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
PAX2	5076	broad.mit.edu	37	10	102509514	102509514	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102509514G>A	uc001krk.3	+	c.55G>A	c.(55-57)GGT>AGT	p.G19S	PAX2_uc001krl.3_Missense_Mutation_p.G19S|PAX2_uc001krm.3_Missense_Mutation_p.G19S|PAX2_uc001kro.3_Missense_Mutation_p.G19S|PAX2_uc001krn.3_Missense_Mutation_p.G19S|PAX2_uc010qps.1_Missense_Mutation_p.G18S|PAX2_uc001krp.1_Missense_Mutation_p.G23S	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	19	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve formation|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter development|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|promoter binding|superoxide-generating NADPH oxidase activity|transcription activator activity|transcription repressor activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)										0.411765	21.121747	21.237388	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102509514	102509514	11899	10	G	A	A	A	559	43	PAX2	2	2
BTRC	8945	broad.mit.edu	37	10	103291028	103291028	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103291028G>T	uc001kta.2	+	c.778G>T	c.(778-780)GGG>TGG	p.G260W	BTRC_uc001ktb.2_Missense_Mutation_p.G224W|BTRC_uc001ktc.2_Missense_Mutation_p.G234W	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of gene-specific transcription|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex	specific transcriptional repressor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)						243				0.431193	161.311454	161.761016	47	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103291028	103291028	1603	10	G	T	T	T	507	39	BTRC	1	1
SORCS3	22986	broad.mit.edu	37	10	106960961	106960961	+	Silent	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106960961A>G	uc001kyi.1	+	c.2211A>G	c.(2209-2211)TCA>TCG	p.S737S	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	737	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.348739	247.949272	252.756621	83	155	KEEP	---	---	---	---	capture		Silent	SNP	106960961	106960961	15432	10	A	G	G	G	80	7	SORCS3	4	4
ATRNL1	26033	broad.mit.edu	37	10	116930936	116930936	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116930936G>A	uc001lcg.2	+	c.1234G>A	c.(1234-1236)GAG>AAG	p.E412K	ATRNL1_uc001lce.2_Non-coding_Transcript|ATRNL1_uc001lcf.2_Missense_Mutation_p.E412K|ATRNL1_uc009xyq.2_Nonsense_Mutation_p.W382*	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	412	Kelch 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)										0.408776	1135.177222	1141.478121	354	512	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116930936	116930936	1226	10	G	A	A	A	533	41	ATRNL1	2	2
VAX1	11023	broad.mit.edu	37	10	118896117	118896117	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118896117G>A	uc009xyx.2	-	c.295C>T	c.(295-297)CGG>TGG	p.R99W	VAX1_uc001ldb.1_Missense_Mutation_p.R99W	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	99						nucleus	sequence-specific DNA binding|transcription regulator activity			ovary(2)	2				all cancers(201;0.0108)										0.153846	10.42319	14.894636	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118896117	118896117	17699	10	G	A	A	A	506	39	VAX1	1	1
CPXM2	119587	broad.mit.edu	37	10	125528162	125528162	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:125528162C>A	uc001lhk.1	-	c.1179G>T	c.(1177-1179)GTG>GTT	p.V393V	CPXM2_uc001lhj.2_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	393					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)										0.382051	468.07906	472.838999	149	241	KEEP	---	---	---	---	capture		Silent	SNP	125528162	125528162	3977	10	C	A	A	A	314	25	CPXM2	2	2
STK32C	282974	broad.mit.edu	37	10	134040330	134040330	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:134040330C>A	uc010quu.1	-	c.652G>T	c.(652-654)GAC>TAC	p.D218Y	STK32C_uc001lld.1_Missense_Mutation_p.D88Y|STK32C_uc001lle.1_Missense_Mutation_p.D205Y|STK32C_uc009ybc.1_Missense_Mutation_p.D88Y|STK32C_uc009ybd.1_Missense_Mutation_p.D88Y|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	205	Protein kinase.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(1)	3		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)						638				0.222222	9.989723	11.267819	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134040330	134040330	15819	10	C	A	A	A	390	30	STK32C	2	2
ITGA8	8516	broad.mit.edu	37	10	15628598	15628598	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15628598T>A	uc001ioc.1	-	c.2357A>T	c.(2356-2358)CAG>CTG	p.Q786L	ITGA8_uc010qcb.1_Missense_Mutation_p.Q771L	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	786	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.150198	83.575042	113.251452	38	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15628598	15628598	8186	10	T	A	A	A	715	55	ITGA8	3	3
ARHGAP21	57584	broad.mit.edu	37	10	24889599	24889599	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:24889599C>A	uc001isb.2	-	c.3108G>T	c.(3106-3108)CAG>CAT	p.Q1036H	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.Q1036H|ARHGAP21_uc010qdc.1_Missense_Mutation_p.Q871H	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1035	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8														0.120192	36.317128	65.754557	25	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24889599	24889599	882	10	C	A	A	A	311	24	ARHGAP21	2	2
PPYR1	5540	broad.mit.edu	37	10	47087824	47087824	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:47087824G>A	uc001jee.2	+	c.1041G>A	c.(1039-1041)GAG>GAA	p.E347E	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.E347E	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	347	Cytoplasmic (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)	1														0.189655	53.468411	63.934347	22	94	KEEP	---	---	---	---	capture		Silent	SNP	47087824	47087824	12852	10	G	A	A	A	451	35	PPYR1	2	2
RBM17	84991	broad.mit.edu	37	10	6157491	6157491	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:6157491G>C	uc001ijb.2	+	c.1178G>C	c.(1177-1179)AGG>ACG	p.R393T	RBM17_uc010qav.1_Missense_Mutation_p.R393T|RBM17_uc001ijc.2_Non-coding_Transcript	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	393					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0														0.200758	132.115214	154.099262	53	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6157491	6157491	13580	10	G	C	C	C	455	35	RBM17	3	3
EGR2	1959	broad.mit.edu	37	10	64575716	64575716	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64575716A>G	uc010qio.1	-	c.113T>C	c.(112-114)ATC>ACC	p.I38T	EGR2_uc010qim.1_Missense_Mutation_p.I25T|EGR2_uc010qin.1_5'UTR|EGR2_uc001jmi.2_Missense_Mutation_p.I25T|EGR2_uc009xph.2_Missense_Mutation_p.I25T	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	early growth response 2 protein isoform b	25					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)													0.313725	151.825945	156.561568	48	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64575716	64575716	5161	10	A	G	G	G	156	12	EGR2	4	4
POLR3A	11128	broad.mit.edu	37	10	79784770	79784770	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79784770C>A	uc001jzn.2	-	c.449G>T	c.(448-450)TGC>TTC	p.C150F		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)											0.305419	181.766109	188.625948	62	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79784770	79784770	12656	10	C	A	A	A	325	25	POLR3A	2	2
GATA3	2625	broad.mit.edu	37	10	8105983	8105983	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:8105983C>A	uc001ijz.2	+	c.806C>A	c.(805-807)GCA>GAA	p.A269E	GATA3_uc001ika.2_Missense_Mutation_p.A268E	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 1	268	GATA-type 1.				blood coagulation|cell fate determination|defense response|mesonephros development|negative regulation of cell proliferation|nephric duct formation|norepinephrine biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of interleukin-4 production|regulation of cytokine biosynthetic process|response to estrogen stimulus|signal transduction|sympathetic nervous system development|transcription from RNA polymerase II promoter|ureteric bud formation	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(2)|central_nervous_system(2)	21														0.16129	20.607418	27.376657	10	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8105983	8105983	6519	10	C	A	A	A	325	25	GATA3	2	2
DYNC2H1	79659	broad.mit.edu	37	11	103128358	103128358	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103128358C>T	uc001phn.1	+	c.10504C>T	c.(10504-10506)CTG>TTG	p.L3502L	DYNC2H1_uc001pho.2_Silent_p.L3495L|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3495					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)										0.220859	96.412134	108.102958	36	127	KEEP	---	---	---	---	capture		Silent	SNP	103128358	103128358	5032	11	C	T	T	T	311	24	DYNC2H1	2	2
DDI1	414301	broad.mit.edu	37	11	103908255	103908255	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103908255C>A	uc001phr.2	+	c.705C>A	c.(703-705)CCC>CCA	p.P235P	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	235					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)										0.196262	54.214289	63.411497	21	86	KEEP	---	---	---	---	capture		Silent	SNP	103908255	103908255	4499	11	C	A	A	A	288	23	DDI1	1	1
NCAM1	4684	broad.mit.edu	37	11	113102898	113102898	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113102898C>A	uc009yyq.1	+	c.971C>A	c.(970-972)CCA>CAA	p.P324Q		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	416	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)						700				0.194805	37.880063	44.568215	15	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113102898	113102898	10601	11	C	A	A	A	273	21	NCAM1	2	2
RNF26	79102	broad.mit.edu	37	11	119207086	119207086	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119207086C>T	uc001pwh.2	+	c.1254C>T	c.(1252-1254)TGC>TGT	p.C418C		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	418	RING-type.						zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)										0.259259	17.110786	18.529385	7	20	KEEP	---	---	---	---	capture		Silent	SNP	119207086	119207086	13965	11	C	T	T	T	337	26	RNF26	2	2
TRIM29	23650	broad.mit.edu	37	11	119996441	119996441	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119996441C>A	uc001pwz.2	-	c.1291G>T	c.(1291-1293)GAC>TAC	p.D431Y	TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.D170Y|TRIM29_uc010rzj.1_Missense_Mutation_p.D164Y|TRIM29_uc001pxa.2_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	431					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)										0.342105	37.26181	38.099676	13	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119996441	119996441	17047	11	C	A	A	A	390	30	TRIM29	2	2
OR8D4	338662	broad.mit.edu	37	11	123777159	123777159	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123777159C>T	uc010saa.1	+	c.21C>T	c.(19-21)TCC>TCT	p.S7S		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)										0.257669	127.272633	135.947386	42	121	KEEP	---	---	---	---	capture		Silent	SNP	123777159	123777159	11644	11	C	T	T	T	262	21	OR8D4	2	2
OR4D5	219875	broad.mit.edu	37	11	123811224	123811224	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123811224C>T	uc001pzk.1	+	c.901C>T	c.(901-903)CTG>TTG	p.L301L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)										0.292829	427.732116	447.017565	147	355	KEEP	---	---	---	---	capture		Silent	SNP	123811224	123811224	11464	11	C	T	T	T	363	28	OR4D5	2	2
OR10S1	219873	broad.mit.edu	37	11	123848164	123848164	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123848164G>A	uc001pzm.1	-	c.235C>T	c.(235-237)CTC>TTC	p.L79F		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	79	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)										0.25448	210.79075	226.051236	71	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123848164	123848164	11324	11	G	A	A	A	455	35	OR10S1	2	2
OR10G8	219869	broad.mit.edu	37	11	123900722	123900722	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123900722C>A	uc001pzp.1	+	c.393C>A	c.(391-393)TAC>TAA	p.Y131*		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)										0.222892	492.323815	550.939425	185	645	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123900722	123900722	11309	11	C	A	A	A	220	17	OR10G8	5	2
PANX3	116337	broad.mit.edu	37	11	124489566	124489566	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124489566A>G	uc001qah.2	+	c.914A>G	c.(913-915)TAT>TGT	p.Y305C		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	305	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)										0.293103	114.308897	118.750764	34	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124489566	124489566	11839	11	A	G	G	G	208	16	PANX3	4	4
ROBO4	54538	broad.mit.edu	37	11	124754957	124754957	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124754957C>T	uc001qbg.2	-	c.2981G>A	c.(2980-2982)TGT>TAT	p.C994Y	ROBO4_uc010sas.1_Missense_Mutation_p.C849Y	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	994					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)										0.307692	77.462258	80.464366	28	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124754957	124754957	13995	11	C	T	T	T	221	17	ROBO4	2	2
PKNOX2	63876	broad.mit.edu	37	11	125301253	125301253	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125301253G>T	uc001qbu.2	+	c.1384G>T	c.(1384-1386)GAC>TAC	p.D462Y	PKNOX2_uc010saz.1_Missense_Mutation_p.D433Y|PKNOX2_uc010sba.1_Missense_Mutation_p.D433Y|PKNOX2_uc010sbb.1_Missense_Mutation_p.D398Y|PKNOX2_uc001qbv.2_Missense_Mutation_p.D227Y	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	462						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)										0.228571	63.945452	71.040534	24	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125301253	125301253	12408	11	G	T	T	T	481	37	PKNOX2	1	1
STT3A	3703	broad.mit.edu	37	11	125482978	125482978	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125482978C>G	uc001qcd.2	+	c.1460C>G	c.(1459-1461)TCC>TGC	p.S487C	STT3A_uc001qce.2_Missense_Mutation_p.S487C|STT3A_uc010sbg.1_Missense_Mutation_p.S395C|STT3A_uc009zbn.2_Missense_Mutation_p.S209C	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	487	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)										0.266094	394.789731	417.82068	124	342	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125482978	125482978	15853	11	C	G	G	G	390	30	STT3A	3	3
NELL1	4745	broad.mit.edu	37	11	20948973	20948973	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20948973G>C	uc009yid.2	+	c.963G>C	c.(961-963)AGG>AGC	p.R321S	NELL1_uc001mqe.2_Missense_Mutation_p.R293S|NELL1_uc001mqf.2_Missense_Mutation_p.R293S|NELL1_uc010rdo.1_Missense_Mutation_p.R236S|NELL1_uc010rdp.1_Missense_Mutation_p.R53S	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	293	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.314815	116.410746	119.705791	34	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20948973	20948973	10732	11	G	C	C	C	529	41	NELL1	3	3
ANO5	203859	broad.mit.edu	37	11	22248963	22248963	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22248963G>A	uc001mqi.2	+	c.479G>A	c.(478-480)CGC>CAC	p.R160H	ANO5_uc001mqj.2_Missense_Mutation_p.R159H	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	160	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4														0.381107	354.305111	358.110087	117	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22248963	22248963	708	11	G	A	A	A	494	38	ANO5	1	1
