc010qdz.1	-	c.2245G>T	c.(2245-2247)GGA>TGA	p.G749*	ZNF438_uc001ivn.2_Nonsense_Mutation_p.G700*|ZNF438_uc010qdy.1_Nonsense_Mutation_p.G739*|ZNF438_uc001ivo.3_Nonsense_Mutation_p.G313*|ZNF438_uc009xlg.2_Nonsense_Mutation_p.G749*|ZNF438_uc001ivp.3_Nonsense_Mutation_p.G739*|ZNF438_uc010qea.1_Nonsense_Mutation_p.G749*|ZNF438_uc010qeb.1_Nonsense_Mutation_p.G749*	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)												0.304348	69.938313	73.097817	28	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31134132	31134132	18503	10	C	A	A	A	312	24	ZNF438	5	2
CHAT	1103	broad.mit.edu	37	10	50859935	50859935	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50859935T>A	uc001jhz.2	+	c.1517T>A	c.(1516-1518)GTA>GAA	p.V506E	CHAT_uc001jhv.1_Missense_Mutation_p.V388E|CHAT_uc001jhx.1_Missense_Mutation_p.V388E|CHAT_uc001jhy.1_Missense_Mutation_p.V388E|CHAT_uc001jia.2_Missense_Mutation_p.V388E|CHAT_uc010qgs.1_Missense_Mutation_p.V388E	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	506			V -> L (in CMSEA; impaired activity).		neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)									0.307692	32.786585	34.071657	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50859935	50859935	3447	10	T	A	A	A	741	57	CHAT	3	3
EGR2	1959	broad.mit.edu	37	10	64573954	64573954	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64573954G>A	uc010qio.1	-	c.483C>T	c.(481-483)CCC>CCT	p.P161P	EGR2_uc010qim.1_Silent_p.P148P|EGR2_uc010qin.1_Silent_p.P98P|EGR2_uc001jmi.2_Silent_p.P148P|EGR2_uc009xph.2_Silent_p.P148P	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	early growth response 2 protein isoform b	148					fat cell differentiation|gene-specific transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)													0.137931	13.666718	21.014722	8	50	KEEP	---	---	---	---	capture		Silent	SNP	64573954	64573954	5161	10	G	A	A	A	548	43	EGR2	2	2
NDST2	8509	broad.mit.edu	37	10	75567205	75567205	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75567205C>T	uc001jvk.2	-	c.942G>A	c.(940-942)TTG>TTA	p.L314L	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.L191L|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.L191L	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	314	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)													0.182927	28.393905	36.126016	15	67	KEEP	---	---	---	---	capture		Silent	SNP	75567205	75567205	10655	10	C	T	T	T	272	21	NDST2	2	2
IDE	3416	broad.mit.edu	37	10	94246967	94246967	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94246967G>A	uc001kia.2	-	c.1642C>T	c.(1642-1644)CCT>TCT	p.P548S	IDE_uc010qnp.1_5'UTR|IDE_uc001khz.2_5'UTR	NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	548					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.215686	26.897957	30.701464	11	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94246967	94246967	7793	10	G	A	A	A	559	43	IDE	2	2
PIK3AP1	118788	broad.mit.edu	37	10	98469658	98469658	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98469658C>A	uc001kmq.2	-	c.96G>T	c.(94-96)CTG>CTT	p.L32L		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	32						cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)										0.153846	11.128697	15.593461	6	33	KEEP	---	---	---	---	capture		Silent	SNP	98469658	98469658	12332	10	C	A	A	A	210	17	PIK3AP1	2	2
CNTN5	53942	broad.mit.edu	37	11	100095485	100095485	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100095485G>T	uc001pga.2	+	c.1946G>T	c.(1945-1947)GGC>GTC	p.G649V	CNTN5_uc009ywv.1_Missense_Mutation_p.G649V|CNTN5_uc001pfz.2_Missense_Mutation_p.G649V|CNTN5_uc001pgb.2_Missense_Mutation_p.G575V|CNTN5_uc010ruk.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	649	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)						1117				0.241935	34.093025	37.860405	15	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100095485	100095485	3782	11	G	T	T	T	546	42	CNTN5	2	2
MMP13	4322	broad.mit.edu	37	11	102819851	102819851	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102819851C>A	uc001phl.2	-	c.954G>T	c.(952-954)GCG>GCT	p.A318A		NM_002427	NP_002418	P45452	MMP13_HUMAN	matrix metalloproteinase 13 preproprotein	318	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)										0.166667	25.951363	33.459097	12	60	KEEP	---	---	---	---	capture		Silent	SNP	102819851	102819851	10042	11	C	A	A	A	288	23	MMP13	1	1
DYNC2H1	79659	broad.mit.edu	37	11	103018511	103018511	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103018511G>C	uc001phn.1	+	c.2713G>C	c.(2713-2715)GTA>CTA	p.V905L	DYNC2H1_uc001pho.2_Missense_Mutation_p.V905L|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	905	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)										0.175	16.59989	20.584963	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103018511	103018511	5032	11	G	C	C	C	572	44	DYNC2H1	3	3
ELMOD1	55531	broad.mit.edu	37	11	107506376	107506376	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:107506376T>A	uc010rvs.1	+	c.305T>A	c.(304-306)CTT>CAT	p.L102H	ELMOD1_uc001pjm.2_Missense_Mutation_p.L102H|ELMOD1_uc010rvt.1_Missense_Mutation_p.L96H	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	102					phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)										0.191919	41.164391	49.944333	19	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107506376	107506376	5260	11	T	A	A	A	728	56	ELMOD1	3	3
TRIM29	23650	broad.mit.edu	37	11	120008093	120008093	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120008093G>T	uc001pwz.2	-	c.647C>A	c.(646-648)CCC>CAC	p.P216H	TRIM29_uc001pxa.2_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	216					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)	3		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)										0.096774	2.00519	7.053052	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120008093	120008093	17047	11	G	T	T	T	559	43	TRIM29	2	2
ASAM	79827	broad.mit.edu	37	11	122954456	122954456	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122954456A>T	uc001pyt.2	-	c.488T>A	c.(487-489)GTG>GAG	p.V163E		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	163	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)										0.111111	4.275365	9.657019	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122954456	122954456	1027	11	A	T	T	T	78	6	ASAM	3	3
CCDC15	80071	broad.mit.edu	37	11	124857980	124857980	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124857980C>G	uc001qbm.3	+	c.1858C>G	c.(1858-1860)CAG>GAG	p.Q620E		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	620										ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)										0.180952	83.917242	104.014209	38	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124857980	124857980	2904	11	C	G	G	G	273	21	CCDC15	3	3
PKNOX2	63876	broad.mit.edu	37	11	125255525	125255525	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125255525C>T	uc001qbu.2	+	c.306C>T	c.(304-306)TCC>TCT	p.S102S	PKNOX2_uc010saz.1_Silent_p.S73S|PKNOX2_uc010sba.1_Silent_p.S73S|PKNOX2_uc010sbb.1_Silent_p.S38S	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	102						nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)										0.134615	23.405986	36.844118	14	90	KEEP	---	---	---	---	capture		Silent	SNP	125255525	125255525	12408	11	C	T	T	T	288	23	PKNOX2	1	1
SOX6	55553	broad.mit.edu	37	11	16340026	16340026	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:16340026C>A	uc001mme.2	-	c.450G>T	c.(448-450)AAG>AAT	p.K150N	SOX6_uc001mmd.2_Missense_Mutation_p.K140N|SOX6_uc001mmf.2_Missense_Mutation_p.K137N|SOX6_uc001mmg.2_Missense_Mutation_p.K137N|SOX6_uc001mmh.1_Non-coding_Transcript|SOX6_uc009ygs.2_Non-coding_Transcript|SOX6_uc001mmi.3_Missense_Mutation_p.K137N|SOX6_uc001mmj.2_Missense_Mutation_p.K137N	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	137					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3														0.307692	81.754805	85.187194	32	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16340026	16340026	15455	11	C	A	A	A	415	32	SOX6	2	2
SLC6A5	9152	broad.mit.edu	37	11	20629090	20629090	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20629090T>C	uc001mqd.2	+	c.877T>C	c.(877-879)TAT>CAT	p.Y293H	SLC6A5_uc009yic.2_Missense_Mutation_p.Y58H	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	293	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)	3					Glycine(DB00145)									0.284615	111.122115	116.535578	37	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20629090	20629090	15184	11	T	C	C	C	689	53	SLC6A5	4	4
PRDM11	56981	broad.mit.edu	37	11	45246307	45246307	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45246307T>A	uc001myo.2	+	c.1384T>A	c.(1384-1386)TTA>ATA	p.L462I		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	462											0						NSCLC(118;1511 1736 6472 36603 43224)								0.169421	77.633904	102.660885	41	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45246307	45246307	12894	11	T	A	A	A	673	52	PRDM11	3	3
NR1H3	10062	broad.mit.edu	37	11	47281993	47281993	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47281993C>T	uc001nel.2	+	c.131C>T	c.(130-132)GCC>GTC	p.A44V	NR1H3_uc009yll.1_Missense_Mutation_p.A95V|NR1H3_uc010rhk.1_Missense_Mutation_p.A95V|NR1H3_uc001nek.2_Missense_Mutation_p.A44V|NR1H3_uc001nej.2_Missense_Mutation_p.A89V|NR1H3_uc009ylm.2_Missense_Mutation_p.A89V|NR1H3_uc001nen.3_Missense_Mutation_p.A89V|NR1H3_uc001nem.2_Missense_Mutation_p.A89V|NR1H3_uc001nep.2_5'UTR	NM_001130102	NP_001123574	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	89					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of macrophage derived foam cell differentiation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3										119				0.241935	69.857529	77.343424	30	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47281993	47281993	11023	11	C	T	T	T	338	26	NR1H3	2	2
OR52A1	23538	broad.mit.edu	37	11	5173456	5173456	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5173456C>T	uc010qyy.1	-	c.144G>A	c.(142-144)CTG>CTA	p.L48L		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A,	48	Helical; Name=1; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.266667	31.177982	33.39211	12	33	KEEP	---	---	---	---	capture		Silent	SNP	5173456	5173456	11518	11	C	T	T	T	366	29	OR52A1	2	2
OR4C16	219428	broad.mit.edu	37	11	55340087	55340087	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55340087C>A	uc010rih.1	+	c.484C>A	c.(484-486)CTG>ATG	p.L162M		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.0748)												0.254545	70.645974	76.661161	28	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55340087	55340087	11455	11	C	A	A	A	311	24	OR4C16	2	2
OR4C16	219428	broad.mit.edu	37	11	55340430	55340430	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55340430G>C	uc010rih.1	+	c.827G>C	c.(826-828)GGA>GCA	p.G276A		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.0748)												0.301887	47.780771	49.637615	16	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55340430	55340430	11455	11	G	C	C	C	533	41	OR4C16	3	3
OR4C11	219429	broad.mit.edu	37	11	55371098	55371098	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55371098G>T	uc010rii.1	-	c.752C>A	c.(751-753)CCA>CAA	p.P251Q		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.37037	30.643679	31.042109	10	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55371098	55371098	11451	11	G	T	T	T	611	47	OR4C11	2	2
OR5D14	219436	broad.mit.edu	37	11	55563784	55563784	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563784C>A	uc010rim.1	+	c.753C>A	c.(751-753)ACC>ACA	p.T251T		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.069767	-1.109476	7.107806	3	40	KEEP	---	---	---	---	capture		Silent	SNP	55563784	55563784	11565	11	C	A	A	A	262	21	OR5D14	2	2
OR5L1	219437	broad.mit.edu	37	11	55579086	55579086	+	Silent	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579086G>C	uc001nhw.1	+	c.144G>C	c.(142-144)CTG>CTC	p.L48L		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.208556	100.019279	114.730664	39	148	KEEP	---	---	---	---	capture		Silent	SNP	55579086	55579086	11580	11	G	C	C	C	574	45	OR5L1	3	3
OR5D16	390144	broad.mit.edu	37	11	55606690	55606690	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55606690G>T	uc010rio.1	+	c.463G>T	c.(463-465)GTC>TTC	p.V155F		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3		all_epithelial(135;0.208)												0.228261	50.232546	56.46203	21	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55606690	55606690	11566	11	G	T	T	T	468	36	OR5D16	2	2
OR5T2	219464	broad.mit.edu	37	11	55999935	55999935	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55999935C>A	uc010rjc.1	-	c.727G>T	c.(727-729)GGC>TGC	p.G243C		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	243	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.223077	66.751689	75.888853	29	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55999935	55999935	11592	11	C	A	A	A	286	22	OR5T2	2	2
OR8J1	219477	broad.mit.edu	37	11	56127956	56127956	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56127956C>A	uc010rjh.1	+	c.234C>A	c.(232-234)GCC>GCA	p.A78A		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	78	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.188679	39.960833	49.558999	20	86	KEEP	---	---	---	---	capture		Silent	SNP	56127956	56127956	11652	11	C	A	A	A	275	22	OR8J1	2	2
TMX2	51075	broad.mit.edu	37	11	57505860	57505860	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57505860G>C	uc001nlc.1	+	c.399G>C	c.(397-399)ATG>ATC	p.M133I	CTNND1_uc001nlf.1_Intron|TMX2_uc001nld.1_Missense_Mutation_p.M39I|TMX2_uc001nle.1_Missense_Mutation_p.M95I|C11orf31_uc010rjx.1_5'Flank	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	thioredoxin domain containing 14 isoform 1	133	Cytoplasmic (Potential).|Thioredoxin.				cell redox homeostasis	integral to membrane					0														0.189781	59.765496	72.098687	26	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57505860	57505860	16808	11	G	C	C	C	611	47	TMX2	3	3
OR56A3	390083	broad.mit.edu	37	11	5969402	5969402	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5969402G>T	uc010qzt.1	+	c.826G>T	c.(826-828)GTG>TTG	p.V276L		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	276	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.222222	67.050034	75.98239	28	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5969402	5969402	11544	11	G	T	T	T	624	48	OR56A3	2	2
MS4A1	931	broad.mit.edu	37	11	60233577	60233577	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60233577G>T	uc001npp.2	+	c.520G>T	c.(520-522)GAG>TAG	p.E174*	MS4A1_uc001npq.2_Nonsense_Mutation_p.E174*|MS4A1_uc009yna.2_Nonsense_Mutation_p.E174*|MS4A1_uc009ymz.2_Nonsense_Mutation_p.E174*|MS4A1_uc010rlc.1_Intron	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member	174	Epitope 3 (recognized by antibodies, including Rituximab).				B cell activation|immune response	integral to plasma membrane				ovary(3)	3					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)									0.235294	66.737475	74.36555	28	91	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	60233577	60233577	10247	11	G	T	T	T	585	45	MS4A1	5	2
C11orf9	745	broad.mit.edu	37	11	61544844	61544844	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61544844C>A	uc001nsc.1	+	c.1699C>A	c.(1699-1701)CCG>ACG	p.P567T	C11orf9_uc001nse.1_Missense_Mutation_p.P558T|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	567					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1														0.444444	22.815568	22.86035	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61544844	61544844	1711	11	C	A	A	A	338	26	C11orf9	2	2
AHNAK	79026	broad.mit.edu	37	11	62287506	62287506	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62287506C>T	uc001ntl.2	-	c.14383G>A	c.(14383-14385)GGA>AGA	p.G4795R	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4795					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.174757	80.872882	101.428597	36	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62287506	62287506	417	11	C	T	T	T	312	24	AHNAK	2	2
ZBTB3	79842	broad.mit.edu	37	11	62520433	62520433	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62520433G>T	uc001nuz.2	-	c.854C>A	c.(853-855)TCT>TAT	p.S285Y		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	285	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2														0.0625	-3.215592	6.360743	3	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62520433	62520433	18120	11	G	T	T	T	429	33	ZBTB3	2	2
NPAS4	266743	broad.mit.edu	37	11	66192520	66192520	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66192520C>T	uc001ohx.1	+	c.2159C>T	c.(2158-2160)CCA>CTA	p.P720L	NPAS4_uc010rpc.1_Missense_Mutation_p.P510L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	720					transcription, DNA-dependent		DNA binding|signal transducer activity				0														0.25	28.569038	31.303731	12	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66192520	66192520	10969	11	C	T	T	T	273	21	NPAS4	2	2
DCHS1	8642	broad.mit.edu	37	11	6646566	6646566	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6646566G>A	uc001mem.1	-	c.7009C>T	c.(7009-7011)CTG>TTG	p.L2337L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2337	Cadherin 22.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.204082	21.854761	25.814243	10	39	KEEP	---	---	---	---	capture		Silent	SNP	6646566	6646566	4458	11	G	A	A	A	451	35	DCHS1	2	2
OR2D2	120776	broad.mit.edu	37	11	6913634	6913634	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6913634C>A	uc010rau.1	-	c.98G>T	c.(97-99)GGT>GTT	p.G33V		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.256757	48.790627	52.762045	19	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6913634	6913634	11400	11	C	A	A	A	234	18	OR2D2	2	2
ODZ4	26011	broad.mit.edu	37	11	78380201	78380201	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78380201G>C	uc001ozl.3	-	c.7189C>G	c.(7189-7191)CAG>GAG	p.Q2397E	ODZ4_uc001ozk.3_Missense_Mutation_p.Q622E|ODZ4_uc009yvb.1_Missense_Mutation_p.Q981E	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2397	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.142857	12.538333	17.685818	6	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78380201	78380201	11242	11	G	C	C	C	585	45	ODZ4	3	3
RAB30	27314	broad.mit.edu	37	11	82698677	82698677	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82698677G>A	uc001ozu.2	-	c.313C>T	c.(313-315)CGG>TGG	p.R105W	RAB30_uc009yve.2_Missense_Mutation_p.R103W|RAB30_uc010rst.1_Missense_Mutation_p.R103W|RAB30_uc001ozv.2_Missense_Mutation_p.R103W|RAB30_uc009yvg.1_Missense_Mutation_p.R75W	NM_014488	NP_055303	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	105					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity				0														0.135135	15.240161	24.754315	10	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82698677	82698677	13378	11	G	A	A	A	493	38	RAB30	1	1
FAT3	120114	broad.mit.edu	37	11	92577580	92577580	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92577580G>A	uc001pdj.3	+	c.11047G>A	c.(11047-11049)GAC>AAC	p.D3683N	FAT3_uc001pdi.3_Missense_Mutation_p.D123N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3683	Extracellular (Potential).				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)			0.185185	9.484049	11.975344	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92577580	92577580	5927	11	G	A	A	A	533	41	FAT3	2	2
FOLR4	390243	broad.mit.edu	37	11	94040590	94040590	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94040590G>A	uc010rud.1	+	c.464G>A	c.(463-465)GGG>GAG	p.G155E		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	162						extracellular region	folic acid binding|receptor activity			ovary(1)	1														0.190476	32.319836	39.792861	16	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94040590	94040590	6226	11	G	A	A	A	559	43	FOLR4	2	2
FUT4	2526	broad.mit.edu	37	11	94278601	94278601	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94278601G>A	uc001pez.2	+	c.1302G>A	c.(1300-1302)GGG>GGA	p.G434G	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	fucosyltransferase 4	434	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.235294	9.44922	10.499209	4	13	KEEP	---	---	---	---	capture		Silent	SNP	94278601	94278601	6357	11	G	A	A	A	548	43	FUT4	2	2
ANO4	121601	broad.mit.edu	37	12	101504194	101504194	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101504194G>A	uc010svm.1	+	c.2162G>A	c.(2161-2163)GGA>GAA	p.G721E	ANO4_uc001thw.2_Missense_Mutation_p.G686E|ANO4_uc001thx.2_Missense_Mutation_p.G721E|ANO4_uc001thy.2_Missense_Mutation_p.G241E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	721	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(4)	4														0.282051	29.511984	31.174365	11	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101504194	101504194	707	12	G	A	A	A	533	41	ANO4	2	2
SLC5A8	160728	broad.mit.edu	37	12	101577935	101577935	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101577935G>A	uc001thz.3	-	c.1029C>T	c.(1027-1029)GCC>GCT	p.A343A		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	343	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						GBM(60;420 1056 13605 22380 47675)								0.206349	32.738271	37.774985	13	50	KEEP	---	---	---	---	capture		Silent	SNP	101577935	101577935	15168	12	G	A	A	A	444	35	SLC5A8	2	2
CLEC9A	283420	broad.mit.edu	37	12	10218182	10218182	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10218182C>A	uc001qxa.2	+	c.677C>A	c.(676-678)ACG>AAG	p.T226K		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	226	Extracellular (Potential).|C-type lectin.					integral to membrane	receptor activity|sugar binding			ovary(1)	1														0.311828	87.048217	89.976223	29	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10218182	10218182	3660	12	C	A	A	A	247	19	CLEC9A	1	1
POLE	5426	broad.mit.edu	37	12	133250242	133250242	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133250242C>T	uc001uks.1	-	c.1278G>A	c.(1276-1278)GCG>GCA	p.A426A	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.A399A	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	426					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)										0.173653	58.320525	75.075096	29	138	KEEP	---	---	---	---	capture		Silent	SNP	133250242	133250242	12624	12	C	T	T	T	288	23	POLE	1	1
GRIN2B	2904	broad.mit.edu	37	12	14018831	14018831	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:14018831G>T	uc001rbt.2	-	c.312C>A	c.(310-312)GAC>GAA	p.D104E		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	104	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.260563	93.434787	100.789883	37	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14018831	14018831	7059	12	G	T	T	T	568	44	GRIN2B	2	2
CACNA2D4	93589	broad.mit.edu	37	12	2024090	2024090	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2024090C>T	uc001qjp.2	-	c.239G>A	c.(238-240)TGG>TAG	p.W80*	CACNA2D4_uc009zds.1_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Nonsense_Mutation_p.W80*	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	80	Extracellular (Potential).				response to stimulus|visual perception	integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		Colon(2;101 179 21030 23310 28141)								0.155556	13.694719	18.794176	7	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2024090	2024090	2667	12	C	T	T	T	273	21	CACNA2D4	5	2
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.35	20.219293	20.616181	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
PTHLH	5744	broad.mit.edu	37	12	28116330	28116330	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:28116330C>T	uc001rik.2	-	c.475G>A	c.(475-477)GGG>AGG	p.G159R	PTHLH_uc001ril.2_Missense_Mutation_p.G159R|PTHLH_uc001rim.2_Missense_Mutation_p.G159R|PTHLH_uc001rin.2_Missense_Mutation_p.G159R	NM_198966	NP_945317	P12272	PTHR_HUMAN	parathyroid hormone-like hormone isoform 1	159					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)													0.495798	188.326703	188.328411	59	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28116330	28116330	13216	12	C	T	T	T	312	24	PTHLH	2	2
OVCH1	341350	broad.mit.edu	37	12	29614890	29614890	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29614890C>A	uc001rix.1	-	c.2177G>T	c.(2176-2178)AGA>ATA	p.R726I		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	726	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.525822	330.068479	330.190967	112	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29614890	29614890	11736	12	C	A	A	A	416	32	OVCH1	2	2
FAM186B	84070	broad.mit.edu	37	12	49994658	49994658	+	Silent	SNP	C	T	T	rs74086906	by1000genomes	TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49994658C>T	uc001ruo.2	-	c.765G>A	c.(763-765)AGG>AGA	p.R255R	FAM186B_uc010smk.1_Silent_p.R165R	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	255						protein complex				ovary(1)	1														0.508333	188.009319	188.017965	61	59	KEEP	---	---	---	---	capture		Silent	SNP	49994658	49994658	5722	12	C	T	T	T	389	30	FAM186B	2	2
KRT6A	3853	broad.mit.edu	37	12	52884506	52884506	+	Missense_Mutation	SNP	C	A	A	rs35052919		TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52884506C>A	uc001sam.2	-	c.924G>T	c.(922-924)CAG>CAT	p.Q308H		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	308	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)	4				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.397436	172.408251	173.846116	62	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52884506	52884506	8795	12	C	A	A	A	415	32	KRT6A	2	2
KRT1	3848	broad.mit.edu	37	12	53071142	53071142	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53071142G>T	uc001sau.1	-	c.1086C>A	c.(1084-1086)GCC>GCA	p.A362A	KRT1_uc001sav.1_Silent_p.A362A	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	362	Rod.|Coil 2.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)	1														0.515152	107.150123	107.16325	34	32	KEEP	---	---	---	---	capture		Silent	SNP	53071142	53071142	8762	12	G	T	T	T	548	43	KRT1	2	2
OR6C6	283365	broad.mit.edu	37	12	55688318	55688318	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55688318G>C	uc010sph.1	-	c.699C>G	c.(697-699)AAC>AAG	p.N233K		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.313433	64.551211	66.626448	21	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55688318	55688318	11604	12	G	C	C	C	620	48	OR6C6	3	3
TMEM194A	23306	broad.mit.edu	37	12	57458497	57458497	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57458497C>T	uc001smy.2	-	c.571G>A	c.(571-573)GGG>AGG	p.G191R	TMEM194A_uc001smx.2_Missense_Mutation_p.G118R|TMEM194A_uc010sra.1_5'UTR	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	191	Helical; (Potential).					integral to membrane					0														0.390244	143.569105	144.868093	48	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57458497	57458497	16650	12	C	T	T	T	273	21	TMEM194A	2	2
STAT6	6778	broad.mit.edu	37	12	57498342	57498342	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57498342G>C	uc009zpg.2	-	c.1264C>G	c.(1264-1266)CGG>GGG	p.R422G	STAT6_uc009zpe.2_Missense_Mutation_p.R373G|STAT6_uc009zpf.2_Missense_Mutation_p.R373G|STAT6_uc001sna.2_Missense_Mutation_p.R373G|STAT6_uc010srb.1_Missense_Mutation_p.R263G|STAT6_uc010src.1_Missense_Mutation_p.R263G|STAT6_uc010srd.1_Missense_Mutation_p.R263G	NM_003153	NP_003144	P42226	STAT6_HUMAN	signal transducer and activator of transcription	373					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(2)|lung(1)	3										241				0.194444	13.999837	17.144434	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57498342	57498342	15790	12	G	C	C	C	493	38	STAT6	3	3
AGAP2	116986	broad.mit.edu	37	12	58126272	58126272	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58126272G>T	uc001spq.2	-	c.1708C>A	c.(1708-1710)CGC>AGC	p.R570S	AGAP2_uc001spp.2_Missense_Mutation_p.R570S|AGAP2_uc001spr.2_Missense_Mutation_p.R234S	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	570	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5										257				0.5	9.725869	9.725869	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58126272	58126272	370	12	G	T	T	T	494	38	AGAP2	1	1
FAM19A2	338811	broad.mit.edu	37	12	62148788	62148788	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:62148788C>A	uc001sqw.2	-	c.124G>T	c.(124-126)GGA>TGA	p.G42*	FAM19A2_uc001sqv.2_Non-coding_Transcript|FAM19A2_uc001sqx.2_Nonsense_Mutation_p.G42*|FAM19A2_uc001sqy.2_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	42						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)										0.657895	81.31198	82.172217	25	13	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	62148788	62148788	5746	12	C	A	A	A	286	22	FAM19A2	5	2
ZNF384	171017	broad.mit.edu	37	12	6788225	6788225	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6788225C>A	uc010sfh.1	-	c.191G>T	c.(190-192)GGC>GTC	p.G64V	ZNF384_uc001qpz.2_Missense_Mutation_p.G64V|ZNF384_uc001qqa.2_Missense_Mutation_p.G64V|ZNF384_uc001qqb.2_Missense_Mutation_p.G64V|ZNF384_uc001qqc.2_Missense_Mutation_p.G64V|ZNF384_uc001qqd.2_Missense_Mutation_p.G64V|ZNF384_uc001qqe.2_Missense_Mutation_p.G64V|ZNF384_uc009zew.1_5'Flank	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8										141				0.2375	87.80521	97.857216	38	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6788225	6788225	18467	12	C	A	A	A	338	26	ZNF384	2	2
PTPRB	5787	broad.mit.edu	37	12	71029628	71029628	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71029628G>A	uc001swc.3	-	c.274C>T	c.(274-276)CGA>TGA	p.R92*	PTPRB_uc001swa.3_Nonsense_Mutation_p.R92*|PTPRB_uc001swd.3_Nonsense_Mutation_p.R91*|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Nonsense_Mutation_p.R92*	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	Error:Variant_position_missing_in_P23467_after_alignment					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.4	28.042759	28.26183	10	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71029628	71029628	13253	12	G	A	A	A	506	39	PTPRB	5	1
NAV3	89795	broad.mit.edu	37	12	78362297	78362297	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78362297A>T	uc001syp.2	+	c.488_splice	c.e5-2	p.E163_splice	NAV3_uc001syo.2_Splice_Site_SNP_p.E163_splice	NM_014903	NP_055718			neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.142857	6.110675	8.691498	3	18	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	78362297	78362297	10581	12	A	T	T	T	91	7	NAV3	5	3
SLC6A15	55117	broad.mit.edu	37	12	85279821	85279821	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85279821G>C	uc001szv.2	-	c.316C>G	c.(316-318)CTA>GTA	p.L106V	SLC6A15_uc010sul.1_5'UTR|SLC6A15_uc001szy.2_Missense_Mutation_p.L106V	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	106	Helical; Name=2; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3														0.2	28.494649	33.096996	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85279821	85279821	15175	12	G	C	C	C	464	36	SLC6A15	3	3
RASSF9	9182	broad.mit.edu	37	12	86198702	86198702	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:86198702C>A	uc001taf.1	-	c.1086G>T	c.(1084-1086)AAG>AAT	p.K362N		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	362					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1														0.165803	60.873217	81.328344	32	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86198702	86198702	13554	12	C	A	A	A	311	24	RASSF9	2	2
A2M	2	broad.mit.edu	37	12	9264982	9264982	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9264982C>T	uc001qvk.1	-	c.421G>A	c.(421-423)GGG>AGG	p.G141R	A2M_uc009zgk.1_Intron	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	141					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.173077	19.741151	24.990394	9	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9264982	9264982	5	12	C	T	T	T	312	24	A2M	2	2
ANKS1B	56899	broad.mit.edu	37	12	99640282	99640282	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:99640282G>A	uc001tge.1	-	c.2117C>T	c.(2116-2118)GCA>GTA	p.A706V	ANKS1B_uc001tgf.1_Missense_Mutation_p.A286V|ANKS1B_uc001tgk.2_Missense_Mutation_p.A3V|ANKS1B_uc009ztt.1_Missense_Mutation_p.A672V	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	706						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)										0.483254	290.95663	291.007678	101	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99640282	99640282	697	12	G	A	A	A	598	46	ANKS1B	2	2
COL4A1	1282	broad.mit.edu	37	13	110839512	110839512	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110839512C>A	uc001vqw.3	-	c.1701G>T	c.(1699-1701)CCG>CCT	p.P567P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	567	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.20339	28.672022	33.486928	12	47	KEEP	---	---	---	---	capture		Silent	SNP	110839512	110839512	3827	13	C	A	A	A	288	23	COL4A1	1	1
COL4A1	1282	broad.mit.edu	37	13	110850855	110850855	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110850855G>T	uc001vqw.3	-	c.1244C>A	c.(1243-1245)CCT>CAT	p.P415H	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	415	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.166667	4.611476	6.512091	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110850855	110850855	3827	13	G	T	T	T	455	35	COL4A1	2	2
MTUS2	23281	broad.mit.edu	37	13	29855903	29855903	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29855903C>A	uc001usl.3	+	c.2737C>A	c.(2737-2739)CCC>ACC	p.P913T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	903	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.162162	11.327517	15.343288	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29855903	29855903	10359	13	C	A	A	A	234	18	MTUS2	2	2
POSTN	10631	broad.mit.edu	37	13	38143960	38143960	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38143960T>C	uc001uwo.3	-	c.2270_splice	c.e20-1	p.G757_splice	POSTN_uc010tet.1_Splice_Site_SNP_p.G258_splice|POSTN_uc001uwp.3_Splice_Site_SNP_p.G700_splice|POSTN_uc001uwr.2_Splice_Site_SNP_p.G730_splice|POSTN_uc001uwq.2_Splice_Site_SNP_p.G700_splice|POSTN_uc010teu.1_Splice_Site_SNP_p.G730_splice|POSTN_uc010tev.1_Splice_Site_SNP_p.S670_splice|POSTN_uc010tew.1_Splice_Site_SNP_p.S670_splice	NM_006475	NP_006466			periostin, osteoblast specific factor isoform 1						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)										0.212121	16.904012	19.436588	7	26	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	38143960	38143960	12688	13	T	C	C	C	689	53	POSTN	5	4
ELF1	1997	broad.mit.edu	37	13	41507924	41507924	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:41507924C>G	uc001uxs.2	-	c.1497G>C	c.(1495-1497)TTG>TTC	p.L499F	ELF1_uc010tfc.1_Missense_Mutation_p.L475F|ELF1_uc010acd.2_Missense_Mutation_p.L392F	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	499					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)										0.232323	45.493894	51.991541	23	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41507924	41507924	5244	13	C	G	G	G	272	21	ELF1	3	3
RB1	5925	broad.mit.edu	37	13	49039354	49039354	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:49039354C>G	uc001vcb.2	+	c.2339C>G	c.(2338-2340)TCA>TGA	p.S780*		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	780	Interaction with LIMD1.|Domain C; mediates interaction with E4F1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|transcription repressor activity|ubiquitin protein ligase binding			lung(93)|eye(89)|central_nervous_system(47)|bone(22)|breast(20)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|soft_tissue(8)|prostate(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	355		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			6		568	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0.179487	70.613643	85.680294	28	128	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49039354	49039354	13559	13	C	G	G	G	377	29	RB1	5	3
NEK5	341676	broad.mit.edu	37	13	52676102	52676102	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52676102G>T	uc001vge.2	-	c.859C>A	c.(859-861)CCA>ACA	p.P287T	NEK5_uc001vgf.2_Missense_Mutation_p.P287T	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	287					protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity				0		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)						495				0.232877	40.335255	45.105998	17	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52676102	52676102	10726	13	G	T	T	T	546	42	NEK5	2	2
LECT1	11061	broad.mit.edu	37	13	53277868	53277868	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53277868G>T	uc001vhf.2	-	c.867C>A	c.(865-867)AGC>AGA	p.S289R	LECT1_uc001vhg.2_Missense_Mutation_p.S288R|LECT1_uc001vhh.2_Missense_Mutation_p.S278R	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	289					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(1)	1		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)										0.195122	15.875048	19.430583	8	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53277868	53277868	9036	13	G	T	T	T	438	34	LECT1	2	2
LECT1	11061	broad.mit.edu	37	13	53282678	53282678	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53282678G>T	uc001vhf.2	-	c.782C>A	c.(781-783)CCT>CAT	p.P261H	LECT1_uc001vhg.2_Missense_Mutation_p.P261H|LECT1_uc001vhh.2_Missense_Mutation_p.P250H	NM_007015	NP_008946	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1 isoform 1	261					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				ovary(1)	1		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)										0.166667	13.401315	17.823885	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53282678	53282678	9036	13	G	T	T	T	455	35	LECT1	2	2
PCDH17	27253	broad.mit.edu	37	13	58299106	58299106	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58299106C>T	uc001vhq.1	+	c.3158C>T	c.(3157-3159)TCC>TTC	p.S1053F	PCDH17_uc010aec.1_Missense_Mutation_p.S1052F|PCDH17_uc001vhr.1_Missense_Mutation_p.S142F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1053	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.238806	39.395782	43.549884	16	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58299106	58299106	11932	13	C	T	T	T	390	30	PCDH17	2	2
LMO7	4008	broad.mit.edu	37	13	76414562	76414562	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:76414562G>T	uc001vjv.2	+	c.2814G>T	c.(2812-2814)TGG>TGT	p.W938C	LMO7_uc010thv.1_Missense_Mutation_p.W889C|LMO7_uc001vjt.1_Missense_Mutation_p.W837C|LMO7_uc010thw.1_Missense_Mutation_p.W815C|LMO7_uc001vjw.1_Missense_Mutation_p.W844C	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1223						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)										0.210526	17.377826	20.324759	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76414562	76414562	9184	13	G	T	T	T	559	43	LMO7	2	2
SLITRK5	26050	broad.mit.edu	37	13	88328537	88328537	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:88328537G>A	uc001vln.2	+	c.894G>A	c.(892-894)ACG>ACA	p.T298T	SLITRK5_uc010tic.1_Silent_p.T57T	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	298	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.192308	31.684285	38.577857	15	63	KEEP	---	---	---	---	capture		Silent	SNP	88328537	88328537	15244	13	G	A	A	A	483	38	SLITRK5	1	1
CYP46A1	10858	broad.mit.edu	37	14	100166397	100166397	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100166397G>T	uc001ygo.2	+	c.402G>T	c.(400-402)TGG>TGT	p.W134C	CYP46A1_uc001ygn.1_Missense_Mutation_p.W96C	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	134					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)												0.229167	24.608429	27.831946	11	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100166397	100166397	4347	14	G	T	T	T	546	42	CYP46A1	2	2
OR4K15	81127	broad.mit.edu	37	14	20444116	20444116	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20444116T>A	uc010tkx.1	+	c.439T>A	c.(439-441)TAT>AAT	p.Y147N		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	147	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.25	67.461915	73.815272	28	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20444116	20444116	11480	14	T	A	A	A	793	61	OR4K15	3	3
OR4N5	390437	broad.mit.edu	37	14	20612688	20612688	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20612688T>A	uc010tla.1	+	c.794T>A	c.(793-795)TTC>TAC	p.F265Y		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)										0.174419	81.721587	107.529534	45	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20612688	20612688	11489	14	T	A	A	A	806	62	OR4N5	3	3
OXA1L	5018	broad.mit.edu	37	14	23239424	23239424	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23239424G>T	uc001wgn.2	+	c.786G>T	c.(784-786)ATG>ATT	p.M262I	OXA1L_uc001wgo.2_Non-coding_Transcript|OXA1L_uc010akc.2_Missense_Mutation_p.M262I|OXA1L_uc001wgp.2_Missense_Mutation_p.M186I|OXA1L_uc001wgq.2_5'UTR	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	202					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex				central_nervous_system(1)	1	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)										0.2125	39.928015	46.0418	17	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23239424	23239424	11741	14	G	T	T	T	611	47	OXA1L	2	2
CPNE6	9362	broad.mit.edu	37	14	24542767	24542767	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24542767C>A	uc010tnv.1	+	c.393C>A	c.(391-393)GCC>GCA	p.A131A	CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wll.2_Silent_p.A76A|CPNE6_uc001wln.2_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	76	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)										0.1875	24.970692	32.298542	15	65	KEEP	---	---	---	---	capture		Silent	SNP	24542767	24542767	3954	14	C	A	A	A	275	22	CPNE6	2	2
FOXG1	2290	broad.mit.edu	37	14	29237372	29237372	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:29237372G>T	uc001wqe.2	+	c.887G>T	c.(886-888)GGC>GTC	p.G296V		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	296					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron differentiation|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|sensory cilium assembly|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(1)	3			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)										0.108108	2.273336	7.912653	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29237372	29237372	6252	14	G	T	T	T	546	42	FOXG1	2	2
LRFN5	145581	broad.mit.edu	37	14	42356412	42356412	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42356412A>T	uc001wvm.2	+	c.584A>T	c.(583-585)CAC>CTC	p.H195L	LRFN5_uc010ana.2_Missense_Mutation_p.H195L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	195	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.137931	6.479874	10.156925	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42356412	42356412	9314	14	A	T	T	T	78	6	LRFN5	3	3
TXNDC16	57544	broad.mit.edu	37	14	53010265	53010265	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:53010265C>G	uc001wzs.2	-	c.11G>C	c.(10-12)GGC>GCC	p.G4A	TXNDC16_uc010tqu.1_Missense_Mutation_p.G4A|TXNDC16_uc010aoe.2_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	4					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)													0.183673	21.554089	26.148327	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53010265	53010265	17351	14	C	G	G	G	338	26	TXNDC16	3	3
SLC35F4	341880	broad.mit.edu	37	14	58063605	58063605	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:58063605A>T	uc001xdb.1	-	c.11T>A	c.(10-12)CTA>CAA	p.L4Q	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001080455	NP_001073924	A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	4					transport	integral to membrane				ovary(2)	2														0.428571	27.873814	27.966741	9	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58063605	58063605	15088	14	A	T	T	T	195	15	SLC35F4	3	3
C14orf115	55237	broad.mit.edu	37	14	74824464	74824464	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74824464G>T	uc001xpw.3	+	c.978G>T	c.(976-978)CGG>CGT	p.R326R		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	326					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)										0.318182	37.539749	38.829933	14	30	KEEP	---	---	---	---	capture		Silent	SNP	74824464	74824464	1788	14	G	T	T	T	548	43	C14orf115	2	2
FAM164C	79696	broad.mit.edu	37	14	75537689	75537689	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75537689C>A	uc001xrh.2	+	c.413C>A	c.(412-414)GCG>GAG	p.A138E	FAM164C_uc001xri.2_Missense_Mutation_p.A138E	NM_024643	NP_078919	Q53FD0	F164C_HUMAN	chromosome 14 open reading frame 140 isoform a	138										ovary(1)	1														0.225806	148.996372	168.259693	63	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75537689	75537689	5683	14	C	A	A	A	351	27	FAM164C	1	1
KIAA1409	57578	broad.mit.edu	37	14	94007178	94007178	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94007178G>C	uc001ybv.1	+	c.993_splice	c.e10+1	p.L331_splice	KIAA1409_uc001ybs.1_Splice_Site_SNP_p.L331_splice	NM_020818	NP_065869			hypothetical protein LOC57578							integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.170732	17.699952	21.902517	7	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	94007178	94007178	8539	14	G	C	C	C	468	36	KIAA1409	5	3
VRK1	7443	broad.mit.edu	37	14	97304098	97304098	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:97304098G>T	uc001yft.2	+	c.161_splice	c.e3-1	p.A54_splice		NM_003384	NP_003375			vaccinia related kinase 1							cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)	1		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)						187				0.195652	18.846398	22.820604	9	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	97304098	97304098	17786	14	G	T	T	T	442	34	VRK1	5	2
MKRN3	7681	broad.mit.edu	37	15	23811385	23811385	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23811385G>T	uc001ywh.3	+	c.456G>T	c.(454-456)CCG>CCT	p.P152P	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.P152P	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	152						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)						79				0.571429	11.396529	11.427137	4	3	KEEP	---	---	---	---	capture		Silent	SNP	23811385	23811385	9998	15	G	T	T	T	470	37	MKRN3	1	1
NDN	4692	broad.mit.edu	37	15	23932081	23932081	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23932081G>A	uc001ywk.2	-	c.284C>T	c.(283-285)CCG>CTG	p.P95L		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	95					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										0.466667	22.122364	22.136977	7	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23932081	23932081	10646	15	G	A	A	A	507	39	NDN	1	1
RYR3	6263	broad.mit.edu	37	15	33961598	33961598	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33961598G>T	uc001zhi.2	+	c.5663G>T	c.(5662-5664)TGC>TTC	p.C1888F	RYR3_uc010bar.2_Missense_Mutation_p.C1888F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1888	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.128205	14.118385	24.606765	10	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33961598	33961598	14250	15	G	T	T	T	598	46	RYR3	2	2
CAPN3	825	broad.mit.edu	37	15	42652037	42652037	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42652037A>G	uc001zpn.1	+	c.34A>G	c.(34-36)AGG>GGG	p.R12G	CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.R12G|CAPN3_uc001zpp.1_Missense_Mutation_p.R12G	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	12					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)										0.258621	43.316458	46.365687	15	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42652037	42652037	2746	15	A	G	G	G	36	3	CAPN3	4	4
PPIP5K1	9677	broad.mit.edu	37	15	43831727	43831727	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43831727G>T	uc001zrw.2	-	c.3440C>A	c.(3439-3441)CCA>CAA	p.P1147Q	PPIP5K1_uc001zrx.1_Missense_Mutation_p.P1080Q|PPIP5K1_uc001zru.2_Missense_Mutation_p.P1122Q|PPIP5K1_uc001zry.3_Missense_Mutation_p.P1122Q|PPIP5K1_uc001zrv.2_Intron	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	histidine acid phosphatase domain containing 2A	1147					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity				0														0.210526	9.388837	10.862241	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43831727	43831727	12767	15	G	T	T	T	611	47	PPIP5K1	2	2
CASC4	113201	broad.mit.edu	37	15	44620906	44620906	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:44620906G>T	uc001ztp.2	+	c.406G>T	c.(406-408)GAA>TAA	p.E136*	CASC4_uc001ztq.2_Nonsense_Mutation_p.E136*|CASC4_uc010bdu.1_Non-coding_Transcript|CASC4_uc001zto.1_Nonsense_Mutation_p.E136*	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4 isoform a	136	Lumenal (Potential).|Potential.					integral to membrane				ovary(1)	1		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)										0.166667	9.555164	12.716428	5	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	44620906	44620906	2781	15	G	T	T	T	533	41	CASC4	5	2
SLTM	79811	broad.mit.edu	37	15	59179173	59179173	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:59179173C>A	uc002afp.2	-	c.2835_splice	c.e19+1	p.Q945_splice	SLTM_uc002afn.2_Splice_Site_SNP_p.Q487_splice|SLTM_uc002afo.2_Splice_Site_SNP_p.Q927_splice|SLTM_uc002afq.2_Splice_Site_SNP_p.Q514_splice|SLTM_uc010bgd.2_Splice_Site_SNP_p.Q514_splice	NM_024755	NP_079031			modulator of estrogen induced transcription						apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.282051	29.616698	31.276452	11	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	59179173	59179173	15252	15	C	A	A	A	234	18	SLTM	5	2
RASL12	51285	broad.mit.edu	37	15	65347321	65347321	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65347321C>A	uc002aoi.1	-	c.717G>T	c.(715-717)AAG>AAT	p.K239N	RASL12_uc002aoj.1_Missense_Mutation_p.K220N|RASL12_uc010uir.1_Missense_Mutation_p.K228N	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	RAS-like, family 12 protein	239					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			skin(1)	1												OREG0023189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.235294	9.390508	10.480596	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65347321	65347321	13544	15	C	A	A	A	363	28	RASL12	2	2
C15orf58	390637	broad.mit.edu	37	15	90784186	90784186	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90784186C>T	uc002bpc.2	+	c.46C>T	c.(46-48)CCC>TCC	p.P16S		NM_001013657	NP_001013679	Q6ZNW5	CO058_HUMAN	hypothetical protein LOC390637	16											0														0.277778	51.373963	54.570666	20	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90784186	90784186	1856	15	C	T	T	T	390	30	C15orf58	2	2
IQGAP1	8826	broad.mit.edu	37	15	91035818	91035818	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91035818C>T	uc002bpl.1	+	c.4503C>T	c.(4501-4503)GCC>GCT	p.A1501A	IQGAP1_uc010uqg.1_Silent_p.A122A	NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1501	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)											0.113924	11.722558	23.330261	9	70	KEEP	---	---	---	---	capture		Silent	SNP	91035818	91035818	8117	15	C	T	T	T	288	23	IQGAP1	1	1
RPL3L	6123	broad.mit.edu	37	16	2002894	2002894	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2002894G>A	uc002cnh.2	-	c.346C>T	c.(346-348)CGC>TGC	p.R116C		NM_005061	NP_005052	Q92901	RL3L_HUMAN	ribosomal protein L3-like	116					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome				0														0.142857	4.915332	7.492838	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2002894	2002894	14073	16	G	A	A	A	494	38	RPL3L	1	1
ACSM2B	348158	broad.mit.edu	37	16	20554515	20554515	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20554515C>A	uc002dhj.3	-	c.1351G>T	c.(1351-1353)GAT>TAT	p.D451Y	ACSM2B_uc002dhk.3_Missense_Mutation_p.D451Y|ACSM2B_uc010bwf.1_Missense_Mutation_p.D451Y	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	451					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2														0.115942	27.440752	67.688702	32	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20554515	20554515	185	16	C	A	A	A	416	32	ACSM2B	2	2
CACNG3	10368	broad.mit.edu	37	16	24372937	24372937	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24372937G>A	uc002dmf.2	+	c.701G>A	c.(700-702)CGG>CAG	p.R234Q		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	234					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)										0.217822	53.100687	60.510388	22	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24372937	24372937	2674	16	G	A	A	A	507	39	CACNG3	1	1
IL21R	50615	broad.mit.edu	37	16	27456509	27456509	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27456509G>T	uc002doq.1	+	c.697G>T	c.(697-699)GGC>TGC	p.G233C	IL21R_uc002dor.1_Missense_Mutation_p.G233C|IL21R_uc002dos.1_Missense_Mutation_p.G233C	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	233	Helical; (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)	2										423				0.25	13.065013	14.20146	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27456509	27456509	7972	16	G	T	T	T	455	35	IL21R	2	2
SULT1A1	6817	broad.mit.edu	37	16	28619881	28619881	+	Silent	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28619881A>G	uc002dqn.2	-	c.465T>C	c.(463-465)GGT>GGC	p.G155G	SULT1A1_uc002dqi.2_Silent_p.G64G|SULT1A1_uc002dqj.2_Silent_p.G64G|SULT1A1_uc002dqk.2_Silent_p.G64G|SULT1A1_uc002dql.2_Silent_p.G64G|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqo.2_Silent_p.G64G|SULT1A1_uc002dqp.2_Silent_p.G64G	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	64					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0														0.28125	19.858346	21.237133	9	23	KEEP	---	---	---	---	capture		Silent	SNP	28619881	28619881	15892	16	A	G	G	G	67	6	SULT1A1	4	4
SRCAP	10847	broad.mit.edu	37	16	30747574	30747574	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30747574G>T	uc002dze.1	+	c.6783G>T	c.(6781-6783)AAG>AAT	p.K2261N	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.K2056N	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2261	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)	3			Colorectal(24;0.198)											0.264151	34.726933	37.392022	14	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30747574	30747574	15649	16	G	T	T	T	451	35	SRCAP	2	2
ITGAM	3684	broad.mit.edu	37	16	31289293	31289293	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31289293G>A	uc002ebr.2	+	c.1219G>A	c.(1219-1221)GCT>ACT	p.A407T	ITGAM_uc002ebq.2_Missense_Mutation_p.A407T|ITGAM_uc010cam.1_Intron	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	integrin alpha M isoform 1 precursor	407	FG-GAP 4.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.421053	22.495327	22.598966	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31289293	31289293	8191	16	G	A	A	A	598	46	ITGAM	2	2
CDH11	1009	broad.mit.edu	37	16	65016088	65016088	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:65016088G>C	uc002eoi.2	-	c.1116C>G	c.(1114-1116)ATC>ATG	p.I372M	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.I372M|CDH11_uc010vin.1_Missense_Mutation_p.I246M|CDH11_uc002eok.1_Non-coding_Transcript	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	372	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(7)|ovary(2)	9		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)					p.I372I(HUT78-Tumor)	239	TSP Lung(24;0.17)			0.276243	150.887027	159.035265	50	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65016088	65016088	3226	16	G	C	C	C	421	33	CDH11	3	3
ST3GAL2	6483	broad.mit.edu	37	16	70415730	70415730	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70415730G>T	uc002eyw.2	-	c.915C>A	c.(913-915)GGC>GGA	p.G305G	ST3GAL2_uc002eyx.2_Silent_p.G305G	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	305	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)												0.151515	7.74135	11.509113	5	28	KEEP	---	---	---	---	capture		Silent	SNP	70415730	70415730	15733	16	G	T	T	T	587	46	ST3GAL2	2	2
HYDIN	54768	broad.mit.edu	37	16	71103347	71103347	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71103347G>A	uc002ezr.2	-	c.1797C>T	c.(1795-1797)TAC>TAT	p.Y599Y	HYDIN_uc010cfz.1_Silent_p.Y344Y|HYDIN_uc002ezv.2_Silent_p.Y599Y|HYDIN_uc010vmc.1_Silent_p.Y616Y|HYDIN_uc010vmd.1_Silent_p.Y626Y|HYDIN_uc002ezw.3_Silent_p.Y616Y	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	599										ovary(1)	1		Ovarian(137;0.0654)												0.236842	21.654656	24.06067	9	29	KEEP	---	---	---	---	capture		Silent	SNP	71103347	71103347	7767	16	G	A	A	A	620	48	HYDIN	2	2
GLG1	2734	broad.mit.edu	37	16	74530506	74530507	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:74530506_74530507CC>AA	uc002fcx.2	-	c.810_811GG>TT	c.(808-813)TTGGAG>TTTTAG	p.270_271LE>F*	GLG1_uc002fcy.3_Nonsense_Mutation_p.270_271LE>F*|GLG1_uc002fcw.3_Nonsense_Mutation_p.259_260LE>F*|GLG1_uc002fcz.3_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 1	270_271	Extracellular (Potential).|Cys-rich GLG1 3.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2										1034				0.128205	20.744452	36.504504	15	102	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	74530506	74530507	6704	16	CC	AA	AA	AA	390	30	GLG1	5	2
CNTNAP4	85445	broad.mit.edu	37	16	76572217	76572217	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76572217C>A	uc002fex.1	+	c.3209C>A	c.(3208-3210)TCT>TAT	p.S1070Y	CNTNAP4_uc002feu.1_Missense_Mutation_p.S1067Y|CNTNAP4_uc002fev.1_Missense_Mutation_p.S931Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.S994Y	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1067	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.327273	50.330823	51.786303	18	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76572217	76572217	3787	16	C	A	A	A	416	32	CNTNAP4	2	2
ADAMTS18	170692	broad.mit.edu	37	16	77356279	77356279	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77356279G>T	uc002ffc.3	-	c.2117C>A	c.(2116-2118)CCC>CAC	p.P706H	ADAMTS18_uc010chc.1_Missense_Mutation_p.P294H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P402H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	706	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.160494	24.585238	33.423581	13	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77356279	77356279	264	16	G	T	T	T	559	43	ADAMTS18	2	2
VAT1L	57687	broad.mit.edu	37	16	77850897	77850897	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77850897G>T	uc002ffg.1	+	c.313G>T	c.(313-315)GAG>TAG	p.E105*		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	105					oxidation-reduction process		oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1														0.184932	55.846103	69.432961	27	119	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77850897	77850897	17695	16	G	T	T	T	585	45	VAT1L	5	2
ATP2C2	9914	broad.mit.edu	37	16	84456064	84456064	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84456064C>A	uc010chj.2	+	c.693C>A	c.(691-693)AGC>AGA	p.S231R	ATP2C2_uc002fhx.2_Missense_Mutation_p.S231R|ATP2C2_uc002fhy.2_Missense_Mutation_p.S248R|ATP2C2_uc002fhz.2_Missense_Mutation_p.S80R	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	231	Cytoplasmic (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2														0.19403	24.475447	30.30111	13	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84456064	84456064	1163	16	C	A	A	A	337	26	ATP2C2	2	2
MYH4	4622	broad.mit.edu	37	17	10352228	10352228	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10352228T>A	uc002gmn.2	-	c.4318A>T	c.(4318-4320)AAT>TAT	p.N1440Y		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1440	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.212121	14.908245	17.43584	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10352228	10352228	10432	17	T	A	A	A	793	61	MYH4	3	3
SLC47A1	55244	broad.mit.edu	37	17	19458919	19458919	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19458919G>T	uc002gvx.2	+	c.655G>T	c.(655-657)GCA>TCA	p.A219S	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Missense_Mutation_p.A219S|SLC47A1_uc010vyz.1_Missense_Mutation_p.A196S|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Intron|SLC47A1_uc010vza.1_5'UTR|SLC47A1_uc010vzb.1_5'UTR|SLC47A1_uc010vzc.1_5'Flank|SNORA59B_uc002gvz.1_5'Flank	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	219	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)													0.211538	24.531962	28.507166	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19458919	19458919	15144	17	G	T	T	T	546	42	SLC47A1	2	2
NOS2	4843	broad.mit.edu	37	17	26099385	26099385	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26099385C>A	uc002gzu.2	-	c.1653G>T	c.(1651-1653)GAG>GAT	p.E551D	NOS2_uc010crh.1_Missense_Mutation_p.E551D|NOS2_uc010wab.1_Missense_Mutation_p.E551D	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	551	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|oxidation-reduction process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			ovary(1)|breast(1)	2					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)					578				0.238095	12.364156	13.68017	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26099385	26099385	10946	17	C	A	A	A	311	24	NOS2	2	2
CORO6	84940	broad.mit.edu	37	17	27943986	27943986	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27943986G>T	uc002hel.2	-	c.828C>A	c.(826-828)CCC>CCA	p.P276P	CORO6_uc002hem.2_Silent_p.P42P|CORO6_uc002hen.2_Silent_p.P42P	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	276	WD 5.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0														0.222222	24.73725	27.923318	10	35	KEEP	---	---	---	---	capture		Silent	SNP	27943986	27943986	3896	17	G	T	T	T	496	39	CORO6	1	1
ACCN1	40	broad.mit.edu	37	17	31438993	31438993	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31438993C>A	uc002hht.2	-	c.801G>T	c.(799-801)GGG>GGT	p.G267G	ACCN1_uc002hhu.2_Silent_p.G216G	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	216	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)									0.206186	41.245236	49.0108	20	77	KEEP	---	---	---	---	capture		Silent	SNP	31438993	31438993	129	17	C	A	A	A	327	26	ACCN1	2	2
FNDC8	54752	broad.mit.edu	37	17	33454109	33454109	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33454109C>A	uc002hix.2	+	c.258C>A	c.(256-258)AGC>AGA	p.S86R		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	86										ovary(2)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)										0.214286	44.892461	52.329966	21	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33454109	33454109	6216	17	C	A	A	A	324	25	FNDC8	2	2
CASC3	22794	broad.mit.edu	37	17	38319010	38319010	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38319010A>C	uc010cwt.1	+	c.641A>C	c.(640-642)GAT>GCT	p.D214A	CASC3_uc010cws.1_Missense_Mutation_p.D214A|CASC3_uc002hue.2_Missense_Mutation_p.D214A	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	214	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding			ovary(1)	1														0.147368	27.696175	39.033676	14	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38319010	38319010	2780	17	A	C	C	C	156	12	CASC3	4	4
KRT33B	3884	broad.mit.edu	37	17	39521463	39521463	+	Silent	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39521463A>G	uc002hwl.2	-	c.840T>C	c.(838-840)AAT>AAC	p.N280N		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	280	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)												0.039326	-26.217408	14.537866	7	171	KEEP	---	---	---	---	capture		Silent	SNP	39521463	39521463	8785	17	A	G	G	G	102	8	KRT33B	4	4
KRT34	3885	broad.mit.edu	37	17	39538334	39538334	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39538334G>T	uc002hwm.2	-	c.291C>A	c.(289-291)AGC>AGA	p.S97R		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	97	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)												0.210526	53.888288	62.692894	24	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39538334	39538334	8786	17	G	T	T	T	490	38	KRT34	1	1
KRT31	3881	broad.mit.edu	37	17	39550416	39550416	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39550416G>A	uc002hwn.2	-	c.1103C>T	c.(1102-1104)CCC>CTC	p.P368L	KRT31_uc010cxn.2_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	368	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)												0.148936	12.293872	17.854214	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39550416	39550416	8782	17	G	A	A	A	559	43	KRT31	2	2
STAT3	6774	broad.mit.edu	37	17	40481576	40481576	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40481576T>C	uc002hzl.1	-	c.1229A>G	c.(1228-1230)CAC>CGC	p.H410R	STAT3_uc002hzk.1_Missense_Mutation_p.H410R|STAT3_uc002hzm.1_Missense_Mutation_p.H410R|STAT3_uc010wgh.1_Missense_Mutation_p.H312R|STAT3_uc002hzn.1_Missense_Mutation_p.H410R	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	410					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)						793				0.186047	14.874355	18.848903	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40481576	40481576	15786	17	T	C	C	C	767	59	STAT3	4	4
BRCA1	672	broad.mit.edu	37	17	41244214	41244214	+	Nonsense_Mutation	SNP	C	A	A	rs80357966		TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41244214C>A	uc002ict.2	-	c.3334G>T	c.(3334-3336)GAA>TAA	p.E1112*	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Nonsense_Mutation_p.E1041*|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Nonsense_Mutation_p.E1065*|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc002icq.2_Nonsense_Mutation_p.E1112*|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Nonsense_Mutation_p.E1112*|BRCA1_uc002ide.1_Nonsense_Mutation_p.E943*|BRCA1_uc010cyy.1_Nonsense_Mutation_p.E1112*|BRCA1_uc010whs.1_Nonsense_Mutation_p.E1112*|BRCA1_uc010cyz.2_Nonsense_Mutation_p.E1065*|BRCA1_uc010cza.2_Nonsense_Mutation_p.E1086*|BRCA1_uc010wht.1_Nonsense_Mutation_p.E816*	NM_007300	NP_009231	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 2	1112					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of protein ubiquitination|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription activator activity|transcription coactivator activity|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(17)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)	45		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)						296	TCGA Ovarian(2;0.000030)			0.211111	42.172389	49.121572	19	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	41244214	41244214	1529	17	C	A	A	A	416	32	BRCA1	5	2
C1QL1	10882	broad.mit.edu	37	17	43045078	43045078	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43045078C>A	uc002ihv.2	-	c.339G>T	c.(337-339)GCG>GCT	p.A113A		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	113	Collagen-like.				locomotory behavior	collagen					0		Prostate(33;0.155)												0.428571	9.224615	9.255585	3	4	KEEP	---	---	---	---	capture		Silent	SNP	43045078	43045078	2025	17	C	A	A	A	288	23	C1QL1	1	1
CRHR1	1394	broad.mit.edu	37	17	43907806	43907806	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43907806C>A	uc010dap.2	+	c.666C>A	c.(664-666)GCC>GCA	p.A222A	CRHR1_uc010wjx.1_Silent_p.A18A|CRHR1_uc002ijp.2_Silent_p.A92A|CRHR1_uc002ijm.2_Silent_p.A193A|CRHR1_uc002ijn.2_Silent_p.A153A|CRHR1_uc010dar.2_Silent_p.A193A|CRHR1_uc010dao.2_Silent_p.A92A|CRHR1_uc010daq.2_Silent_p.A18A	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	222	Helical; Name=3; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity				0	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		Ovarian(110;57 1568 10207 38216 49865)								0.238095	10.261415	11.580711	5	16	KEEP	---	---	---	---	capture		Silent	SNP	43907806	43907806	4010	17	C	A	A	A	288	23	CRHR1	1	1