SLC5A12	159963	broad.mit.edu	37	11	26700315	26700315	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26700315C>A	uc001mra.2	-	c.1523G>T	c.(1522-1524)AGT>ATT	p.S508I	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	508	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)	1														0.38255	368.079818	371.685061	114	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26700315	26700315	15161	11	C	A	A	A	260	20	SLC5A12	2	2
BBOX1	8424	broad.mit.edu	37	11	27147256	27147256	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:27147256A>T	uc001mre.1	+	c.892A>T	c.(892-894)ACA>TCA	p.T298S	BBOX1_uc009yih.1_Missense_Mutation_p.T298S|BBOX1_uc001mrg.1_Missense_Mutation_p.T298S	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	298					carnitine biosynthetic process|oxidation-reduction process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)									0.296296	25.489578	26.491413	8	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27147256	27147256	1355	11	A	T	T	T	78	6	BBOX1	3	3
LMO2	4005	broad.mit.edu	37	11	33886333	33886333	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33886333G>A	uc010rem.1	-	c.279C>T	c.(277-279)CCC>CCT	p.P93P	LMO2_uc001mvc.2_Silent_p.P17P|LMO2_uc001mvd.2_Silent_p.P17P|LMO2_uc001mve.2_Silent_p.P24P|LMO2_uc010rel.1_Silent_p.P24P	NM_005574	NP_005565	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 1	24					multicellular organismal development	nucleus	protein binding|zinc ion binding				0										60				0.192308	12.659473	14.95828	5	21	KEEP	---	---	---	---	capture		Silent	SNP	33886333	33886333	9181	11	G	A	A	A	548	43	LMO2	2	2
TTC17	55761	broad.mit.edu	37	11	43411214	43411214	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:43411214G>T	uc001mxi.2	+	c.262G>T	c.(262-264)GCT>TCT	p.A88S	TTC17_uc001mxh.2_Missense_Mutation_p.A88S|TTC17_uc010rfj.1_Missense_Mutation_p.A31S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	88							binding			ovary(5)	5														0.342593	111.539497	113.904991	37	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43411214	43411214	17238	11	G	T	T	T	598	46	TTC17	2	2
OR51B2	79345	broad.mit.edu	37	11	5345155	5345155	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5345155G>T	uc001mao.1	-	c.373C>A	c.(373-375)CGC>AGC	p.R125S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.385246	307.595124	310.411352	94	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5345155	5345155	11499	11	G	T	T	T	507	39	OR51B2	1	1
OR4A15	81328	broad.mit.edu	37	11	55136164	55136164	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55136164G>T	uc010rif.1	+	c.805G>T	c.(805-807)GCA>TCA	p.A269S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	269	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.261261	409.113099	437.744673	145	410	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55136164	55136164	11446	11	G	T	T	T	598	46	OR4A15	2	2
OR4C6	219432	broad.mit.edu	37	11	55432926	55432926	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55432926G>C	uc001nht.3	+	c.284G>C	c.(283-285)TGC>TCC	p.C95S	OR4C6_uc010rik.1_Missense_Mutation_p.C95S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.291771	357.383359	372.976275	117	284	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55432926	55432926	11459	11	G	C	C	C	598	46	OR4C6	3	3
OR4C6	219432	broad.mit.edu	37	11	55433526	55433526	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55433526C>A	uc001nht.3	+	c.884C>A	c.(883-885)GCC>GAC	p.A295D	OR4C6_uc010rik.1_Missense_Mutation_p.A295D	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.293051	276.942641	289.633808	97	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55433526	55433526	11459	11	C	A	A	A	338	26	OR4C6	2	2
OR5D16	390144	broad.mit.edu	37	11	55607101	55607101	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55607101T>A	uc010rio.1	+	c.874T>A	c.(874-876)TAC>AAC	p.Y292N		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	292	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3		all_epithelial(135;0.208)												0.233051	145.004316	160.3993	55	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55607101	55607101	11566	11	T	A	A	A	689	53	OR5D16	3	3
OR10AG1	282770	broad.mit.edu	37	11	55735298	55735298	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55735298G>A	uc010rit.1	-	c.642C>T	c.(640-642)TCC>TCT	p.S214S		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	214	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.0137)													0.197802	46.294847	54.034166	18	73	KEEP	---	---	---	---	capture		Silent	SNP	55735298	55735298	11303	11	G	A	A	A	600	47	OR10AG1	2	2
OR8K5	219453	broad.mit.edu	37	11	55927268	55927268	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55927268G>T	uc010rja.1	-	c.526C>A	c.(526-528)CAT>AAT	p.H176N		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)												0.25	183.831423	199.518448	69	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55927268	55927268	11656	11	G	T	T	T	585	45	OR8K5	2	2
OR5T3	390154	broad.mit.edu	37	11	56020456	56020456	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56020456G>C	uc010rjd.1	+	c.781G>C	c.(781-783)GCT>CCT	p.A261P		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	261	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)													0.271739	562.237335	592.489823	175	469	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56020456	56020456	11593	11	G	C	C	C	598	46	OR5T3	3	3
OR5M1	390168	broad.mit.edu	37	11	56380871	56380871	+	Silent	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56380871T>A	uc001nja.1	-	c.108A>T	c.(106-108)CTA>CTT	p.L36L		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.263063	396.306	424.479159	146	409	KEEP	---	---	---	---	capture		Silent	SNP	56380871	56380871	11582	11	T	A	A	A	782	61	OR5M1	3	3
OR9G4	283189	broad.mit.edu	37	11	56511222	56511222	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56511222G>T	uc010rjo.1	-	c.66C>A	c.(64-66)ACC>ACA	p.T22T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.277056	365.396975	386.06475	128	334	KEEP	---	---	---	---	capture		Silent	SNP	56511222	56511222	11662	11	G	T	T	T	600	47	OR9G4	2	2
GLYATL2	219970	broad.mit.edu	37	11	58604550	58604550	+	Silent	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58604550T>C	uc001nnd.3	-	c.414A>G	c.(412-414)CCA>CCG	p.P138P	GLYATL2_uc009ymq.2_Silent_p.P138P	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	138						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)					196				0.275316	245.082254	259.450843	87	229	KEEP	---	---	---	---	capture		Silent	SNP	58604550	58604550	6749	11	T	C	C	C	808	63	GLYATL2	4	4
GLYATL2	219970	broad.mit.edu	37	11	58605833	58605833	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58605833G>T	uc001nnd.3	-	c.87C>A	c.(85-87)GGC>GGA	p.G29G	GLYATL2_uc009ymq.2_Silent_p.G29G	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	29						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)				p.G29G(SNUC2A-Tumor)	196				0.23301	64.545533	71.267568	24	79	KEEP	---	---	---	---	capture		Silent	SNP	58605833	58605833	6749	11	G	T	T	T	483	38	GLYATL2	1	1
PLAC1L	219990	broad.mit.edu	37	11	59807978	59807978	+	Missense_Mutation	SNP	G	T	T	rs79964989	by1000genomes	TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59807978G>T	uc001nol.2	+	c.46G>T	c.(46-48)GGT>TGT	p.G16C		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	placenta-specific 1-like precursor	16						extracellular region				ovary(2)	2														0.312253	242.628287	250.570063	79	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59807978	59807978	12439	11	G	T	T	T	507	39	PLAC1L	1	1
MS4A4A	51338	broad.mit.edu	37	11	60064675	60064675	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60064675G>T	uc001noz.2	+	c.207G>T	c.(205-207)GTG>GTT	p.V69V	MS4A4A_uc001npa.2_Silent_p.V50V|MS4A4A_uc001npb.2_Silent_p.V50V|MS4A4A_uc001npc.2_Silent_p.V50V	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member	69	Helical; (Potential).					integral to membrane	receptor activity				0														0.213793	239.82583	272.741224	93	342	KEEP	---	---	---	---	capture		Silent	SNP	60064675	60064675	10255	11	G	T	T	T	587	46	MS4A4A	2	2
INTS5	80789	broad.mit.edu	37	11	62415695	62415695	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62415695C>A	uc001nud.2	-	c.1857G>T	c.(1855-1857)GAG>GAT	p.E619D	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	619					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2														0.325	38.860471	39.947858	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62415695	62415695	8082	11	C	A	A	A	311	24	INTS5	2	2
SLC22A6	9356	broad.mit.edu	37	11	62751943	62751943	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62751943G>A	uc001nwk.2	-	c.220C>T	c.(220-222)CAG>TAG	p.Q74*	SLC22A6_uc001nwl.2_Nonsense_Mutation_p.Q74*|SLC22A6_uc001nwj.2_Nonsense_Mutation_p.Q74*|SLC22A6_uc001nwm.2_Nonsense_Mutation_p.Q74*	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	74	Extracellular (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0														0.421053	86.503761	86.911817	32	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	62751943	62751943	14955	11	G	A	A	A	598	46	SLC22A6	5	2
CDC42BPG	55561	broad.mit.edu	37	11	64606195	64606195	+	Silent	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64606195A>G	uc001obs.3	-	c.1056T>C	c.(1054-1056)TAT>TAC	p.Y352Y		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	352	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction|protein phosphorylation	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4										665				0.2	8.616765	9.871833	3	12	KEEP	---	---	---	---	capture		Silent	SNP	64606195	64606195	3202	11	A	G	G	G	206	16	CDC42BPG	4	4
ACTN3	89	broad.mit.edu	37	11	66322052	66322052	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66322052C>A	uc001oio.1	+	c.515C>A	c.(514-516)ACA>AAA	p.T172K	ACTN3_uc010rpi.1_Non-coding_Transcript	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	172	Actin-binding.|CH 2.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0														0.333333	36.887258	37.773252	12	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66322052	66322052	207	11	C	A	A	A	221	17	ACTN3	2	2
SYT12	91683	broad.mit.edu	37	11	66812117	66812117	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66812117C>A	uc009yrl.2	+	c.891C>A	c.(889-891)GCC>GCA	p.A297A	SYT12_uc001oju.2_Silent_p.A297A	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	297	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						Ovarian(65;2862 3307)								0.368421	43.741952	44.319492	14	24	KEEP	---	---	---	---	capture		Silent	SNP	66812117	66812117	15989	11	C	A	A	A	288	23	SYT12	1	1
KCTD14	65987	broad.mit.edu	37	11	77727720	77727720	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:77727720G>A	uc001oyw.3	-	c.687C>T	c.(685-687)TTC>TTT	p.F229F		NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	potassium channel tetramerisation domain	229						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)				54				0.205	106.957195	123.104987	41	159	KEEP	---	---	---	---	capture		Silent	SNP	77727720	77727720	8407	11	G	A	A	A	425	33	KCTD14	2	2
ODZ4	26011	broad.mit.edu	37	11	78369779	78369779	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78369779G>A	uc001ozl.3	-	c.7634C>T	c.(7633-7635)TCC>TTC	p.S2545F	ODZ4_uc001ozk.3_Missense_Mutation_p.S770F|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2545	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.28169	113.737693	119.819955	40	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78369779	78369779	11242	11	G	A	A	A	533	41	ODZ4	2	2
ODZ4	26011	broad.mit.edu	37	11	78380866	78380866	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78380866C>A	uc001ozl.3	-	c.6524G>T	c.(6523-6525)CGA>CTA	p.R2175L	ODZ4_uc001ozk.3_Missense_Mutation_p.R400L|ODZ4_uc009yvb.1_Missense_Mutation_p.R759L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2175	YD 17.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.40404	127.990625	128.784421	40	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78380866	78380866	11242	11	C	A	A	A	403	31	ODZ4	1	1
C11orf82	220042	broad.mit.edu	37	11	82645123	82645123	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82645123G>T	uc001ozt.2	+	c.2743G>T	c.(2743-2745)GGT>TGT	p.G915C	C11orf82_uc010rsr.1_Missense_Mutation_p.G614C|C11orf82_uc010rss.1_Missense_Mutation_p.G614C|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	915					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2														0.168831	26.823327	34.822038	13	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82645123	82645123	1704	11	G	T	T	T	455	35	C11orf82	2	2
FAT3	120114	broad.mit.edu	37	11	92620173	92620173	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92620173G>A	uc001pdj.3	+	c.12945G>A	c.(12943-12945)GGG>GGA	p.G4315G	FAT3_uc001pdi.3_Silent_p.G755G	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4315	Cytoplasmic (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)			0.192308	10.858661	13.158679	5	21	KEEP	---	---	---	---	capture		Silent	SNP	92620173	92620173	5927	11	G	A	A	A	548	43	FAT3	2	2
GPR83	10888	broad.mit.edu	37	11	94134234	94134234	+	Silent	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94134234G>C	uc001pet.2	-	c.180C>G	c.(178-180)CGC>CGG	p.R60R		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	60	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.24031	94.158901	102.098173	31	98	KEEP	---	---	---	---	capture		Silent	SNP	94134234	94134234	6988	11	G	C	C	C	431	34	GPR83	3	3
CNTN5	53942	broad.mit.edu	37	11	99941253	99941253	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:99941253G>T	uc001pga.2	+	c.1260G>T	c.(1258-1260)ACG>ACT	p.T420T	CNTN5_uc009ywv.1_Silent_p.T420T|CNTN5_uc001pfz.2_Silent_p.T420T|CNTN5_uc001pgb.2_Silent_p.T346T	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	420	Ig-like C2-type 4.				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				0.233333	79.94261	87.749461	28	92	KEEP	---	---	---	---	capture		Silent	SNP	99941253	99941253	3782	11	G	T	T	T	509	40	CNTN5	1	1
CNTN5	53942	broad.mit.edu	37	11	99945012	99945012	+	Silent	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:99945012T>C	uc001pga.2	+	c.1566T>C	c.(1564-1566)GTT>GTC	p.V522V	CNTN5_uc009ywv.1_Silent_p.V522V|CNTN5_uc001pfz.2_Silent_p.V522V|CNTN5_uc001pgb.2_Silent_p.V448V	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	522	Ig-like C2-type 5.				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				0.368421	24.620731	24.909637	7	12	KEEP	---	---	---	---	capture		Silent	SNP	99945012	99945012	3782	11	T	C	C	C	782	61	CNTN5	4	4
CKAP4	10970	broad.mit.edu	37	12	106633401	106633401	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106633401G>C	uc001tlk.2	-	c.1210C>G	c.(1210-1212)CAA>GAA	p.Q404E		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	404	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0														0.418182	80.116144	80.43748	23	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106633401	106633401	3580	12	G	C	C	C	598	46	CKAP4	3	3
BTBD11	121551	broad.mit.edu	37	12	108042981	108042981	+	Splice_Site_SNP	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108042981A>T	uc001tmk.1	+	c.2923_splice	c.e15-2	p.L975_splice	BTBD11_uc001tmj.2_Splice_Site_SNP_p.L975_splice|BTBD11_uc001tml.1_Splice_Site_SNP_p.L512_splice|BTBD11_uc001tmm.1_Splice_Site_SNP_p.L54_splice	NM_001018072	NP_001018082			BTB (POZ) domain containing 11 isoform a							integral to membrane	DNA binding			ovary(1)	1														0.438538	459.269827	460.259092	132	169	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	108042981	108042981	1571	12	A	T	T	T	91	7	BTBD11	5	3
TRPV4	59341	broad.mit.edu	37	12	110232179	110232179	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:110232179C>A	uc001tpj.1	-	c.1446G>T	c.(1444-1446)ATG>ATT	p.M482I	TRPV4_uc001tpg.1_Missense_Mutation_p.M448I|TRPV4_uc001tph.1_Missense_Mutation_p.M435I|TRPV4_uc001tpi.1_Missense_Mutation_p.M375I|TRPV4_uc001tpk.1_Missense_Mutation_p.M482I|TRPV4_uc001tpl.1_Missense_Mutation_p.M422I	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel,	482	Helical; (Potential).				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)	2														0.6	228.970114	229.93143	66	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110232179	110232179	17149	12	C	A	A	A	273	21	TRPV4	2	2
ALDH2	217	broad.mit.edu	37	12	112235926	112235926	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112235926G>T	uc001tst.2	+	c.1128G>T	c.(1126-1128)ACG>ACT	p.T376T	ALDH2_uc010syi.1_Silent_p.T329T|ALDH2_uc009zvy.2_Silent_p.T300T	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	376					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|electron carrier activity			ovary(1)|central_nervous_system(1)|skin(1)	3					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)									0.358974	45.840012	46.522678	14	25	KEEP	---	---	---	---	capture		Silent	SNP	112235926	112235926	499	12	G	T	T	T	496	39	ALDH2	1	1
DTX1	1840	broad.mit.edu	37	12	113515246	113515246	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113515246C>A	uc001tuk.1	+	c.277C>A	c.(277-279)CGG>AGG	p.R93R		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	93	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|transcription regulator activity|ubiquitin protein ligase binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2										106				0.534884	74.588181	74.642135	23	20	KEEP	---	---	---	---	capture		Silent	SNP	113515246	113515246	4978	12	C	A	A	A	347	27	DTX1	1	1
KDM2B	84678	broad.mit.edu	37	12	121882033	121882033	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121882033C>A	uc001uat.2	-	c.2233G>T	c.(2233-2235)GGC>TGC	p.G745C	KDM2B_uc001uaq.2_Missense_Mutation_p.G185C|KDM2B_uc010szy.1_Missense_Mutation_p.G185C|KDM2B_uc001uar.2_Missense_Mutation_p.G336C|KDM2B_uc001uas.2_Missense_Mutation_p.G714C|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_5'UTR|KDM2B_uc010szx.1_5'UTR|KDM2B_uc001uap.2_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	745					oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)	1												OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.482759	48.443375	48.451049	14	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121882033	121882033	8431	12	C	A	A	A	299	23	KDM2B	1	1
ABCB9	23457	broad.mit.edu	37	12	123434340	123434340	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123434340C>A	uc001udm.3	-	c.842G>T	c.(841-843)CGC>CTC	p.R281L	ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.R281L|ABCB9_uc010taj.1_Missense_Mutation_p.R281L|ABCB9_uc001udp.2_Missense_Mutation_p.R281L|ABCB9_uc001udq.2_Missense_Mutation_p.R63L|ABCB9_uc001udr.2_Missense_Mutation_p.R281L	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	281	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		Ovarian(49;786 1333 9175 38236)								0.45	56.043202	56.130513	18	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123434340	123434340	49	12	C	A	A	A	351	27	ABCB9	1	1
DNAH10	196385	broad.mit.edu	37	12	124364246	124364246	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124364246G>A	uc001uft.3	+	c.8178G>A	c.(8176-8178)AGG>AGA	p.R2726R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2726					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)										0.462317	1347.965036	1349.05955	411	478	KEEP	---	---	---	---	capture		Silent	SNP	124364246	124364246	4780	12	G	A	A	A	555	43	DNAH10	2	2
MANSC1	54682	broad.mit.edu	37	12	12491436	12491436	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:12491436G>A	uc001rai.1	-	c.282C>T	c.(280-282)AAC>AAT	p.N94N	MANSC1_uc010shm.1_Silent_p.N28N|MANSC1_uc001raj.1_Silent_p.N60N|MANSC1_uc009zht.1_Silent_p.N13N	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	MANSC domain containing 1 precursor	94	MANSC.|Extracellular (Potential).					integral to membrane					0		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)										0.322148	143.545265	147.731798	48	101	KEEP	---	---	---	---	capture		Silent	SNP	12491436	12491436	9607	12	G	A	A	A	464	36	MANSC1	2	2
TMEM132D	121256	broad.mit.edu	37	12	129563130	129563130	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129563130C>A	uc009zyl.1	-	c.2064G>T	c.(2062-2064)AGG>AGT	p.R688S	TMEM132D_uc001uia.2_Missense_Mutation_p.R226S	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	688	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.473469	375.081418	375.231721	116	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129563130	129563130	16579	12	C	A	A	A	285	22	TMEM132D	2	2
PIK3C2G	5288	broad.mit.edu	37	12	18499667	18499667	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18499667G>T	uc010sib.1	+	c.1522G>T	c.(1522-1524)GTA>TTA	p.V508L	PIK3C2G_uc001rdt.2_Missense_Mutation_p.V508L|PIK3C2G_uc010sia.1_Non-coding_Transcript|PIK3C2G_uc010sic.1_Missense_Mutation_p.V286L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	508					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.350195	284.3689	289.45924	90	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18499667	18499667	12335	12	G	T	T	T	624	48	PIK3C2G	2	2
CACNA2D4	93589	broad.mit.edu	37	12	1969334	1969334	+	Silent	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1969334C>G	uc001qjp.2	-	c.1917G>C	c.(1915-1917)ACG>ACC	p.T639T	CACNA2D4_uc009zds.1_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.T503T	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	639	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)								0.261905	32.906354	35.060098	11	31	KEEP	---	---	---	---	capture		Silent	SNP	1969334	1969334	2667	12	C	G	G	G	288	23	CACNA2D4	3	3
PDE3A	5139	broad.mit.edu	37	12	20801732	20801733	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20801732_20801733GG>TT	uc001reh.1	+	c.2676_2677GG>TT	c.(2674-2679)GTGGAA>GTTTAA	p.E893*		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	893	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)	3	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)									0.365517	167.834421	170.141694	53	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	20801732	20801733	12058	12	GG	TT	TT	TT	600	47	PDE3A	5	2
SLCO1B1	10599	broad.mit.edu	37	12	21355423	21355423	+	Splice_Site_SNP	SNP	A	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21355423A>C	uc001req.3	+	c.1136_splice	c.e10-2	p.G379_splice		NM_006446	NP_006437			solute carrier organic anion transporter family,						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)									0.382353	44.669756	45.081463	13	21	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	21355423	21355423	15220	12	A	C	C	C	195	15	SLCO1B1	5	4
CASC1	55259	broad.mit.edu	37	12	25261485	25261485	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25261485G>T	uc001rgk.2	-	c.2166C>A	c.(2164-2166)TCC>TCA	p.S722S	CASC1_uc001rgm.3_3'UTR|CASC1_uc001rgl.2_Silent_p.S716S|CASC1_uc001rgj.2_Silent_p.S676S|CASC1_uc010sje.1_Silent_p.S657S|CASC1_uc010sjf.1_3'UTR	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform a	716										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)											0.294118	75.439569	78.664905	25	60	KEEP	---	---	---	---	capture		Silent	SNP	25261485	25261485	2779	12	G	T	T	T	444	35	CASC1	2	2
CNTN1	1272	broad.mit.edu	37	12	41422935	41422935	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41422935C>G	uc001rmm.1	+	c.2894C>G	c.(2893-2895)CCA>CGA	p.P965R	CNTN1_uc001rmn.1_Missense_Mutation_p.P954R	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	965	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.440459	985.269798	987.431094	307	390	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41422935	41422935	3778	12	C	G	G	G	273	21	CNTN1	3	3
ADAMTS20	80070	broad.mit.edu	37	12	43925996	43925996	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43925996C>A	uc010skx.1	-	c.456G>T	c.(454-456)ACG>ACT	p.T152T		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	152				T -> V (in Ref. 2; CAD56159/CAD56160).		proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)					p.T152T(NB4-Tumor)	2149				0.414248	543.730158	546.158253	157	222	KEEP	---	---	---	---	capture		Silent	SNP	43925996	43925996	267	12	C	A	A	A	288	23	ADAMTS20	1	1
WNT1	7471	broad.mit.edu	37	12	49374219	49374219	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49374219C>A	uc001rsu.2	+	c.371C>A	c.(370-372)ACG>AAG	p.T124K		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	124					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of transcription regulator activity|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|promoter binding|transcription activator activity			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)						31				0.333333	21.518031	22.034628	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49374219	49374219	17955	12	C	A	A	A	247	19	WNT1	1	1
MLL2	8085	broad.mit.edu	37	12	49432243	49432243	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49432243G>A	uc001rta.3	-	c.8896C>T	c.(8896-8898)CGG>TGG	p.R2966W		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2966	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29														0.444444	53.597094	53.693645	16	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49432243	49432243	10011	12	G	A	A	A	506	39	MLL2	1	1
KCNH3	23416	broad.mit.edu	37	12	49949578	49949578	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49949578G>A	uc001ruh.1	+	c.2312G>A	c.(2311-2313)CGT>CAT	p.R771H	KCNH3_uc010smj.1_Missense_Mutation_p.R711H	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	771	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0														0.571429	27.402196	27.464542	8	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49949578	49949578	8338	12	G	A	A	A	520	40	KCNH3	1	1
FMNL3	91010	broad.mit.edu	37	12	50045837	50045837	+	Silent	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50045837C>G	uc001ruv.1	-	c.1482G>C	c.(1480-1482)CTG>CTC	p.L494L	FMNL3_uc001ruw.1_Silent_p.L443L|FMNL3_uc001rut.1_Silent_p.L60L|FMNL3_uc001ruu.1_Silent_p.L344L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	494					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4														0.541667	49.379007	49.415507	13	11	KEEP	---	---	---	---	capture		Silent	SNP	50045837	50045837	6195	12	C	G	G	G	366	29	FMNL3	3	3
ACCN2	41	broad.mit.edu	37	12	50472204	50472204	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50472204C>A	uc001rvv.2	+	c.838C>A	c.(838-840)CTC>ATC	p.L280I	ACCN2_uc001rvw.2_Missense_Mutation_p.L280I|ACCN2_uc009zln.2_Missense_Mutation_p.L71I|ACCN2_uc009zlo.2_Missense_Mutation_p.L280I	NM_020039	NP_064423	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	280	Extracellular (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)									0.418182	71.915549	72.236943	23	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50472204	50472204	130	12	C	A	A	A	364	28	ACCN2	2	2
SLC4A8	9498	broad.mit.edu	37	12	51879644	51879644	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51879644G>C	uc001rys.1	+	c.2246G>C	c.(2245-2247)GGA>GCA	p.G749A	SLC4A8_uc001rym.2_Missense_Mutation_p.G696A|SLC4A8_uc001ryn.2_Missense_Mutation_p.G696A|SLC4A8_uc001ryo.2_Missense_Mutation_p.G696A|SLC4A8_uc010snj.1_Missense_Mutation_p.G776A|SLC4A8_uc001ryr.2_Missense_Mutation_p.G749A	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	749	Helical; (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.15)										0.432886	477.242193	478.411084	129	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51879644	51879644	15156	12	G	C	C	C	533	41	SLC4A8	3	3
HOXC6	3223	broad.mit.edu	37	12	54423739	54423739	+	Missense_Mutation	SNP	A	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54423739A>C	uc001sev.2	+	c.701A>C	c.(700-702)AAA>ACA	p.K234T	HOXC6_uc001ses.2_Missense_Mutation_p.K152T|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	NM_004503	NP_004494	P09630	HXC6_HUMAN	homeobox C6 isoform 1	234	Glu/Lys-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(2)	2														0.4	7.249172	7.292863	2	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54423739	54423739	7607	12	A	C	C	C	13	1	HOXC6	4	4
SLC16A7	9194	broad.mit.edu	37	12	60098636	60098636	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:60098636G>C	uc001sqs.2	+	c.54G>C	c.(52-54)TGG>TGC	p.W18C	SLC16A7_uc001sqt.2_Missense_Mutation_p.W18C|SLC16A7_uc001squ.2_Missense_Mutation_p.W18C|SLC16A7_uc009zqi.2_5'UTR|SLC16A7_uc010ssi.1_5'UTR	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	18	Helical; (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)									0.397059	88.010555	88.641303	27	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60098636	60098636	14909	12	G	C	C	C	559	43	SLC16A7	3	3
ZFC3H1	196441	broad.mit.edu	37	12	72027129	72027129	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72027129T>C	uc001swo.2	-	c.2600A>G	c.(2599-2601)AAG>AGG	p.K867R		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	867	Potential.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.514286	67.751989	67.75821	18	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72027129	72027129	18221	12	T	C	C	C	728	56	ZFC3H1	4	4
CD163L1	283316	broad.mit.edu	37	12	7559189	7559189	+	Silent	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7559189T>C	uc010sge.1	-	c.1056A>G	c.(1054-1056)AGA>AGG	p.R352R	CD163L1_uc001qsy.2_Silent_p.R342R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	342	SRCR 3.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.267442	141.575496	149.973227	46	126	KEEP	---	---	---	---	capture		Silent	SNP	7559189	7559189	3095	12	T	C	C	C	751	58	CD163L1	4	4
CAPS2	84698	broad.mit.edu	37	12	75678809	75678809	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:75678809C>A	uc001sxl.3	-	c.1447G>T	c.(1447-1449)GAT>TAT	p.D483Y	CAPS2_uc001sxm.3_Missense_Mutation_p.D270Y|CAPS2_uc009zsa.2_Missense_Mutation_p.D92Y|CAPS2_uc001sxi.3_Missense_Mutation_p.D238Y|CAPS2_uc001sxj.3_Missense_Mutation_p.D413Y|CAPS2_uc001sxk.3_Missense_Mutation_p.D502Y	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	502	EF-hand 2.|2 (Potential).						calcium ion binding			ovary(2)	2														0.427907	286.462461	287.438064	92	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75678809	75678809	2757	12	C	A	A	A	377	29	CAPS2	2	2
SLC2A3	6515	broad.mit.edu	37	12	8075422	8075422	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8075422C>A	uc001qtr.2	-	c.1267G>T	c.(1267-1269)GCT>TCT	p.A423S		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	423	Extracellular (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		Colon(96;424 1461 14416 20933 23688)								0.367816	95.974933	97.311934	32	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8075422	8075422	15042	12	C	A	A	A	351	27	SLC2A3	1	1