IMP5	162540	broad.mit.edu	37	17	43922523	43922523	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43922523C>A	uc010wka.1	+	c.251C>A	c.(250-252)CCC>CAC	p.P84H	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	84	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		NSCLC(24;34 1393 18470)								0.107143	3.120951	7.394181	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43922523	43922523	8022	17	C	A	A	A	286	22	IMP5	2	2
MAPT	4137	broad.mit.edu	37	17	44067401	44067401	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44067401C>T	uc010dau.2	+	c.1340C>T	c.(1339-1341)TCC>TTC	p.S447F	MAPT_uc002ijr.3_Missense_Mutation_p.S447F|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001123066	NP_001116538	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 6	447					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)												0.180723	28.673347	36.630757	15	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44067401	44067401	9680	17	C	T	T	T	390	30	MAPT	2	2
ABCC3	8714	broad.mit.edu	37	17	48742558	48742558	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48742558G>T	uc002isl.2	+	c.1383G>T	c.(1381-1383)TTG>TTT	p.L461F	ABCC3_uc002isk.3_Missense_Mutation_p.L461F	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	461	ABC transmembrane type-1 1.|Helical; Name=9; (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)					438				0.214286	64.66634	75.241391	30	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48742558	48742558	55	17	G	T	T	T	594	46	ABCC3	2	2
OR4D1	26689	broad.mit.edu	37	17	56232771	56232771	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56232771T>G	uc010wno.1	+	c.257T>G	c.(256-258)CTC>CGC	p.L86R	MSX2P1_uc002ivn.2_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.213415	72.904706	85.39341	35	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56232771	56232771	11460	17	T	G	G	G	702	54	OR4D1	4	4
EPX	8288	broad.mit.edu	37	17	56272478	56272478	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56272478G>A	uc002ivq.2	+	c.748G>A	c.(748-750)GGC>AGC	p.G250S		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	250					hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.22449	53.1172	59.940598	22	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56272478	56272478	5393	17	G	A	A	A	455	35	EPX	2	2
MKS1	54903	broad.mit.edu	37	17	56291140	56291140	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56291140G>A	uc002ivr.1	-	c.735C>T	c.(733-735)CTC>CTT	p.L245L	MKS1_uc010wnq.1_Silent_p.L42L|MKS1_uc002ivs.1_Silent_p.L245L	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	245					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1														0.266667	48.56185	52.253479	20	55	KEEP	---	---	---	---	capture		Silent	SNP	56291140	56291140	9999	17	G	A	A	A	574	45	MKS1	2	2
TEKT1	83659	broad.mit.edu	37	17	6722663	6722663	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6722663C>A	uc002gdt.2	-	c.205G>T	c.(205-207)GAA>TAA	p.E69*	TEKT1_uc010vth.1_Intron	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	69	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)	1		Myeloproliferative disorder(207;0.0255)												0.258065	17.314186	18.941617	8	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6722663	6722663	16279	17	C	A	A	A	390	30	TEKT1	5	2
TP53	7157	broad.mit.edu	37	17	7578205	7578205	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578205C>A	uc002gim.2	-	c.644G>T	c.(643-645)AGT>ATT	p.S215I	TP53_uc002gig.1_Missense_Mutation_p.S215I|TP53_uc002gih.2_Missense_Mutation_p.S215I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.S83I|TP53_uc010cng.1_Missense_Mutation_p.S83I|TP53_uc002gii.1_Missense_Mutation_p.S83I|TP53_uc010cnh.1_Missense_Mutation_p.S215I|TP53_uc010cni.1_Missense_Mutation_p.S215I|TP53_uc002gij.2_Missense_Mutation_p.S215I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.S122I|TP53_uc002gio.2_Missense_Mutation_p.S83I|TP53_uc010vug.1_Missense_Mutation_p.S176I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	215	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> R (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.S215I(14)|p.0?(6)|p.S215N(6)|p.S215fs*32(3)|p.S215T(3)|p.H214fs*5(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.C176Y(1)|p.T211_S215delTFRHS(1)|p.S215del(1)|p.S215fs*29(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.S215N(CL11-Tumor)|p.S215del(BFTC905-Tumor)|p.S215I(SNU213-Tumor)|p.S215N(SNU668-Tumor)|p.S215I(NCIH661-Tumor)|p.S215I(SNU182-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.222222	18.680512	21.236568	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578205	7578205	16923	17	C	A	A	A	260	20	TP53	2	2
CDH2	1000	broad.mit.edu	37	18	25572712	25572712	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25572712G>C	uc002kwg.2	-	c.1251C>G	c.(1249-1251)AAC>AAG	p.N417K	CDH2_uc010xbn.1_Missense_Mutation_p.N386K	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	417	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.152174	14.498764	19.822225	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25572712	25572712	3234	18	G	C	C	C	516	40	CDH2	3	3
MYOM1	8736	broad.mit.edu	37	18	3168821	3168821	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:3168821T>C	uc002klp.2	-	c.1333A>G	c.(1333-1335)AGA>GGA	p.R445G	MYOM1_uc002klq.2_Missense_Mutation_p.R445G	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	445	Ig-like C2-type 2.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.395349	50.264272	50.676815	17	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3168821	3168821	10486	18	T	C	C	C	713	55	MYOM1	4	4
INO80C	125476	broad.mit.edu	37	18	33060527	33060527	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:33060527C>A	uc010dmt.2	-	c.265G>T	c.(265-267)GGT>TGT	p.G89C	INO80C_uc002kyw.1_Missense_Mutation_p.G53C|INO80C_uc002kyx.3_5'UTR|INO80C_uc002kyy.3_Missense_Mutation_p.G53C	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Ies6-similar protein isoform 1	53						MLL1 complex					0														0.146067	19.314294	30.036663	13	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33060527	33060527	8049	18	C	A	A	A	286	22	INO80C	2	2
PIK3C3	5289	broad.mit.edu	37	18	39609346	39609346	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:39609346G>A	uc002lap.2	+	c.1648G>A	c.(1648-1650)GAT>AAT	p.D550N	PIK3C3_uc010xcl.1_Missense_Mutation_p.D487N|PIK3C3_uc002laq.2_Missense_Mutation_p.D35N	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	550					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(7)|ovary(1)	8						NSCLC(37;552 1060 2683 16430 37914)				441	TSP Lung(28;0.18)			0.208333	24.822653	28.604355	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39609346	39609346	12336	18	G	A	A	A	429	33	PIK3C3	2	2
SETBP1	26040	broad.mit.edu	37	18	42531910	42531910	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42531910A>T	uc010dni.2	+	c.2605A>T	c.(2605-2607)AGC>TGC	p.S869C		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	869						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.236364	32.447979	35.941882	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42531910	42531910	14617	18	A	T	T	T	91	7	SETBP1	3	3
PIAS2	9063	broad.mit.edu	37	18	44416466	44416467	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44416466_44416467CC>AA	uc002lck.2	-	c.1055_1056GG>TT	c.(1054-1056)AGG>ATT	p.R352I	PIAS2_uc010dnp.2_Missense_Mutation_p.R50I|PIAS2_uc002lcl.2_Missense_Mutation_p.R352I|PIAS2_uc010xda.1_Missense_Mutation_p.R50I|PIAS2_uc002lcm.2_Missense_Mutation_p.R352I|PIAS2_uc002lcn.1_Missense_Mutation_p.R356I	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	352	SP-RING-type.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(1)	1														0.171429	37.266168	47.917784	18	87	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	44416466	44416467	12300	18	CC	AA	AA	AA	337	26	PIAS2	2	2
CXXC1	30827	broad.mit.edu	37	18	47810824	47810824	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:47810824C>T	uc002ler.3	-	c.1141G>A	c.(1141-1143)GGG>AGG	p.G381R	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.G234R|CXXC1_uc002leq.3_Missense_Mutation_p.G377R|CXXC1_uc010doy.2_Missense_Mutation_p.G377R|CXXC1_uc002les.2_Missense_Mutation_p.G377R	NM_001101654	NP_001095124	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 1	377					histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|transcription activator activity|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2														0.186813	33.922057	42.286902	17	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47810824	47810824	4257	18	C	T	T	T	286	22	CXXC1	2	2
CCDC68	80323	broad.mit.edu	37	18	52604064	52604064	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:52604064C>A	uc002lfs.2	-	c.471G>T	c.(469-471)CAG>CAT	p.Q157H	CCDC68_uc002lft.2_Missense_Mutation_p.Q157H	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	157	Potential.										0				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)										0.085714	0.996247	7.086761	3	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52604064	52604064	2963	18	C	A	A	A	311	24	CCDC68	2	2
CDH20	28316	broad.mit.edu	37	18	59221602	59221602	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59221602G>T	uc010dps.1	+	c.2080G>T	c.(2080-2082)GCC>TCC	p.A694S	CDH20_uc002lif.2_Missense_Mutation_p.A688S	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	694	Cytoplasmic (Potential).			A -> G (in Ref. 1; AAG23739).	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)												0.263158	12.706905	13.645228	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59221602	59221602	3235	18	G	T	T	T	494	38	CDH20	1	1
SERPINB2	5055	broad.mit.edu	37	18	61558715	61558715	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61558715C>A	uc010xeu.1	+	c.37C>A	c.(37-39)CTC>ATC	p.L13I	SERPINB2_uc002ljo.2_Missense_Mutation_p.L13I|SERPINB2_uc010dqh.2_5'UTR	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	13					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)									0.188679	41.134211	50.752548	20	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61558715	61558715	14589	18	C	A	A	A	312	24	SERPINB2	2	2
TYMS	7298	broad.mit.edu	37	18	669136	669136	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:669136C>T	uc010dka.1	+	c.519C>T	c.(517-519)GAC>GAT	p.D173D	TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Silent_p.D90D	NM_001071	NP_001062	P04818	TYSY_HUMAN	thymidylate synthase	173					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity				0					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)									0.08284	1.877017	31.730023	14	155	KEEP	---	---	---	---	capture		Silent	SNP	669136	669136	17369	18	C	T	T	T	246	19	TYMS	1	1
UNC13A	23025	broad.mit.edu	37	19	17728601	17728601	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17728601C>A	uc002nhd.2	-	c.4732G>T	c.(4732-4734)GAC>TAC	p.D1578Y		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1490	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3														0.294118	25.435897	26.726154	10	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17728601	17728601	17542	19	C	A	A	A	390	30	UNC13A	2	2
LPAR2	9170	broad.mit.edu	37	19	19737528	19737528	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19737528T>C	uc002nnb.3	-	c.566A>G	c.(565-567)TAT>TGT	p.Y189C	LPAR2_uc002nna.3_Missense_Mutation_p.Y189C|LPAR2_uc002nnc.3_Missense_Mutation_p.Y189C	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	189	Helical; Name=5; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding				0														0.333333	10.132649	10.348757	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19737528	19737528	9278	19	T	C	C	C	637	49	LPAR2	4	4
ZNF98	148198	broad.mit.edu	37	19	22574465	22574465	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22574465G>T	uc002nqt.2	-	c.1572C>A	c.(1570-1572)GGC>GGA	p.G524G		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	524	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)												0.227273	24.926473	27.930414	10	34	KEEP	---	---	---	---	capture		Silent	SNP	22574465	22574465	18807	19	G	T	T	T	587	46	ZNF98	2	2
ARHGAP33	115703	broad.mit.edu	37	19	36272096	36272096	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36272096G>T	uc002obs.1	+	c.1027G>T	c.(1027-1029)GGG>TGG	p.G343W	ARHGAP33_uc002obr.1_Missense_Mutation_p.G343W|ARHGAP33_uc002obt.1_Missense_Mutation_p.G207W|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	343	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.097561	3.973218	10.617757	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36272096	36272096	894	19	G	T	T	T	507	39	ARHGAP33	1	1
SPTBN4	57731	broad.mit.edu	37	19	41012243	41012243	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41012243A>T	uc002ony.2	+	c.1766A>T	c.(1765-1767)GAG>GTG	p.E589V	SPTBN4_uc002onx.2_Missense_Mutation_p.E589V|SPTBN4_uc002onz.2_Missense_Mutation_p.E589V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	589	Spectrin 4.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)											0.267857	33.964008	36.721243	15	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41012243	41012243	15635	19	A	T	T	T	143	11	SPTBN4	3	3
AXL	558	broad.mit.edu	37	19	41745210	41745210	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41745210T>C	uc010ehj.2	+	c.1276T>C	c.(1276-1278)TGG>CGG	p.W426R	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.W426R|AXL_uc010ehk.2_Missense_Mutation_p.W426R	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	426	Extracellular (Potential).|Fibronectin type-III 2.				protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)	8										318				0.371795	75.300625	76.482761	29	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41745210	41745210	1259	19	T	C	C	C	715	55	AXL	4	4
ZNF283	284349	broad.mit.edu	37	19	44352078	44352078	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44352078G>T	uc002oxr.3	+	c.1325G>T	c.(1324-1326)CGT>CTT	p.R442L	ZNF283_uc002oxp.3_Missense_Mutation_p.R303L	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	442	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.265957	69.825734	74.484481	25	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44352078	44352078	18412	19	G	T	T	T	520	40	ZNF283	1	1
RCN3	57333	broad.mit.edu	37	19	50040313	50040313	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50040313G>C	uc002poj.2	+	c.469G>C	c.(469-471)GAT>CAT	p.D157H		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	157						endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)										0.178378	78.04834	96.107313	33	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50040313	50040313	13650	19	G	C	C	C	533	41	RCN3	3	3
NR1H2	7376	broad.mit.edu	37	19	50881606	50881606	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50881606G>T	uc010enw.2	+	c.382G>T	c.(382-384)GGC>TGC	p.G128C	NR1H2_uc002prv.3_Intron|NR1H2_uc002prz.3_Missense_Mutation_p.G128C|NR1H2_uc002psa.3_Intron	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	128	Nuclear receptor.|NR C4-type.				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage derived foam cell differentiation|negative regulation of pinocytosis|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of lipoprotein lipase activity|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)						464				0.15	9.328264	14.023651	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50881606	50881606	11022	19	G	T	T	T	611	47	NR1H2	2	2
SIGLEC8	27181	broad.mit.edu	37	19	51961204	51961204	+	Silent	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51961204C>G	uc002pwt.2	-	c.438G>C	c.(436-438)CTG>CTC	p.L146L	SIGLEC8_uc010yda.1_Silent_p.L146L|SIGLEC8_uc002pwu.2_Non-coding_Transcript|SIGLEC8_uc010eox.2_Silent_p.L146L	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	146	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)										0.175926	43.454721	54.151719	19	89	KEEP	---	---	---	---	capture		Silent	SNP	51961204	51961204	14809	19	C	G	G	G	210	17	SIGLEC8	3	3
PPP1R12C	54776	broad.mit.edu	37	19	55614842	55614842	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55614842C>A	uc002qix.2	-	c.666G>T	c.(664-666)CGG>CGT	p.R222R	PPP1R12C_uc010yfs.1_Silent_p.R148R|PPP1R12C_uc002qiy.2_Silent_p.R222R	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	222						cytoplasm				central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)										0.5	15.246139	15.246139	6	6	KEEP	---	---	---	---	capture		Silent	SNP	55614842	55614842	12791	19	C	A	A	A	327	26	PPP1R12C	2	2
PTPRH	5794	broad.mit.edu	37	19	55715197	55715197	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55715197T>C	uc002qjq.2	-	c.839A>G	c.(838-840)GAG>GGG	p.E280G	PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.E287G	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	280	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)	3		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)										0.187919	62.003787	75.636269	28	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55715197	55715197	13260	19	T	C	C	C	702	54	PTPRH	4	4
NLRP4	147945	broad.mit.edu	37	19	56369278	56369278	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56369278G>T	uc002qmd.3	+	c.519G>T	c.(517-519)TCG>TCT	p.S173S	NLRP4_uc002qmf.2_Silent_p.S98S|NLRP4_uc010etf.2_Silent_p.S4S	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	173	NACHT.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.245902	39.107006	42.685032	15	46	KEEP	---	---	---	---	capture		Silent	SNP	56369278	56369278	10882	19	G	T	T	T	496	39	NLRP4	1	1
NLRP4	147945	broad.mit.edu	37	19	56370504	56370504	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56370504A>C	uc002qmd.3	+	c.1745A>C	c.(1744-1746)GAC>GCC	p.D582A	NLRP4_uc002qmf.2_Missense_Mutation_p.D507A|NLRP4_uc010etf.2_Missense_Mutation_p.D413A	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	582							ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.25	27.333429	29.604074	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56370504	56370504	10882	19	A	C	C	C	130	10	NLRP4	4	4
PEG3	5178	broad.mit.edu	37	19	57328692	57328692	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57328692C>A	uc002qnu.2	-	c.1118G>T	c.(1117-1119)GGA>GTA	p.G373V	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G344V|PEG3_uc002qnv.2_Missense_Mutation_p.G373V|PEG3_uc002qnw.2_Missense_Mutation_p.G249V|PEG3_uc002qnx.2_Missense_Mutation_p.G247V|PEG3_uc010etr.2_Missense_Mutation_p.G373V	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	373					apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.285714	37.871616	40.18344	16	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57328692	57328692	12141	19	C	A	A	A	390	30	PEG3	2	2
FBN3	84467	broad.mit.edu	37	19	8173122	8173122	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8173122G>T	uc002mjf.2	-	c.4619C>A	c.(4618-4620)ACT>AAT	p.T1540N		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1540	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.180328	20.585131	26.45057	11	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8173122	8173122	5940	19	G	T	T	T	442	34	FBN3	2	2
MUC16	94025	broad.mit.edu	37	19	9006659	9006659	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9006659T>A	uc002mkp.2	-	c.39589A>T	c.(39589-39591)AGT>TGT	p.S13197C	MUC16_uc010dwi.2_Non-coding_Transcript|MUC16_uc010dwj.2_Missense_Mutation_p.S14C|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13199	SEA 8.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.237288	284.401901	317.88656	126	405	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9006659	9006659	10367	19	T	A	A	A	702	54	MUC16	3	3
OLFM3	118427	broad.mit.edu	37	1	102270053	102270053	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:102270053C>A	uc001duf.2	-	c.1178G>T	c.(1177-1179)AGT>ATT	p.S393I	OLFM3_uc001dug.2_Missense_Mutation_p.S373I|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.S298I|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	393	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)										0.195876	40.465981	48.83228	19	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102270053	102270053	11259	1	C	A	A	A	260	20	OLFM3	2	2
AMY1A	276	broad.mit.edu	37	1	104203099	104203099	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:104203099T>G	uc001duu.2	+	c.996T>G	c.(994-996)GAT>GAG	p.D332E	AMY1A_uc001duv.2_Missense_Mutation_p.D332E	NM_001008221	NP_001008222	P04745	AMY1_HUMAN	salivary amylase alpha 1A precursor	332					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		Pancreas(131;743 2392 43382 44986)								0.082609	16.088141	97.607198	38	422	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104203099	104203099	594	1	T	G	G	G	660	51	AMY1A	4	4
SARS	6301	broad.mit.edu	37	1	109766604	109766604	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109766604A>T	uc001dwv.1	+	c.141A>T	c.(139-141)AGA>AGT	p.R47S	SARS_uc001dwt.1_Missense_Mutation_p.R47S|SARS_uc001dwu.1_Missense_Mutation_p.R47S|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.R47S|SARS_uc009wfa.1_Missense_Mutation_p.R47S|SARS_uc001dwy.1_Intron	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	47					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)									0.152	30.954902	45.440394	19	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109766604	109766604	14325	1	A	T	T	T	154	12	SARS	3	3
KCND3	3752	broad.mit.edu	37	1	112524723	112524723	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:112524723G>T	uc001ebu.1	-	c.626C>A	c.(625-627)ACG>AAG	p.T209K	KCND3_uc001ebv.1_Missense_Mutation_p.T209K	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	209						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)										0.206897	12.440024	14.745677	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112524723	112524723	8325	1	G	T	T	T	520	40	KCND3	1	1
PHGDH	26227	broad.mit.edu	37	1	120277957	120277957	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120277957G>T	uc001ehz.2	+	c.683G>T	c.(682-684)GGG>GTG	p.G228V	PHGDH_uc009whm.2_Missense_Mutation_p.G126V|PHGDH_uc001eia.2_Missense_Mutation_p.G228V|PHGDH_uc009whn.2_Missense_Mutation_p.G228V|PHGDH_uc001eib.2_Missense_Mutation_p.G194V	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	228					brain development|L-serine biosynthetic process|oxidation-reduction process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)									0.131737	32.00941	53.871728	22	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120277957	120277957	12264	1	G	T	T	T	559	43	PHGDH	2	2
PRAMEF12	390999	broad.mit.edu	37	1	12835857	12835857	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12835857C>A	uc001aui.2	+	c.459C>A	c.(457-459)TTC>TTA	p.F153L		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	153										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.144068	25.312108	39.696332	17	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12835857	12835857	12864	1	C	A	A	A	376	29	PRAMEF12	2	2
LOC649330	649330	broad.mit.edu	37	1	12907980	12907980	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12907980C>T	uc009vno.2	-	c.163G>A	c.(163-165)GTT>ATT	p.V55I	HNRNPCL1_uc010obf.1_Missense_Mutation_p.V55I	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	55							nucleic acid binding|nucleotide binding				0														0.056818	-7.686776	10.456999	5	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12907980	12907980	9249	1	C	T	T	T	247	19	LOC649330	1	1
BCL9	607	broad.mit.edu	37	1	147094086	147094086	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:147094086C>G	uc001epq.2	+	c.2917C>G	c.(2917-2919)CCT>GCT	p.P973A	BCL9_uc010ozr.1_Missense_Mutation_p.P899A	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	973	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			large_intestine(2)|ovary(2)	4	all_hematologic(923;0.115)									202				0.16092	59.787928	78.831137	28	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147094086	147094086	1402	1	C	G	G	G	390	30	BCL9	3	3
FLG2	388698	broad.mit.edu	37	1	152325628	152325628	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152325628C>A	uc001ezw.3	-	c.4634G>T	c.(4633-4635)GGA>GTA	p.G1545V		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1545							calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.378505	217.515184	220.288952	81	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152325628	152325628	6161	1	C	A	A	A	390	30	FLG2	2	2
CRNN	49860	broad.mit.edu	37	1	152382377	152382377	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152382377T>C	uc001ezx.2	-	c.1181A>G	c.(1180-1182)GAG>GGG	p.E394G		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	394					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.138462	46.798727	71.441179	27	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152382377	152382377	4031	1	T	C	C	C	702	54	CRNN	4	4
LCE2A	353139	broad.mit.edu	37	1	152671551	152671551	+	Silent	SNP	C	A	A	rs61812672		TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152671551C>A	uc001faj.2	+	c.174C>A	c.(172-174)GGC>GGA	p.G58G		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	58	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.254902	29.971926	32.739105	13	38	KEEP	---	---	---	---	capture		Silent	SNP	152671551	152671551	8988	1	C	A	A	A	353	28	LCE2A	2	2
SPRR2D	6703	broad.mit.edu	37	1	153012669	153012669	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153012669G>A	uc001fbb.2	-	c.154C>T	c.(154-156)CAG>TAG	p.Q52*	SPRR2D_uc009wnz.2_Non-coding_Transcript	NM_006945	NP_008876	P22532	SPR2D_HUMAN	small proline-rich protein 2D	52					keratinization	cornified envelope|cytoplasm					0	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.35023	196.999767	201.309266	76	141	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	153012669	153012669	15613	1	G	A	A	A	598	46	SPRR2D	5	2
HCN3	57657	broad.mit.edu	37	1	155253818	155253818	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155253818C>T	uc001fjz.1	+	c.762C>T	c.(760-762)CTC>CTT	p.L254L	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	254	Helical; Name=Segment S5; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)											0.121622	22.540965	43.305493	18	130	KEEP	---	---	---	---	capture		Silent	SNP	155253818	155253818	7280	1	C	T	T	T	366	29	HCN3	2	2
ASH1L	55870	broad.mit.edu	37	1	155327184	155327184	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155327184C>T	uc009wqq.2	-	c.6993G>A	c.(6991-6993)GAG>GAA	p.E2331E	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.E2326E	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2331					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)											0.122449	16.841935	30.510012	12	86	KEEP	---	---	---	---	capture		Silent	SNP	155327184	155327184	1060	1	C	T	T	T	311	24	ASH1L	2	2
FCRL5	83416	broad.mit.edu	37	1	157512672	157512672	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157512672T>A	uc001fqu.2	-	c.1100A>T	c.(1099-1101)AAG>ATG	p.K367M	FCRL5_uc009wsm.2_Missense_Mutation_p.K367M|FCRL5_uc010phv.1_Missense_Mutation_p.K367M|FCRL5_uc010phw.1_Missense_Mutation_p.K282M|FCRL5_uc001fqv.1_Missense_Mutation_p.K367M|FCRL5_uc010phx.1_Missense_Mutation_p.K118M	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	367	Extracellular (Potential).|Ig-like C2-type 3.					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)												0.162338	43.971231	60.675356	25	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157512672	157512672	6035	1	T	A	A	A	728	56	FCRL5	3	3
FCRL3	115352	broad.mit.edu	37	1	157666024	157666024	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157666024T>A	uc001fqz.3	-	c.938A>T	c.(937-939)CAG>CTG	p.Q313L	FCRL3_uc001fqx.3_Non-coding_Transcript|FCRL3_uc001fqy.3_Non-coding_Transcript|FCRL3_uc009wsn.2_Non-coding_Transcript|FCRL3_uc009wso.2_Non-coding_Transcript|FCRL3_uc001fra.2_Missense_Mutation_p.Q39L|FCRL3_uc001frb.2_Missense_Mutation_p.Q313L|FCRL3_uc001frc.1_Missense_Mutation_p.Q313L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	313	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.299517	181.874621	189.305699	62	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157666024	157666024	6033	1	T	A	A	A	715	55	FCRL3	3	3
OR10R2	343406	broad.mit.edu	37	1	158450126	158450126	+	Silent	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158450126C>G	uc010pik.1	+	c.459C>G	c.(457-459)CCC>CCG	p.P153P		NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	153	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)	2	all_hematologic(112;0.0378)													0.326241	132.695967	136.475413	46	95	KEEP	---	---	---	---	capture		Silent	SNP	158450126	158450126	11323	1	C	G	G	G	262	21	OR10R2	3	3
OR10J3	441911	broad.mit.edu	37	1	159284105	159284105	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159284105C>A	uc010piu.1	-	c.345G>T	c.(343-345)CTG>CTT	p.L115L		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)													0.125	20.320703	37.899111	16	112	KEEP	---	---	---	---	capture		Silent	SNP	159284105	159284105	11317	1	C	A	A	A	314	25	OR10J3	2	2
DDR2	4921	broad.mit.edu	37	1	162745633	162745633	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162745633G>C	uc001gcf.2	+	c.2048G>C	c.(2047-2049)AGT>ACT	p.S683T	DDR2_uc001gcg.2_Missense_Mutation_p.S683T	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	683	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			NSCLC(161;314 2006 8283 19651 23192)				497				0.395833	147.600891	148.980079	57	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162745633	162745633	4508	1	G	C	C	C	455	35	DDR2	3	3
RGS4	5999	broad.mit.edu	37	1	163044230	163044230	+	Silent	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163044230C>G	uc001gcl.3	+	c.789C>G	c.(787-789)CGC>CGG	p.R263R	RGS4_uc009wuy.2_Silent_p.R166R|RGS4_uc009wuz.2_3'UTR|RGS4_uc009wva.2_Silent_p.R148R	NM_001102445	NP_001095915	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 1	166	RGS.				inactivation of MAPK activity|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						Ovarian(76;1257 1738 3039 6086)								0.394322	398.848807	401.933112	125	192	KEEP	---	---	---	---	capture		Silent	SNP	163044230	163044230	13781	1	C	G	G	G	327	26	RGS4	3	3
RXRG	6258	broad.mit.edu	37	1	165376126	165376126	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165376126C>G	uc001gda.2	-	c.1167G>C	c.(1165-1167)GAG>GAC	p.E389D		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	389	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)									0.113043	15.988188	32.987018	13	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165376126	165376126	14245	1	C	G	G	G	311	24	RXRG	3	3
MAEL	84944	broad.mit.edu	37	1	166973455	166973455	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166973455C>A	uc001gdy.1	+	c.562C>A	c.(562-564)CGT>AGT	p.R188S	MAEL_uc001gdz.1_Missense_Mutation_p.R157S|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	188					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1														0.306306	101.312761	105.023842	34	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166973455	166973455	9531	1	C	A	A	A	247	19	MAEL	1	1
BAT2L2	23215	broad.mit.edu	37	1	171509980	171509980	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171509980C>T	uc010pmg.1	+	c.3369C>T	c.(3367-3369)AAC>AAT	p.N1123N	BAT2L2_uc010pmh.1_Silent_p.N100N	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1123							protein C-terminus binding				0														0.20339	21.760213	26.590246	12	47	KEEP	---	---	---	---	capture		Silent	SNP	171509980	171509980	1342	1	C	T	T	T	233	18	BAT2L2	2	2
GNB1	2782	broad.mit.edu	37	1	1721833	1721833	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1721833C>G	uc001aif.2	-	c.699_splice	c.e9+1	p.C233_splice	GNB1_uc009vky.2_Splice_Site_SNP_p.C133_splice	NM_002074	NP_002065			guanine nucleotide-binding protein, beta-1						cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)										0.15	5.711863	8.060682	3	17	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	1721833	1721833	6784	1	C	G	G	G	247	19	GNB1	5	3
RC3H1	149041	broad.mit.edu	37	1	173933262	173933262	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173933262C>A	uc010pmt.1	-	c.1680G>T	c.(1678-1680)AGG>AGT	p.R560S	RC3H1_uc001gju.3_Missense_Mutation_p.R560S|RC3H1_uc010pms.1_Missense_Mutation_p.R560S|RC3H1_uc001gjv.2_Missense_Mutation_p.R560S	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	560	Pro-rich.					cytoplasm	RNA binding|zinc ion binding			ovary(2)	2														0.155172	13.97916	20.535934	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173933262	173933262	13635	1	C	A	A	A	285	22	RC3H1	2	2
C1orf125	126859	broad.mit.edu	37	1	179504097	179504097	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179504097G>C	uc001gmo.2	+	c.3031G>C	c.(3031-3033)GGT>CGT	p.G1011R	C1orf125_uc009wxg.2_Non-coding_Transcript|C1orf125_uc001gmp.2_Missense_Mutation_p.G937R|C1orf125_uc009wxh.2_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	1011											0														0.344828	83.439558	85.282072	30	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179504097	179504097	2060	1	G	C	C	C	455	35	C1orf125	3	3
HMCN1	83872	broad.mit.edu	37	1	186064378	186064378	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186064378C>A	uc001grq.1	+	c.10298C>A	c.(10297-10299)CCA>CAA	p.P3433Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3433					bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.191176	28.368064	34.404442	13	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186064378	186064378	7511	1	C	A	A	A	273	21	HMCN1	2	2