PPFIA2	8499	broad.mit.edu	37	12	81676789	81676789	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81676789C>A	uc001szo.1	-	c.3018G>T	c.(3016-3018)CAG>CAT	p.Q1006H	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Non-coding_Transcript|PPFIA2_uc010suh.1_Non-coding_Transcript|PPFIA2_uc010sui.1_Non-coding_Transcript|PPFIA2_uc010suj.1_Non-coding_Transcript|PPFIA2_uc009zsi.1_Non-coding_Transcript|PPFIA2_uc010suf.1_Intron|PPFIA2_uc009zsh.2_Intron	NM_003625	NP_003616	O75334	LIPA2_HUMAN	PTPRF interacting protein alpha 2	1006					cell-matrix adhesion	cell surface|cytoplasm	protein binding			ovary(3)|lung(2)|pancreas(1)	6														0.493976	140.073853	140.076485	41	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81676789	81676789	12740	12	C	A	A	A	311	24	PPFIA2	2	2
C12orf12	196477	broad.mit.edu	37	12	91347339	91347339	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91347339G>A	uc001tbj.2	-	c.1181C>T	c.(1180-1182)CCA>CTA	p.P394L		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	394										central_nervous_system(1)|pancreas(1)	2														0.35	44.337742	45.131946	14	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91347339	91347339	1720	12	G	A	A	A	611	47	C12orf12	2	2
A2M	2	broad.mit.edu	37	12	9225296	9225296	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9225296C>A	uc001qvk.1	-	c.3928G>T	c.(3928-3930)GGG>TGG	p.G1310W	A2M_uc001qvj.1_Missense_Mutation_p.G352W|A2M_uc009zgk.1_Missense_Mutation_p.G1160W	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1310					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)									0.398964	248.040287	249.762245	77	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9225296	9225296	5	12	C	A	A	A	273	21	A2M	2	2
PZP	5858	broad.mit.edu	37	12	9302192	9302192	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9302192G>T	uc001qvl.2	-	c.4391C>A	c.(4390-4392)TCT>TAT	p.S1464Y	PZP_uc009zgl.2_Missense_Mutation_p.S1250Y	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.355263	242.300084	246.513436	81	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9302192	9302192	13327	12	G	T	T	T	429	33	PZP	2	2
FGF14	2259	broad.mit.edu	37	13	102378993	102378993	+	Silent	SNP	T	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:102378993T>G	uc001vpf.2	-	c.591A>C	c.(589-591)CCA>CCC	p.P197P	FGF14_uc001vpe.2_Silent_p.P192P	NM_175929	NP_787125	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1B	192					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			large_intestine(1)|ovary(1)	2	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.271845	80.461784	85.292694	28	75	KEEP	---	---	---	---	capture		Silent	SNP	102378993	102378993	6080	13	T	G	G	G	704	55	FGF14	4	4
COL4A1	1282	broad.mit.edu	37	13	110863998	110863998	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110863998A>T	uc001vqw.3	-	c.464T>A	c.(463-465)ATG>AAG	p.M155K	COL4A1_uc010agl.2_Missense_Mutation_p.M155K	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	155					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)											0.329114	84.424432	86.468883	26	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110863998	110863998	3827	13	A	T	T	T	104	8	COL4A1	3	3
FAM123A	219287	broad.mit.edu	37	13	25744474	25744474	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25744474C>A	uc001uqb.2	-	c.1284G>T	c.(1282-1284)CCG>CCT	p.P428P	FAM123A_uc001uqa.2_Silent_p.P309P|FAM123A_uc001uqc.2_Silent_p.P309P	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	428										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)										0.411765	22.722677	22.838078	7	10	KEEP	---	---	---	---	capture		Silent	SNP	25744474	25744474	5619	13	C	A	A	A	288	23	FAM123A	1	1
RCBTB2	1102	broad.mit.edu	37	13	49076887	49076887	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:49076887C>A	uc010tgg.1	-	c.1105G>T	c.(1105-1107)GCC>TCC	p.A369S	RCBTB2_uc001vch.2_Missense_Mutation_p.A364S|RCBTB2_uc001vci.2_Missense_Mutation_p.A340S|RCBTB2_uc010tgh.1_Missense_Mutation_p.A90S|RCBTB2_uc001vcj.2_Missense_Mutation_p.A316S|RCBTB2_uc010acv.1_Non-coding_Transcript|RCBTB2_uc010tgi.1_3'UTR	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	364	RCC1 6.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)	4		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)						264				0.464286	171.302691	171.425362	52	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49076887	49076887	13641	13	C	A	A	A	351	27	RCBTB2	1	1
VPS36	51028	broad.mit.edu	37	13	53024666	53024666	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53024666G>A	uc001vgs.2	-	c.64C>T	c.(64-66)CGC>TGC	p.R22C	VPS36_uc001vgq.2_5'Flank	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36	22	GLUE.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding				0		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)										0.846154	39.734037	41.223518	11	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53024666	53024666	17771	13	G	A	A	A	494	38	VPS36	1	1
HNRNPA1L2	144983	broad.mit.edu	37	13	53217055	53217055	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53217055G>T	uc001vgx.1	+	c.428G>T	c.(427-429)GGC>GTC	p.G143V	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.G143V|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.G143V	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like	143	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding				0														0.406015	170.429111	171.45461	54	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53217055	53217055	7550	13	G	T	T	T	546	42	HNRNPA1L2	2	2
PCDH20	64881	broad.mit.edu	37	13	61987564	61987564	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:61987564G>T	uc001vid.3	-	c.668C>A	c.(667-669)CCT>CAT	p.P223H	PCDH20_uc010thj.1_Missense_Mutation_p.P223H	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	196	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)										0.371859	225.894568	228.76684	74	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61987564	61987564	11935	13	G	T	T	T	455	35	PCDH20	2	2
SLITRK5	26050	broad.mit.edu	37	13	88329238	88329238	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:88329238G>T	uc001vln.2	+	c.1595G>T	c.(1594-1596)AGG>ATG	p.R532M	SLITRK5_uc010tic.1_Missense_Mutation_p.R291M	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	532	Extracellular (Potential).|LRR 12.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.392157	61.989492	62.50867	20	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88329238	88329238	15244	13	G	T	T	T	455	35	SLITRK5	2	2
DOCK9	23348	broad.mit.edu	37	13	99520213	99520213	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99520213T>C	uc001vnt.2	-	c.3146A>G	c.(3145-3147)TAC>TGC	p.Y1049C	DOCK9_uc001vnw.2_Missense_Mutation_p.Y1048C|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.Y1049C|DOCK9_uc010tis.1_Missense_Mutation_p.Y1048C|DOCK9_uc010tit.1_Missense_Mutation_p.Y1049C|DOCK9_uc010tiq.1_Missense_Mutation_p.Y13C|DOCK9_uc010afu.1_Missense_Mutation_p.Y895C	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1049					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.344828	212.254676	215.951367	60	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99520213	99520213	4878	13	T	C	C	C	741	57	DOCK9	4	4
HHIPL1	84439	broad.mit.edu	37	14	100118631	100118631	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100118631G>T	uc010avs.2	+	c.326G>T	c.(325-327)GGG>GTG	p.G109V	HHIPL1_uc001ygl.1_Missense_Mutation_p.G109V	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	109					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity				0		Melanoma(154;0.128)												0.285714	41.129665	43.148667	14	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100118631	100118631	7377	14	G	T	T	T	559	43	HHIPL1	2	2
AHNAK2	113146	broad.mit.edu	37	14	105412420	105412420	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105412420G>C	uc010axc.1	-	c.9368C>G	c.(9367-9369)GCA>GGA	p.A3123G	AHNAK2_uc001ypx.2_Missense_Mutation_p.A3023G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3123						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.057971	-4.359973	9.77897	4	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105412420	105412420	418	14	G	C	C	C	598	46	AHNAK2	3	3
OR4K14	122740	broad.mit.edu	37	14	20483031	20483031	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20483031T>C	uc010tky.1	-	c.322A>G	c.(322-324)ACT>GCT	p.T108A		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.33557	167.592453	171.162546	50	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20483031	20483031	11479	14	T	C	C	C	741	57	OR4K14	4	4
OR6S1	341799	broad.mit.edu	37	14	21108972	21108972	+	Silent	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21108972A>G	uc001vxv.1	-	c.879T>C	c.(877-879)TAT>TAC	p.Y293Y		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S,	293	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)										0.273463	500.86423	529.473966	169	449	KEEP	---	---	---	---	capture		Silent	SNP	21108972	21108972	11620	14	A	G	G	G	102	8	OR6S1	4	4
MYH6	4624	broad.mit.edu	37	14	23866764	23866764	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23866764C>A	uc001wjv.2	-	c.1950G>T	c.(1948-1950)TCG>TCT	p.S650S		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	650	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.340206	104.047758	106.235944	33	64	KEEP	---	---	---	---	capture		Silent	SNP	23866764	23866764	10433	14	C	A	A	A	288	23	MYH6	1	1
MYH7	4625	broad.mit.edu	37	14	23886822	23886823	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23886822_23886823CC>AA	uc001wjx.2	-	c.4242_4243GG>TT	c.(4240-4245)CTGGAG>CTTTAG	p.E1415*		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1415	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)										0.298969	85.63598	89.139842	29	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	23886822	23886823	10434	14	CC	AA	AA	AA	390	30	MYH7	5	2
TM9SF1	10548	broad.mit.edu	37	14	24662175	24662175	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24662175G>A	uc010tob.1	-	c.1351C>T	c.(1351-1353)CGG>TGG	p.R451W	IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.R129W|TM9SF1_uc001wna.1_Non-coding_Transcript|TM9SF1_uc001wnb.1_Missense_Mutation_p.R216W|TM9SF1_uc001wnc.2_Missense_Mutation_p.R216W|TM9SF1_uc001wnd.2_Missense_Mutation_p.R72W	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	216					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)										0.1	2.703582	7.497337	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24662175	24662175	16507	14	G	A	A	A	480	37	TM9SF1	1	1
ARHGAP5	394	broad.mit.edu	37	14	32560197	32560198	+	Missense_Mutation	DNP	CG	TC	TC			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:32560197_32560198CG>TC	uc001wrl.2	+	c.322_323CG>TC	c.(322-324)CGG>TCG	p.R108S	ARHGAP5_uc001wrm.2_Missense_Mutation_p.R108S|ARHGAP5_uc001wrn.2_Missense_Mutation_p.R108S|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	108					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(3)|central_nervous_system(1)	4	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		NSCLC(9;77 350 3443 29227 41353)								0.241026	126.528605	138.459371	47	148	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	32560197	32560198	900	14	CG	TC	TC	TC	399	31	ARHGAP5	1	1
AKAP6	9472	broad.mit.edu	37	14	33205041	33205041	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:33205041G>T	uc001wrq.2	+	c.3325G>T	c.(3325-3327)GAA>TAA	p.E1109*		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1109	Spectrin 2.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		Melanoma(49;821 1200 7288 13647 42351)				483				0.247525	199.673173	217.249701	75	228	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33205041	33205041	458	14	G	T	T	T	429	33	AKAP6	5	2
SEC23A	10484	broad.mit.edu	37	14	39556195	39556195	+	Silent	SNP	A	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39556195A>C	uc001wup.1	-	c.621T>G	c.(619-621)TCT>TCG	p.S207S	SEC23A_uc010tqa.1_Silent_p.S69S|SEC23A_uc010tqb.1_Silent_p.S178S|SEC23A_uc010tqc.1_Silent_p.S69S	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	207					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)	4	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)										0.276596	71.206703	75.431181	26	68	KEEP	---	---	---	---	capture		Silent	SNP	39556195	39556195	14477	14	A	C	C	C	184	15	SEC23A	4	4
GPR135	64582	broad.mit.edu	37	14	59930621	59930621	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59930621T>A	uc010apj.2	-	c.1324A>T	c.(1324-1326)AAC>TAC	p.N442Y	GPR135_uc001xed.2_Non-coding_Transcript	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	442	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)										0.285714	6.247539	6.535688	2	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59930621	59930621	6918	14	T	A	A	A	819	63	GPR135	3	3
JKAMP	51528	broad.mit.edu	37	14	59970757	59970757	+	Silent	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59970757A>T	uc001xei.3	+	c.945A>T	c.(943-945)TCA>TCT	p.S315S	JKAMP_uc001xef.3_Silent_p.S301S|JKAMP_uc001xeh.3_Silent_p.S295S|JKAMP_uc001xeg.3_Silent_p.S309S|JKAMP_uc010try.1_Silent_p.S238S|JKAMP_uc001xej.3_Silent_p.S238S	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	316	Cytoplasmic (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1														0.267442	130.270535	138.671992	46	126	KEEP	---	---	---	---	capture		Silent	SNP	59970757	59970757	8253	14	A	T	T	T	54	5	JKAMP	3	3
SYNE2	23224	broad.mit.edu	37	14	64483301	64483301	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64483301G>T	uc001xgl.2	+	c.4839G>T	c.(4837-4839)GAG>GAT	p.E1613D	SYNE2_uc001xgm.2_Missense_Mutation_p.E1613D	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1613	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.315789	17.742785	18.316439	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64483301	64483301	15967	14	G	T	T	T	438	34	SYNE2	2	2
SPTB	6710	broad.mit.edu	37	14	65253520	65253520	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65253520C>A	uc001xhr.2	-	c.3163G>T	c.(3163-3165)GAC>TAC	p.D1055Y	SPTB_uc001xhs.2_Missense_Mutation_p.D1055Y|SPTB_uc001xht.2_Missense_Mutation_p.D1055Y|SPTB_uc001xhu.2_Missense_Mutation_p.D1055Y	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	1055	Spectrin 8.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)										0.184211	14.400215	17.957161	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65253520	65253520	15632	14	C	A	A	A	390	30	SPTB	2	2
SLC8A3	6547	broad.mit.edu	37	14	70515594	70515594	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70515594C>G	uc001xly.2	-	c.2297G>C	c.(2296-2298)GGC>GCC	p.G766A	SLC8A3_uc001xlu.2_Missense_Mutation_p.G123A|SLC8A3_uc001xlv.2_Missense_Mutation_p.G137A|SLC8A3_uc001xlw.2_Missense_Mutation_p.G763A|SLC8A3_uc001xlx.2_Missense_Mutation_p.G764A|SLC8A3_uc001xlz.2_Missense_Mutation_p.G760A|SLC8A3_uc010ara.2_Non-coding_Transcript|SLC8A3_uc001xma.2_Missense_Mutation_p.G123A	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	766	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			ovary(2)|breast(2)	4				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)										0.315068	75.299046	77.519752	23	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70515594	70515594	15205	14	C	G	G	G	338	26	SLC8A3	3	3
LTBP2	4053	broad.mit.edu	37	14	74969481	74969481	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74969481G>T	uc001xqa.2	-	c.5045C>A	c.(5044-5046)CCC>CAC	p.P1682H		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1682					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)										0.328358	64.427601	66.177539	22	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74969481	74969481	9450	14	G	T	T	T	559	43	LTBP2	2	2