KCNT2	343450	broad.mit.edu	37	1	196303157	196303157	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196303157C>A	uc001gtd.1	-	c.1817G>T	c.(1816-1818)TGT>TTT	p.C606F	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.C556F|KCNT2_uc001gtf.1_Missense_Mutation_p.C606F|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.2_Missense_Mutation_p.C606F|KCNT2_uc001gth.1_Missense_Mutation_p.C127F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	606	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.355932	60.439393	61.526123	21	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196303157	196303157	8397	1	C	A	A	A	221	17	KCNT2	2	2
ASPM	259266	broad.mit.edu	37	1	197093426	197093426	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197093426T>A	uc001gtu.2	-	c.3204A>T	c.(3202-3204)GAA>GAT	p.E1068D	ASPM_uc001gtv.2_Missense_Mutation_p.E1068D|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1068	Potential.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.142857	7.850456	12.153594	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197093426	197093426	1075	1	T	A	A	A	725	56	ASPM	3	3
UBXN10	127733	broad.mit.edu	37	1	20517886	20517886	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20517886G>T	uc001bdb.2	+	c.832G>T	c.(832-834)GGG>TGG	p.G278W		NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	278										ovary(1)	1														0.177966	36.709944	48.271343	21	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20517886	20517886	17470	1	G	T	T	T	455	35	UBXN10	2	2
PTPN14	5784	broad.mit.edu	37	1	214560235	214560235	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214560235C>A	uc001hkk.1	-	c.1018G>T	c.(1018-1020)GTT>TTT	p.V340F	PTPN14_uc010pty.1_Missense_Mutation_p.V241F	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	340						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		Colon(92;557 1424 24372 34121 40073)								0.5	39.374943	39.374943	13	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214560235	214560235	13238	1	C	A	A	A	247	19	PTPN14	1	1
KCNK2	3776	broad.mit.edu	37	1	215259901	215259901	+	Silent	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215259901G>C	uc001hkq.2	+	c.237G>C	c.(235-237)GTG>GTC	p.V79V	KCNK2_uc001hko.2_Silent_p.V75V|KCNK2_uc009xdm.2_Non-coding_Transcript|KCNK2_uc001hkp.2_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.3_Silent_p.V64V	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	79	Helical; (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)									0.280702	90.022655	94.973176	32	82	KEEP	---	---	---	---	capture		Silent	SNP	215259901	215259901	8371	1	G	C	C	C	613	48	KCNK2	3	3
USH2A	7399	broad.mit.edu	37	1	215987217	215987217	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215987217G>T	uc001hku.1	-	c.9600C>A	c.(9598-9600)CCC>CCA	p.P3200P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3200	Extracellular (Potential).|Fibronectin type-III 18.				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)										0.285714	79.170223	83.143432	28	70	KEEP	---	---	---	---	capture		Silent	SNP	215987217	215987217	17598	1	G	T	T	T	600	47	USH2A	2	2
EPRS	2058	broad.mit.edu	37	1	220154103	220154103	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220154103C>T	uc001hly.1	-	c.3550G>A	c.(3550-3552)GAA>AAA	p.E1184K		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1184	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)									0.18	17.642706	22.460232	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220154103	220154103	5384	1	C	T	T	T	390	30	EPRS	2	2
HHIPL2	79802	broad.mit.edu	37	1	222717114	222717114	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222717114C>A	uc001hnh.1	-	c.739G>T	c.(739-741)GAT>TAT	p.D247Y		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	247					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)										0.147059	15.098597	23.247788	10	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222717114	222717114	7378	1	C	A	A	A	377	29	HHIPL2	2	2
HHIPL2	79802	broad.mit.edu	37	1	222717205	222717205	+	Silent	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222717205C>G	uc001hnh.1	-	c.648G>C	c.(646-648)CTG>CTC	p.L216L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	216					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)										0.431818	61.501432	61.682478	19	25	KEEP	---	---	---	---	capture		Silent	SNP	222717205	222717205	7378	1	C	G	G	G	366	29	HHIPL2	3	3
SUSD4	55061	broad.mit.edu	37	1	223396608	223396608	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:223396608C>T	uc001hnx.2	-	c.1427G>A	c.(1426-1428)GGC>GAC	p.G476D	SUSD4_uc001hny.3_Missense_Mutation_p.G476D|SUSD4_uc010puw.1_Missense_Mutation_p.G316D	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	476	Cytoplasmic (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)										0.169231	19.986313	26.717927	11	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223396608	223396608	15930	1	C	T	T	T	338	26	SUSD4	2	2
WNT3A	89780	broad.mit.edu	37	1	228247951	228247951	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228247951C>A	uc001hrp.1	+	c.1104C>A	c.(1102-1104)CCC>CCA	p.P368P	WNT3A_uc001hrq.1_3'UTR	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	Error:Variant_position_missing_in_P56704_after_alignment					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of heart induction by canonical Wnt receptor signaling pathway|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)												0.388889	41.803355	42.171356	14	22	KEEP	---	---	---	---	capture		Silent	SNP	228247951	228247951	17963	1	C	A	A	A	274	22	WNT3A	2	2
ZBTB40	9923	broad.mit.edu	37	1	22837825	22837825	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22837825G>T	uc001bft.2	+	c.1987G>T	c.(1987-1989)GAG>TAG	p.E663*	ZBTB40_uc001bfu.2_Nonsense_Mutation_p.E663*|ZBTB40_uc009vqi.1_Nonsense_Mutation_p.E551*|ZBTB40_uc001bfv.1_Nonsense_Mutation_p.E292*	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)										0.283019	35.359975	37.635539	15	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22837825	22837825	18128	1	G	T	T	T	533	41	ZBTB40	5	2
NUP133	55746	broad.mit.edu	37	1	229636557	229636557	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229636557G>A	uc001htn.2	-	c.459C>T	c.(457-459)GCC>GCT	p.A153A		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	153					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|ovary(1)	5	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)								578				0.333333	23.192602	23.782716	8	16	KEEP	---	---	---	---	capture		Silent	SNP	229636557	229636557	11159	1	G	A	A	A	496	39	NUP133	1	1
SIPA1L2	57568	broad.mit.edu	37	1	232564191	232564191	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232564191G>A	uc001hvg.2	-	c.4376C>T	c.(4375-4377)CCT>CTT	p.P1459L	SIPA1L2_uc001hvf.2_Missense_Mutation_p.P533L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1459					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.365385	58.610532	59.439572	19	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232564191	232564191	14825	1	G	A	A	A	455	35	SIPA1L2	2	2
NID1	4811	broad.mit.edu	37	1	236192968	236192968	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236192968G>T	uc001hxo.2	-	c.1620C>A	c.(1618-1620)ATC>ATA	p.I540I	NID1_uc009xgd.2_Silent_p.I540I	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	540	Nidogen G2 beta-barrel.				bioluminescence|cell-matrix adhesion|protein-chromophore linkage	basement membrane|membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)									0.192308	11.663837	13.959442	5	21	KEEP	---	---	---	---	capture		Silent	SNP	236192968	236192968	10815	1	G	T	T	T	473	37	NID1	1	1
RYR2	6262	broad.mit.edu	37	1	237777471	237777471	+	Silent	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237777471T>C	uc001hyl.1	+	c.5043T>C	c.(5041-5043)GAT>GAC	p.D1681D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1681	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)											0.189474	32.789269	41.367779	18	77	KEEP	---	---	---	---	capture		Silent	SNP	237777471	237777471	14249	1	T	C	C	C	660	51	RYR2	4	4
RYR2	6262	broad.mit.edu	37	1	237841363	237841363	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237841363G>T	uc001hyl.1	+	c.8846G>T	c.(8845-8847)GGC>GTC	p.G2949V	RYR2_uc010pxz.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2949	Modulator (Potential).|Cytoplasmic (By similarity).				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)											0.275862	19.285041	20.598734	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237841363	237841363	14249	1	G	T	T	T	546	42	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237947190	237947190	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947190C>A	uc001hyl.1	+	c.12178C>A	c.(12178-12180)CAG>AAG	p.Q4060K	RYR2_uc010pya.1_Missense_Mutation_p.Q475K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4060					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)											0.206897	27.665798	32.285049	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237947190	237947190	14249	1	C	A	A	A	325	25	RYR2	2	2
TRIM58	25893	broad.mit.edu	37	1	248039404	248039404	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248039404G>A	uc001ido.2	+	c.1074G>A	c.(1072-1074)TGG>TGA	p.W358*	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	358	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.308017	191.888113	199.674862	73	164	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	248039404	248039404	17077	1	G	A	A	A	559	43	TRIM58	5	2
OR2M5	127059	broad.mit.edu	37	1	248308513	248308513	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248308513C>T	uc010pze.1	+	c.64C>T	c.(64-66)CCC>TCC	p.P22S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)											0.286195	214.344438	226.547227	85	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248308513	248308513	11419	1	C	T	T	T	286	22	OR2M5	2	2
OR2M3	127062	broad.mit.edu	37	1	248367276	248367278	+	Missense	Complex_substitution	ANG	GNT	GNT			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248367276A>G	uc010pzg.1	+	c.907A>G	c.(907-909)AAG>GAG	p.K303E		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.342593	232.451833	237.195626	74	142	KEEP	---	---	---	---	capture		Missense	Complex_substitution	248367276	248367278	11417	1	ANG	GNT	GNT	G	117	9	OR2M3	5	5
OR2T4	127074	broad.mit.edu	37	1	248525230	248525230	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248525230C>G	uc001ieh.1	+	c.348C>G	c.(346-348)GAC>GAG	p.D116E		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	116	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.117647	41.091429	75.238449	28	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248525230	248525230	11433	1	C	G	G	G	233	18	OR2T4	3	3
SNRNP40	9410	broad.mit.edu	37	1	31762255	31762255	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:31762255G>C	uc010oge.1	-	c.377C>G	c.(376-378)TCA>TGA	p.S126*	SNRNP40_uc001bso.2_Nonsense_Mutation_p.S126*	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	WD repeat domain 57 (U5 snRNP specific)	126	WD 2.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding				0														0.189189	34.306677	40.994137	14	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31762255	31762255	15356	1	G	C	C	C	585	45	SNRNP40	5	3
GJA4	2701	broad.mit.edu	37	1	35260337	35260337	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35260337C>A	uc009vul.2	+	c.751C>A	c.(751-753)CGC>AGC	p.R251S	GJA4_uc001bya.2_Missense_Mutation_p.R175S|GJA4_uc009vum.1_Missense_Mutation_p.R175S	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	175	Extracellular (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)												0.277778	13.268767	14.06764	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35260337	35260337	6671	1	C	A	A	A	351	27	GJA4	1	1
TIE1	7075	broad.mit.edu	37	1	43770805	43770805	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43770805G>T	uc001ciu.2	+	c.342G>T	c.(340-342)ACG>ACT	p.T114T	TIE1_uc010okd.1_Silent_p.T114T|TIE1_uc010oke.1_Silent_p.T69T|TIE1_uc009vwq.2_Silent_p.T114T|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Silent_p.T114T|TIE1_uc010okb.1_Silent_p.T114T|TIE1_uc010okc.1_Silent_p.T114T	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	114	Extracellular (Potential).				mesoderm development|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			stomach(1)|salivary_gland(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)							p.R115S(RERFLCAD1-Tumor)	488				0.176471	6.61729	8.291975	3	14	KEEP	---	---	---	---	capture		Silent	SNP	43770805	43770805	16421	1	G	T	T	T	483	38	TIE1	1	1
TIE1	7075	broad.mit.edu	37	1	43779623	43779623	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43779623C>G	uc001ciu.2	+	c.2393C>G	c.(2392-2394)ACC>AGC	p.T798S	TIE1_uc010oke.1_Missense_Mutation_p.T753S|TIE1_uc009vwq.2_Missense_Mutation_p.T754S|TIE1_uc010okf.1_Missense_Mutation_p.T443S|TIE1_uc010okg.1_Missense_Mutation_p.T443S	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	798	Cytoplasmic (Potential).				mesoderm development|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			stomach(1)|salivary_gland(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)								488				0.176471	14.034405	17.383756	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43779623	43779623	16421	1	C	G	G	G	234	18	TIE1	3	3
KIAA0467	23334	broad.mit.edu	37	1	43897569	43897569	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43897569G>T	uc001cjk.1	+	c.2574G>T	c.(2572-2574)AAG>AAT	p.K858N		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1757						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.149254	18.204147	26.111572	10	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43897569	43897569	8485	1	G	T	T	T	451	35	KIAA0467	2	2
MKNK1	8569	broad.mit.edu	37	1	47037778	47037778	+	Silent	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47037778C>G	uc001cqb.2	-	c.450G>C	c.(448-450)GTG>GTC	p.V150V	MKNK1_uc010omd.1_Silent_p.V55V|MKNK1_uc001cqc.2_Silent_p.V150V|MKNK1_uc009vyi.2_Silent_p.V150V|MKNK1_uc010ome.1_Silent_p.V55V|MKNK1_uc009vyj.2_Silent_p.V95V|MKNK1_uc001cqd.2_Silent_p.V138V	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	150	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)									255				0.142857	7.049229	11.354313	5	30	KEEP	---	---	---	---	capture		Silent	SNP	47037778	47037778	9994	1	C	G	G	G	262	21	MKNK1	3	3
DAB1	1600	broad.mit.edu	37	1	57480832	57480832	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57480832C>G	uc001cys.1	-	c.1168G>C	c.(1168-1170)GTC>CTC	p.V390L	DAB1_uc001cyt.1_Missense_Mutation_p.V388L|DAB1_uc001cyq.1_Missense_Mutation_p.V388L|DAB1_uc001cyr.1_Missense_Mutation_p.V304L|DAB1_uc009vzw.1_Missense_Mutation_p.V372L|DAB1_uc009vzx.1_Missense_Mutation_p.V390L	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	423					cell differentiation|nervous system development					ovary(1)	1										395				0.171429	11.963519	15.508024	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57480832	57480832	4383	1	C	G	G	G	247	19	DAB1	3	3
KCNAB2	8514	broad.mit.edu	37	1	6147572	6147572	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6147572G>T	uc001aly.1	+	c.470_splice	c.e7+1	p.K157_splice	KCNAB2_uc009vlv.1_Splice_Site_SNP_p.K124_splice|KCNAB2_uc001alv.1_Splice_Site_SNP_p.K124_splice|KCNAB2_uc001alw.1_Splice_Site_SNP_p.K110_splice|KCNAB2_uc001alx.1_Splice_Site_SNP_p.K124_splice|KCNAB2_uc009vlw.1_Splice_Site_SNP_p.K57_splice|KCNAB2_uc001alu.2_Splice_Site_SNP_p.K124_splice	NM_172130	NP_742128			potassium voltage-gated channel, shaker-related						oxidation-reduction process	cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)										0.130435	4.911705	7.964794	3	20	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	6147572	6147572	8315	1	G	T	T	T	468	36	KCNAB2	5	2
SFRS11	9295	broad.mit.edu	37	1	70700421	70700421	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70700421G>T	uc001des.2	+	c.490G>T	c.(490-492)GAT>TAT	p.D164Y	SFRS11_uc001det.2_Missense_Mutation_p.D164Y|SFRS11_uc001deu.2_Missense_Mutation_p.D164Y|SFRS11_uc001dev.2_5'UTR|SFRS11_uc001dew.2_Missense_Mutation_p.D104Y	NM_004768	NP_004759	Q05519	SRS11_HUMAN	splicing factor, arginine/serine-rich 11	164					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0														0.2125	35.837748	41.945791	17	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70700421	70700421	14655	1	G	T	T	T	585	45	SFRS11	2	2
COL24A1	255631	broad.mit.edu	37	1	86377088	86377088	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86377088C>A	uc001dlj.2	-	c.2591G>T	c.(2590-2592)GGG>GTG	p.G864V	COL24A1_uc001dli.2_5'UTR|COL24A1_uc010osd.1_Missense_Mutation_p.G164V|COL24A1_uc001dlk.2_Non-coding_Transcript|COL24A1_uc010ose.1_Non-coding_Transcript|COL24A1_uc010osf.1_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	864	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.173333	26.33175	33.88624	13	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86377088	86377088	3821	1	C	A	A	A	286	22	COL24A1	2	2
HFM1	164045	broad.mit.edu	37	1	91851361	91851361	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91851361C>A	uc001doa.3	-	c.525G>T	c.(523-525)GGG>GGT	p.G175G	HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Silent_p.G175G	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	175							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)										0.157895	9.121792	13.369659	6	32	KEEP	---	---	---	---	capture		Silent	SNP	91851361	91851361	7366	1	C	A	A	A	379	30	HFM1	2	2
ALG14	199857	broad.mit.edu	37	1	95530454	95530454	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:95530454G>C	uc001dra.2	-	c.256C>G	c.(256-258)CTA>GTA	p.L86V		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	asparagine-linked glycosylation 14 homolog	86	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity				0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)										0.183824	59.826065	72.558939	25	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95530454	95530454	519	1	G	C	C	C	464	36	ALG14	3	3
LPPR4	9890	broad.mit.edu	37	1	99753626	99753626	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99753626A>T	uc001dse.2	+	c.328A>T	c.(328-330)ATG>TTG	p.M110L	LPPR4_uc010oue.1_Missense_Mutation_p.M110L	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	110							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.116279	14.190805	26.649484	10	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99753626	99753626	9300	1	A	T	T	T	104	8	LPPR4	3	3
SNAP25	6616	broad.mit.edu	37	20	10279989	10279989	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:10279989C>A	uc002wnq.1	+	c.481C>A	c.(481-483)CGT>AGT	p.R161S	SNAP25_uc002wnr.1_Missense_Mutation_p.R161S|SNAP25_uc002wns.1_Missense_Mutation_p.R98S|SNAP25_uc010gca.1_Missense_Mutation_p.R161S|SNAP25_uc010gcb.1_Missense_Mutation_p.R98S|SNAP25_uc010gcc.1_Missense_Mutation_p.R55S	NM_130811	NP_570824	P60880	SNP25_HUMAN	synaptosomal-associated protein 25 isoform	161	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome					0					Botulinum Toxin Type A(DB00083)									0.115942	20.750325	40.75256	16	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10279989	10279989	15330	20	C	A	A	A	299	23	SNAP25	1	1
RALGAPA2	57186	broad.mit.edu	37	20	20563841	20563841	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:20563841C>A	uc002wrz.2	-	c.2560G>T	c.(2560-2562)GGC>TGC	p.G854C	RALGAPA2_uc010gcx.2_Missense_Mutation_p.G558C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.G302C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	854					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1														0.142857	22.785339	34.829872	14	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20563841	20563841	13474	20	C	A	A	A	286	22	RALGAPA2	2	2
XRN2	22803	broad.mit.edu	37	20	21367514	21367514	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:21367514G>T	uc002wsf.1	+	c.2657G>T	c.(2656-2658)GGG>GTG	p.G886V	XRN2_uc002wsg.1_Missense_Mutation_p.G810V|XRN2_uc010zsk.1_Missense_Mutation_p.G832V|XRN2_uc002wsh.1_Missense_Mutation_p.G24V	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	886					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding				0														0.168224	32.282071	43.441505	18	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21367514	21367514	18043	20	G	T	T	T	559	43	XRN2	2	2
FAM113A	64773	broad.mit.edu	37	20	2819684	2819684	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2819684C>A	uc002wgz.1	-	c.249G>T	c.(247-249)CAG>CAT	p.Q83H	FAM113A_uc002whb.1_Intron|FAM113A_uc002wha.1_5'UTR|FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Intron|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	83							hydrolase activity|protein binding			ovary(2)	2														0.266667	18.68464	20.16179	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2819684	2819684	5598	20	C	A	A	A	363	28	FAM113A	2	2
ASIP	434	broad.mit.edu	37	20	32848270	32848270	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:32848270C>A	uc002xah.1	+	c.90C>A	c.(88-90)CTC>CTA	p.L30L		NM_001672	NP_001663	P42127	ASIP_HUMAN	agouti signaling protein precursor	30					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)	1														0.256098	49.158192	53.568849	21	61	KEEP	---	---	---	---	capture		Silent	SNP	32848270	32848270	1062	20	C	A	A	A	379	30	ASIP	2	2
KIAA1755	85449	broad.mit.edu	37	20	36868037	36868037	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36868037C>A	uc002xhy.1	-	c.1640G>T	c.(1639-1641)GGC>GTC	p.G547V	KIAA1755_uc002xhz.1_Missense_Mutation_p.G547V	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	547										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.198529	52.677316	64.165015	27	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36868037	36868037	8568	20	C	A	A	A	338	26	KIAA1755	2	2
DHX35	60625	broad.mit.edu	37	20	37639012	37639012	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37639012G>A	uc002xjh.2	+	c.1312G>A	c.(1312-1314)GGA>AGA	p.G438R	DHX35_uc010zwa.1_Missense_Mutation_p.G283R|DHX35_uc010zwb.1_Missense_Mutation_p.G283R|DHX35_uc010zwc.1_Missense_Mutation_p.G407R	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	438	Helicase C-terminal.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)												0.108108	4.971361	10.605359	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37639012	37639012	4687	20	G	A	A	A	455	35	DHX35	2	2
PTPRT	11122	broad.mit.edu	37	20	40877394	40877394	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40877394C>A	uc010ggj.2	-	c.2302G>T	c.(2302-2304)GGC>TGC	p.G768C	PTPRT_uc002xkg.2_Missense_Mutation_p.G749C	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	749	Helical; (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.210526	45.792571	53.124803	20	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40877394	40877394	13270	20	C	A	A	A	273	21	PTPRT	2	2
L3MBTL	26013	broad.mit.edu	37	20	42158947	42158947	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42158947G>T	uc010zwh.1	+	c.1014G>T	c.(1012-1014)CTG>CTT	p.L338L	L3MBTL_uc002xkl.2_Silent_p.L270L|L3MBTL_uc002xkm.2_Silent_p.L270L|L3MBTL_uc010ggl.2_Silent_p.L270L|L3MBTL_uc002xkn.1_Silent_p.L29L|L3MBTL_uc002xko.2_5'Flank	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	270	MBT 1.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)											0.120301	18.170229	36.924827	16	117	KEEP	---	---	---	---	capture		Silent	SNP	42158947	42158947	8914	20	G	T	T	T	587	46	L3MBTL	2	2
GDAP1L1	78997	broad.mit.edu	37	20	42885907	42885907	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42885907C>A	uc010zwl.1	+	c.295C>A	c.(295-297)CCC>ACC	p.P99T	GDAP1L1_uc002xlp.1_Missense_Mutation_p.P99T|GDAP1L1_uc002xlq.2_Missense_Mutation_p.P99T|GDAP1L1_uc010zwm.1_Missense_Mutation_p.P99T|GDAP1L1_uc010zwn.1_Intron	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	ganglioside-induced differentiation-associated	99	GST N-terminal.									large_intestine(1)	1		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)											0.25	14.954516	16.307397	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42885907	42885907	6575	20	C	A	A	A	338	26	GDAP1L1	2	2
KCNB1	3745	broad.mit.edu	37	20	47991190	47991190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47991190G>A	uc002xur.1	-	c.907C>T	c.(907-909)CGA>TGA	p.R303*	KCNB1_uc002xus.1_Nonsense_Mutation_p.R303*	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	303	Helical; Voltage-sensor; Name=Segment S4; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.098361	3.809562	13.651146	6	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47991190	47991190	8317	20	G	A	A	A	493	38	KCNB1	5	1
CDH26	60437	broad.mit.edu	37	20	58559833	58559833	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58559833A>G	uc002ybe.2	+	c.681A>G	c.(679-681)ATA>ATG	p.I227M	CDH26_uc010zzy.1_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	227	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)											0.211538	28.29846	32.298015	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58559833	58559833	3239	20	A	G	G	G	176	14	CDH26	4	4
CHGB	1114	broad.mit.edu	37	20	5904628	5904628	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5904628A>G	uc002wmg.2	+	c.1838A>G	c.(1837-1839)TAC>TGC	p.Y613C	CHGB_uc010zqz.1_Missense_Mutation_p.Y296C	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	613						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.155172	18.344621	24.927137	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5904628	5904628	3473	20	A	G	G	G	182	14	CHGB	4	4
DIDO1	11083	broad.mit.edu	37	20	61528110	61528110	+	Silent	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61528110T>A	uc002ydr.1	-	c.1827A>T	c.(1825-1827)TCA>TCT	p.S609S	DIDO1_uc002yds.1_Silent_p.S609S|DIDO1_uc002ydt.1_Silent_p.S609S|DIDO1_uc002ydu.1_Silent_p.S609S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	609					apoptosis	cytoplasm|nucleus	zinc ion binding			ovary(3)	3	Breast(26;5.68e-08)					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)								0.235294	18.79132	20.965658	8	26	KEEP	---	---	---	---	capture		Silent	SNP	61528110	61528110	4701	20	T	A	A	A	704	55	DIDO1	3	3
PLCB1	23236	broad.mit.edu	37	20	8769323	8769323	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:8769323G>T	uc002wnb.2	+	c.3232G>T	c.(3232-3234)GAG>TAG	p.E1078*	PLCB1_uc002wna.2_Nonsense_Mutation_p.E1078*	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	1078					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of monocyte extravasation|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of gene-specific transcription|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity|transcription repressor activity			ovary(4)|breast(3)|lung(1)	8														0.25	22.097678	24.61053	11	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	8769323	8769323	12453	20	G	T	T	T	533	41	PLCB1	5	2
CLDN14	23562	broad.mit.edu	37	21	37833374	37833374	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37833374G>T	uc002yvk.1	-	c.620C>A	c.(619-621)ACC>AAC	p.T207N	CLDN14_uc002yvn.1_Missense_Mutation_p.T207N|CLDN14_uc002yvo.1_Missense_Mutation_p.T207N|CLDN14_uc002yvl.1_Missense_Mutation_p.T207N|CLDN14_uc002yvm.1_Missense_Mutation_p.T207N	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	207	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.272727	8.421129	8.932626	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37833374	37833374	3611	21	G	T	T	T	572	44	CLDN14	2	2
KRTAP12-1	353332	broad.mit.edu	37	21	46101811	46101811	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46101811G>T	uc002zfv.2	-	c.228C>A	c.(226-228)TGC>TGA	p.C76*	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	keratin associated protein 12-1	76	11.|14 X 5 AA approximate repeats.					keratin filament					0														0.387097	30.701239	31.043699	12	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46101811	46101811	8833	21	G	T	T	T	542	42	KRTAP12-1	5	2
AP1B1	162	broad.mit.edu	37	22	29735017	29735017	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:29735017C>A	uc003afj.2	-	c.2125G>T	c.(2125-2127)GTG>TTG	p.V709L	AP1B1_uc003afi.2_Missense_Mutation_p.V702L|AP1B1_uc003afk.2_Missense_Mutation_p.V702L|AP1B1_uc003afl.2_Missense_Mutation_p.V702L|AP1B1_uc011ako.1_Missense_Mutation_p.V262L	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	709	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)	1														0.180328	22.699185	28.552902	11	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29735017	29735017	741	22	C	A	A	A	247	19	AP1B1	1	1
BPIL2	254240	broad.mit.edu	37	22	32841968	32841968	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32841968C>A	uc003amn.2	-	c.390G>T	c.(388-390)GGG>GGT	p.G130G	BPIL2_uc010gwo.2_5'UTR|BPIL2_uc011amb.1_Intron	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	bactericidal/permeability-increasing	130						extracellular region	lipopolysaccharide binding|phospholipid binding			ovary(1)	1														0.214286	19.376088	22.525194	9	33	KEEP	---	---	---	---	capture		Silent	SNP	32841968	32841968	1520	22	C	A	A	A	275	22	BPIL2	2	2
IL18RAP	8807	broad.mit.edu	37	2	103061716	103061716	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103061716G>T	uc002tbx.2	+	c.988G>T	c.(988-990)GAT>TAT	p.D330Y	IL18RAP_uc010fiz.2_Missense_Mutation_p.D188Y	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	330	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			ovary(2)	2														0.230769	35.089779	39.408822	15	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103061716	103061716	7949	2	G	T	T	T	585	45	IL18RAP	2	2
SLC5A7	60482	broad.mit.edu	37	2	108614427	108614427	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:108614427C>A	uc002tdv.2	+	c.582C>A	c.(580-582)TGC>TGA	p.C194*	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Nonsense_Mutation_p.C194*|SLC5A7_uc010ywn.1_Nonsense_Mutation_p.C81*	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	194	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)	3					Choline(DB00122)									0.197861	78.558205	94.464124	37	150	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108614427	108614427	15167	2	C	A	A	A	324	25	SLC5A7	5	2
SLC20A1	6574	broad.mit.edu	37	2	113417209	113417209	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113417209A>G	uc002tib.2	+	c.1477A>G	c.(1477-1479)AGA>GGA	p.R493G	SLC20A1_uc002tic.1_Missense_Mutation_p.R305G	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	493	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														0.173184	53.336841	71.537484	31	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113417209	113417209	14934	2	A	G	G	G	88	7	SLC20A1	4	4
SMPD4	55627	broad.mit.edu	37	2	130911008	130911008	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130911008G>A	uc002tqq.1	-	c.2026C>T	c.(2026-2028)CTC>TTC	p.L676F	SMPD4_uc002tqo.1_Missense_Mutation_p.L208F|SMPD4_uc002tqp.1_Missense_Mutation_p.L415F|SMPD4_uc010yzy.1_Missense_Mutation_p.L425F|SMPD4_uc010yzz.1_Missense_Mutation_p.L340F|SMPD4_uc002tqr.1_Missense_Mutation_p.L647F|SMPD4_uc002tqs.1_Missense_Mutation_p.L544F|SMPD4_uc002tqt.1_Missense_Mutation_p.L525F|SMPD4_uc010zaa.1_Missense_Mutation_p.L534F|SMPD4_uc010zab.1_Missense_Mutation_p.L574F|SMPD4_uc010zac.1_Missense_Mutation_p.L417F|SMPD4_uc010zad.1_Missense_Mutation_p.L312F	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	637					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)									0.307692	9.992367	10.422667	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130911008	130911008	15307	2	G	A	A	A	442	34	SMPD4	2	2
TUBA3E	112714	broad.mit.edu	37	2	130951699	130951699	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130951699G>C	uc002tqv.2	-	c.716C>G	c.(715-717)ACG>AGG	p.T239R		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	239					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0	Colorectal(110;0.1)													0.176471	35.984944	44.35903	15	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130951699	130951699	17303	2	G	C	C	C	520	40	TUBA3E	3	3
THSD7B	80731	broad.mit.edu	37	2	138378217	138378217	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:138378217C>A	uc002tva.1	+	c.3633C>A	c.(3631-3633)TGC>TGA	p.C1211*	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.198925	78.767066	94.463475	37	149	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	138378217	138378217	16408	2	C	A	A	A	363	28	THSD7B	5	2
LRP1B	53353	broad.mit.edu	37	2	141283517	141283517	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141283517G>T	uc002tvj.1	-	c.7922C>A	c.(7921-7923)ACA>AAA	p.T2641K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2641	Extracellular (Potential).|LDL-receptor class A 14.				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)			0.154762	24.6205	34.187083	13	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141283517	141283517	9328	2	G	T	T	T	624	48	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141625180	141625180	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141625180G>T	uc002tvj.1	-	c.4558C>A	c.(4558-4560)CAT>AAT	p.H1520N	LRP1B_uc010fnl.1_Missense_Mutation_p.H702N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1520	Extracellular (Potential).|LDL-receptor class B 13.				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)			0.156863	13.964973	19.697196	8	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141625180	141625180	9328	2	G	T	T	T	611	47	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141641525	141641525	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141641525A>T	uc002tvj.1	-	c.4030T>A	c.(4030-4032)TGG>AGG	p.W1344R	LRP1B_uc010fnl.1_Missense_Mutation_p.W526R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1344	Extracellular (Potential).|LDL-receptor class B 9.				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)			0.229167	28.002026	31.229355	11	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141641525	141641525	9328	2	A	T	T	T	91	7	LRP1B	3	3
LRP1B	53353	broad.mit.edu	37	2	141819716	141819716	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141819716G>T	uc002tvj.1	-	c.1140C>A	c.(1138-1140)GTC>GTA	p.V380V	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	380	Extracellular (Potential).|LDL-receptor class B 3.				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)			0.162791	26.093396	35.390329	14	72	KEEP	---	---	---	---	capture		Silent	SNP	141819716	141819716	9328	2	G	T	T	T	574	45	LRP1B	2	2
KYNU	8942	broad.mit.edu	37	2	143798074	143798074	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:143798074G>A	uc002tvl.2	+	c.1119G>A	c.(1117-1119)AAG>AAA	p.K373K	KYNU_uc010fnm.2_Silent_p.K373K	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	373					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)									0.184783	33.616395	42.19409	17	75	KEEP	---	---	---	---	capture		Silent	SNP	143798074	143798074	8910	2	G	A	A	A	438	34	KYNU	2	2
TPO	7173	broad.mit.edu	37	2	1488506	1488506	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1488506G>T	uc002qww.2	+	c.1477G>T	c.(1477-1479)GGC>TGC	p.G493C	TPO_uc010ewj.2_Non-coding_Transcript|TPO_uc002qwu.2_Missense_Mutation_p.G493C|TPO_uc002qwr.2_Missense_Mutation_p.G493C|TPO_uc002qwx.2_Missense_Mutation_p.G493C|TPO_uc010yio.1_Missense_Mutation_p.G320C|TPO_uc010yip.1_Missense_Mutation_p.G493C|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_Non-coding_Transcript	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	493	Extracellular (Potential).		G -> S (in CHDH2A).		cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.263158	13.177268	14.13416	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1488506	1488506	16954	2	G	T	T	T	507	39	TPO	1	1
MMADHC	27249	broad.mit.edu	37	2	150426500	150426500	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:150426500T>A	uc010fnu.2	-	c.981A>T	c.(979-981)TTA>TTT	p.L327F	MMADHC_uc002txb.2_Missense_Mutation_p.L293F|MMADHC_uc002txc.2_Missense_Mutation_p.L293F	NM_015702	NP_056517	Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency)	293						mitochondrion				skin(1)	1														0.210526	17.077437	20.025203	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150426500	150426500	10032	2	T	A	A	A	790	61	MMADHC	3	3
NBAS	51594	broad.mit.edu	37	2	15432849	15432849	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15432849C>A	uc002rcc.1	-	c.4839G>T	c.(4837-4839)GTG>GTT	p.V1613V	NBAS_uc010exl.1_Silent_p.V685V|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1613										ovary(2)|liver(1)	3														0.295455	34.756451	36.404058	13	31	KEEP	---	---	---	---	capture		Silent	SNP	15432849	15432849	10582	2	C	A	A	A	366	29	NBAS	2	2
KCNJ3	3760	broad.mit.edu	37	2	155555855	155555855	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155555855C>T	uc002tyv.1	+	c.568C>T	c.(568-570)CGC>TGC	p.R190C	KCNJ3_uc010zce.1_Missense_Mutation_p.R190C	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	190	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.119048	5.254649	11.232149	5	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155555855	155555855	8357	2	C	T	T	T	351	27	KCNJ3	1	1
TANK	10010	broad.mit.edu	37	2	162087711	162087711	+	Silent	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162087711A>G	uc002ubr.1	+	c.750A>G	c.(748-750)CCA>CCG	p.P250P	TANK_uc002ubs.2_Silent_p.P250P	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	250						cytosol	metal ion binding|protein binding				0														0.125	18.036987	34.533009	15	105	KEEP	---	---	---	---	capture		Silent	SNP	162087711	162087711	16067	2	A	G	G	G	80	7	TANK	4	4
GRB14	2888	broad.mit.edu	37	2	165365355	165365355	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165365355C>G	uc002ucl.2	-	c.824G>C	c.(823-825)CGG>CCG	p.R275P	GRB14_uc010zcv.1_Missense_Mutation_p.R188P|GRB14_uc002ucm.2_Non-coding_Transcript	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	275	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|lung(1)	6														0.155172	17.743796	24.327832	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165365355	165365355	7034	2	C	G	G	G	299	23	GRB14	3	3
SCN9A	6335	broad.mit.edu	37	2	167168245	167168245	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167168245C>A	uc010fpl.2	-	c.22G>T	c.(22-24)GGA>TGA	p.G8*		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	8						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.215686	50.990999	58.602147	22	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	167168245	167168245	14407	2	C	A	A	A	312	24	SCN9A	5	2
SCN7A	6332	broad.mit.edu	37	2	167262666	167262666	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167262666G>T	uc002udu.1	-	c.4473C>A	c.(4471-4473)TAC>TAA	p.Y1491*		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1491	Helical; Name=S6 of repeat IV; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.175	12.898237	16.886438	7	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	167262666	167262666	14405	2	G	T	T	T	620	48	SCN7A	5	2
XIRP2	129446	broad.mit.edu	37	2	168102985	168102985	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168102985C>A	uc002udx.2	+	c.5083C>A	c.(5083-5085)CTT>ATT	p.L1695I	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.L1520I|XIRP2_uc010fpq.2_Missense_Mutation_p.L1473I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1520					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.266667	48.963306	52.653887	20	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168102985	168102985	18011	2	C	A	A	A	416	32	XIRP2	2	2
DCAF17	80067	broad.mit.edu	37	2	172309702	172309702	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:172309702G>T	uc002ugx.2	+	c.606G>T	c.(604-606)GGG>GGT	p.G202G	DCAF17_uc010zdq.1_Non-coding_Transcript|DCAF17_uc010fqf.1_Silent_p.G202G|DCAF17_uc010zdr.1_Non-coding_Transcript|DCAF17_uc010fqg.2_5'UTR	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17 isoform 1	202	Helical; (Potential).				protein ubiquitination	CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus					0														0.103448	2.302025	6.844198	3	26	KEEP	---	---	---	---	capture		Silent	SNP	172309702	172309702	4440	2	G	T	T	T	522	41	DCAF17	2	2
TTN	7273	broad.mit.edu	37	2	179575439	179575439	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179575439C>T	uc010zfg.1	-	c.24653G>A	c.(24652-24654)GGA>GAA	p.G8218E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4879E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3213										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)						p.G8218E(ISHIKAWAHERAKLIO02ER-Tumor)	8722				0.176471	35.589043	45.65031	18	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179575439	179575439	17290	2	C	T	T	T	390	30	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179581898	179581898	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179581898G>A	uc010zfg.1	-	c.21831C>T	c.(21829-21831)GGC>GGT	p.G7277G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.G3938G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3573										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)						p.G7277G(CL11-Tumor)	8722				0.078431	-0.23834	9.022618	4	47	KEEP	---	---	---	---	capture		Silent	SNP	179581898	179581898	17290	2	G	A	A	A	483	38	TTN	1	1
TTN	7273	broad.mit.edu	37	2	179596851	179596851	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179596851C>T	uc010zfg.1	-	c.13113G>A	c.(13111-13113)ATG>ATA	p.M4371I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M1032I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1363										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				0.16	40.70272	57.21842	24	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179596851	179596851	17290	2	C	T	T	T	221	17	TTN	2	2
COL3A1	1281	broad.mit.edu	37	2	189875505	189875505	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189875505G>T	uc002uqj.1	+	c.4143G>T	c.(4141-4143)CAG>CAT	p.Q1381H		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1381	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)					1079				0.323529	29.310427	30.251823	11	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189875505	189875505	3826	2	G	T	T	T	451	35	COL3A1	2	2
RFTN2	130132	broad.mit.edu	37	2	198508925	198508925	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198508925G>T	uc002uuo.3	-	c.395C>A	c.(394-396)TCT>TAT	p.S132Y		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	132						plasma membrane					0														0.190476	16.880899	20.638463	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198508925	198508925	13731	2	G	T	T	T	429	33	RFTN2	2	2
AOX1	316	broad.mit.edu	37	2	201499527	201499527	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201499527G>T	uc002uvx.2	+	c.2235G>T	c.(2233-2235)ATG>ATT	p.M745I	AOX1_uc010zhf.1_Missense_Mutation_p.M301I|AOX1_uc010fsu.2_Missense_Mutation_p.M111I	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	745					inflammatory response|oxidation-reduction process|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)	5					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)									0.081081	0.600074	7.211522	3	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201499527	201499527	739	2	G	T	T	T	611	47	AOX1	2	2
PARD3B	117583	broad.mit.edu	37	2	206265804	206265804	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206265804C>T	uc002var.1	+	c.2698C>T	c.(2698-2700)CTG>TTG	p.L900L	PARD3B_uc002vao.1_Silent_p.L900L|PARD3B_uc002vap.1_Silent_p.L838L|PARD3B_uc002vaq.1_Silent_p.L831L	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	900				GTLKHGGLR -> WLINFVLIW (in Ref. 4; BAB71623).	cell cycle|cell division	endomembrane system|tight junction				ovary(1)|breast(1)	2		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)										0.142857	6.379828	9.822972	4	24	KEEP	---	---	---	---	capture		Silent	SNP	206265804	206265804	11861	2	C	T	T	T	311	24	PARD3B	2	2
CRYGC	1420	broad.mit.edu	37	2	208992953	208992953	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:208992953A>T	uc002vco.3	-	c.499T>A	c.(499-501)TTG>ATG	p.L167M		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	167	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)										0.164062	34.487295	48.21955	21	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	208992953	208992953	4055	2	A	T	T	T	11	1	CRYGC	3	3
PIKFYVE	200576	broad.mit.edu	37	2	209204748	209204748	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209204748G>T	uc002vcz.2	+	c.4824G>T	c.(4822-4824)GGG>GGT	p.G1608G		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1608					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.195122	30.848419	37.961275	16	66	KEEP	---	---	---	---	capture		Silent	SNP	209204748	209204748	12348	2	G	T	T	T	535	42	PIKFYVE	2	2
MYL1	4632	broad.mit.edu	37	2	211179685	211179685	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211179685G>T	uc002vec.2	-	c.82C>A	c.(82-84)CCT>ACT	p.P28T		NM_079420	NP_524144	P05976	MYL1_HUMAN	fast skeletal myosin alkali light chain 1	28					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|motor activity|structural constituent of muscle			ovary(1)	1				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)										0.208333	10.059051	11.953175	5	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211179685	211179685	10438	2	G	T	T	T	559	43	MYL1	2	2
CPS1	1373	broad.mit.edu	37	2	211464127	211464127	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211464127C>A	uc010fur.2	+	c.1409C>A	c.(1408-1410)CCA>CAA	p.P470Q	CPS1_uc002vee.3_Missense_Mutation_p.P464Q|CPS1_uc010fus.2_Missense_Mutation_p.P13Q	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	464					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.257143	24.127659	25.95469	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211464127	211464127	3961	2	C	A	A	A	273	21	CPS1	2	2
PLCD4	84812	broad.mit.edu	37	2	219487513	219487513	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219487513G>T	uc002vij.1	+	c.684G>T	c.(682-684)TTG>TTT	p.L228F	PLCD4_uc002vik.1_Missense_Mutation_p.L75F|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	228	EF-hand 3.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)	3		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)										0.183333	47.773794	59.071479	22	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219487513	219487513	12459	2	G	T	T	T	607	47	PLCD4	2	2
PRKAG3	53632	broad.mit.edu	37	2	219695018	219695018	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219695018C>G	uc002vjb.1	-	c.316G>C	c.(316-318)GGG>CGG	p.G106R	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Missense_Mutation_p.G106R|PRKAG3_uc010zko.1_Missense_Mutation_p.G102R	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	106					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.25	9.592727	10.501739	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219695018	219695018	12945	2	C	G	G	G	299	23	PRKAG3	3	3
SPHKAP	80309	broad.mit.edu	37	2	228881496	228881496	+	Silent	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228881496A>G	uc002vpq.2	-	c.4074T>C	c.(4072-4074)AGT>AGC	p.S1358S	SPHKAP_uc002vpp.2_Silent_p.S1358S|SPHKAP_uc010zlx.1_Silent_p.S1358S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1358						cytoplasm	protein binding			ovary(4)|lung(1)	5		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)										0.166667	12.849071	16.624105	6	30	KEEP	---	---	---	---	capture		Silent	SNP	228881496	228881496	15560	2	A	G	G	G	76	6	SPHKAP	4	4
ECEL1	9427	broad.mit.edu	37	2	233345520	233345520	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233345520A>T	uc002vsv.2	-	c.2059T>A	c.(2059-2061)TAT>AAT	p.Y687N	ECEL1_uc010fya.1_Missense_Mutation_p.Y685N|ECEL1_uc010fyb.1_Missense_Mutation_p.Y394N	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	687	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)										0.714286	14.475338	14.763041	5	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233345520	233345520	5078	2	A	T	T	T	195	15	ECEL1	3	3
HJURP	55355	broad.mit.edu	37	2	234750380	234750380	+	Missense_Mutation	SNP	C	A	A	rs34042006		TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234750380C>A	uc002vvg.2	-	c.1046G>T	c.(1045-1047)CGT>CTT	p.R349L	HJURP_uc010znd.1_Missense_Mutation_p.R288L|HJURP_uc010zne.1_Missense_Mutation_p.R257L	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	349					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)										0.125	8.865565	15.418096	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234750380	234750380	7480	2	C	A	A	A	247	19	HJURP	1	1
COL6A3	1293	broad.mit.edu	37	2	238303320	238303320	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238303320G>T	uc002vwl.2	-	c.619C>A	c.(619-621)CAT>AAT	p.H207N	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.H207N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	207	VWFA 1.|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)										0.290323	23.273799	24.488429	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238303320	238303320	3839	2	G	T	T	T	585	45	COL6A3	2	2
DNMT3A	1788	broad.mit.edu	37	2	25463556	25463556	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:25463556G>A	uc002rgc.2	-	c.2126C>T	c.(2125-2127)CCC>CTC	p.P709L	DNMT3A_uc002rgd.2_Missense_Mutation_p.P709L|DNMT3A_uc010eyi.2_Non-coding_Transcript|DNMT3A_uc002rgb.2_Missense_Mutation_p.P520L	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	709					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(107)|ovary(3)	110	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.14	23.279526	35.796769	14	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25463556	25463556	4859	2	G	A	A	A	559	43	DNMT3A	2	2
C2orf16	84226	broad.mit.edu	37	2	27804470	27804470	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27804470C>T	uc002rkz.3	+	c.5031C>T	c.(5029-5031)AGC>AGT	p.S1677S	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1677	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.188406	49.130972	61.62814	26	112	KEEP	---	---	---	---	capture		Silent	SNP	27804470	27804470	2243	2	C	T	T	T	337	26	C2orf16	2	2
SLC8A1	6546	broad.mit.edu	37	2	40366585	40366585	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40366585G>C	uc002rrx.2	-	c.2501C>G	c.(2500-2502)TCT>TGT	p.S834C	SLC8A1_uc002rry.2_Missense_Mutation_p.S829C|SLC8A1_uc002rrz.2_Missense_Mutation_p.S821C|SLC8A1_uc002rsa.2_Missense_Mutation_p.S798C|SLC8A1_uc002rsd.3_Missense_Mutation_p.S798C	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	834	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.228571	41.663387	46.394036	16	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40366585	40366585	15203	2	G	C	C	C	429	33	SLC8A1	3	3
DYNC2LI1	51626	broad.mit.edu	37	2	44016839	44016839	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44016839C>G	uc002rtl.2	+	c.299C>G	c.(298-300)CCC>CGC	p.P100R	DYNC2LI1_uc002rth.2_Missense_Mutation_p.P100R|DYNC2LI1_uc002rti.2_Missense_Mutation_p.P100R|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.P100R|DYNC2LI1_uc002rtk.2_Missense_Mutation_p.P100R|DYNC2LI1_uc010ynz.1_5'UTR	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	100						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.191781	30.510783	36.987765	14	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44016839	44016839	5033	2	C	G	G	G	286	22	DYNC2LI1	3	3
NRXN1	9378	broad.mit.edu	37	2	50758512	50758512	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50758512C>A	uc010fbq.2	-	c.2320G>T	c.(2320-2322)GTC>TTC	p.V774F	NRXN1_uc002rxb.3_Missense_Mutation_p.V406F|NRXN1_uc002rxe.3_Missense_Mutation_p.V734F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.205882	16.906473	19.633093	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50758512	50758512	11070	2	C	A	A	A	260	20	NRXN1	2	2
MTIF2	4528	broad.mit.edu	37	2	55481789	55481789	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55481789C>A	uc002ryn.2	-	c.503_splice	c.e7+1	p.R168_splice	MTIF2_uc010yox.1_Splice_Site_SNP|MTIF2_uc002ryo.2_Splice_Site_SNP_p.R168_splice	NM_001005369	NP_001005369			mitochondrial translational initiation factor 2						regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1														0.15625	18.818282	26.031329	10	54	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	55481789	55481789	10327	2	C	A	A	A	234	18	MTIF2	5	2
DYSF	8291	broad.mit.edu	37	2	71747322	71747322	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71747322C>A	uc010fen.2	+	c.1017C>A	c.(1015-1017)ACC>ACA	p.T339T	DYSF_uc010feg.2_Silent_p.T338T|DYSF_uc010feh.2_Silent_p.T307T|DYSF_uc002sig.3_Silent_p.T307T|DYSF_uc010yqx.1_Non-coding_Transcript|DYSF_uc010fee.2_Silent_p.T307T|DYSF_uc010fef.2_Silent_p.T338T|DYSF_uc002sie.2_Silent_p.T307T|DYSF_uc010fei.2_Silent_p.T338T|DYSF_uc010fek.2_Silent_p.T339T|DYSF_uc010fej.2_Silent_p.T308T|DYSF_uc010fel.2_Silent_p.T308T|DYSF_uc010feo.2_Silent_p.T339T|DYSF_uc010fem.2_Silent_p.T308T|DYSF_uc002sif.2_Silent_p.T308T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	dysferlin isoform 1	307	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.16	36.319217	50.080557	20	105	KEEP	---	---	---	---	capture		Silent	SNP	71747322	71747322	5045	2	C	A	A	A	262	21	DYSF	2	2
CYP26B1	56603	broad.mit.edu	37	2	72359591	72359591	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:72359591C>A	uc002sih.1	-	c.1304G>T	c.(1303-1305)GGT>GTT	p.G435V	CYP26B1_uc010yra.1_Missense_Mutation_p.G418V|CYP26B1_uc010yrb.1_Missense_Mutation_p.G360V	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	435					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|oxidation-reduction process|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding				0														0.26087	16.339666	17.529955	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72359591	72359591	4321	2	C	A	A	A	234	18	CYP26B1	2	2
SEMA4F	10505	broad.mit.edu	37	2	74900622	74900622	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74900622G>T	uc002sna.1	+	c.589G>T	c.(589-591)GGG>TGG	p.G197W	SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Missense_Mutation_p.G164W|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	197	Sema.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)	3														0.195122	17.376119	20.929998	8	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74900622	74900622	14521	2	G	T	T	T	559	43	SEMA4F	2	2
REG1A	5967	broad.mit.edu	37	2	79349191	79349191	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79349191G>A	uc002snz.2	+	c.261G>A	c.(259-261)CTG>CTA	p.L87L	REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Silent_p.L87L	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	87	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0														0.245283	64.494777	70.760864	26	80	KEEP	---	---	---	---	capture		Silent	SNP	79349191	79349191	13679	2	G	A	A	A	574	45	REG1A	2	2
MYH15	22989	broad.mit.edu	37	3	108112926	108112926	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108112926C>A	uc003dxa.1	-	c.5271G>T	c.(5269-5271)GTG>GTT	p.V1757V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1757	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7														0.112245	8.579828	23.119112	11	87	KEEP	---	---	---	---	capture		Silent	SNP	108112926	108112926	10429	3	C	A	A	A	314	25	MYH15	2	2
CCDC80	151887	broad.mit.edu	37	3	112358551	112358551	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112358551C>A	uc003dzf.2	-	c.202G>T	c.(202-204)GAA>TAA	p.E68*	CCDC80_uc011bhv.1_Nonsense_Mutation_p.E68*|CCDC80_uc003dzg.2_Nonsense_Mutation_p.E68*|CCDC80_uc003dzh.1_Nonsense_Mutation_p.E68*	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	68										ovary(2)	2														0.417722	90.830787	91.278371	33	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	112358551	112358551	2978	3	C	A	A	A	390	30	CCDC80	5	2
BOC	91653	broad.mit.edu	37	3	112992161	112992161	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112992161G>C	uc003dzz.2	+	c.1207G>C	c.(1207-1209)GTA>CTA	p.V403L	BOC_uc003dzx.2_Missense_Mutation_p.V403L|BOC_uc003dzy.2_Missense_Mutation_p.V403L|BOC_uc003eab.2_Missense_Mutation_p.V104L	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	403	Ig-like C2-type 4.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)											0.294118	12.970229	13.614162	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112992161	112992161	1506	3	G	C	C	C	520	40	BOC	3	3
GRAMD1C	54762	broad.mit.edu	37	3	113658766	113658766	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113658766G>A	uc003eaq.3	+	c.1725G>A	c.(1723-1725)CTG>CTA	p.L575L	GRAMD1C_uc011bil.1_Non-coding_Transcript|GRAMD1C_uc003ear.2_Silent_p.L408L|GRAMD1C_uc003eas.2_Silent_p.L370L|GRAMD1C_uc003eat.2_Silent_p.L234L	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	575	Helical; (Potential).					integral to membrane				ovary(2)	2														0.178947	33.140036	42.337935	17	78	KEEP	---	---	---	---	capture		Silent	SNP	113658766	113658766	7025	3	G	A	A	A	613	48	GRAMD1C	2	2
CD86	942	broad.mit.edu	37	3	121838342	121838342	+	Silent	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121838342G>C	uc003eet.2	+	c.951G>C	c.(949-951)TCG>TCC	p.S317S	CD86_uc011bjo.1_Silent_p.S235S|CD86_uc011bjp.1_Silent_p.S205S|CD86_uc003eeu.2_Silent_p.S311S	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	317	Cytoplasmic (Potential).				cell-cell signaling|interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	integral to membrane	coreceptor activity|protein binding|transcription activator activity			pancreas(1)	1				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GBM(67;1379 1389 36064 39806)								0.157143	25.781816	33.628834	11	59	KEEP	---	---	---	---	capture		Silent	SNP	121838342	121838342	3171	3	G	C	C	C	470	37	CD86	3	3
CASR	846	broad.mit.edu	37	3	122002778	122002778	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122002778C>T	uc003eew.3	+	c.2007C>T	c.(2005-2007)CTC>CTT	p.L669L	CASR_uc003eev.3_Silent_p.L659L	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	659	Helical; Name=2; (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)									0.084211	2.122939	18.801913	8	87	KEEP	---	---	---	---	capture		Silent	SNP	122002778	122002778	2801	3	C	T	T	T	405	32	CASR	2	2
SYN2	6854	broad.mit.edu	37	3	12209921	12209921	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12209921G>T	uc003bwm.2	+	c.1101G>T	c.(1099-1101)CTG>CTT	p.L367L	SYN2_uc003bwl.1_Silent_p.L367L|SYN2_uc003bwn.2_Silent_p.L41L	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	synapsin II isoform IIa	367					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2														0.184615	26.961227	33.024883	12	53	KEEP	---	---	---	---	capture		Silent	SNP	12209921	12209921	15962	3	G	T	T	T	600	47	SYN2	2	2
A4GNT	51146	broad.mit.edu	37	3	137850093	137850093	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137850093C>T	uc003ers.2	-	c.6G>A	c.(4-6)CGG>CGA	p.R2R		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	2	Cytoplasmic (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1														0.271739	64.241263	68.559438	25	67	KEEP	---	---	---	---	capture		Silent	SNP	137850093	137850093	8	3	C	T	T	T	379	30	A4GNT	2	2
SLC25A36	55186	broad.mit.edu	37	3	140678316	140678316	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140678316A>G	uc003etr.2	+	c.218A>G	c.(217-219)GAA>GGA	p.E73G	SLC25A36_uc003etp.2_Missense_Mutation_p.E73G|SLC25A36_uc003ets.2_Missense_Mutation_p.E73G|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Intron	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	solute carrier family 25, member 36 isoform a	73	Solcar 1.				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0														0.3	9.421351	9.778555	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140678316	140678316	14997	3	A	G	G	G	117	9	SLC25A36	4	4
ACPL2	92370	broad.mit.edu	37	3	141011154	141011154	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141011154T>A	uc003etu.2	+	c.550T>A	c.(550-552)TAT>AAT	p.Y184N	ACPL2_uc003etv.2_Missense_Mutation_p.Y184N|ACPL2_uc011bna.1_Missense_Mutation_p.Y146N|ACPL2_uc011bnb.1_Missense_Mutation_p.Y167N	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	184						extracellular region	acid phosphatase activity				0														0.303665	159.777235	166.348326	58	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141011154	141011154	167	3	T	A	A	A	689	53	ACPL2	3	3
XRN1	54464	broad.mit.edu	37	3	142090172	142090172	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142090172T>A	uc003eus.2	-	c.2979_splice	c.e26-1	p.R993_splice	XRN1_uc010huu.2_Splice_Site_SNP_p.R459_splice|XRN1_uc003eut.2_Splice_Site_SNP_p.R993_splice|XRN1_uc003euu.2_Splice_Site_SNP_p.R993_splice	NM_019001	NP_061874			5'-3' exoribonuclease 1 isoform a						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3														0.310345	27.264724	28.193607	9	20	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	142090172	142090172	18042	3	T	A	A	A	715	55	XRN1	5	3
FGD5	152273	broad.mit.edu	37	3	14905647	14905647	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14905647G>A	uc003bzc.2	+	c.2538G>A	c.(2536-2538)GAG>GAA	p.E846E	FGD5_uc011avk.1_Silent_p.E846E	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	846					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.266667	110.820035	118.941922	44	121	KEEP	---	---	---	---	capture		Silent	SNP	14905647	14905647	6073	3	G	A	A	A	438	34	FGD5	2	2
CAPN7	23473	broad.mit.edu	37	3	15282982	15282982	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:15282982C>T	uc003bzn.2	+	c.1675C>T	c.(1675-1677)CCT>TCT	p.P559S		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	calpain 7	559	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1														0.275862	40.273946	42.898282	16	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15282982	15282982	2749	3	C	T	T	T	234	18	CAPN7	2	2
PPM1L	151742	broad.mit.edu	37	3	160474254	160474254	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160474254G>T	uc003fdr.2	+	c.158G>T	c.(157-159)CGG>CTG	p.R53L		NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	53	Cytoplasmic (Potential).				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			Pancreas(86;250 1994 13715 43211)								0.453125	90.869685	90.991735	29	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160474254	160474254	12779	3	G	T	T	T	507	39	PPM1L	1	1
TBC1D5	9779	broad.mit.edu	37	3	17413737	17413737	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17413737C>A	uc010hev.2	-	c.825G>T	c.(823-825)GGG>GGT	p.G275G	TBC1D5_uc003cbf.2_Silent_p.G275G|TBC1D5_uc003cbe.2_Silent_p.G275G|TBC1D5_uc010hew.1_Silent_p.G227G	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform a	275	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1														0.285714	23.130501	24.576291	10	25	KEEP	---	---	---	---	capture		Silent	SNP	17413737	17413737	16149	3	C	A	A	A	379	30	TBC1D5	2	2
CCDC39	339829	broad.mit.edu	37	3	180366106	180366106	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180366106A>T	uc010hxe.2	-	c.1209T>A	c.(1207-1209)TTT>TTA	p.F403L	CCDC39_uc003fkn.2_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	403	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)											0.37069	124.897086	126.600526	43	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180366106	180366106	2933	3	A	T	T	T	167	13	CCDC39	3	3
EPHB3	2049	broad.mit.edu	37	3	184295235	184295235	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184295235G>T	uc003foz.2	+	c.1459G>T	c.(1459-1461)GAG>TAG	p.E487*		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	487	Fibronectin type-III 2.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(2)|breast(2)|ovary(1)|skin(1)	6	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)							292				0.230769	23.058234	25.646285	9	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	184295235	184295235	5369	3	G	T	T	T	481	37	EPHB3	5	1
SLC22A13	9390	broad.mit.edu	37	3	38316907	38316907	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38316907G>T	uc003chz.3	+	c.853G>T	c.(853-855)GAC>TAC	p.D285Y	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Missense_Mutation_p.D285Y	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	285	Cytoplasmic (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)										0.25	21.056348	23.102755	9	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38316907	38316907	14940	3	G	T	T	T	533	41	SLC22A13	2	2
NME6	10201	broad.mit.edu	37	3	48337625	48337625	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48337625C>T	uc003cso.2	-	c.241G>A	c.(241-243)GTG>ATG	p.V81M	NME6_uc011bbh.1_Intron|NME6_uc010hju.2_Intron|NME6_uc003csp.3_Missense_Mutation_p.V73M|NME6_uc011bbi.1_Intron	NM_005793	NP_005784	O75414	NDK6_HUMAN	nucleoside diphosphate kinase type 6	73					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)										0.354839	57.633582	58.783824	22	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48337625	48337625	10898	3	C	T	T	T	234	18	NME6	2	2
ITIH4	3700	broad.mit.edu	37	3	52854649	52854649	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52854649C>A	uc011bem.1	-	c.1832G>T	c.(1831-1833)GGC>GTC	p.G611V	ITIH4_uc011bel.1_Missense_Mutation_p.G341V|ITIH4_uc003dfy.2_Missense_Mutation_p.G475V|ITIH4_uc011ben.1_Missense_Mutation_p.G611V|ITIH4_uc003dfz.2_Missense_Mutation_p.G611V	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	611					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)								OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.454545	13.972742	13.992627	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52854649	52854649	8210	3	C	A	A	A	338	26	ITIH4	2	2
ACTR8	93973	broad.mit.edu	37	3	53911340	53911340	+	Silent	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:53911340T>A	uc003dhd.2	-	c.585A>T	c.(583-585)CCA>CCT	p.P195P	ACTR8_uc003dhb.2_5'UTR|ACTR8_uc003dhc.2_Silent_p.P84P	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	195					cell division|mitosis	chromosome|nucleus				ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)										0.348837	46.113625	46.980007	15	28	KEEP	---	---	---	---	capture		Silent	SNP	53911340	53911340	218	3	T	A	A	A	704	55	ACTR8	3	3
DNAH12	201625	broad.mit.edu	37	3	57494913	57494913	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:57494913C>A	uc003dit.2	-	c.496G>T	c.(496-498)GTT>TTT	p.V166F	DNAH12_uc003diu.2_Missense_Mutation_p.V166F	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	166	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)	1														0.188679	22.416721	27.225041	10	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57494913	57494913	4782	3	C	A	A	A	260	20	DNAH12	2	2
FAM107A	11170	broad.mit.edu	37	3	58552961	58552961	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58552961G>A	uc003dko.2	-	c.394C>T	c.(394-396)CTG>TTG	p.L132L	FAM107A_uc003dkm.2_Silent_p.L101L|FAM107A_uc003dkn.2_Silent_p.L101L|FAM107A_uc010hnm.2_Silent_p.L129L|FAM107A_uc003dkp.1_Silent_p.L101L	NM_007177	NP_009108	O95990	F107A_HUMAN	downregulated in renal cell carcinoma	101	Potential.				regulation of cell growth	nucleus	protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)										0.344828	27.444548	28.059614	10	19	KEEP	---	---	---	---	capture		Silent	SNP	58552961	58552961	5586	3	G	A	A	A	438	34	FAM107A	2	2
CADM2	253559	broad.mit.edu	37	3	85984933	85984933	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:85984933G>T	uc003dql.2	+	c.696G>T	c.(694-696)AAG>AAT	p.K232N	CADM2_uc003dqj.2_Missense_Mutation_p.K230N|CADM2_uc003dqk.2_Missense_Mutation_p.K239N	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	230	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)	3		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)										0.292308	51.49858	54.00959	19	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85984933	85984933	2683	3	G	T	T	T	425	33	CADM2	2	2