KCNK10	54207	broad.mit.edu	37	14	88658607	88658607	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88658607C>A	uc001xwm.2	-	c.829G>T	c.(829-831)GTC>TTC	p.V277F	KCNK10_uc001xwn.2_Missense_Mutation_p.V277F|KCNK10_uc001xwo.2_Missense_Mutation_p.V272F	NM_138318	NP_612191	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	272					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|pancreas(1)	3														0.233333	57.428618	63.286393	21	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88658607	88658607	8364	14	C	A	A	A	234	18	KCNK10	2	2
SERPINA4	5267	broad.mit.edu	37	14	95030031	95030031	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95030031C>A	uc010avd.2	+	c.323C>A	c.(322-324)CCG>CAG	p.P108Q	SERPINA4_uc001ydk.2_Missense_Mutation_p.P71Q|SERPINA4_uc001ydl.2_Missense_Mutation_p.P71Q	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	71					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)	3				COAD - Colon adenocarcinoma(157;0.211)										0.364444	267.496465	271.130647	82	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95030031	95030031	14579	14	C	A	A	A	299	23	SERPINA4	1	1
ADAMTS17	170691	broad.mit.edu	37	15	100672318	100672318	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:100672318G>T	uc002bvv.1	-	c.1615C>A	c.(1615-1617)CCG>ACG	p.P539T	ADAMTS17_uc002bvx.1_Missense_Mutation_p.P296T	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	539	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)								OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.4	33.045074	33.263755	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100672318	100672318	263	15	G	T	T	T	559	43	ADAMTS17	2	2
C15orf2	23742	broad.mit.edu	37	15	24922547	24922547	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24922547C>A	uc001ywo.2	+	c.1533C>A	c.(1531-1533)GTC>GTA	p.V511V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	511	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.41704	291.232733	292.573619	93	130	KEEP	---	---	---	---	capture		Silent	SNP	24922547	24922547	1834	15	C	A	A	A	366	29	C15orf2	2	2
RYR3	6263	broad.mit.edu	37	15	33872331	33872331	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33872331C>G	uc001zhi.2	+	c.1423C>G	c.(1423-1425)CTT>GTT	p.L475V	RYR3_uc010bar.2_Missense_Mutation_p.L475V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	475	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)										0.395349	57.96617	58.37831	17	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33872331	33872331	14250	15	C	G	G	G	416	32	RYR3	3	3
SEMA6D	80031	broad.mit.edu	37	15	48057248	48057248	+	Missense_Mutation	SNP	T	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48057248T>G	uc010bek.2	+	c.1422T>G	c.(1420-1422)CAT>CAG	p.H474Q	SEMA6D_uc001zvw.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zvx.1_Missense_Mutation_p.H474Q|SEMA6D_uc001zvy.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zvz.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zwa.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zwb.2_Missense_Mutation_p.H474Q|SEMA6D_uc001zwc.2_Missense_Mutation_p.H474Q	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	474	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			breast(1)	1		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)										0.363095	213.232567	216.002151	61	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48057248	48057248	14528	15	T	G	G	G	660	51	SEMA6D	4	4
UNC13C	440279	broad.mit.edu	37	15	54586108	54586108	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54586108C>A	uc002ack.2	+	c.3834C>A	c.(3832-3834)TCC>TCA	p.S1278S	UNC13C_uc002acl.2_Silent_p.S108S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1278	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)						2691				0.364583	114.399764	115.948225	35	61	KEEP	---	---	---	---	capture		Silent	SNP	54586108	54586108	17544	15	C	A	A	A	262	21	UNC13C	2	2
VPS13C	54832	broad.mit.edu	37	15	62304305	62304305	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:62304305C>A	uc002agz.2	-	c.883_splice	c.e12+1	p.I295_splice	VPS13C_uc002aha.2_Splice_Site_SNP_p.I252_splice|VPS13C_uc002ahb.1_Splice_Site_SNP_p.I295_splice|VPS13C_uc002ahc.1_Splice_Site_SNP_p.I252_splice	NM_020821	NP_065872			vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2														0.348837	47.710131	48.578086	15	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	62304305	62304305	17758	15	C	A	A	A	260	20	VPS13C	5	2
HERC1	8925	broad.mit.edu	37	15	63987027	63987027	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63987027G>C	uc002amp.2	-	c.5188C>G	c.(5188-5190)CAA>GAA	p.Q1730E		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1730					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(5)|central_nervous_system(2)|lung(1)|breast(1)	9														0.443299	316.730349	317.273353	86	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63987027	63987027	7340	15	G	C	C	C	585	45	HERC1	3	3
MAP2K1	5604	broad.mit.edu	37	15	66729153	66729153	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:66729153T>A	uc010bhq.2	+	c.361T>A	c.(361-363)TGC>AGC	p.C121S	MAP2K1_uc010ujp.1_Missense_Mutation_p.C99S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	121	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0										667				0.3125	178.832345	184.840002	60	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66729153	66729153	9619	15	T	A	A	A	767	59	MAP2K1	3	3
LINGO1	84894	broad.mit.edu	37	15	77907260	77907260	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:77907260G>T	uc002bct.1	-	c.989C>A	c.(988-990)GCC>GAC	p.A330D	LINGO1_uc002bcu.1_Missense_Mutation_p.A324D	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	330	Extracellular (Potential).|LRR 10.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2														0.388889	21.420686	21.615482	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77907260	77907260	9141	15	G	T	T	T	546	42	LINGO1	2	2
IL16	3603	broad.mit.edu	37	15	81585042	81585042	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81585042G>T	uc010unp.1	+	c.1692G>T	c.(1690-1692)GGG>GGT	p.G564G	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Silent_p.G522G|IL16_uc002bge.3_Non-coding_Transcript|IL16_uc002bgh.3_Silent_p.G522G|IL16_uc002bgg.2_Silent_p.G522G|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Silent_p.G16G|IL16_uc002bgk.2_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	522					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4														0.416667	122.17992	122.76271	40	56	KEEP	---	---	---	---	capture		Silent	SNP	81585042	81585042	7934	15	G	T	T	T	548	43	IL16	2	2
AKAP13	11214	broad.mit.edu	37	15	86266326	86266326	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:86266326C>A	uc002blu.1	+	c.6532C>A	c.(6532-6534)CTA>ATA	p.L2178I	AKAP13_uc002blv.1_Missense_Mutation_p.L2174I|AKAP13_uc010bnf.1_Missense_Mutation_p.L795I|AKAP13_uc002blw.1_Missense_Mutation_p.L639I|AKAP13_uc002blx.1_Missense_Mutation_p.L419I	NM_006738	NP_006729	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 1	2174	Interaction with ESR1.|DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|ovary(1)|liver(1)	8						Melanoma(94;603 1453 3280 32295 32951)								0.36129	168.145501	170.775267	56	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86266326	86266326	452	15	C	A	A	A	415	32	AKAP13	2	2
AGBL1	123624	broad.mit.edu	37	15	86702201	86702201	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:86702201G>T	uc002blz.1	+	c.294G>T	c.(292-294)ATG>ATT	p.M98I		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	98					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0														0.340136	311.803136	318.448213	100	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86702201	86702201	377	15	G	T	T	T	611	47	AGBL1	2	2
ACAN	176	broad.mit.edu	37	15	89400186	89400186	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89400186T>C	uc010upo.1	+	c.4370T>C	c.(4369-4371)CTA>CCA	p.L1457P	ACAN_uc010upp.1_Missense_Mutation_p.L1457P|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)											0.40625	45.069435	45.315084	13	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89400186	89400186	118	15	T	C	C	C	689	53	ACAN	4	4
C15orf42	90381	broad.mit.edu	37	15	90138748	90138748	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90138748G>T	uc002boe.2	+	c.1806G>T	c.(1804-1806)GTG>GTT	p.V602V		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	602					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|response to ionizing radiation|S-M checkpoint	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)	6	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)											0.352041	217.01535	220.80031	69	127	KEEP	---	---	---	---	capture		Silent	SNP	90138748	90138748	1846	15	G	T	T	T	600	47	C15orf42	2	2
CACNA1H	8912	broad.mit.edu	37	16	1261227	1261227	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1261227G>T	uc002cks.2	+	c.4283G>T	c.(4282-4284)AGG>ATG	p.R1428M	CACNA1H_uc002ckt.2_Missense_Mutation_p.R1428M|CACNA1H_uc002cku.2_Missense_Mutation_p.R134M|CACNA1H_uc010brj.2_Missense_Mutation_p.R134M|CACNA1H_uc002ckv.2_Missense_Mutation_p.R134M	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1428	Cytoplasmic (Potential).|III.				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.4	25.795902	25.970887	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1261227	1261227	2661	16	G	T	T	T	455	35	CACNA1H	2	2
MYH11	4629	broad.mit.edu	37	16	15829246	15829246	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:15829246G>T	uc002ddx.2	-	c.3504C>A	c.(3502-3504)AGC>AGA	p.S1168R	MYH11_uc002ddv.2_Missense_Mutation_p.S1168R|MYH11_uc002ddw.2_Missense_Mutation_p.S1161R|MYH11_uc002ddy.2_Missense_Mutation_p.S1161R|MYH11_uc010bvg.2_Missense_Mutation_p.S993R	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1161	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(4)|skin(2)|lung(1)	7										1257				0.205882	68.923436	79.831445	28	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15829246	15829246	10426	16	G	T	T	T	594	46	MYH11	2	2
ANKS4B	257629	broad.mit.edu	37	16	21261202	21261202	+	Silent	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21261202T>A	uc010bwp.1	+	c.315T>A	c.(313-315)GCT>GCA	p.A105A	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	105	ANK 3.									ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)										0.25	125.720373	135.714834	44	132	KEEP	---	---	---	---	capture		Silent	SNP	21261202	21261202	699	16	T	A	A	A	704	55	ANKS4B	3	3
TNRC6A	27327	broad.mit.edu	37	16	24817548	24817548	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24817548A>G	uc002dmm.2	+	c.4273A>G	c.(4273-4275)AGG>GGG	p.R1425G	TNRC6A_uc010bxs.2_Missense_Mutation_p.R1172G|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1123G|TNRC6A_uc002dmo.2_Missense_Mutation_p.R1064G|TNRC6A_uc002dmp.2_Missense_Mutation_p.R26G|TNRC6A_uc002dmq.2_Missense_Mutation_p.R92G	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1425					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)										0.253968	199.484907	213.325125	64	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24817548	24817548	16881	16	A	G	G	G	36	3	TNRC6A	4	4
IL27	246778	broad.mit.edu	37	16	28515060	28515060	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28515060G>T	uc002dqc.2	-	c.259C>A	c.(259-261)CTC>ATC	p.L87I		NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	87					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0														0.222222	29.369801	33.203977	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28515060	28515060	7981	16	G	T	T	T	442	34	IL27	2	2
ATP2A1	487	broad.mit.edu	37	16	28906166	28906166	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28906166C>A	uc002dro.1	+	c.1311C>A	c.(1309-1311)GTC>GTA	p.V437V	ATP2A1_uc002drn.1_Silent_p.V437V|ATP2A1_uc002drp.1_Silent_p.V312V	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	437	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	calcium channel complex|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.166667	16.271635	21.326971	8	40	KEEP	---	---	---	---	capture		Silent	SNP	28906166	28906166	1155	16	C	A	A	A	392	31	ATP2A1	1	1
ITGAM	3684	broad.mit.edu	37	16	31309152	31309152	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31309152G>T	uc002ebr.2	+	c.1587G>T	c.(1585-1587)GGG>GGT	p.G529G	ITGAM_uc002ebq.2_Silent_p.G528G|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	integrin alpha M isoform 1 precursor	528	FG-GAP 6.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.230171	355.041329	397.978704	148	495	KEEP	---	---	---	---	capture		Silent	SNP	31309152	31309152	8191	16	G	T	T	T	548	43	ITGAM	2	2
ADCY9	115	broad.mit.edu	37	16	4164474	4164474	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4164474C>T	uc002cvx.2	-	c.970G>A	c.(970-972)GAA>AAA	p.E324K		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	324	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)	5														0.324324	34.885827	35.89998	12	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4164474	4164474	302	16	C	T	T	T	390	30	ADCY9	2	2
ABCC11	85320	broad.mit.edu	37	16	48218375	48218375	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48218375G>T	uc002eff.1	-	c.3234C>A	c.(3232-3234)GTC>GTA	p.V1078V	ABCC11_uc002efg.1_Silent_p.V1078V|ABCC11_uc002efh.1_Silent_p.V1078V|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1078	Cytoplasmic (Potential).|ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.379121	420.851569	425.522113	138	226	KEEP	---	---	---	---	capture		Silent	SNP	48218375	48218375	52	16	G	T	T	T	574	45	ABCC11	2	2
ZNF423	23090	broad.mit.edu	37	16	49559353	49559353	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:49559353C>A	uc002efs.2	-	c.3630G>T	c.(3628-3630)CCG>CCT	p.P1210P	ZNF423_uc010vgn.1_Silent_p.P1093P	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1210	C2H2-type 28.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription activator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)								386				0.176471	34.675072	43.057275	15	70	KEEP	---	---	---	---	capture		Silent	SNP	49559353	49559353	18491	16	C	A	A	A	288	23	ZNF423	1	1
NOD2	64127	broad.mit.edu	37	16	50744734	50744734	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50744734C>A	uc002egm.1	+	c.912C>A	c.(910-912)GGC>GGA	p.G304G	NOD2_uc010cbk.1_Silent_p.G277G|NOD2_uc002egl.1_Silent_p.G82G|NOD2_uc010cbl.1_Silent_p.G82G|NOD2_uc010cbm.1_Silent_p.G82G|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	304	NACHT.|ATP (Potential).				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)	3		all_cancers(37;0.0156)												0.272727	24.562304	26.09748	9	24	KEEP	---	---	---	---	capture		Silent	SNP	50744734	50744734	10920	16	C	A	A	A	314	25	NOD2	2	2
NOD2	64127	broad.mit.edu	37	16	50745614	50745614	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50745614C>A	uc002egm.1	+	c.1792C>A	c.(1792-1794)CCC>ACC	p.P598T	NOD2_uc010cbk.1_Missense_Mutation_p.P571T|NOD2_uc002egl.1_Missense_Mutation_p.P376T|NOD2_uc010cbl.1_Missense_Mutation_p.P376T|NOD2_uc010cbm.1_Missense_Mutation_p.P376T|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	598	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)	3		all_cancers(37;0.0156)												0.210526	18.184939	21.126461	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50745614	50745614	10920	16	C	A	A	A	338	26	NOD2	2	2