OR5K1	26339	broad.mit.edu	37	3	98189145	98189145	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98189145C>A	uc003dsm.2	+	c.725C>A	c.(724-726)GCA>GAA	p.A242E		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.169643	35.651018	47.223327	19	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98189145	98189145	11576	3	C	A	A	A	325	25	OR5K1	2	2
ADH1B	125	broad.mit.edu	37	4	100237232	100237232	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100237232C>A	uc003hus.3	-	c.390G>T	c.(388-390)AGG>AGT	p.R130S	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.R90S|ADH1B_uc011ceh.1_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.R90S	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	130				Missing (in Ref. 12; AA sequence).	ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)									0.192308	18.719759	23.244064	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100237232	100237232	309	4	C	A	A	A	233	18	ADH1B	2	2
ALPK1	80216	broad.mit.edu	37	4	113345153	113345153	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113345153G>T	uc003iap.3	+	c.529G>T	c.(529-531)GCA>TCA	p.A177S	ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003ian.3_Missense_Mutation_p.A177S|ALPK1_uc011cfx.1_Missense_Mutation_p.A99S|ALPK1_uc003iao.3_Non-coding_Transcript|ALPK1_uc010imo.2_5'UTR	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	177					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)						252				0.151515	24.056227	35.587179	15	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113345153	113345153	547	4	G	T	T	T	442	34	ALPK1	2	2
ALPK1	80216	broad.mit.edu	37	4	113351753	113351753	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113351753G>A	uc003iap.3	+	c.1050G>A	c.(1048-1050)GAG>GAA	p.E350E	ALPK1_uc003ian.3_Silent_p.E350E|ALPK1_uc011cfx.1_Silent_p.E272E|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.E178E	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	350					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)						252				0.148936	11.40185	16.95409	7	40	KEEP	---	---	---	---	capture		Silent	SNP	113351753	113351753	547	4	G	A	A	A	438	34	ALPK1	2	2
ANK2	287	broad.mit.edu	37	4	114238882	114238882	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114238882G>T	uc003ibe.3	+	c.2713G>T	c.(2713-2715)GAC>TAC	p.D905Y	ANK2_uc003ibd.3_Missense_Mutation_p.D884Y|ANK2_uc003ibf.3_Missense_Mutation_p.D905Y|ANK2_uc011cgc.1_Missense_Mutation_p.D114Y|ANK2_uc003ibg.3_5'Flank|ANK2_uc003ibc.2_Missense_Mutation_p.D881Y|ANK2_uc011cgb.1_Missense_Mutation_p.D920Y	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	905					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.185714	28.43999	34.917445	13	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114238882	114238882	624	4	G	T	T	T	481	37	ANK2	1	1
KIAA1109	84162	broad.mit.edu	37	4	123264574	123264575	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123264574_123264575GA>TT	uc003ieh.2	+	c.12362_12363GA>TT	c.(12361-12363)GGA>GTT	p.G4121V	KIAA1109_uc003iem.2_Missense_Mutation_p.G477V|KIAA1109_uc003ien.2_Missense_Mutation_p.G55V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4121	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.254902	31.850545	34.630638	13	38	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	123264574	123264575	8516	4	GA	TT	TT	TT	533	41	KIAA1109	2	2
ANKRD50	57182	broad.mit.edu	37	4	125592488	125592488	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:125592488C>A	uc003ifg.3	-	c.1944G>T	c.(1942-1944)TTG>TTT	p.L648F	ANKRD50_uc011cgo.1_Missense_Mutation_p.L469F|ANKRD50_uc010inw.2_Missense_Mutation_p.L648F	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	648	ANK 6.									central_nervous_system(1)	1														0.291667	53.34223	56.143924	21	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125592488	125592488	685	4	C	A	A	A	376	29	ANKRD50	2	2
BOD1L	259282	broad.mit.edu	37	4	13603790	13603790	+	Silent	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13603790T>C	uc003gmz.1	-	c.4734A>G	c.(4732-4734)GCA>GCG	p.A1578A	BOD1L_uc010idr.1_Silent_p.A915A	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1578							DNA binding			ovary(5)|breast(1)	6														0.2	15.205368	18.135173	7	28	KEEP	---	---	---	---	capture		Silent	SNP	13603790	13603790	1508	4	T	C	C	C	704	55	BOD1L	4	4
BOD1L	259282	broad.mit.edu	37	4	13616186	13616186	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13616186C>G	uc003gmz.1	-	c.808G>C	c.(808-810)GGA>CGA	p.G270R	BOD1L_uc010idr.1_5'UTR|BOD1L_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	270							DNA binding			ovary(5)|breast(1)	6														0.2	23.089772	27.698258	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13616186	13616186	1508	4	C	G	G	G	312	24	BOD1L	3	3
OTUD4	54726	broad.mit.edu	37	4	146071687	146071687	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146071687G>A	uc003ika.3	-	c.1042C>T	c.(1042-1044)CGG>TGG	p.R348W	OTUD4_uc003ijz.3_Missense_Mutation_p.R347W	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	412							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)													0.2	28.770385	33.789122	12	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146071687	146071687	11727	4	G	A	A	A	506	39	OTUD4	1	1
TTC29	83894	broad.mit.edu	37	4	147755028	147755028	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:147755028T>A	uc003ikx.3	-	c.985A>T	c.(985-987)ATC>TTC	p.I329F	TTC29_uc003ikw.3_Missense_Mutation_p.I303F|TTC29_uc010ipc.2_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.I303F	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	303	TPR 3.						binding				0	all_hematologic(180;0.151)													0.3	31.883506	33.313575	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147755028	147755028	17251	4	T	A	A	A	676	52	TTC29	3	3
FGG	2266	broad.mit.edu	37	4	155528068	155528068	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155528068G>A	uc003iok.2	-	c.942C>T	c.(940-942)TAC>TAT	p.Y314Y	FGG_uc003iog.2_Silent_p.Y306Y|FGG_uc003ioh.2_Silent_p.Y314Y|FGG_uc010ipx.2_Silent_p.Y134Y|FGG_uc010ipy.2_Silent_p.Y17Y|FGG_uc003ioi.2_Silent_p.Y17Y|FGG_uc003ioj.2_Silent_p.Y306Y	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	306	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)									0.235714	80.790404	89.745454	33	107	KEEP	---	---	---	---	capture		Silent	SNP	155528068	155528068	6107	4	G	A	A	A	464	36	FGG	2	2
TLL1	7092	broad.mit.edu	37	4	167012460	167012460	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:167012460C>A	uc011cjn.1	+	c.2692C>A	c.(2692-2694)CAA>AAA	p.Q898K	TLL1_uc003irh.1_Missense_Mutation_p.Q875K|TLL1_uc011cjo.1_Missense_Mutation_p.Q699K	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	875	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)										0.318182	18.637431	19.273276	7	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167012460	167012460	16475	4	C	A	A	A	377	29	TLL1	2	2
FAT1	2195	broad.mit.edu	37	4	187542290	187542290	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187542290T>C	uc003izf.2	-	c.5450A>G	c.(5449-5451)CAC>CGC	p.H1817R		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1817	Extracellular (Potential).|Cadherin 16.				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)								0.166667	14.701962	19.123687	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187542290	187542290	5925	4	T	C	C	C	767	59	FAT1	4	4
SLIT2	9353	broad.mit.edu	37	4	20530698	20530698	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20530698A>T	uc003gpr.1	+	c.1589A>T	c.(1588-1590)CAC>CTC	p.H530L	SLIT2_uc003gps.1_Missense_Mutation_p.H522L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	530	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.214286	38.492623	44.84075	18	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20530698	20530698	15238	4	A	T	T	T	78	6	SLIT2	3	3
SLIT2	9353	broad.mit.edu	37	4	20619254	20619254	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20619254G>T	uc003gpr.1	+	c.4329G>T	c.(4327-4329)ACG>ACT	p.T1443T	SLIT2_uc003gps.1_Silent_p.T1435T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1443					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.363636	9.368362	9.559249	4	7	KEEP	---	---	---	---	capture		Silent	SNP	20619254	20619254	15238	4	G	T	T	T	496	39	SLIT2	1	1
SEPSECS	51091	broad.mit.edu	37	4	25128906	25128906	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:25128906G>A	uc003grg.2	-	c.1100C>T	c.(1099-1101)CCT>CTT	p.P367L	SEPSECS_uc003gri.2_Missense_Mutation_p.P366L|SEPSECS_uc003grh.2_Missense_Mutation_p.P288L	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	367					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding				0		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)									0.180328	25.585938	31.448267	11	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25128906	25128906	14544	4	G	A	A	A	455	35	SEPSECS	2	2
ADD1	118	broad.mit.edu	37	4	2883767	2883767	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2883767G>T	uc003gfq.2	+	c.338G>T	c.(337-339)GGG>GTG	p.G113V	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.G113V|ADD1_uc003gfo.2_Missense_Mutation_p.G113V|ADD1_uc003gfp.2_Missense_Mutation_p.G113V|ADD1_uc003gfr.2_Missense_Mutation_p.G113V|ADD1_uc003gfs.2_Missense_Mutation_p.G113V|ADD1_uc003gft.3_Missense_Mutation_p.G113V	NM_014189	NP_054908	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform b	113					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		Esophageal Squamous(71;505 1201 20414 34538 37449)								0.226131	106.977639	120.683643	45	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2883767	2883767	305	4	G	T	T	T	559	43	ADD1	2	2
ARAP2	116984	broad.mit.edu	37	4	36230755	36230755	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:36230755C>T	uc003gsq.1	-	c.354G>A	c.(352-354)CCG>CCA	p.P118P	ARAP2_uc003gsr.1_Silent_p.P118P	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	118					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.091954	2.840164	17.4267	8	79	KEEP	---	---	---	---	capture		Silent	SNP	36230755	36230755	850	4	C	T	T	T	340	27	ARAP2	1	1
FAM114A1	92689	broad.mit.edu	37	4	38879976	38879976	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38879976G>T	uc003gtn.2	+	c.277G>T	c.(277-279)GAA>TAA	p.E93*	FAM114A1_uc011byh.1_Intron|FAM114A1_uc011byg.1_Nonsense_Mutation_p.E93*	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	93						cytoplasm				ovary(1)	1														0.264151	35.524531	38.190853	14	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38879976	38879976	5600	4	G	T	T	T	585	45	FAM114A1	5	2
WDR19	57728	broad.mit.edu	37	4	39279780	39279780	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39279780G>T	uc003gtv.2	+	c.3870G>T	c.(3868-3870)ACG>ACT	p.T1290T	WDR19_uc011byi.1_Silent_p.T1130T	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1290					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1														0.157895	6.620037	8.734156	3	16	KEEP	---	---	---	---	capture		Silent	SNP	39279780	39279780	17852	4	G	T	T	T	496	39	WDR19	1	1
PDS5A	23244	broad.mit.edu	37	4	39839659	39839659	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39839659G>C	uc003guv.3	-	c.3827C>G	c.(3826-3828)TCT>TGT	p.S1276C	PDS5A_uc010ifo.2_Missense_Mutation_p.S1236C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1276					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0														0.147059	9.049979	13.122298	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39839659	39839659	12112	4	G	C	C	C	429	33	PDS5A	3	3
RBM47	54502	broad.mit.edu	37	4	40440354	40440354	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40440354C>G	uc003gvc.2	-	c.557G>C	c.(556-558)AGC>ACC	p.S186T	RBM47_uc003gvd.2_Missense_Mutation_p.S186T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.S148T|RBM47_uc003gvg.1_Missense_Mutation_p.S186T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	186	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(3)	3														0.235294	18.078087	20.263954	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40440354	40440354	13603	4	C	G	G	G	364	28	RBM47	3	3
BEND4	389206	broad.mit.edu	37	4	42122223	42122223	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:42122223C>T	uc003gwn.2	-	c.1235G>A	c.(1234-1236)AGA>AAA	p.R412K	BEND4_uc003gwm.2_Missense_Mutation_p.R412K|BEND4_uc011byy.1_Missense_Mutation_p.R412K	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	412	BEN.										0														0.196078	22.319165	26.711182	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42122223	42122223	1423	4	C	T	T	T	416	32	BEND4	2	2
GRXCR1	389207	broad.mit.edu	37	4	42895294	42895294	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:42895294G>T	uc003gwt.2	+	c.11G>T	c.(10-12)AGG>ATG	p.R4M		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	4					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1														0.096154	2.795089	11.2473	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42895294	42895294	7092	4	G	T	T	T	455	35	GRXCR1	2	2
GABRA2	2555	broad.mit.edu	37	4	46252500	46252500	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46252500G>A	uc003gxc.3	-	c.1181C>T	c.(1180-1182)CCA>CTA	p.P394L	GABRA2_uc010igc.2_Missense_Mutation_p.P394L|GABRA2_uc011bzc.1_Missense_Mutation_p.P399L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	394	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.198276	51.071376	60.894116	23	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46252500	46252500	6412	4	G	A	A	A	611	47	GABRA2	2	2
KDR	3791	broad.mit.edu	37	4	55972029	55972029	+	Missense_Mutation	SNP	C	T	T	rs55716939		TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55972029C>T	uc003has.2	-	c.1615G>A	c.(1615-1617)GGA>AGA	p.G539R	KDR_uc003hat.1_Missense_Mutation_p.G539R|KDR_uc011bzx.1_Missense_Mutation_p.G539R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	539	Ig-like C2-type 5.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)				p.G539*(J82-Tumor)|p.G539*(OE19-Tumor)	1022	TSP Lung(20;0.16)			0.206587	166.70774	193.34872	69	265	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55972029	55972029	8445	4	C	T	T	T	312	24	KDR	2	2
AASDH	132949	broad.mit.edu	37	4	57220230	57220230	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57220230C>A	uc003hbn.2	-	c.1358G>T	c.(1357-1359)CGT>CTT	p.R453L	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.R300L|AASDH_uc003hbo.2_Missense_Mutation_p.R353L|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Missense_Mutation_p.R453L|AASDH_uc003hbp.2_Missense_Mutation_p.R453L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	453					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)												0.162791	15.298752	19.944634	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57220230	57220230	23	4	C	A	A	A	247	19	AASDH	1	1
C4orf50	389197	broad.mit.edu	37	4	5975502	5975502	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5975502C>A	uc003git.1	-	c.292G>T	c.(292-294)GAG>TAG	p.E98*		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	98										pancreas(2)|breast(1)	3														0.230769	19.954926	22.545872	9	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5975502	5975502	2373	4	C	A	A	A	390	30	C4orf50	5	2
LPHN3	23284	broad.mit.edu	37	4	62598825	62598825	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62598825C>A	uc010ihh.2	+	c.748C>A	c.(748-750)CAT>AAT	p.H250N	LPHN3_uc003hcq.3_Missense_Mutation_p.H250N|LPHN3_uc010ihg.1_Missense_Mutation_p.H318N|LPHN3_uc003hcs.1_Missense_Mutation_p.H79N	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	250	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.290323	23.661033	24.883291	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62598825	62598825	9290	4	C	A	A	A	273	21	LPHN3	2	2
UGT2B10	7365	broad.mit.edu	37	4	69693248	69693248	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69693248C>G	uc003hee.2	+	c.1289C>G	c.(1288-1290)ACA>AGA	p.T430R	UGT2B10_uc011cam.1_Missense_Mutation_p.T346R	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	430					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(2)	2						Melanoma(133;755 1763 25578 26334 46021)								0.185185	46.33151	56.371342	20	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69693248	69693248	17514	4	C	G	G	G	221	17	UGT2B10	3	3
ENAM	10117	broad.mit.edu	37	4	71510331	71510331	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71510331C>G	uc011caw.1	+	c.3188C>G	c.(3187-3189)GCA>GGA	p.A1063G		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	1063					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)											0.166667	41.020838	53.088437	19	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71510331	71510331	5305	4	C	G	G	G	325	25	ENAM	3	3
HERC6	55008	broad.mit.edu	37	4	89318022	89318022	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89318022G>T	uc011cdi.1	+	c.907G>T	c.(907-909)GTG>TTG	p.V303L	HERC6_uc003hrp.1_Intron|HERC6_uc011cdj.1_Missense_Mutation_p.V303L|HERC6_uc011cdk.1_Non-coding_Transcript|HERC6_uc011cdl.1_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	303	RCC1 5.				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)										0.20339	26.764354	31.585591	12	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89318022	89318022	7345	4	G	T	T	T	624	48	HERC6	2	2
MMRN1	22915	broad.mit.edu	37	4	90872775	90872775	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90872775T>A	uc003hst.2	+	c.3138T>A	c.(3136-3138)AGT>AGA	p.S1046R	MMRN1_uc010iku.2_Missense_Mutation_p.S349R|MMRN1_uc011cds.1_Missense_Mutation_p.S788R	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	1046	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)										0.23913	25.101947	27.961219	11	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90872775	90872775	10061	4	T	A	A	A	751	58	MMRN1	3	3
FER	2241	broad.mit.edu	37	5	108380495	108380495	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:108380495A>T	uc003kop.1	+	c.1828A>T	c.(1828-1830)AAA>TAA	p.K610*	FER_uc011cvg.1_Nonsense_Mutation_p.K435*	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	610	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)|kidney(1)	4		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		Colon(146;1051 1799 9836 27344 47401)				232				0.24	28.574862	31.660213	12	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108380495	108380495	6050	5	A	T	T	T	65	5	FER	5	3
CTNND2	1501	broad.mit.edu	37	5	11199628	11199628	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11199628C>A	uc003jfa.1	-	c.1907G>T	c.(1906-1908)GGT>GTT	p.G636V	CTNND2_uc010itt.2_Missense_Mutation_p.G545V|CTNND2_uc011cmy.1_Missense_Mutation_p.G299V|CTNND2_uc011cmz.1_Missense_Mutation_p.G203V|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G203V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	636	ARM 4.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.143382	65.041351	98.285497	39	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11199628	11199628	4179	5	C	A	A	A	234	18	CTNND2	2	2
PRR16	51334	broad.mit.edu	37	5	120022087	120022087	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:120022087G>C	uc003ksq.2	+	c.598G>C	c.(598-600)GGG>CGG	p.G200R	PRR16_uc003ksp.2_Missense_Mutation_p.G177R|PRR16_uc003ksr.2_Missense_Mutation_p.G130R	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	200	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)										0.358974	79.064462	80.435874	28	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120022087	120022087	13032	5	G	C	C	C	455	35	PRR16	3	3
KIF20A	10112	broad.mit.edu	37	5	137521276	137521276	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137521276T>G	uc003lcj.2	+	c.2002T>G	c.(2002-2004)TCA>GCA	p.S668A	KIF20A_uc011cyo.1_Missense_Mutation_p.S650A	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	668	Potential.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.283951	67.092661	70.487319	23	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137521276	137521276	8597	5	T	G	G	G	650	50	KIF20A	4	4
GFRA3	2676	broad.mit.edu	37	5	137589488	137589488	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137589488G>A	uc003lcn.2	-	c.991C>T	c.(991-993)CTG>TTG	p.L331L	GFRA3_uc003lco.2_Silent_p.L300L	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	331					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)											0.318182	20.517072	21.163586	7	15	KEEP	---	---	---	---	capture		Silent	SNP	137589488	137589488	6617	5	G	A	A	A	438	34	GFRA3	2	2
PCDHA7	56141	broad.mit.edu	37	5	140215843	140215843	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140215843G>T	uc003lhq.2	+	c.1875G>T	c.(1873-1875)GGG>GGT	p.G625G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.G625G	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	625	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			NSCLC(160;258 2013 5070 22440 28951)								0.375	38.848337	39.420307	15	25	KEEP	---	---	---	---	capture		Silent	SNP	140215843	140215843	11949	5	G	T	T	T	535	42	PCDHA7	2	2
PCDHB6	56130	broad.mit.edu	37	5	140530959	140530959	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140530959G>T	uc003lir.2	+	c.1121G>T	c.(1120-1122)GGA>GTA	p.G374V	PCDHB6_uc011dah.1_Missense_Mutation_p.G238V	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	374	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.313725	81.973081	85.117597	32	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140530959	140530959	11966	5	G	T	T	T	533	41	PCDHB6	2	2
PCDHB11	56125	broad.mit.edu	37	5	140581476	140581476	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140581476C>T	uc003liy.2	+	c.2129C>T	c.(2128-2130)GCG>GTG	p.A710V	PCDHB11_uc011daj.1_Missense_Mutation_p.A345V	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	710	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.48	70.693614	70.711083	24	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140581476	140581476	11956	5	C	T	T	T	351	27	PCDHB11	1	1
PCDHGA12	26025	broad.mit.edu	37	5	140810506	140810506	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140810506G>T	uc003lkt.1	+	c.180G>T	c.(178-180)GCG>GCT	p.A60A	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_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.A60A	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	60	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.428571	61.174496	61.388565	21	28	KEEP	---	---	---	---	capture		Silent	SNP	140810506	140810506	11973	5	G	T	T	T	496	39	PCDHGA12	1	1
SPINK5	11005	broad.mit.edu	37	5	147481425	147481425	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:147481425G>A	uc003loy.2	+	c.1384G>A	c.(1384-1386)GAT>AAT	p.D462N	SPINK5_uc010jgs.1_Missense_Mutation_p.D434N|SPINK5_uc010jgr.2_Missense_Mutation_p.D443N|SPINK5_uc003low.2_Missense_Mutation_p.D462N|SPINK5_uc003lox.2_Missense_Mutation_p.D462N	NM_001127698	NP_001121170	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	462	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.246575	42.498222	46.782127	18	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147481425	147481425	15574	5	G	A	A	A	429	33	SPINK5	2	2
GRIA1	2890	broad.mit.edu	37	5	153144084	153144084	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153144084G>T	uc011dcy.1	+	c.1944G>T	c.(1942-1944)CTG>CTT	p.L648L	GRIA1_uc003lva.3_Silent_p.L638L|GRIA1_uc003luy.3_Silent_p.L638L|GRIA1_uc003luz.3_Silent_p.L543L|GRIA1_uc011dcv.1_Non-coding_Transcript|GRIA1_uc011dcw.1_Silent_p.L558L|GRIA1_uc011dcx.1_Silent_p.L569L|GRIA1_uc011dcz.1_Silent_p.L648L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	638	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(1)	5		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.344262	57.553628	58.861699	21	40	KEEP	---	---	---	---	capture		Silent	SNP	153144084	153144084	7045	5	G	T	T	T	574	45	GRIA1	2	2
ADRA1B	147	broad.mit.edu	37	5	159344556	159344556	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:159344556C>T	uc003lxt.1	+	c.644C>T	c.(643-645)CCT>CTT	p.P215L		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	215	Helical; Name=5; (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)									0.188889	41.482542	49.586494	17	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159344556	159344556	336	5	C	T	T	T	312	24	ADRA1B	2	2
CDH12	1010	broad.mit.edu	37	5	21802410	21802410	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21802410G>C	uc010iuc.2	-	c.1122C>G	c.(1120-1122)AGC>AGG	p.S374R	CDH12_uc011cno.1_Missense_Mutation_p.S334R|CDH12_uc003jgk.2_Missense_Mutation_p.S374R	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	374	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.105263	4.491431	16.239156	8	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21802410	21802410	3227	5	G	C	C	C	490	38	CDH12	3	3
PRDM9	56979	broad.mit.edu	37	5	23522908	23522908	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23522908G>T	uc003jgo.2	+	c.796G>T	c.(796-798)GAT>TAT	p.D266Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	266	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.12	4.904806	12.013843	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23522908	23522908	12906	5	G	T	T	T	585	45	PRDM9	2	2
CDH10	1008	broad.mit.edu	37	5	24491817	24491817	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24491817G>A	uc003jgr.1	-	c.1744C>T	c.(1744-1746)CTG>TTG	p.L582L	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	582	Cadherin 5.|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)										0.132353	11.552816	20.461855	9	59	KEEP	---	---	---	---	capture		Silent	SNP	24491817	24491817	3225	5	G	A	A	A	464	36	CDH10	2	2
CDH10	1008	broad.mit.edu	37	5	24535332	24535332	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24535332C>A	uc003jgr.1	-	c.703G>T	c.(703-705)GTG>TTG	p.V235L	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	235	Cadherin 2.|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)										0.216667	29.846072	34.286328	13	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24535332	24535332	3225	5	C	A	A	A	260	20	CDH10	2	2
CDH9	1007	broad.mit.edu	37	5	26906108	26906108	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26906108C>A	uc003jgs.1	-	c.771G>T	c.(769-771)ACG>ACT	p.T257T	CDH9_uc010iug.2_Silent_p.T257T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	257	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)								0.452555	192.147062	192.412118	62	75	KEEP	---	---	---	---	capture		Silent	SNP	26906108	26906108	3246	5	C	A	A	A	340	27	CDH9	1	1
ADAMTS12	81792	broad.mit.edu	37	5	33630991	33630991	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33630991G>T	uc003jia.1	-	c.1916C>A	c.(1915-1917)CCC>CAC	p.P639H	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	639	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.377622	158.621885	160.498561	54	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33630991	33630991	258	5	G	T	T	T	559	43	ADAMTS12	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33881244	33881244	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33881244G>A	uc003jia.1	-	c.469C>T	c.(469-471)CTC>TTC	p.L157F	ADAMTS12_uc010iuq.1_Missense_Mutation_p.L157F|ADAMTS12_uc003jib.1_Missense_Mutation_p.L157F	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	157					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.12931	23.052384	38.483639	15	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33881244	33881244	258	5	G	A	A	A	455	35	ADAMTS12	2	2
AMACR	23600	broad.mit.edu	37	5	33989444	33989444	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33989444C>A	uc003jij.2	-	c.903G>T	c.(901-903)GAG>GAT	p.E301D	AMACR_uc003jig.2_Missense_Mutation_p.E301D|AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.E286D	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase isoform 1	301					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity				0														0.102362	11.400891	31.39731	13	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33989444	33989444	565	5	C	A	A	A	311	24	AMACR	2	2
CAPSL	133690	broad.mit.edu	37	5	35921095	35921095	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35921095C>A	uc003jjt.1	-	c.128G>T	c.(127-129)GGA>GTA	p.G43V	CAPSL_uc003jju.1_Missense_Mutation_p.G43V	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	43	EF-hand 1.					cytoplasm	calcium ion binding				0	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)											0.151515	37.677133	56.865955	25	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35921095	35921095	2758	5	C	A	A	A	390	30	CAPSL	2	2
SKP2	6502	broad.mit.edu	37	5	36184065	36184065	+	Silent	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36184065T>C	uc003jkd.2	+	c.1185T>C	c.(1183-1185)TGT>TGC	p.C395C		NM_032637	NP_116026	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 2	Error:Variant_position_missing_in_Q13309_after_alignment					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)	3	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)							161				0.044444	-15.530499	14.410062	6	129	KEEP	---	---	---	---	capture		Silent	SNP	36184065	36184065	14857	5	T	C	C	C	738	57	SKP2	4	4
EGFLAM	133584	broad.mit.edu	37	5	38451444	38451444	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38451444C>A	uc003jlc.1	+	c.2595C>A	c.(2593-2595)TTC>TTA	p.F865L	EGFLAM_uc003jlb.1_Missense_Mutation_p.F857L|EGFLAM_uc003jle.1_Missense_Mutation_p.F623L|EGFLAM_uc003jlf.1_Missense_Mutation_p.F223L|EGFLAM_uc003jlg.1_5'UTR	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	865	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|ovary(1)	4	all_lung(31;0.000385)					Colon(62;485 1295 3347 17454)								0.559701	229.426078	229.840404	75	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38451444	38451444	5155	5	C	A	A	A	376	29	EGFLAM	2	2
C9	735	broad.mit.edu	37	5	39316033	39316033	+	Silent	SNP	A	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39316033A>C	uc003jlv.3	-	c.714T>G	c.(712-714)GCT>GCG	p.A238A		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	238	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)											0.149254	14.602762	22.51545	10	57	KEEP	---	---	---	---	capture		Silent	SNP	39316033	39316033	2556	5	A	C	C	C	184	15	C9	4	4
CDC20B	166979	broad.mit.edu	37	5	54420757	54420757	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54420757C>G	uc003jpo.1	-	c.1089G>C	c.(1087-1089)TGG>TGC	p.W363C	CDC20B_uc003jpn.1_Missense_Mutation_p.W363C|CDC20B_uc010ivu.1_Missense_Mutation_p.W363C|CDC20B_uc010ivv.1_3'UTR	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	363	WD 4.										0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)											0.310924	114.233495	118.021088	37	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54420757	54420757	3188	5	C	G	G	G	234	18	CDC20B	3	3
SFRS12IP1	285672	broad.mit.edu	37	5	64020382	64020382	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64020382G>A	uc003jtk.2	-	c.297C>T	c.(295-297)TCC>TCT	p.S99S		NM_173829	NP_776190	Q8N9Q2	SR1IP_HUMAN	P18SRP protein	99	Lys-rich.				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding				0		Lung NSC(167;1.66e-05)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.119)										0.122807	8.507773	16.42661	7	50	KEEP	---	---	---	---	capture		Silent	SNP	64020382	64020382	14657	5	G	A	A	A	600	47	SFRS12IP1	2	2
CENPK	64105	broad.mit.edu	37	5	64824356	64824356	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64824356C>A	uc003jts.2	-	c.520G>T	c.(520-522)GAG>TAG	p.E174*	CENPK_uc003jtt.2_Nonsense_Mutation_p.E144*|CENPK_uc003jtu.2_Nonsense_Mutation_p.E174*	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	174					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)										0.206897	10.737354	13.047988	6	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	64824356	64824356	3368	5	C	A	A	A	390	30	CENPK	5	2
MAST4	375449	broad.mit.edu	37	5	66429410	66429410	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:66429410G>T	uc003jut.1	+	c.1595G>T	c.(1594-1596)AGC>ATC	p.S532I	MAST4_uc003juu.1_Missense_Mutation_p.S542I|MAST4_uc011cra.1_Missense_Mutation_p.S515I|MAST4_uc003juv.2_Missense_Mutation_p.S527I|MAST4_uc003juw.2_Missense_Mutation_p.S527I	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	724	Protein kinase.				protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)						805				0.282828	73.375326	77.559355	28	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66429410	66429410	9711	5	G	T	T	T	442	34	MAST4	2	2
MAP1B	4131	broad.mit.edu	37	5	71492142	71492142	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:71492142G>A	uc003kbw.3	+	c.2960G>A	c.(2959-2961)AGG>AAG	p.R987K	MAP1B_uc010iyw.1_Missense_Mutation_p.R1004K|MAP1B_uc010iyx.1_Missense_Mutation_p.R861K|MAP1B_uc010iyy.1_Missense_Mutation_p.R861K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	987						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		Melanoma(17;367 822 11631 31730 47712)								0.145833	36.674792	54.046404	21	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71492142	71492142	9611	5	G	A	A	A	455	35	MAP1B	2	2
F2RL2	2151	broad.mit.edu	37	5	75914185	75914185	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75914185A>C	uc003kem.2	-	c.347T>G	c.(346-348)CTG>CGG	p.L116R	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.L94R	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	116	Helical; Name=1; (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)										0.253333	49.494695	53.634101	19	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75914185	75914185	5539	5	A	C	C	C	91	7	F2RL2	4	4
THBS4	7060	broad.mit.edu	37	5	79366218	79366218	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79366218C>A	uc003kgh.2	+	c.1437C>A	c.(1435-1437)GCC>GCA	p.A479A		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	479	TSP type-3 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)										0.226415	29.179342	32.816701	12	41	KEEP	---	---	---	---	capture		Silent	SNP	79366218	79366218	16384	5	C	A	A	A	262	21	THBS4	2	2
EDIL3	10085	broad.mit.edu	37	5	83362384	83362384	+	Silent	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:83362384G>C	uc003kio.1	-	c.693C>G	c.(691-693)ACC>ACG	p.T231T	EDIL3_uc003kip.1_Silent_p.T221T|EDIL3_uc011ctt.1_Silent_p.T8T	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	231	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)										0.18	18.947672	23.764533	9	41	KEEP	---	---	---	---	capture		Silent	SNP	83362384	83362384	5102	5	G	C	C	C	548	43	EDIL3	3	3
EDIL3	10085	broad.mit.edu	37	5	83525686	83525686	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:83525686T>A	uc003kio.1	-	c.213A>T	c.(211-213)GAA>GAT	p.E71D	EDIL3_uc003kip.1_Intron	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	71					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)										0.285714	28.176387	29.911686	12	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83525686	83525686	5102	5	T	A	A	A	777	60	EDIL3	3	3
MCHR2	84539	broad.mit.edu	37	6	100368931	100368931	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100368931G>T	uc003pqh.1	-	c.908C>A	c.(907-909)CCT>CAT	p.P303H	MCHR2_uc003pqi.1_Missense_Mutation_p.P303H	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	303	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)										0.305556	87.724762	91.373116	33	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100368931	100368931	9772	6	G	T	T	T	455	35	MCHR2	2	2
SLC22A16	85413	broad.mit.edu	37	6	110777820	110777820	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110777820A>T	uc003puf.2	-	c.454T>A	c.(454-456)TGG>AGG	p.W152R	SLC22A16_uc003pue.2_Missense_Mutation_p.W133R|SLC22A16_uc003pug.2_Missense_Mutation_p.W152R	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	152	Helical; (Potential).				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane|plasma membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)										0.285714	56.785824	59.661266	20	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110777820	110777820	14943	6	A	T	T	T	104	8	SLC22A16	3	3
LAMA4	3910	broad.mit.edu	37	6	112512973	112512973	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:112512973G>T	uc003pvu.2	-	c.583C>A	c.(583-585)CCC>ACC	p.P195T	LAMA4_uc003pvv.2_Missense_Mutation_p.P195T|LAMA4_uc003pvt.2_Missense_Mutation_p.P195T	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	195	Laminin EGF-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)										0.243243	17.852484	20.080616	9	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112512973	112512973	8931	6	G	T	T	T	533	41	LAMA4	2	2
L3MBTL3	84456	broad.mit.edu	37	6	130460824	130460824	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130460824G>T	uc003qbt.2	+	c.2269G>T	c.(2269-2271)GGC>TGC	p.G757C	L3MBTL3_uc003qbu.2_Missense_Mutation_p.G732C	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	757	SAM.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)	5				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)										0.310345	24.562276	25.492634	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130460824	130460824	8916	6	G	T	T	T	559	43	L3MBTL3	2	2
TMEM200A	114801	broad.mit.edu	37	6	130761629	130761629	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130761629G>C	uc003qca.2	+	c.62G>C	c.(61-63)AGA>ACA	p.R21T	TMEM200A_uc010kfh.2_Missense_Mutation_p.R21T|TMEM200A_uc010kfi.2_Missense_Mutation_p.R21T|TMEM200A_uc003qcb.2_Missense_Mutation_p.R21T	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	21	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)						66				0.231214	106.846658	118.369805	40	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130761629	130761629	16658	6	G	C	C	C	429	33	TMEM200A	3	3
SHPRH	257218	broad.mit.edu	37	6	146264813	146264813	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146264813C>A	uc003qld.2	-	c.1704G>T	c.(1702-1704)AAG>AAT	p.K568N	SHPRH_uc003qle.2_Missense_Mutation_p.K568N|SHPRH_uc003qlf.2_Missense_Mutation_p.K568N|SHPRH_uc003qlg.1_Missense_Mutation_p.K124N|SHPRH_uc003qlj.1_Missense_Mutation_p.K457N	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	568					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)	2		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)										0.366667	30.916085	31.385377	11	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146264813	146264813	14786	6	C	A	A	A	259	20	SHPRH	2	2
UST	10090	broad.mit.edu	37	6	149208153	149208153	+	Silent	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:149208153A>T	uc003qmg.2	+	c.279A>T	c.(277-279)CCA>CCT	p.P93P		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	93	Lumenal (Potential).				carbohydrate biosynthetic process|protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)										0.287356	69.14346	72.669399	25	62	KEEP	---	---	---	---	capture		Silent	SNP	149208153	149208153	17657	6	A	T	T	T	67	6	UST	3	3
TCP10	6953	broad.mit.edu	37	6	167791570	167791570	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167791570G>T	uc003qvv.1	-	c.290C>A	c.(289-291)CCT>CAT	p.P97H	TCP10_uc003qvu.2_Missense_Mutation_p.P97H|TCP10_uc003qvw.2_Missense_Mutation_p.P73H	NM_004610	NP_004601	Q12799	TCP10_HUMAN	t-complex 10	124						cytosol				breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)										0.162791	13.699798	18.345442	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167791570	167791570	16236	6	G	T	T	T	455	35	TCP10	2	2
GMDS	2762	broad.mit.edu	37	6	1726733	1726733	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:1726733T>G	uc003mtq.2	-	c.904A>C	c.(904-906)AAT>CAT	p.N302H		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	302					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion	cytoplasm	coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)										0.05036	-12.582835	17.196769	7	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1726733	1726733	6755	6	T	G	G	G	806	62	GMDS	4	4
ZNF165	7718	broad.mit.edu	37	6	28053589	28053589	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28053589G>T	uc003nkg.2	+	c.331G>T	c.(331-333)GAA>TAA	p.E111*	ZNF165_uc003nkh.2_Nonsense_Mutation_p.E111*|ZNF165_uc003nki.3_Nonsense_Mutation_p.E111*	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	111	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.212121	14.405137	16.935321	7	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28053589	28053589	18331	6	G	T	T	T	585	45	ZNF165	5	2
OR14J1	442191	broad.mit.edu	37	6	29274621	29274621	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29274621G>A	uc011dln.1	+	c.155G>A	c.(154-156)CGT>CAT	p.R52H		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.208738	94.470377	110.61082	43	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29274621	29274621	11354	6	G	A	A	A	520	40	OR14J1	1	1
C6orf15	29113	broad.mit.edu	37	6	31080013	31080013	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31080013C>A	uc003nsk.1	-	c.123G>T	c.(121-123)GGG>GGT	p.G41G	PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	41											0														0.25	61.370987	67.721072	28	84	KEEP	---	---	---	---	capture		Silent	SNP	31080013	31080013	2440	6	C	A	A	A	379	30	C6orf15	2	2
TULP1	7287	broad.mit.edu	37	6	35477040	35477040	+	Silent	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35477040A>T	uc003okv.3	-	c.768T>A	c.(766-768)GCT>GCA	p.A256A	TULP1_uc003okw.3_Silent_p.A203A	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	256					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						GBM(55;1027 1091 11115 23439)								0.208889	108.138431	125.76783	47	178	KEEP	---	---	---	---	capture		Silent	SNP	35477040	35477040	17328	6	A	T	T	T	184	15	TULP1	3	3
DST	667	broad.mit.edu	37	6	56391248	56391248	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56391248C>A	uc003pdf.2	-	c.11683G>T	c.(11683-11685)GCT>TCT	p.A3895S	DST_uc003pcz.3_Missense_Mutation_p.A3717S|DST_uc011dxj.1_Missense_Mutation_p.A3746S|DST_uc011dxk.1_Missense_Mutation_p.A3757S|DST_uc003pcy.3_Missense_Mutation_p.A3391S	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5803					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.151079	33.776559	50.000202	21	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56391248	56391248	4967	6	C	A	A	A	364	28	DST	2	2
DST	667	broad.mit.edu	37	6	56417961	56417961	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56417961G>T	uc003pdf.2	-	c.9272C>A	c.(9271-9273)TCT>TAT	p.S3091Y	DST_uc003pcz.3_Missense_Mutation_p.S2913Y|DST_uc011dxj.1_Missense_Mutation_p.S2942Y|DST_uc011dxk.1_Missense_Mutation_p.S2953Y|DST_uc003pcy.3_Missense_Mutation_p.S2587Y	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4999					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.281481	96.379825	102.182479	38	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56417961	56417961	4967	6	G	T	T	T	429	33	DST	2	2
DST	667	broad.mit.edu	37	6	56418432	56418432	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56418432T>C	uc003pdf.2	-	c.8801A>G	c.(8800-8802)CAG>CGG	p.Q2934R	DST_uc003pcz.3_Missense_Mutation_p.Q2756R|DST_uc011dxj.1_Missense_Mutation_p.Q2785R|DST_uc011dxk.1_Missense_Mutation_p.Q2796R|DST_uc003pcy.3_Missense_Mutation_p.Q2430R	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4842					cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.225806	13.706628	15.84989	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56418432	56418432	4967	6	T	C	C	C	715	55	DST	4	4
COL19A1	1310	broad.mit.edu	37	6	70916851	70916851	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70916851C>A	uc003pfc.1	+	c.3302C>A	c.(3301-3303)GCT>GAT	p.A1101D		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	1101	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.214286	30.379477	35.673444	15	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70916851	70916851	3814	6	C	A	A	A	364	28	COL19A1	2	2
CAGE1	285782	broad.mit.edu	37	6	7374192	7374192	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7374192G>A	uc003mxi.2	-	c.452C>T	c.(451-453)CCT>CTT	p.P151L	CAGE1_uc003mxh.2_Non-coding_Transcript|CAGE1_uc003mxj.2_Missense_Mutation_p.P42L|CAGE1_uc003mxk.1_Missense_Mutation_p.P42L	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	287											0	Ovarian(93;0.0418)													0.166667	16.26754	21.326295	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7374192	7374192	2688	6	G	A	A	A	455	35	CAGE1	2	2
GPR22	2845	broad.mit.edu	37	7	107115572	107115572	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107115572C>A	uc003vef.2	+	c.1067C>A	c.(1066-1068)GCT>GAT	p.A356D	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	NM_005295	NP_005286	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	356	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1														0.24	28.473537	31.559932	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107115572	107115572	6957	7	C	A	A	A	364	28	GPR22	2	2
GPR22	2845	broad.mit.edu	37	7	107115574	107115574	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107115574T>A	uc003vef.2	+	c.1069T>A	c.(1069-1071)TAT>AAT	p.Y357N	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	NM_005295	NP_005286	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	357	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1														0.235294	28.975247	32.242803	12	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107115574	107115574	6957	7	T	A	A	A	793	61	GPR22	3	3
LAMB1	3912	broad.mit.edu	37	7	107601760	107601761	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107601760_107601761GG>TT	uc003vev.2	-	c.2071_2072CC>AA	c.(2071-2073)CCT>AAT	p.P691N	LAMB1_uc003vew.2_Missense_Mutation_p.P667N|LAMB1_uc003vex.2_Missense_Mutation_p.P667N	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	667	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)	4					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.236364	31.546009	35.041623	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	107601760	107601761	8933	7	GG	TT	TT	TT	455	35	LAMB1	2	2
LRRN3	54674	broad.mit.edu	37	7	110763521	110763521	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:110763521C>A	uc003vft.3	+	c.693C>A	c.(691-693)GCC>GCA	p.A231A	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.A231A|LRRN3_uc003vfs.3_Silent_p.A231A	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	231	Extracellular (Potential).|LRR 7.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)										0.20339	27.065954	31.885783	12	47	KEEP	---	---	---	---	capture		Silent	SNP	110763521	110763521	9412	7	C	A	A	A	301	24	LRRN3	2	2
GPR85	54329	broad.mit.edu	37	7	112724005	112724006	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112724005_112724006CC>AA	uc010ljv.2	-	c.771_772GG>TT	c.(769-774)CTGGGC>CTTTGC	p.G258C	GPR85_uc003vgp.1_Missense_Mutation_p.G258C|GPR85_uc003vgq.2_Missense_Mutation_p.G258C|GPR85_uc010ljw.1_Missense_Mutation_p.G258C	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	258	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.221154	54.473611	61.913921	23	81	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	112724005	112724006	6990	7	CC	AA	AA	AA	286	22	GPR85	2	2
CTTNBP2	83992	broad.mit.edu	37	7	117432054	117432054	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:117432054G>T	uc003vjf.2	-	c.1196C>A	c.(1195-1197)CCC>CAC	p.P399H		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	399	Pro-rich.									ovary(4)	4	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)										0.213793	63.382102	74.334706	31	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117432054	117432054	4204	7	G	T	T	T	559	43	CTTNBP2	2	2
C7orf58	79974	broad.mit.edu	37	7	120739999	120739999	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120739999G>T	uc003vjq.3	+	c.769G>T	c.(769-771)GCT>TCT	p.A257S	C7orf58_uc003vjr.1_Missense_Mutation_p.A257S|C7orf58_uc003vjs.3_Missense_Mutation_p.A257S|C7orf58_uc003vjt.3_Missense_Mutation_p.A37S|C7orf58_uc010lkk.1_Missense_Mutation_p.A37S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	257						endoplasmic reticulum				ovary(4)|large_intestine(2)|pancreas(1)	7	all_neural(327;0.117)													0.176471	17.054187	22.078728	9	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120739999	120739999	2512	7	G	T	T	T	598	46	C7orf58	2	2
GRM8	2918	broad.mit.edu	37	7	126544734	126544734	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126544734C>A	uc003vlr.2	-	c.731G>T	c.(730-732)GGT>GTT	p.G244V	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G244V|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	244	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.190476	17.375912	21.137336	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126544734	126544734	7082	7	C	A	A	A	234	18	GRM8	2	2
GRM8	2918	broad.mit.edu	37	7	126544739	126544739	+	Splice_Site_SNP	SNP	T	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126544739T>G	uc003vlr.2	-	c.728_splice	c.e3-1	p.G243_splice	GRM8_uc003vls.2_Splice_Site_SNP|GRM8_uc011kof.1_Splice_Site_SNP|GRM8_uc003vlt.2_Splice_Site_SNP_p.G243_splice|GRM8_uc010lkz.1_Splice_Site_SNP|GRM8_uc003vlu.1_Splice_Site_SNP	NM_000845	NP_000836			glutamate receptor, metabotropic 8 isoform a						negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.238095	26.029352	28.660647	10	32	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	126544739	126544739	7082	7	T	G	G	G	689	53	GRM8	5	4
FLNC	2318	broad.mit.edu	37	7	128490515	128490515	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128490515G>T	uc003vnz.3	+	c.5376G>T	c.(5374-5376)GCG>GCT	p.A1792A	FLNC_uc003voa.3_Silent_p.A1759A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1792	Filamin 16.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.117647	7.716425	15.042902	6	45	KEEP	---	---	---	---	capture		Silent	SNP	128490515	128490515	6177	7	G	T	T	T	496	39	FLNC	1	1
TRPV6	55503	broad.mit.edu	37	7	142572354	142572354	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142572354T>C	uc003wbx.1	-	c.1342A>G	c.(1342-1344)AGC>GGC	p.S448G	TRPV6_uc003wbw.1_Missense_Mutation_p.S234G|TRPV6_uc010lou.1_Missense_Mutation_p.S319G	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	448	Extracellular (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(1)	1	Melanoma(164;0.059)													0.147059	3.910715	8.08708	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142572354	142572354	17151	7	T	C	C	C	715	55	TRPV6	4	4
SSPO	23145	broad.mit.edu	37	7	149489266	149489266	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149489266C>G	uc010lpk.2	+	c.5511C>G	c.(5509-5511)TGC>TGG	p.C1837W		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1837	EGF-like 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.571429	13.800872	13.831965	4	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149489266	149489266	15705	7	C	G	G	G	337	26	SSPO	3	3
MLL3	58508	broad.mit.edu	37	7	151970872	151970872	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151970872A>T	uc003wla.2	-	c.930T>A	c.(928-930)TGT>TGA	p.C310*		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	310					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.055556	-14.412424	15.51638	8	136	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	151970872	151970872	10012	7	A	T	T	T	76	6	MLL3	5	3
PTPRN2	5799	broad.mit.edu	37	7	157931198	157931198	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157931198A>T	uc011kwa.1	-	c.989T>A	c.(988-990)ATT>AAT	p.I330N	PTPRN2_uc003wno.2_Missense_Mutation_p.I307N|PTPRN2_uc003wnp.2_Missense_Mutation_p.I290N|PTPRN2_uc003wnq.2_Missense_Mutation_p.I307N|PTPRN2_uc003wnr.2_Missense_Mutation_p.I269N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	307	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)										0.375	8.122245	8.232236	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157931198	157931198	13265	7	A	T	T	T	52	4	PTPRN2	3	3
DNAH11	8701	broad.mit.edu	37	7	21678642	21678642	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21678642G>T	uc003svc.2	+	c.4918G>T	c.(4918-4920)GAT>TAT	p.D1640Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1640	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.216216	53.038473	61.288106	24	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21678642	21678642	4781	7	G	T	T	T	585	45	DNAH11	2	2
DNAH11	8701	broad.mit.edu	37	7	21813389	21813389	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21813389G>T	uc003svc.2	+	c.9129G>T	c.(9127-9129)GTG>GTT	p.V3043V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3043	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.151515	9.251721	13.090901	5	28	KEEP	---	---	---	---	capture		Silent	SNP	21813389	21813389	4781	7	G	T	T	T	587	46	DNAH11	2	2
C7orf30	115416	broad.mit.edu	37	7	23340607	23340607	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23340607C>T	uc003swd.1	+	c.406C>T	c.(406-408)CAT>TAT	p.H136Y		NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	136						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)											0.171875	21.5865	28.097692	11	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23340607	23340607	2493	7	C	T	T	T	221	17	C7orf30	2	2
HOXA2	3199	broad.mit.edu	37	7	27140754	27140754	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27140754C>A	uc003syh.2	-	c.722G>T	c.(721-723)GGG>GTG	p.G241V		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	241						nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.277778	35.396413	37.799901	15	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27140754	27140754	7584	7	C	A	A	A	286	22	HOXA2	2	2
C7orf16	10842	broad.mit.edu	37	7	31735162	31735162	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31735162G>A	uc003tcl.2	+	c.162G>A	c.(160-162)CTG>CTA	p.L54L	C7orf16_uc011kaf.1_Intron	NM_006658	NP_006649	O96001	GSUB_HUMAN	G-substrate isoform 1	54					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction				ovary(2)|central_nervous_system(1)	3			GBM - Glioblastoma multiforme(11;0.216)											0.21978	134.737794	154.498827	60	213	KEEP	---	---	---	---	capture		Silent	SNP	31735162	31735162	2485	7	G	A	A	A	574	45	C7orf16	2	2
SDK1	221935	broad.mit.edu	37	7	4014040	4014040	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4014040G>T	uc003smx.2	+	c.1857G>T	c.(1855-1857)TCG>TCT	p.S619S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	619	Ig-like C2-type 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.151515	9.554685	13.391373	5	28	KEEP	---	---	---	---	capture		Silent	SNP	4014040	4014040	14454	7	G	T	T	T	470	37	SDK1	1	1
PSPH	5723	broad.mit.edu	37	7	56085062	56085062	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:56085062T>A	uc003trj.2	-	c.373A>T	c.(373-375)AGT>TGT	p.S125C	PSPH_uc003trg.2_Missense_Mutation_p.S96C|PSPH_uc003trh.2_Missense_Mutation_p.S96C|PSPH_uc003tri.2_Missense_Mutation_p.S96C	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	96					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)											0.176471	6.314608	7.991475	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56085062	56085062	13171	7	T	A	A	A	728	56	PSPH	3	3
ZNF479	90827	broad.mit.edu	37	7	57188854	57188854	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57188854G>T	uc010kzo.2	-	c.268C>A	c.(268-270)CGT>AGT	p.R90S		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.185185	21.016854	26.03612	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57188854	57188854	18527	7	G	T	T	T	494	38	ZNF479	1	1
AUTS2	26053	broad.mit.edu	37	7	70255417	70255418	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:70255417_70255418GG>TT	uc003tvw.3	+	c.3215_3216GG>TT	c.(3214-3216)CGG>CTT	p.R1072L	AUTS2_uc003tvx.3_Missense_Mutation_p.R1048L|AUTS2_uc011keg.1_Missense_Mutation_p.R524L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1072										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)										0.210526	10.190124	11.662443	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	70255417	70255418	1246	7	GG	TT	TT	TT	507	39	AUTS2	1	1
PCLO	27445	broad.mit.edu	37	7	82508748	82508748	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82508748C>A	uc003uhx.2	-	c.13559G>T	c.(13558-13560)GGT>GTT	p.G4520V	PCLO_uc003uhv.2_Missense_Mutation_p.G4520V|PCLO_uc003uht.1_5'UTR|PCLO_uc003uhu.1_5'UTR	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4440	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.222222	14.045532	15.955054	6	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82508748	82508748	12003	7	C	A	A	A	234	18	PCLO	2	2
ICA1	3382	broad.mit.edu	37	7	8268292	8268292	+	Silent	SNP	T	A	A	rs77256293	by1000genomes	TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:8268292T>A	uc010ktr.2	-	c.195A>T	c.(193-195)TCA>TCT	p.S65S	ICA1_uc003srl.2_Silent_p.S53S|ICA1_uc003srm.2_Silent_p.S65S|ICA1_uc003srn.3_5'UTR|ICA1_uc003srp.3_Silent_p.S64S|ICA1_uc010kts.2_Non-coding_Transcript|ICA1_uc003srq.2_Silent_p.S65S|ICA1_uc003srr.2_Silent_p.S64S|ICA1_uc003sro.3_Silent_p.S65S|ICA1_uc011jxg.1_Silent_p.S65S|ICA1_uc003srs.1_Silent_p.S65S	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	65	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)										0.166667	5.813221	7.709925	3	15	KEEP	---	---	---	---	capture		Silent	SNP	8268292	8268292	7777	7	T	A	A	A	808	63	ICA1	3	3
SEMA3A	10371	broad.mit.edu	37	7	83590815	83590815	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83590815G>T	uc003uhz.2	-	c.2188C>A	c.(2188-2190)CGA>AGA	p.R730R		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	730	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.182796	36.3273	45.108204	17	76	KEEP	---	---	---	---	capture		Silent	SNP	83590815	83590815	14510	7	G	T	T	T	506	39	SEMA3A	1	1
C7orf63	79846	broad.mit.edu	37	7	89887465	89887465	+	Silent	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:89887465T>C	uc010lep.2	+	c.234T>C	c.(232-234)TAT>TAC	p.Y78Y	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Silent_p.Y78Y|C7orf63_uc010leo.2_Silent_p.Y78Y	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	78							binding			ovary(1)	1														0.184211	14.49771	18.060258	7	31	KEEP	---	---	---	---	capture		Silent	SNP	89887465	89887465	2516	7	T	C	C	C	647	50	C7orf63	4	4
KRIT1	889	broad.mit.edu	37	7	91830661	91830661	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91830661C>G	uc003ulq.1	-	c.2102G>C	c.(2101-2103)AGC>ACC	p.S701T	KRIT1_uc010lev.1_Missense_Mutation_p.S458T|KRIT1_uc003ulr.1_Missense_Mutation_p.S701T|KRIT1_uc003uls.1_Missense_Mutation_p.S701T|KRIT1_uc003ult.1_Missense_Mutation_p.S653T|KRIT1_uc003ulu.1_Missense_Mutation_p.S701T|KRIT1_uc003ulv.1_Missense_Mutation_p.S701T	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	701	Required for RAP1A binding.|FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)											0.152941	22.303804	32.130286	13	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91830661	91830661	8760	7	C	G	G	G	364	28	KRIT1	3	3
SAMD9	54809	broad.mit.edu	37	7	92735075	92735075	+	Silent	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92735075T>C	uc003umf.2	-	c.336A>G	c.(334-336)CAA>CAG	p.Q112Q	SAMD9_uc003umg.2_Silent_p.Q112Q	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	112						cytoplasm				ovary(3)|breast(1)|central_nervous_system(1)	5	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)											0.209677	34.546421	39.37786	13	49	KEEP	---	---	---	---	capture		Silent	SNP	92735075	92735075	14306	7	T	C	C	C	829	64	SAMD9	4	4
HEPACAM2	253012	broad.mit.edu	37	7	92848713	92848713	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92848713A>G	uc011khy.1	-	c.200T>C	c.(199-201)GTC>GCC	p.V67A	HEPACAM2_uc003uml.2_Missense_Mutation_p.V32A|HEPACAM2_uc010lff.2_Missense_Mutation_p.V32A|HEPACAM2_uc003umm.2_Missense_Mutation_p.V44A	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 2	44	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.133333	20.676783	34.3879	14	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92848713	92848713	7336	7	A	G	G	G	130	10	HEPACAM2	4	4
TMEM130	222865	broad.mit.edu	37	7	98449144	98449144	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98449144G>T	uc003upo.2	-	c.906C>A	c.(904-906)ACC>ACA	p.T302T	TMEM130_uc011kiq.1_Silent_p.T283T|TMEM130_uc011kir.1_Silent_p.T302T|TMEM130_uc003upn.2_Silent_p.T200T	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	302	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)											0.145455	12.501816	19.123115	8	47	KEEP	---	---	---	---	capture		Silent	SNP	98449144	98449144	16574	7	G	T	T	T	548	43	TMEM130	2	2
GRHL2	79977	broad.mit.edu	37	8	102570665	102570665	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:102570665T>A	uc010mbu.2	+	c.303T>A	c.(301-303)AGT>AGA	p.S101R	GRHL2_uc011lhi.1_Missense_Mutation_p.S101R	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	101					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)											0.17931	55.368115	69.393019	26	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102570665	102570665	7042	8	T	A	A	A	764	59	GRHL2	3	3
RP1L1	94137	broad.mit.edu	37	8	10467120	10467120	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10467120G>T	uc003wtc.2	-	c.4488C>A	c.(4486-4488)ACC>ACA	p.T1496T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1496					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.205128	16.977352	20.124141	8	31	KEEP	---	---	---	---	capture		Silent	SNP	10467120	10467120	14012	8	G	T	T	T	548	43	RP1L1	2	2
RP1L1	94137	broad.mit.edu	37	8	10480614	10480614	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10480614G>T	uc003wtc.2	-	c.98C>A	c.(97-99)GCC>GAC	p.A33D		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	33					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.25	17.785859	19.603997	8	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10480614	10480614	14012	8	G	T	T	T	546	42	RP1L1	2	2
RIMS2	9699	broad.mit.edu	37	8	105001565	105001565	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105001565G>T	uc003yls.2	+	c.2294G>T	c.(2293-2295)CGC>CTC	p.R765L	RIMS2_uc003ylp.2_Missense_Mutation_p.R987L|RIMS2_uc003ylw.2_Missense_Mutation_p.R779L|RIMS2_uc003ylq.2_Missense_Mutation_p.R779L|RIMS2_uc003ylr.2_Missense_Mutation_p.R826L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1049					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.222222	39.876534	44.976431	16	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105001565	105001565	13845	8	G	T	T	T	494	38	RIMS2	1	1
CSMD3	114788	broad.mit.edu	37	8	113418831	113418831	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113418831G>T	uc003ynu.2	-	c.5731C>A	c.(5731-5733)CAT>AAT	p.H1911N	CSMD3_uc003yns.2_Missense_Mutation_p.H1113N|CSMD3_uc003ynt.2_Missense_Mutation_p.H1871N|CSMD3_uc011lhx.1_Missense_Mutation_p.H1807N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1911	Sushi 10.|Extracellular (Potential).					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										2888	TCGA Ovarian(7;0.080)			0.145161	14.836674	22.344578	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113418831	113418831	4087	8	G	T	T	T	611	47	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113529289	113529289	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113529289C>A	uc003ynu.2	-	c.4730G>T	c.(4729-4731)TGG>TTG	p.W1577L	CSMD3_uc003yns.2_Missense_Mutation_p.W849L|CSMD3_uc003ynt.2_Missense_Mutation_p.W1537L|CSMD3_uc011lhx.1_Missense_Mutation_p.W1473L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1577	Extracellular (Potential).|Sushi 8.					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										2888	TCGA Ovarian(7;0.080)			0.22619	38.221962	44.075211	19	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113529289	113529289	4087	8	C	A	A	A	273	21	CSMD3	2	2
ZFAT	57623	broad.mit.edu	37	8	135533236	135533236	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:135533236T>A	uc003yup.2	-	c.3124A>T	c.(3124-3126)AAG>TAG	p.K1042*	ZFAT_uc011ljj.1_Nonsense_Mutation_p.K161*|ZFAT_uc003yun.2_Nonsense_Mutation_p.K1030*|ZFAT_uc003yuo.2_Nonsense_Mutation_p.K1030*|ZFAT_uc010meh.2_Nonsense_Mutation_p.K1030*|ZFAT_uc010mei.2_Non-coding_Transcript|ZFAT_uc003yuq.2_Nonsense_Mutation_p.K1030*|ZFAT_uc010mej.2_Nonsense_Mutation_p.K980*	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	1042	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)											0.069231	-6.527917	18.397617	9	121	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	135533236	135533236	18220	8	T	A	A	A	806	62	ZFAT	5	3
FAM135B	51059	broad.mit.edu	37	8	139163755	139163755	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139163755G>T	uc003yuy.2	-	c.2963C>A	c.(2962-2964)ACT>AAT	p.T988N	FAM135B_uc003yux.2_Missense_Mutation_p.T889N|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Missense_Mutation_p.T550N|FAM135B_uc003yvb.2_Missense_Mutation_p.T550N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	988										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.352381	105.845487	107.862478	37	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139163755	139163755	5646	8	G	T	T	T	468	36	FAM135B	2	2
FAM135B	51059	broad.mit.edu	37	8	139164945	139164945	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139164945C>A	uc003yuy.2	-	c.1773G>T	c.(1771-1773)GGG>GGT	p.G591G	FAM135B_uc003yux.2_Silent_p.G492G|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Silent_p.G153G|FAM135B_uc003yvb.2_Silent_p.G153G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	591										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.27381	115.850253	123.549705	46	122	KEEP	---	---	---	---	capture		Silent	SNP	139164945	139164945	5646	8	C	A	A	A	327	26	FAM135B	2	2
SGCZ	137868	broad.mit.edu	37	8	13959885	13959885	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:13959885C>A	uc003wwq.2	-	c.744G>T	c.(742-744)GAG>GAT	p.E248D	SGCZ_uc010lss.2_Missense_Mutation_p.E201D	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	235	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)										0.202381	35.432417	42.345386	17	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13959885	13959885	14695	8	C	A	A	A	311	24	SGCZ	2	2
COL22A1	169044	broad.mit.edu	37	8	139712386	139712386	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139712386G>A	uc003yvd.2	-	c.2561C>T	c.(2560-2562)ACA>ATA	p.T854I	COL22A1_uc011ljo.1_Missense_Mutation_p.T154I	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	854	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.416667	41.57647	41.778734	15	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139712386	139712386	3819	8	G	A	A	A	624	48	COL22A1	2	2
MTUS1	57509	broad.mit.edu	37	8	17542025	17542025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17542025G>A	uc003wxv.2	-	c.2650C>T	c.(2650-2652)CGA>TGA	p.R884*	MTUS1_uc003wxt.2_Nonsense_Mutation_p.R131*|MTUS1_uc011kyg.1_Nonsense_Mutation_p.R29*|MTUS1_uc010lsy.2_Non-coding_Transcript|MTUS1_uc003wxw.2_Nonsense_Mutation_p.R830*|MTUS1_uc003wxs.2_Nonsense_Mutation_p.R50*	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	884						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)										0.350877	116.869629	119.104218	40	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	17542025	17542025	10358	8	G	A	A	A	480	37	MTUS1	5	1