CYLD	1540	broad.mit.edu	37	16	50788335	50788335	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50788335G>T	uc002egp.1	+	c.913G>T	c.(913-915)GCT>TCT	p.A305S	CYLD_uc002egn.1_Nonsense_Mutation_p.E305*|CYLD_uc002ego.2_Nonsense_Mutation_p.E305*|CYLD_uc010cbs.1_Nonsense_Mutation_p.E305*|CYLD_uc002egq.1_Nonsense_Mutation_p.E305*|CYLD_uc002egr.1_Nonsense_Mutation_p.E305*|CYLD_uc002egs.1_Nonsense_Mutation_p.E305*	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	305	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)								247				0.5	124.200233	124.200233	36	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50788335	50788335	4308	16	G	T	T	T	455	35	CYLD	2	2
SALL1	6299	broad.mit.edu	37	16	51173730	51173730	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51173730G>T	uc010vgs.1	-	c.2403C>A	c.(2401-2403)AGC>AGA	p.S801R	SALL1_uc010vgr.1_Missense_Mutation_p.S704R|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	801					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.470588	284.6776	284.819069	88	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51173730	51173730	14290	16	G	T	T	T	438	34	SALL1	2	2
CHD9	80205	broad.mit.edu	37	16	53342725	53342725	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:53342725A>G	uc002ehb.2	+	c.7181A>G	c.(7180-7182)GAG>GGG	p.E2394G	CHD9_uc002egy.2_Missense_Mutation_p.E2378G|CHD9_uc002ehc.2_Missense_Mutation_p.E2379G|CHD9_uc002ehf.2_Missense_Mutation_p.E1492G|CHD9_uc010cbw.2_Missense_Mutation_p.E460G|CHD9_uc002ehg.1_Missense_Mutation_p.E401G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2394	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleoplasm	ATP binding|chromatin binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)								1157				0.177419	55.271996	67.425414	22	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53342725	53342725	3466	16	A	G	G	G	143	11	CHD9	4	4
CES7	221223	broad.mit.edu	37	16	55880525	55880525	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55880525G>T	uc002eip.2	-	c.1566C>A	c.(1564-1566)GAC>GAA	p.D522E	CES7_uc002eio.2_Missense_Mutation_p.D472E|CES7_uc002eiq.2_Missense_Mutation_p.D283E|CES7_uc002eir.2_Missense_Mutation_p.D416E	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	522					regulation of synaptic transmission	extracellular region	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)										0.402509	1124.990202	1132.282038	353	524	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55880525	55880525	3405	16	G	T	T	T	464	36	CES7	2	2
BBS2	583	broad.mit.edu	37	16	56536304	56536304	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:56536304C>A	uc002ejd.2	-	c.1005G>T	c.(1003-1005)CAG>CAT	p.Q335H	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	335					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1														0.247475	392.617127	427.095908	147	447	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56536304	56536304	1359	16	C	A	A	A	311	24	BBS2	2	2
SLC12A3	6559	broad.mit.edu	37	16	56901119	56901119	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:56901119G>A	uc002ekd.3	+	c.420G>A	c.(418-420)AAG>AAA	p.K140K	SLC12A3_uc010ccm.2_Silent_p.K140K|SLC12A3_uc010ccn.2_Silent_p.K139K	NM_000339	NP_000330	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 1	140	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)									0.272727	8.720015	9.232184	3	8	KEEP	---	---	---	---	capture		Silent	SNP	56901119	56901119	14879	16	G	A	A	A	451	35	SLC12A3	2	2
CDH8	1006	broad.mit.edu	37	16	61851501	61851501	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61851501C>A	uc002eog.1	-	c.1159G>T	c.(1159-1161)GAG>TAG	p.E387*	CDH8_uc002eoh.2_Nonsense_Mutation_p.E156*	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	387	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.398876	436.270353	439.457243	142	214	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61851501	61851501	3245	16	C	A	A	A	377	29	CDH8	5	2
TRADD	8717	broad.mit.edu	37	16	67190465	67190465	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67190465C>A	uc002eri.1	-	c.99G>T	c.(97-99)GCG>GCT	p.A33A	TRADD_uc002erh.1_5'Flank|TRADD_uc010vjb.1_Silent_p.A33A	NM_003789	NP_003780	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	33					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)						31		OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.255814	26.957433	29.328345	11	32	KEEP	---	---	---	---	capture		Silent	SNP	67190465	67190465	16980	16	C	A	A	A	340	27	TRADD	1	1
DPEP3	64180	broad.mit.edu	37	16	68010643	68010643	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68010643C>T	uc002evc.3	-	c.1129G>A	c.(1129-1131)GAG>AAG	p.E377K	DPEP3_uc010cex.2_Missense_Mutation_p.E376K	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	352					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)										0.3125	14.568655	15.069678	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68010643	68010643	4899	16	C	T	T	T	377	29	DPEP3	2	2
TAT	6898	broad.mit.edu	37	16	71604708	71604708	+	Silent	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71604708T>A	uc002fap.2	-	c.786A>T	c.(784-786)CCA>CCT	p.P262P		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	262					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)								0.177419	47.453636	59.640598	22	102	KEEP	---	---	---	---	capture		Silent	SNP	71604708	71604708	16112	16	T	A	A	A	756	59	TAT	3	3
CTRB2	440387	broad.mit.edu	37	16	75238132	75238132	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:75238132G>T	uc002fdr.2	-	c.719C>A	c.(718-720)ACC>AAC	p.T240N		NM_001025200	NP_001020371	Q6GPI1	CTRB2_HUMAN	chymotrypsin B2 precursor	240	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0														0.266667	57.865696	61.554006	20	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75238132	75238132	4185	16	G	T	T	T	572	44	CTRB2	2	2
SDR42E1	93517	broad.mit.edu	37	16	82033148	82033148	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:82033148C>A	uc002fgu.2	-	c.750G>T	c.(748-750)CAG>CAT	p.Q250H		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E,	250					oxidation-reduction process|steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding				0														0.192893	177.652638	212.358448	76	318	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82033148	82033148	14459	16	C	A	A	A	363	28	SDR42E1	2	2
MYH2	4620	broad.mit.edu	37	17	10432233	10432233	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10432233C>A	uc010coi.2	-	c.3518G>T	c.(3517-3519)CGG>CTG	p.R1173L	MYH2_uc002gmp.3_Missense_Mutation_p.R1173L|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1173	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.354545	123.795471	125.845811	39	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10432233	10432233	10430	17	C	A	A	A	299	23	MYH2	1	1
MAP2K4	6416	broad.mit.edu	37	17	12044543	12044543	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12044543C>T	uc002gnk.2	+	c.1199C>T	c.(1198-1200)CCA>CTA	p.P400L	MAP2K4_uc002gnj.2_Missense_Mutation_p.P389L|MAP2K4_uc010vvi.1_Missense_Mutation_p.P271L|MAP2K4_uc010vvj.1_Missense_Mutation_p.P261L	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	389					cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|protein phosphorylation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(11)|large_intestine(8)|pancreas(8)|lung(7)|ovary(3)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	45		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)						195				0.335958	394.068694	403.146119	128	253	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12044543	12044543	9622	17	C	T	T	T	273	21	MAP2K4	2	2
HS3ST3B1	9953	broad.mit.edu	37	17	14248435	14248435	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:14248435G>T	uc002goh.1	+	c.645G>T	c.(643-645)TCG>TCT	p.S215S		NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	215	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)										0.451613	96.304623	96.429162	28	34	KEEP	---	---	---	---	capture		Silent	SNP	14248435	14248435	7660	17	G	T	T	T	496	39	HS3ST3B1	1	1
MFAP4	4239	broad.mit.edu	37	17	19288711	19288711	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19288711G>T	uc002gvs.2	-	c.369C>A	c.(367-369)TAC>TAA	p.Y123*	MFAP4_uc002gvr.2_Intron|MFAP4_uc002gvt.2_Nonsense_Mutation_p.Y99*	NM_002404	NP_002395	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4 precursor	99	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding				0	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)													0.296296	46.479119	48.482922	16	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19288711	19288711	9907	17	G	T	T	T	620	48	MFAP4	5	2
SLC47A1	55244	broad.mit.edu	37	17	19445753	19445753	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19445753G>T	uc002gvx.2	+	c.183G>T	c.(181-183)GTG>GTT	p.V61V	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Silent_p.V61V|SLC47A1_uc010vyz.1_Silent_p.V61V|SLC47A1_uc010cqp.1_Silent_p.V61V	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	61	Extracellular (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)													0.313725	48.081165	49.656154	16	35	KEEP	---	---	---	---	capture		Silent	SNP	19445753	19445753	15144	17	G	T	T	T	613	48	SLC47A1	2	2
C17orf63	55731	broad.mit.edu	37	17	27093631	27093631	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27093631T>A	uc002hct.1	-	c.55A>T	c.(55-57)ACG>TCG	p.T19S	C17orf63_uc010wax.1_Missense_Mutation_p.T19S|C17orf63_uc010way.1_Missense_Mutation_p.T19S|C17orf63_uc002hcw.2_5'UTR	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	19										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)											0.295238	93.184797	97.122476	31	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27093631	27093631	1928	17	T	A	A	A	767	59	C17orf63	3	3
PSMD11	5717	broad.mit.edu	37	17	30800864	30800864	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30800864C>T	uc010cta.1	+	c.689C>T	c.(688-690)TCA>TTA	p.S230L	PSMD11_uc010wbz.1_Missense_Mutation_p.S230L|PSMD11_uc002hhm.2_Missense_Mutation_p.S230L	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	230	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			Ovarian(130;1038 1716 9294 11987 19279)								0.257862	113.010172	121.451652	41	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30800864	30800864	13147	17	C	T	T	T	377	29	PSMD11	2	2
TMEM132E	124842	broad.mit.edu	37	17	32962070	32962070	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32962070G>T	uc002hif.2	+	c.1671G>T	c.(1669-1671)ACG>ACT	p.T557T		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	557	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)										0.272727	26.060584	27.596743	9	24	KEEP	---	---	---	---	capture		Silent	SNP	32962070	32962070	16580	17	G	T	T	T	483	38	TMEM132E	1	1
SLFN13	146857	broad.mit.edu	37	17	33768287	33768287	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33768287C>G	uc002hjk.1	-	c.2021G>C	c.(2020-2022)CGT>CCT	p.R674P	SLFN13_uc010wch.1_Missense_Mutation_p.R674P|SLFN13_uc002hjl.2_Missense_Mutation_p.R674P|SLFN13_uc010ctt.2_Missense_Mutation_p.R356P|SLFN13_uc002hjm.2_Missense_Mutation_p.R343P	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	674						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)										0.194553	138.708826	161.064305	50	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33768287	33768287	15233	17	C	G	G	G	247	19	SLFN13	3	3
LYZL6	57151	broad.mit.edu	37	17	34263771	34263771	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34263771C>A	uc002hkj.1	-	c.365G>T	c.(364-366)GGG>GTG	p.G122V	LYZL6_uc002hkk.1_Missense_Mutation_p.G122V	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.237209	133.213414	146.78285	51	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34263771	34263771	9511	17	C	A	A	A	286	22	LYZL6	2	2
FBXO47	494188	broad.mit.edu	37	17	37119170	37119170	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37119170G>A	uc002hrc.2	-	c.109C>T	c.(109-111)CCC>TCC	p.P37S		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	37											0														0.217822	56.294459	63.70799	22	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37119170	37119170	5993	17	G	A	A	A	572	44	FBXO47	2	2
MAP3K14	9020	broad.mit.edu	37	17	43364128	43364128	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43364128G>A	uc002iiw.1	-	c.822C>T	c.(820-822)CCC>CCT	p.P274P	MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	274					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein phosphorylation|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|ovary(1)|lung(1)	5										697				0.263158	14.565943	15.53	5	14	KEEP	---	---	---	---	capture		Silent	SNP	43364128	43364128	9631	17	G	A	A	A	455	35	MAP3K14	2	2
PLEKHM1	9842	broad.mit.edu	37	17	43531202	43531202	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43531202A>T	uc002ija.2	-	c.2016T>A	c.(2014-2016)TTT>TTA	p.F672L	PLEKHM1_uc010wjm.1_Missense_Mutation_p.F644L|PLEKHM1_uc002ijb.2_Missense_Mutation_p.F147L|PLEKHM1_uc010wjn.1_Missense_Mutation_p.F621L|PLEKHM1_uc002ijc.2_Missense_Mutation_p.F126L	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	672					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)													0.302521	101.645677	105.79424	36	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43531202	43531202	12506	17	A	T	T	T	63	5	PLEKHM1	3	3
IMP5	162540	broad.mit.edu	37	17	43922293	43922293	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43922293C>T	uc010wka.1	+	c.21C>T	c.(19-21)CTC>CTT	p.L7L	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	7						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)								0.243902	51.856	56.759298	20	62	KEEP	---	---	---	---	capture		Silent	SNP	43922293	43922293	8022	17	C	T	T	T	379	30	IMP5	2	2
MAPT	4137	broad.mit.edu	37	17	44067349	44067349	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44067349G>T	uc010dau.2	+	c.1288G>T	c.(1288-1290)GCT>TCT	p.A430S	MAPT_uc002ijr.3_Missense_Mutation_p.A430S|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	430					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)												0.245283	136.389715	148.920946	52	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44067349	44067349	9680	17	G	T	T	T	598	46	MAPT	2	2
KIF2B	84643	broad.mit.edu	37	17	51901354	51901354	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901354G>T	uc002iua.2	+	c.960G>T	c.(958-960)ACG>ACT	p.T320T		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	320	Kinesin-motor.			T -> K (in Ref. 2; BAB71406).	blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.283898	199.032477	208.924259	67	169	KEEP	---	---	---	---	capture		Silent	SNP	51901354	51901354	8609	17	G	T	T	T	496	39	KIF2B	1	1
DDX42	11325	broad.mit.edu	37	17	61864590	61864590	+	Missense_Mutation	SNP	A	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61864590A>C	uc002jbu.2	+	c.181A>C	c.(181-183)AAA>CAA	p.K61Q	DDX42_uc002jbv.2_Missense_Mutation_p.K61Q	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	61					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|large_intestine(1)	3														0.246575	56.414398	60.681354	18	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61864590	61864590	4533	17	A	C	C	C	65	5	DDX42	4	4