NKX3-1	4824	broad.mit.edu	37	8	23538980	23538980	+	Silent	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:23538980T>C	uc011kzx.1	-	c.459A>G	c.(457-459)GAA>GAG	p.E153E	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	NK3 homeobox 1	153	Homeobox.				negative regulation of estrogen receptor binding|negative regulation of gene-specific transcription|positive regulation of cell division|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding|transcription repressor activity				0		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)										0.222222	54.058789	60.442352	20	70	KEEP	---	---	---	---	capture		Silent	SNP	23538980	23538980	10858	8	T	C	C	C	777	60	NKX3-1	4	4
TEX15	56154	broad.mit.edu	37	8	30704309	30704309	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30704309C>G	uc003xil.2	-	c.2225G>C	c.(2224-2226)AGT>ACT	p.S742T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	742										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.157895	13.124617	17.365622	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30704309	30704309	16306	8	C	G	G	G	260	20	TEX15	3	3
KCNU1	157855	broad.mit.edu	37	8	36691147	36691147	+	Silent	SNP	A	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36691147A>C	uc010lvw.2	+	c.1182A>C	c.(1180-1182)GCA>GCC	p.A394A	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	394	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.225352	44.669812	49.583691	16	55	KEEP	---	---	---	---	capture		Silent	SNP	36691147	36691147	8398	8	A	C	C	C	54	5	KCNU1	4	4
KCNU1	157855	broad.mit.edu	37	8	36780061	36780061	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36780061C>T	uc010lvw.2	+	c.2650C>T	c.(2650-2652)CTC>TTC	p.L884F	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	884	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.267857	42.403465	45.125766	15	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36780061	36780061	8398	8	C	T	T	T	312	24	KCNU1	2	2
ANK1	286	broad.mit.edu	37	8	41525923	41525923	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41525923C>A	uc003xom.2	-	c.5379G>T	c.(5377-5379)AAG>AAT	p.K1793N	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.K906N|ANK1_uc003xoi.2_Missense_Mutation_p.K1752N|ANK1_uc003xoj.2_Missense_Mutation_p.K1752N|ANK1_uc003xok.2_Missense_Mutation_p.K1752N|ANK1_uc003xol.2_Missense_Mutation_p.K1590N	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	1752	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.233645	58.519289	65.468843	25	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41525923	41525923	623	8	C	A	A	A	311	24	ANK1	2	2
PXDNL	137902	broad.mit.edu	37	8	52366079	52366079	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52366079C>A	uc003xqu.3	-	c.1249G>T	c.(1249-1251)GCT>TCT	p.A417S		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	417					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.142857	5.778724	9.224889	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52366079	52366079	13306	8	C	A	A	A	312	24	PXDNL	2	2
CHD7	55636	broad.mit.edu	37	8	61655383	61655383	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:61655383G>T	uc003xue.2	+	c.1392G>T	c.(1390-1392)ATG>ATT	p.M464I		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	464	Pro-rich.				central nervous system development|chromatin assembly or disassembly|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	chromatin|nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|lung(1)|breast(1)|pancreas(1)	8		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)											0.25	15.450651	16.806104	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61655383	61655383	3464	8	G	T	T	T	624	48	CHD7	2	2
KCNB2	9312	broad.mit.edu	37	8	73480016	73480016	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:73480016C>A	uc003xzb.2	+	c.47C>A	c.(46-48)TCG>TAG	p.S16*		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	16	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4	Breast(64;0.137)		Epithelial(68;0.105)											0.142857	44.59299	71.318142	31	186	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	73480016	73480016	8318	8	C	A	A	A	403	31	KCNB2	5	1
PI15	51050	broad.mit.edu	37	8	75737719	75737719	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:75737719G>T	uc003yal.2	+	c.235G>T	c.(235-237)GGC>TGC	p.G79C	PI15_uc003yam.2_Missense_Mutation_p.G79C	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	79						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)											0.21875	16.607004	18.940657	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75737719	75737719	12292	8	G	T	T	T	559	43	PI15	2	2
HNF4G	3174	broad.mit.edu	37	8	76472657	76472657	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:76472657T>C	uc003yar.2	+	c.1172T>C	c.(1171-1173)ATA>ACA	p.I391T	HNF4G_uc003yaq.2_Missense_Mutation_p.I354T	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	354					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)											0.12963	12.188481	19.397321	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76472657	76472657	7546	8	T	C	C	C	637	49	HNF4G	4	4
ZFHX4	79776	broad.mit.edu	37	8	77616393	77616393	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77616393A>G	uc003yav.2	+	c.70A>G	c.(70-72)ACG>GCG	p.T24A	ZFHX4_uc003yat.1_Missense_Mutation_p.T24A|ZFHX4_uc003yau.1_Missense_Mutation_p.T24A|ZFHX4_uc003yaw.1_Missense_Mutation_p.T24A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	24					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.06383	-1.707996	7.587815	3	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77616393	77616393	18223	8	A	G	G	G	26	2	ZFHX4	4	4
DCAF4L2	138009	broad.mit.edu	37	8	88886052	88886052	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88886052G>A	uc003ydz.2	-	c.148C>T	c.(148-150)CGT>TGT	p.R50C		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	50										ovary(1)	1														0.225806	32.924196	37.200863	14	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88886052	88886052	4443	8	G	A	A	A	494	38	DCAF4L2	1	1
MTERFD1	51001	broad.mit.edu	37	8	97270803	97270803	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97270803T>C	uc003yhs.1	-	c.116A>G	c.(115-117)CAT>CGT	p.H39R	MTERFD1_uc003yhr.1_5'Flank|MTERFD1_uc010mbd.1_Missense_Mutation_p.H39R	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	MTERF domain containing 1 precursor	39					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	promoter binding			ovary(1)	1	Breast(36;5.16e-05)													0.25	76.389411	83.210505	30	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97270803	97270803	10312	8	T	C	C	C	663	51	MTERFD1	4	4
PGCP	10404	broad.mit.edu	37	8	98078430	98078430	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:98078430G>T	uc003yhw.2	+	c.1247G>T	c.(1246-1248)GGA>GTA	p.G416V		NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	416					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity				0	Breast(36;1.86e-05)													0.234043	50.113806	56.190886	22	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98078430	98078430	12209	8	G	T	T	T	533	41	PGCP	2	2
KIAA1529	57653	broad.mit.edu	37	9	100136836	100136836	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100136836C>T	uc011lut.1	+	c.5161C>T	c.(5161-5163)CCC>TCC	p.P1721S	KIAA1529_uc004axe.1_Missense_Mutation_p.P1527S|KIAA1529_uc004axg.1_Missense_Mutation_p.P1582S|KIAA1529_uc004axh.1_Non-coding_Transcript|KIAA1529_uc011luw.1_Missense_Mutation_p.P675S	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)	6		Acute lymphoblastic leukemia(62;0.154)												0.172414	9.755992	12.697811	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100136836	100136836	8549	9	C	T	T	T	286	22	KIAA1529	2	2
COL15A1	1306	broad.mit.edu	37	9	101767203	101767203	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101767203A>T	uc004azb.1	+	c.1224A>T	c.(1222-1224)TTA>TTT	p.L408F		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	408	Nonhelical region 1 (NC1).|1.|4 X tandem repeats.				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.196629	69.700801	85.001291	35	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101767203	101767203	3810	9	A	T	T	T	193	15	COL15A1	3	3
COL15A1	1306	broad.mit.edu	37	9	101804358	101804358	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101804358T>A	uc004azb.1	+	c.2543T>A	c.(2542-2544)TTA>TAA	p.L848*		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	848	Triple-helical region 4 (COL4).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.270833	63.705682	68.254982	26	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101804358	101804358	3810	9	T	A	A	A	793	61	COL15A1	5	3
ZFP37	7539	broad.mit.edu	37	9	115806359	115806359	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:115806359C>A	uc011lwz.1	-	c.584G>T	c.(583-585)TGT>TTT	p.C195F	ZFP37_uc004bgm.1_Missense_Mutation_p.C180F|ZFP37_uc011lxa.1_Missense_Mutation_p.C181F	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	180					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.182927	32.414284	40.124719	15	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115806359	115806359	18236	9	C	A	A	A	221	17	ZFP37	2	2
ZNF618	114991	broad.mit.edu	37	9	116731397	116731397	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116731397G>T	uc004bid.2	+	c.34G>T	c.(34-36)GCT>TCT	p.A12S	ZNF618_uc004bib.1_Missense_Mutation_p.A12S|ZNF618_uc004bic.2_Missense_Mutation_p.A12S|ZNF618_uc011lxi.1_Missense_Mutation_p.A12S|ZNF618_uc011lxj.1_Missense_Mutation_p.A12S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.333333	39.914975	41.019522	15	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116731397	116731397	18637	9	G	T	T	T	546	42	ZNF618	2	2
ENG	2022	broad.mit.edu	37	9	130587196	130587196	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130587196G>T	uc004bsj.3	-	c.874C>A	c.(874-876)CTC>ATC	p.L292I	ENG_uc011mam.1_Missense_Mutation_p.L103I|ENG_uc004bsk.3_Missense_Mutation_p.L292I	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	endoglin isoform 1 precursor	292	Extracellular (Potential).				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction|transforming growth factor beta receptor complex	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0														0.151515	8.058283	11.892798	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130587196	130587196	5310	9	G	T	T	T	442	34	ENG	2	2
NUP214	8021	broad.mit.edu	37	9	134073366	134073366	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134073366G>T	uc004cag.2	+	c.4485G>T	c.(4483-4485)GAG>GAT	p.E1495D	NUP214_uc004cah.2_Missense_Mutation_p.E1485D|NUP214_uc004cai.2_Missense_Mutation_p.E925D|NUP214_uc010mzg.2_Non-coding_Transcript|NUP214_uc011mcg.1_Missense_Mutation_p.E321D|NUP214_uc011mcf.1_Missense_Mutation_p.E272D|NUP214_uc010mzh.1_Missense_Mutation_p.E9D|NUP214_uc010mzi.1_Missense_Mutation_p.E9D	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1495	Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		Pancreas(4;24 48 25510 30394 32571)				1058				0.2	38.994358	46.532727	18	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134073366	134073366	11167	9	G	T	T	T	451	35	NUP214	2	2
RXRA	6256	broad.mit.edu	37	9	137328357	137328357	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137328357G>T	uc004cfb.2	+	c.1286G>T	c.(1285-1287)GGG>GTG	p.G429V	RXRA_uc004cfc.1_Missense_Mutation_p.G332V	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	429	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of gene-specific transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)					303				0.147059	7.992508	12.02881	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137328357	137328357	14243	9	G	T	T	T	559	43	RXRA	2	2
COL5A1	1289	broad.mit.edu	37	9	137622275	137622275	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137622275G>T	uc004cfe.2	+	c.1118G>T	c.(1117-1119)GGG>GTG	p.G373V		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	373	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)										0.128205	6.247995	11.50228	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137622275	137622275	3834	9	G	T	T	T	559	43	COL5A1	2	2
ADAMTSL1	92949	broad.mit.edu	37	9	18622307	18622307	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18622307G>A	uc003zne.3	+	c.541G>A	c.(541-543)GAT>AAT	p.D181N	ADAMTSL1_uc003znb.2_Missense_Mutation_p.D181N|ADAMTSL1_uc003znc.3_Missense_Mutation_p.D181N	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	181						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|lung(1)	4				GBM - Glioblastoma multiforme(50;1.29e-17)										0.071429	-1.745401	8.853914	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18622307	18622307	275	9	G	A	A	A	429	33	ADAMTSL1	2	2
MLLT3	4300	broad.mit.edu	37	9	20413948	20413948	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:20413948T>C	uc003zoe.2	-	c.896A>G	c.(895-897)AAA>AGA	p.K299R	MLLT3_uc011lne.1_Missense_Mutation_p.K267R|MLLT3_uc011lnf.1_Missense_Mutation_p.K296R|MLLT3_uc003zof.2_Missense_Mutation_p.K100R	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	299	Nuclear localization signal (Potential).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)						216				0.277778	76.540833	80.536515	25	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20413948	20413948	10018	9	T	C	C	C	832	64	MLLT3	4	4
RFX3	5991	broad.mit.edu	37	9	3270426	3270426	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:3270426C>A	uc003zhr.2	-	c.1302G>T	c.(1300-1302)GGG>GGT	p.G434G	RFX3_uc010mhd.2_Silent_p.G434G|RFX3_uc003zhs.1_Silent_p.G434G	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	434					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin|transcription factor complex	promoter binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription activator activity|transcription repressor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)										0.267442	55.190143	59.388427	23	63	KEEP	---	---	---	---	capture		Silent	SNP	3270426	3270426	13736	9	C	A	A	A	379	30	RFX3	2	2
OR2S2	56656	broad.mit.edu	37	9	35957691	35957691	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35957691C>A	uc011lpi.1	-	c.405G>T	c.(403-405)GTG>GTT	p.V135V		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			Pancreas(172;293 2036 17878 24427 30946)								0.166667	21.621617	29.845181	13	65	KEEP	---	---	---	---	capture		Silent	SNP	35957691	35957691	11421	9	C	A	A	A	366	29	OR2S2	2	2
GLDC	2731	broad.mit.edu	37	9	6605162	6605162	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6605162G>T	uc003zkc.2	-	c.830C>A	c.(829-831)ACG>AAG	p.T277K		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	277					glycine catabolic process|oxidation-reduction process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.181818	51.883388	63.385333	22	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6605162	6605162	6701	9	G	T	T	T	520	40	GLDC	1	1
TRPM6	140803	broad.mit.edu	37	9	77353447	77353447	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77353447C>A	uc004ajl.1	-	c.5652G>T	c.(5650-5652)CGG>CGT	p.R1884R	TRPM6_uc004ajk.1_Silent_p.R1879R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.R835R|TRPM6_uc010mpd.1_Silent_p.R717R|TRPM6_uc010mpe.1_Silent_p.R431R|TRPM6_uc004ajj.1_Silent_p.R840R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1884	Alpha-type protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.153846	12.668878	18.626111	8	44	KEEP	---	---	---	---	capture		Silent	SNP	77353447	77353447	17141	9	C	A	A	A	379	30	TRPM6	2	2
PTPRD	5789	broad.mit.edu	37	9	8500934	8500934	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8500934T>G	uc003zkk.2	-	c.1948A>C	c.(1948-1950)ACT>CCT	p.T650P	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T650P|PTPRD_uc003zkm.2_Missense_Mutation_p.T637P|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	650	Fibronectin type-III 4.|Extracellular (Potential).				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)			0.196429	52.158975	61.831955	22	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8500934	8500934	13256	9	T	G	G	G	767	59	PTPRD	4	4
C9orf79	286234	broad.mit.edu	37	9	90502493	90502493	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90502493G>A	uc004app.3	+	c.3091G>A	c.(3091-3093)GAT>AAT	p.D1031N		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	1031						integral to membrane				ovary(3)	3														0.258621	35.988365	39.058457	15	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90502493	90502493	2613	9	G	A	A	A	429	33	C9orf79	2	2
IARS	3376	broad.mit.edu	37	9	95007245	95007245	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95007245G>A	uc004art.1	-	c.2900C>T	c.(2899-2901)GCT>GTT	p.A967V	IARS_uc004ars.1_Missense_Mutation_p.A812V|IARS_uc004aru.3_Missense_Mutation_p.A967V|IARS_uc010mqr.2_Missense_Mutation_p.A857V|IARS_uc010mqt.2_Missense_Mutation_p.A190V	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	967					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)	1					L-Isoleucine(DB00167)									0.15625	8.66822	12.268562	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95007245	95007245	7773	9	G	A	A	A	442	34	IARS	2	2
RNF128	79589	broad.mit.edu	37	X	106016175	106016175	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106016175A>C	uc004eml.2	+	c.517A>C	c.(517-519)AAT>CAT	p.N173H	RNF128_uc004emk.2_Missense_Mutation_p.N147H	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	173	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.275229	87.497513	92.460791	30	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106016175	106016175	13913	23	A	C	C	C	65	5	RNF128	4	4
COL4A6	1288	broad.mit.edu	37	X	107404923	107404923	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107404923C>A	uc004enw.3	-	c.4262G>T	c.(4261-4263)AGT>ATT	p.S1421I	COL4A6_uc004env.3_Missense_Mutation_p.S1420I|COL4A6_uc011msn.1_Missense_Mutation_p.S1396I|COL4A6_uc010npk.2_Missense_Mutation_p.S1363I|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_Intron	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1421	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.642857	29.878485	30.129983	9	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107404923	107404923	3833	23	C	A	A	A	260	20	COL4A6	2	2
COL4A5	1287	broad.mit.edu	37	X	107802318	107802318	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107802318G>T	uc004enz.1	+	c.166G>T	c.(166-168)GAA>TAA	p.E56*	COL4A5_uc011mso.1_Nonsense_Mutation_p.E56*	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	56	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.227273	21.724752	24.731332	10	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	107802318	107802318	3832	23	G	T	T	T	533	41	COL4A5	5	2
PAK3	5063	broad.mit.edu	37	X	110406155	110406155	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110406155G>T	uc010npv.1	+	c.589G>T	c.(589-591)GCA>TCA	p.A197S	PAK3_uc010npt.1_Missense_Mutation_p.A161S|PAK3_uc010npu.1_Missense_Mutation_p.A161S|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.A161S|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.A182S|PAK3_uc004epa.2_Missense_Mutation_p.A176S	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	p21-activated kinase 3 isoform b	176	Linker.				multicellular organismal development|protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(5)|ovary(3)|large_intestine(1)	9										137	TSP Lung(19;0.15)			0.248227	81.779961	89.897845	35	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110406155	110406155	11818	23	G	T	T	T	442	34	PAK3	2	2
PLS3	5358	broad.mit.edu	37	X	114879350	114879350	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:114879350G>T	uc004eqd.2	+	c.1193G>T	c.(1192-1194)CGT>CTT	p.R398L	PLS3_uc010nqg.2_Missense_Mutation_p.R180L|PLS3_uc011mtf.1_Missense_Mutation_p.R385L|PLS3_uc004eqe.2_Missense_Mutation_p.R398L|PLS3_uc011mtg.1_Missense_Mutation_p.R371L|PLS3_uc011mth.1_Missense_Mutation_p.R353L|PLS3_uc011mti.1_Missense_Mutation_p.R74L|PLS3_uc011mtj.1_5'UTR|PLS3_uc011mtk.1_Missense_Mutation_p.R59L|PLS3_uc011mtl.1_Non-coding_Transcript	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	398	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2						Colon(160;1047 1864 8490 12969 29601)								0.361702	53.56495	54.35495	17	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114879350	114879350	12534	23	G	T	T	T	520	40	PLS3	1	1
SEPT6	23157	broad.mit.edu	37	X	118774740	118774740	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118774740C>A	uc011mtw.1	-	c.792G>T	c.(790-792)CCG>CCT	p.P264P	SEPT6_uc010nqk.2_Non-coding_Transcript|SEPT6_uc004ers.2_Silent_p.P234P|SEPT6_uc004ert.2_Silent_p.P234P|SEPT6_uc004eru.2_Silent_p.P234P|SEPT6_uc004erv.2_Silent_p.P234P|SEPT6_uc004erw.2_Silent_p.P176P|SEPT6_uc011mtv.1_Silent_p.P176P	NM_145800	NP_665799	Q14141	SEPT6_HUMAN	septin 6 isoform A	234					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			kidney(1)	1										265				0.254545	36.835707	39.835072	14	41	KEEP	---	---	---	---	capture		Silent	SNP	118774740	118774740	14554	23	C	A	A	A	236	19	SEPT6	1	1
GPR112	139378	broad.mit.edu	37	X	135427080	135427080	+	Silent	SNP	A	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135427080A>C	uc004ezu.1	+	c.1215A>C	c.(1213-1215)TCA>TCC	p.S405S	GPR112_uc010nsb.1_Silent_p.S200S|GPR112_uc010nsc.1_Silent_p.S172S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	405	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				0.309456	334.053667	345.354281	108	241	KEEP	---	---	---	---	capture		Silent	SNP	135427080	135427080	6903	23	A	C	C	C	54	5	GPR112	4	4
ATP11C	286410	broad.mit.edu	37	X	138864752	138864752	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:138864752T>C	uc004faz.2	-	c.1915A>G	c.(1915-1917)ATT>GTT	p.I639V	ATP11C_uc004fay.2_Non-coding_Transcript|ATP11C_uc004fba.2_Missense_Mutation_p.I639V	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	639	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)													0.393939	41.769289	42.093726	13	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138864752	138864752	1140	23	T	C	C	C	637	49	ATP11C	4	4
MAGEC2	51438	broad.mit.edu	37	X	141291494	141291494	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:141291494C>G	uc004fbu.1	-	c.280G>C	c.(280-282)GGT>CGT	p.G94R		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	94	Ser-rich.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.231707	46.744507	52.110075	19	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141291494	141291494	9562	23	C	G	G	G	286	22	MAGEC2	3	3
SPANXN3	139067	broad.mit.edu	37	X	142596806	142596806	+	Silent	SNP	G	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142596806G>A	uc004fbw.2	-	c.264C>T	c.(262-264)GGC>GGT	p.G88G		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	88										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.247601	311.324766	341.461386	129	392	KEEP	---	---	---	---	capture		Silent	SNP	142596806	142596806	15500	23	G	A	A	A	483	38	SPANXN3	1	1
TKTL1	8277	broad.mit.edu	37	X	153539221	153539221	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153539221T>C	uc004fkg.2	+	c.385T>C	c.(385-387)TCC>CCC	p.S129P	TKTL1_uc011mzl.1_Missense_Mutation_p.S123P|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Missense_Mutation_p.S73P	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	129					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.224138	32.962527	37.006745	13	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153539221	153539221	16464	23	T	C	C	C	754	58	TKTL1	4	4
YY2	404281	broad.mit.edu	37	X	21874864	21874864	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21874864G>T	uc010nfq.2	+	c.916G>T	c.(916-918)GTG>TTG	p.V306L	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|MBTPS2_uc004dab.2_Intron|YY2_uc011mjp.1_Missense_Mutation_p.V88L	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	88	Mediates transcriptional activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2														0.447368	49.959656	50.052508	17	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21874864	21874864	18092	23	G	T	T	T	572	44	YY2	2	2
MAGEB10	139422	broad.mit.edu	37	X	27840394	27840394	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27840394C>A	uc004dbw.2	+	c.971C>A	c.(970-972)GCC>GAC	p.A324D		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	324										lung(1)|breast(1)|central_nervous_system(1)	3														0.428571	8.82566	8.85636	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27840394	27840394	9554	23	C	A	A	A	338	26	MAGEB10	2	2
NR0B1	190	broad.mit.edu	37	X	30326995	30326995	+	Silent	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30326995C>T	uc004dcf.3	-	c.486G>A	c.(484-486)GCG>GCA	p.A162A		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	162	4 X 67 AA tandem repeats.|3.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|basal transcription repressor activity|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)							OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.5	12.569126	12.569126	5	5	KEEP	---	---	---	---	capture		Silent	SNP	30326995	30326995	11018	23	C	T	T	T	340	27	NR0B1	1	1
DMD	1756	broad.mit.edu	37	X	32591900	32591900	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32591900C>T	uc004dda.1	-	c.1666G>A	c.(1666-1668)GAC>AAC	p.D556N	DMD_uc004dcz.2_Missense_Mutation_p.D433N|DMD_uc004dcy.1_Missense_Mutation_p.D552N|DMD_uc004ddb.1_Missense_Mutation_p.D548N|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.D548N|DMD_uc010ngp.1_Silent_p.K75K|DMD_uc010ngq.1_Non-coding_Transcript	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	556	Spectrin 2.				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)												0.545455	20.350823	20.370559	6	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32591900	32591900	4760	23	C	T	T	T	416	32	DMD	2	2
TMEM47	83604	broad.mit.edu	37	X	34657371	34657371	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34657371A>T	uc004ddh.2	-	c.360T>A	c.(358-360)TTT>TTA	p.F120L	TMEM47_uc010ngs.2_Non-coding_Transcript	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	120	Helical; (Potential).					integral to membrane				lung(1)	1														0.4	13.398491	13.485813	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34657371	34657371	16710	23	A	T	T	T	63	5	TMEM47	3	3
CXorf59	286464	broad.mit.edu	37	X	36103457	36103457	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:36103457C>G	uc004ddk.1	+	c.443C>G	c.(442-444)TCA>TGA	p.S148*		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	148						integral to membrane				central_nervous_system(1)	1														0.477273	69.771983	69.791758	21	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36103457	36103457	4279	23	C	G	G	G	377	29	CXorf59	5	3
RP2	6102	broad.mit.edu	37	X	46713306	46713306	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:46713306C>A	uc004dgw.3	+	c.498C>A	c.(496-498)ATC>ATA	p.I166I		NM_006915	NP_008846	O75695	XRP2_HUMAN	XRP2 protein	166	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|response to stimulus|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding				0														0.083333	-0.003871	6.349642	3	33	KEEP	---	---	---	---	capture		Silent	SNP	46713306	46713306	14013	23	C	A	A	A	408	32	RP2	2	2
PQBP1	10084	broad.mit.edu	37	X	48755810	48755810	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48755810G>T	uc004dle.2	+	c.18G>T	c.(16-18)GCG>GCT	p.A6A	PQBP1_uc004dlf.2_Silent_p.A6A|PQBP1_uc004dlg.2_Silent_p.A6A|PQBP1_uc004dld.2_Non-coding_Transcript|PQBP1_uc004dlh.2_Silent_p.A6A|PQBP1_uc004dli.2_Silent_p.A6A|PQBP1_uc004dlj.1_Silent_p.A6A|PQBP1_uc004dln.2_Silent_p.A6A|PQBP1_uc010nih.2_Non-coding_Transcript|PQBP1_uc010nii.2_5'UTR|PQBP1_uc004dlk.2_Silent_p.A6A|PQBP1_uc004dll.2_5'UTR|PQBP1_uc004dlm.2_5'UTR|PQBP1_uc010nij.2_Silent_p.A6A|TIMM17B_uc004dla.1_5'Flank|TIMM17B_uc004dlb.1_5'Flank|TIMM17B_uc004dlc.1_5'Flank	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1														0.428571	9.724593	9.755583	3	4	KEEP	---	---	---	---	capture		Silent	SNP	48755810	48755810	12853	23	G	T	T	T	483	38	PQBP1	1	1
HEPH	9843	broad.mit.edu	37	X	65427076	65427076	+	Silent	SNP	G	T	T			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65427076G>T	uc011moz.1	+	c.2340G>T	c.(2338-2340)CTG>CTT	p.L780L	HEPH_uc004dwn.2_Silent_p.L780L|HEPH_uc004dwo.2_Silent_p.L510L|HEPH_uc010nkr.2_Silent_p.L588L|HEPH_uc011mpa.1_Silent_p.L780L|HEPH_uc010nks.2_Silent_p.L69L	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	777	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.186047	17.574208	21.546356	8	35	KEEP	---	---	---	---	capture		Silent	SNP	65427076	65427076	7337	23	G	T	T	T	600	47	HEPH	2	2
ARR3	407	broad.mit.edu	37	X	69497335	69497335	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69497335C>A	uc004dyb.2	+	c.565C>A	c.(565-567)CTG>ATG	p.L189M	ARR3_uc004dya.2_Missense_Mutation_p.L189M	NM_004312	NP_004303	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	189					signal transduction|visual perception	cytoplasm|soluble fraction				large_intestine(2)|ovary(2)	4														0.722222	40.380236	41.179042	13	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69497335	69497335	997	23	C	A	A	A	415	32	ARR3	2	2
P2RY10	27334	broad.mit.edu	37	X	78216603	78216603	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78216603G>C	uc004ede.2	+	c.586G>C	c.(586-588)GTC>CTC	p.V196L	P2RY10_uc004edf.2_Missense_Mutation_p.V196L	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	196	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)	3														0.477876	185.55591	185.603057	54	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78216603	78216603	11760	23	G	C	C	C	572	44	P2RY10	3	3
PABPC5	140886	broad.mit.edu	37	X	90691132	90691132	+	Silent	SNP	C	A	A			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:90691132C>A	uc004efg.2	+	c.556C>A	c.(556-558)CGG>AGG	p.R186R	PABPC5_uc004eff.1_Silent_p.R22R	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	186						cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3														0.153846	6.99112	9.963482	4	22	KEEP	---	---	---	---	capture		Silent	SNP	90691132	90691132	11783	23	C	A	A	A	347	27	PABPC5	1	1
MICALCL	84953	broad.mit.edu	37	11	12316387	12316389	+	In_Frame_Del	DEL	CTA	-	-	rs3812754	byFrequency;by1000genomes	TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:12316387_12316389delCTA	uc001mkg.1	+	c.1409_1411delCTA	c.(1408-1413)CCTACA>CCA	p.T471del		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	471					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding				0				Epithelial(150;0.00177)										0.33			3	6		---	---	---	---	capture_indel		In_Frame_Del	DEL	12316387	12316389	9962	11	CTA	-	-	-	312	24	MICALCL	5	5
RABEP1	9135	broad.mit.edu	37	17	5250110	5250110	+	Frame_Shift_Del	DEL	A	-	-			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5250110_5250110delA	uc002gbm.3	+	c.674_674delA	c.(673-675)GAAfs	p.E225fs	RABEP1_uc010clc.1_Frame_Shift_Del_p.E225fs|RABEP1_uc010cld.1_Frame_Shift_Del_p.E182fs|RABEP1_uc010vsw.1_Frame_Shift_Del_p.E182fs|RABEP1_uc002gbl.3_Frame_Shift_Del_p.E225fs	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	225	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|cytoplasmic membrane-bounded vesicle|early endosome|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2										903				0.33			15	31		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	5250110	5250110	13420	17	A	-	-	-	117	9	RABEP1	5	5
MED15	51586	broad.mit.edu	37	22	20936975	20936976	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:20936975_20936976insC	uc002zsp.2	+	c.1350_1351insC	c.(1348-1353)CCTCCCfs	p.P450fs	MED15_uc002zsq.2_Frame_Shift_Ins_p.P410fs|MED15_uc010gso.2_Frame_Shift_Ins_p.P393fs|MED15_uc002zsr.2_Frame_Shift_Ins_p.P384fs|MED15_uc011ahs.1_Frame_Shift_Ins_p.P384fs|MED15_uc002zss.2_Frame_Shift_Ins_p.P329fs|MED15_uc011ahu.1_Frame_Shift_Ins_p.P160fs|MED15_uc002zst.2_Frame_Shift_Ins_p.P66fs|MED15_uc002zsu.2_Frame_Shift_Ins_p.P55fs	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	450_451	Pro-rich.|Poly-Pro.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding|RNA polymerase II transcription mediator activity				0	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)											0.50			3	3		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	20936975	20936976	9822	22	-	C	C	C	691	54	MED15	5	5
PCDHGB5	56101	broad.mit.edu	37	5	140779113	140779113	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140779113_140779113delG	uc003lkf.1	+	c.1419_1419delG	c.(1417-1419)TCGfs	p.S473fs	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_Frame_Shift_Del_p.S473fs	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	473	Extracellular (Potential).|Cadherin 5.				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)											0.33			14	29		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	140779113	140779113	11986	5	G	-	-	-	496	39	PCDHGB5	5	5
PBX2	5089	broad.mit.edu	37	6	32157642	32157643	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32157642_32157643insC	uc003oav.1	-	c.50_51insG	c.(49-51)GGCfs	p.G17fs	PBX2_uc003oaw.2_Frame_Shift_Ins_p.G17fs	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	17							transcription factor binding|transcription regulator activity			ovary(1)	1														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	32157642	32157643	11913	6	-	C	C	C	535	42	PBX2	5	5
USP9Y	8287	broad.mit.edu	37	Y	14959240	14959240	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z042-01	TCGA-17-Z042-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:14959240_14959240delG	uc004fst.1	+	c.7052_7052delG	c.(7051-7053)TGGfs	p.W2351fs	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	2351					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0														0.43			15	20		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	14959240	14959240	17655	24	G	-	-	-	611	47	USP9Y	5	5