SCN4A	6329	broad.mit.edu	37	17	62019252	62019252	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62019252C>T	uc002jds.1	-	c.4390G>A	c.(4390-4392)GGG>AGG	p.G1464R		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1464	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).|IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.45098	71.917092	72.023918	23	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62019252	62019252	14402	17	C	T	T	T	299	23	SCN4A	1	1
TEX2	55852	broad.mit.edu	37	17	62230430	62230430	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62230430C>G	uc002jed.2	-	c.3036G>C	c.(3034-3036)GAG>GAC	p.E1012D	TEX2_uc002jec.2_Missense_Mutation_p.E1005D|TEX2_uc002jee.2_Missense_Mutation_p.E1005D	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	1005					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)										0.175	17.899028	21.884987	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62230430	62230430	16308	17	C	G	G	G	415	32	TEX2	3	3
ABCA10	10349	broad.mit.edu	37	17	67190582	67190582	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67190582C>A	uc010dfa.1	-	c.1289G>T	c.(1288-1290)GGA>GTA	p.G430V	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.G31V	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	430	ATP 1 (Potential).|ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;6.95e-12)													0.14557	40.610427	59.705871	23	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67190582	67190582	30	17	C	A	A	A	390	30	ABCA10	2	2
TUBB6	84617	broad.mit.edu	37	18	12325202	12325202	+	Silent	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:12325202G>C	uc002kqw.2	+	c.414G>C	c.(412-414)TCG>TCC	p.S138S	TUBB6_uc002kqv.2_Silent_p.S66S|TUBB6_uc010dld.2_Non-coding_Transcript|TUBB6_uc002kqx.2_Silent_p.S101S|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	138					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)										0.294118	30.435293	31.725901	10	24	KEEP	---	---	---	---	capture		Silent	SNP	12325202	12325202	17315	18	G	C	C	C	483	38	TUBB6	3	3
C18orf1	753	broad.mit.edu	37	18	13645329	13645329	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13645329G>T	uc002ksa.2	+	c.594G>T	c.(592-594)ATG>ATT	p.M198I	C18orf1_uc002ksb.2_Missense_Mutation_p.M180I|C18orf1_uc002kse.2_Missense_Mutation_p.M161I|C18orf1_uc002ksf.2_Missense_Mutation_p.M143I|C18orf1_uc002ksg.1_Missense_Mutation_p.M121I|C18orf1_uc002ksh.1_Missense_Mutation_p.M140I|C18orf1_uc002ksi.1_Missense_Mutation_p.M122I	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	198	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)										0.25	42.395121	45.804146	15	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13645329	13645329	1955	18	G	T	T	T	611	47	C18orf1	2	2
ROCK1	6093	broad.mit.edu	37	18	18622649	18622649	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:18622649T>C	uc002kte.2	-	c.697A>G	c.(697-699)ACA>GCA	p.T233A		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	233	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|protein phosphorylation|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)									408				0.286344	215.488737	224.780321	65	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18622649	18622649	13996	18	T	C	C	C	741	57	ROCK1	4	4
LAMA3	3909	broad.mit.edu	37	18	21416983	21416983	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21416983G>T	uc002kuq.2	+	c.3023G>T	c.(3022-3024)CGC>CTC	p.R1008L	LAMA3_uc002kur.2_Missense_Mutation_p.R1008L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1008	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.177305	61.488776	75.316836	25	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21416983	21416983	8930	18	G	T	T	T	494	38	LAMA3	1	1
ZNF521	25925	broad.mit.edu	37	18	22902056	22902056	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22902056C>A	uc002kvk.2	-	c.136G>T	c.(136-138)GTG>TTG	p.V46L	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.V46L|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	46					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.350877	371.295593	378.005584	120	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22902056	22902056	18559	18	C	A	A	A	221	17	ZNF521	2	2
CHST9	83539	broad.mit.edu	37	18	24604116	24604116	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:24604116C>T	uc002kwd.2	-	c.166G>A	c.(166-168)GGA>AGA	p.G56R	C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_5'UTR|CHST9_uc002kwe.2_Missense_Mutation_p.G56R	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN	GalNAc-4-sulfotransferase 2	56	Lumenal (Potential).				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			ovary(2)	2	all_lung(6;0.0145)|Ovarian(20;0.124)													0.322581	156.400289	160.730014	50	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24604116	24604116	3545	18	C	T	T	T	286	22	CHST9	2	2
CDH2	1000	broad.mit.edu	37	18	25727729	25727729	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25727729C>A	uc002kwg.2	-	c.80G>T	c.(79-81)GGT>GTT	p.G27V		NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	27					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				0.386364	51.16366	51.662031	17	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25727729	25727729	3234	18	C	A	A	A	234	18	CDH2	2	2
SLC39A6	25800	broad.mit.edu	37	18	33706321	33706321	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:33706321T>A	uc010dmy.2	-	c.650A>T	c.(649-651)GAT>GTT	p.D217V	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	217	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2														0.321429	53.234125	54.818126	18	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33706321	33706321	15119	18	T	A	A	A	650	50	SLC39A6	3	3
FHOD3	80206	broad.mit.edu	37	18	34349242	34349242	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:34349242T>A	uc002kzs.1	+	c.4090T>A	c.(4090-4092)TGG>AGG	p.W1364R	FHOD3_uc002kzt.1_Missense_Mutation_p.W1347R|FHOD3_uc010dmz.1_Missense_Mutation_p.W1079R|FHOD3_uc010dnb.1_Silent_p.P284P	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1347					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|breast(2)|ovary(1)	5		all_epithelial(2;0.0181)|Colorectal(2;0.0195)												0.392157	201.269131	202.82676	60	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34349242	34349242	6121	18	T	A	A	A	715	55	FHOD3	3	3
CELF4	56853	broad.mit.edu	37	18	34854816	34854816	+	Silent	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:34854816G>C	uc002lae.2	-	c.609C>G	c.(607-609)GCC>GCG	p.A203A	CELF4_uc010dnd.1_Silent_p.A202A|CELF4_uc002lag.2_Silent_p.A193A|CELF4_uc002laf.2_Silent_p.A198A|CELF4_uc002lai.2_Silent_p.A188A|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_5'Flank	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	203	Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2														0.3	7.820418	8.178217	3	7	KEEP	---	---	---	---	capture		Silent	SNP	34854816	34854816	3351	18	G	C	C	C	496	39	CELF4	3	3
TCEB3C	162699	broad.mit.edu	37	18	44555227	44555227	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44555227G>A	uc010xdb.1	-	c.987C>T	c.(985-987)GCC>GCT	p.A329A	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	329	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|transcription regulator activity				0														0.050314	-14.940612	19.150119	8	151	KEEP	---	---	---	---	capture		Silent	SNP	44555227	44555227	16209	18	G	A	A	A	444	35	TCEB3C	2	2
MAPK4	5596	broad.mit.edu	37	18	48248367	48248367	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48248367G>T	uc002lev.2	+	c.751G>T	c.(751-753)GAA>TAA	p.E251*	MAPK4_uc010xdm.1_Nonsense_Mutation_p.E40*|MAPK4_uc010doz.2_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	251	Protein kinase.				cell cycle|protein phosphorylation		ATP binding|MAP kinase activity			lung(2)	2		Colorectal(6;0.0297)		Colorectal(21;0.156)						110				0.428571	27.671499	27.765009	9	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48248367	48248367	9663	18	G	T	T	T	533	41	MAPK4	5	2
EPB41L3	23136	broad.mit.edu	37	18	5416157	5416157	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5416157C>A	uc002kmt.1	-	c.1727G>T	c.(1726-1728)AGA>ATA	p.R576I	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	576	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.276151	179.54019	190.325451	66	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5416157	5416157	5347	18	C	A	A	A	416	32	EPB41L3	2	2
SERPINB2	5055	broad.mit.edu	37	18	61570386	61570386	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61570386G>T	uc010xeu.1	+	c.1095G>T	c.(1093-1095)GAG>GAT	p.E365D	SERPINB2_uc002ljo.2_Missense_Mutation_p.E365D|SERPINB2_uc010dqh.2_Missense_Mutation_p.E295D|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	365					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)									0.391026	188.524417	190.151761	61	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61570386	61570386	14589	18	G	T	T	T	451	35	SERPINB2	2	2
CDH7	1005	broad.mit.edu	37	18	63511299	63511299	+	Silent	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63511299G>C	uc002ljz.2	+	c.1233G>C	c.(1231-1233)GTG>GTC	p.V411V	CDH7_uc002lka.2_Silent_p.V411V|CDH7_uc002lkb.2_Silent_p.V411V	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	411	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.357466	279.865287	283.819412	79	142	KEEP	---	---	---	---	capture		Silent	SNP	63511299	63511299	3244	18	G	C	C	C	574	45	CDH7	3	3
ACP5	54	broad.mit.edu	37	19	11687570	11687570	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11687570A>T	uc002msg.3	-	c.350T>A	c.(349-351)GTC>GAC	p.V117D	ACP5_uc002msh.3_Missense_Mutation_p.V117D|ACP5_uc002msi.3_Missense_Mutation_p.V117D|ACP5_uc002msj.3_Missense_Mutation_p.V117D|ACP5_uc010dye.1_3'UTR	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	117					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1														0.15493	19.277051	27.358207	11	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11687570	11687570	165	19	A	T	T	T	130	10	ACP5	3	3
AP3D1	8943	broad.mit.edu	37	19	2127179	2127179	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2127179G>A	uc002lva.2	-	c.828C>T	c.(826-828)CTC>CTT	p.L276L	AP3D1_uc002luy.2_Silent_p.L185L|AP3D1_uc002luz.2_Silent_p.L276L	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	276	HEAT 5.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.272727	26.460036	27.996525	9	24	KEEP	---	---	---	---	capture		Silent	SNP	2127179	2127179	756	19	G	A	A	A	418	33	AP3D1	2	2
ZNF208	7757	broad.mit.edu	37	19	22154978	22154978	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22154978G>T	uc002nqp.2	-	c.2558C>A	c.(2557-2559)GCC>GAC	p.A853D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.34375	33.714623	34.405041	11	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22154978	22154978	18357	19	G	T	T	T	546	42	ZNF208	2	2
TMEM149	79713	broad.mit.edu	37	19	36230498	36230498	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36230498A>G	uc010eej.2	-	c.991T>C	c.(991-993)TCT>CCT	p.S331P	TMEM149_uc002obb.2_Missense_Mutation_p.S63P|TMEM149_uc002obc.2_Missense_Mutation_p.S251P|TMEM149_uc002obd.3_Missense_Mutation_p.S251P|TMEM149_uc010xsy.1_Non-coding_Transcript	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	251	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.423077	38.821772	38.955812	11	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36230498	36230498	16594	19	A	G	G	G	130	10	TMEM149	4	4
ZNF570	148268	broad.mit.edu	37	19	37976118	37976118	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37976118A>T	uc010efl.1	+	c.1762A>T	c.(1762-1764)AAT>TAT	p.N588Y	ZNF570_uc002ogk.1_Missense_Mutation_p.N532Y|ZNF570_uc010xtr.1_Missense_Mutation_p.N329Y	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.340659	87.494641	89.537949	31	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37976118	37976118	18597	19	A	T	T	T	65	5	ZNF570	3	3
RYR1	6261	broad.mit.edu	37	19	38976573	38976573	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38976573C>A	uc002oit.2	+	c.5278C>A	c.(5278-5280)CAT>AAT	p.H1760N	RYR1_uc002oiu.2_Missense_Mutation_p.H1760N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1760	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.346154	26.466794	27.010277	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38976573	38976573	14248	19	C	A	A	A	325	25	RYR1	2	2
TMEM143	55260	broad.mit.edu	37	19	48845927	48845927	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48845927C>T	uc002pix.1	-	c.835G>A	c.(835-837)GCC>ACC	p.A279T	TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.A244T|TMEM143_uc010xzn.1_Missense_Mutation_p.A214T|TMEM143_uc010elw.1_Missense_Mutation_p.A179T|TMEM143_uc010xzo.1_Missense_Mutation_p.A69T	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	279						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)										0.322751	178.314533	183.583695	61	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48845927	48845927	16589	19	C	T	T	T	351	27	TMEM143	1	1
GPR32	2854	broad.mit.edu	37	19	51274539	51274539	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51274539C>T	uc010ycf.1	+	c.682C>T	c.(682-684)CCC>TCC	p.P228S		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	228	Helical; Name=5; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		Esophageal Squamous(113;152 1581 5732 15840 44398)								0.282051	28.604514	30.27219	11	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51274539	51274539	6963	19	C	T	T	T	338	26	GPR32	2	2
KLK15	55554	broad.mit.edu	37	19	51330233	51330233	+	Missense_Mutation	SNP	G	T	T	rs7247190		TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51330233G>T	uc002ptl.2	-	c.382C>A	c.(382-384)CCC>ACC	p.P128T	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.P128T|KLK15_uc002pto.2_Missense_Mutation_p.P127T|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.P127T|KLK15_uc010eod.2_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		Pancreas(140;10 2513 7143 9246)								0.316667	54.103249	55.896704	19	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51330233	51330233	8717	19	G	T	T	T	572	44	KLK15	2	2
NLRP12	91662	broad.mit.edu	37	19	54304586	54304586	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54304586T>C	uc002qcj.3	-	c.2654A>G	c.(2653-2655)CAG>CGG	p.Q885R	NLRP12_uc010eqw.2_Missense_Mutation_p.Q167R|NLRP12_uc002qch.3_Missense_Mutation_p.Q884R|NLRP12_uc002qci.3_Missense_Mutation_p.Q884R|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	884					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)										0.304348	22.015703	22.801588	7	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54304586	54304586	10877	19	T	C	C	C	715	55	NLRP12	4	4
NLRP4	147945	broad.mit.edu	37	19	56369712	56369712	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56369712C>A	uc002qmd.3	+	c.953C>A	c.(952-954)CCG>CAG	p.P318Q	NLRP4_uc002qmf.2_Missense_Mutation_p.P243Q|NLRP4_uc010etf.2_Missense_Mutation_p.P149Q	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	318	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)										0.48	124.898939	124.92492	36	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56369712	56369712	10882	19	C	A	A	A	299	23	NLRP4	1	1
ZIM3	114026	broad.mit.edu	37	19	57646630	57646630	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57646630C>T	uc002qnz.1	-	c.1075G>A	c.(1075-1077)GGG>AGG	p.G359R		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.388601	243.178344	245.27797	75	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57646630	57646630	18276	19	C	T	T	T	273	21	ZIM3	2	2
MUC16	94025	broad.mit.edu	37	19	9020128	9020128	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9020128A>T	uc002mkp.2	-	c.37367T>A	c.(37366-37368)GTG>GAG	p.V12456E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12458	Extracellular (Potential).|SEA 3.				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														0.384733	793.003054	800.645563	252	403	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9020128	9020128	10367	19	A	T	T	T	78	6	MUC16	3	3
MUC16	94025	broad.mit.edu	37	19	9047436	9047436	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9047436C>A	uc002mkp.2	-	c.34195G>T	c.(34195-34197)GAT>TAT	p.D11399Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11401	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.385078	961.483316	971.112161	320	511	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9047436	9047436	10367	19	C	A	A	A	377	29	MUC16	2	2
S1PR1	1901	broad.mit.edu	37	1	101704717	101704717	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:101704717C>A	uc001dud.2	+	c.177C>A	c.(175-177)ATC>ATA	p.I59I	S1PR1_uc009weg.2_Silent_p.I59I	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	59	Helical; Name=1; (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)	2												OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.20122	160.852894	188.074332	66	262	KEEP	---	---	---	---	capture		Silent	SNP	101704717	101704717	14273	1	C	A	A	A	369	29	S1PR1	2	2
AMY1A	276	broad.mit.edu	37	1	104297213	104297213	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:104297213G>T	uc001duy.2	+	c.971G>T	c.(970-972)GGA>GTA	p.G324V	AMY1A_uc001duz.2_Missense_Mutation_p.G324V	NM_001008221	NP_001008222	P04745	AMY1_HUMAN	salivary amylase alpha 1A precursor	324					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)								0.21066	193.191571	223.716202	83	311	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104297213	104297213	594	1	G	T	T	T	533	41	AMY1A	2	2
FAM40A	85369	broad.mit.edu	37	1	110584388	110584388	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110584388A>T	uc001dza.1	+	c.790A>T	c.(790-792)ATC>TTC	p.I264F	FAM40A_uc001dyz.1_Missense_Mutation_p.I169F|FAM40A_uc009wfp.1_Missense_Mutation_p.I88F	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	264						nucleus	protein binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)										0.197802	93.800463	109.270903	36	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110584388	110584388	5781	1	A	T	T	T	104	8	FAM40A	3	3
KCNC4	3749	broad.mit.edu	37	1	110754218	110754218	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110754218G>T	uc009wfr.2	+	c.97G>T	c.(97-99)GAG>TAG	p.E33*	KCNC4_uc001dzf.2_Nonsense_Mutation_p.E33*|KCNC4_uc001dzg.2_Nonsense_Mutation_p.E33*|KCNC4_uc001dzh.2_Nonsense_Mutation_p.E33*|KCNC4_uc001dzi.2_Non-coding_Transcript	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	33	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)										0.12	4.406666	7.948407	3	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	110754218	110754218	8322	1	G	T	T	T	481	37	KCNC4	5	1
CHI3L2	1117	broad.mit.edu	37	1	111778693	111778693	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111778693G>T	uc001eam.2	+	c.653G>T	c.(652-654)TGG>TTG	p.W218L	CHI3L2_uc001ean.2_Missense_Mutation_p.W208L|CHI3L2_uc001eao.2_Missense_Mutation_p.W139L|CHI3L2_uc009wga.2_Missense_Mutation_p.W139L	NM_004000	NP_003991	Q15782	CH3L2_HUMAN	chitinase 3-like 2 isoform a	218					chitin catabolic process	extracellular space	cation binding|chitinase activity			central_nervous_system(1)	1		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)										0.226519	109.476615	121.906651	41	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111778693	111778693	3475	1	G	T	T	T	611	47	CHI3L2	2	2
SLC16A1	6566	broad.mit.edu	37	1	113456702	113456702	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:113456702G>A	uc001ecx.2	-	c.1314C>T	c.(1312-1314)TTC>TTT	p.F438F	SLC16A1_uc001ecy.2_Silent_p.F438F	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	438	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)									0.297753	152.00015	158.512138	53	125	KEEP	---	---	---	---	capture		Silent	SNP	113456702	113456702	14898	1	G	A	A	A	581	45	SLC16A1	2	2
HSD3B2	3284	broad.mit.edu	37	1	119964605	119964605	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119964605G>C	uc001ehs.2	+	c.481G>C	c.(481-483)GCT>CCT	p.A161P	HSD3B2_uc001eht.2_Missense_Mutation_p.A161P|HSD3B2_uc001ehu.2_Intron	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2	161					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|oxidation-reduction process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)									0.217054	78.128218	87.652221	28	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119964605	119964605	7686	1	G	C	C	C	598	46	HSD3B2	3	3
SSU72	29101	broad.mit.edu	37	1	1500240	1500240	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1500240C>T	uc001agd.2	-	c.137G>A	c.(136-138)GGA>GAA	p.G46E	SSU72_uc009vkg.1_Missense_Mutation_p.G46E|SSU72_uc001age.1_Missense_Mutation_p.G46E	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Ssu72 RNA polymerase II CTD phosphatase homolog	46					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity				0	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)						170				0.076923	0.255719	9.785897	4	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1500240	1500240	15718	1	C	T	T	T	390	30	SSU72	2	2
C1orf56	54964	broad.mit.edu	37	1	151020974	151020974	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151020974C>A	uc001ewn.2	+	c.651C>A	c.(649-651)ACC>ACA	p.T217T		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	217						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GBM(146;891 3320 6873)						OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.243902	53.158452	58.059749	20	62	KEEP	---	---	---	---	capture		Silent	SNP	151020974	151020974	2122	1	C	A	A	A	262	21	C1orf56	2	2
FLG	2312	broad.mit.edu	37	1	152277375	152277375	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152277375G>C	uc001ezu.1	-	c.9987C>G	c.(9985-9987)GAC>GAG	p.D3329E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3329	Filaggrin 20.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.279249	792.485993	832.188398	253	653	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152277375	152277375	6160	1	G	C	C	C	620	48	FLG	3	3
FLG	2312	broad.mit.edu	37	1	152282083	152282083	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152282083C>G	uc001ezu.1	-	c.5279G>C	c.(5278-5280)GGA>GCA	p.G1760A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1760	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.346484	697.182975	709.309433	202	381	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152282083	152282083	6160	1	C	G	G	G	390	30	FLG	3	3
LCE1E	353135	broad.mit.edu	37	1	152759841	152759841	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152759841C>T	uc001fan.2	+	c.66C>T	c.(64-66)CCC>CCT	p.P22P		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	22	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.271493	157.695883	168.105933	60	161	KEEP	---	---	---	---	capture		Silent	SNP	152759841	152759841	8986	1	C	T	T	T	262	21	LCE1E	2	2
NUP210L	91181	broad.mit.edu	37	1	153995618	153995618	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153995618C>T	uc001fdw.2	-	c.4278G>A	c.(4276-4278)CAG>CAA	p.Q1426Q	NUP210L_uc009woq.2_Silent_p.Q335Q|NUP210L_uc010peh.1_Silent_p.Q1426Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1426						integral to membrane				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)											0.225	91.110871	102.23058	36	124	KEEP	---	---	---	---	capture		Silent	SNP	153995618	153995618	11166	1	C	T	T	T	363	28	NUP210L	2	2
BCAN	63827	broad.mit.edu	37	1	156618448	156618448	+	Silent	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156618448C>G	uc001fpp.2	+	c.858C>G	c.(856-858)ACC>ACG	p.T286T	BCAN_uc001fpo.2_Silent_p.T286T	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	286	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.406926	301.31047	303.057629	94	137	KEEP	---	---	---	---	capture		Silent	SNP	156618448	156618448	1366	1	C	G	G	G	262	21	BCAN	3	3
SH2D2A	9047	broad.mit.edu	37	1	156784833	156784833	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156784833G>T	uc009wsh.2	-	c.304C>A	c.(304-306)CGG>AGG	p.R102R	SH2D2A_uc001fqc.1_Silent_p.R74R|SH2D2A_uc001fqd.2_Silent_p.R102R|SH2D2A_uc001fqe.2_Silent_p.R84R|SH2D2A_uc010phs.1_Silent_p.R102R|NTRK1_uc001fqf.1_5'Flank|NTRK1_uc009wsi.1_5'Flank	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 1	102	SH2.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									2				0.137255	13.792017	20.282987	7	44	KEEP	---	---	---	---	capture		Silent	SNP	156784833	156784833	14723	1	G	T	T	T	506	39	SH2D2A	1	1
KIRREL	55243	broad.mit.edu	37	1	158063219	158063219	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158063219A>T	uc001frn.3	+	c.1562A>T	c.(1561-1563)TAC>TTC	p.Y521F	KIRREL_uc010pib.1_Missense_Mutation_p.Y421F|KIRREL_uc009wsq.2_Missense_Mutation_p.Y357F|KIRREL_uc001fro.3_Missense_Mutation_p.Y335F	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	521	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)													0.393939	232.696103	234.648191	78	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158063219	158063219	8636	1	A	T	T	T	182	14	KIRREL	3	3
CELA2B	51032	broad.mit.edu	37	1	15809791	15809791	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15809791C>A	uc001awl.2	+	c.389C>A	c.(388-390)CCC>CAC	p.P130H		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	130	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1														0.350649	82.402586	83.91749	27	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15809791	15809791	3345	1	C	A	A	A	286	22	CELA2B	2	2
CD1D	912	broad.mit.edu	37	1	158151904	158151904	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158151904A>T	uc001frr.2	+	c.411A>T	c.(409-411)CAA>CAT	p.Q137H	CD1D_uc009wsr.1_Missense_Mutation_p.Q137H|CD1D_uc009wss.2_Missense_Mutation_p.Q137H|CD1D_uc009wst.1_Missense_Mutation_p.Q33H	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	137	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding|receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.234694	308.868134	340.421715	115	375	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158151904	158151904	3104	1	A	T	T	T	37	3	CD1D	3	3
SPTA1	6708	broad.mit.edu	37	1	158583631	158583631	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158583631C>A	uc001fst.1	-	c.6869G>T	c.(6868-6870)CGC>CTC	p.R2290L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2290	EF-hand 1.|1 (Potential).				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.055901	-11.258608	22.128845	9	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158583631	158583631	15630	1	C	A	A	A	351	27	SPTA1	1	1
SPTA1	6708	broad.mit.edu	37	1	158644393	158644393	+	Silent	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158644393A>T	uc001fst.1	-	c.1185T>A	c.(1183-1185)GCT>GCA	p.A395A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	395	Spectrin 5.			A -> G (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.377868	930.933423	940.629085	280	461	KEEP	---	---	---	---	capture		Silent	SNP	158644393	158644393	15630	1	A	T	T	T	80	7	SPTA1	3	3
ATP1A4	480	broad.mit.edu	37	1	160146346	160146346	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160146346T>A	uc001fve.3	+	c.2544T>A	c.(2542-2544)GAT>GAA	p.D848E	ATP1A4_uc001fvf.3_Non-coding_Transcript|ATP1A4_uc001fvg.2_Missense_Mutation_p.D351E|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	848	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)	2	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.312169	179.760248	185.694432	59	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160146346	160146346	1150	1	T	A	A	A	634	49	ATP1A4	3	3
LY9	4063	broad.mit.edu	37	1	160784485	160784485	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160784485C>A	uc001fwu.2	+	c.1006C>A	c.(1006-1008)CAT>AAT	p.H336N	LY9_uc010pjs.1_Missense_Mutation_p.H336N|LY9_uc001fwv.2_Missense_Mutation_p.H336N|LY9_uc001fww.2_Missense_Mutation_p.H336N|LY9_uc001fwx.2_Missense_Mutation_p.H336N|LY9_uc001fwy.1_Missense_Mutation_p.H238N|LY9_uc001fwz.2_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	336	Extracellular (Potential).|Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.349315	157.879268	160.805406	51	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160784485	160784485	9478	1	C	A	A	A	273	21	LY9	2	2
DPT	1805	broad.mit.edu	37	1	168670292	168670292	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:168670292T>A	uc001gfp.2	-	c.502A>T	c.(502-504)ATC>TTC	p.I168F		NM_001937	NP_001928	Q07507	DERM_HUMAN	dermatopontin precursor	168	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				ovary(1)	1	all_hematologic(923;0.208)													0.304046	783.316815	812.943008	263	602	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168670292	168670292	4923	1	T	A	A	A	637	49	DPT	3	3
SELP	6403	broad.mit.edu	37	1	169566297	169566297	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169566297A>T	uc001ggi.3	-	c.1823T>A	c.(1822-1824)CTG>CAG	p.L608Q	SELP_uc001ggh.2_Missense_Mutation_p.L443Q|SELP_uc009wvr.2_Missense_Mutation_p.L608Q	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	608	Extracellular (Potential).|Sushi 7.				defense response to Gram-negative bacterium|platelet activation|platelet degranulation|positive regulation of platelet activation|response to lipopolysaccharide	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)	2	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)									0.098592	20.006139	54.344657	21	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169566297	169566297	14505	1	A	T	T	T	91	7	SELP	3	3
C1orf9	51430	broad.mit.edu	37	1	172558355	172558355	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:172558355G>T	uc001giq.3	+	c.2114G>T	c.(2113-2115)AGT>ATT	p.S705I	C1orf9_uc010pmm.1_Missense_Mutation_p.S705I|C1orf9_uc009wwd.2_Missense_Mutation_p.S661I|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	705					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		Colon(43;174 953 11768 38880 47057)								0.391775	599.975306	604.714374	181	281	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172558355	172558355	2143	1	G	T	T	T	468	36	C1orf9	2	2
PAPPA2	60676	broad.mit.edu	37	1	176738883	176738883	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176738883C>T	uc001gkz.2	+	c.4464C>T	c.(4462-4464)CGC>CGT	p.R1488R	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1488	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.097282	57.260825	170.813951	68	631	KEEP	---	---	---	---	capture		Silent	SNP	176738883	176738883	11850	1	C	T	T	T	353	28	PAPPA2	2	2
ASTN1	460	broad.mit.edu	37	1	176927497	176927497	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176927497C>G	uc001glc.2	-	c.1720G>C	c.(1720-1722)GAT>CAT	p.D574H	ASTN1_uc001glb.1_Missense_Mutation_p.D574H|ASTN1_uc001gld.1_Missense_Mutation_p.D574H|ASTN1_uc009wwx.1_Missense_Mutation_p.D574H	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	582					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.279528	234.814474	245.916578	71	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176927497	176927497	1083	1	C	G	G	G	390	30	ASTN1	3	3
ASTN1	460	broad.mit.edu	37	1	176998824	176998824	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176998824C>G	uc001glc.2	-	c.1066G>C	c.(1066-1068)GAC>CAC	p.D356H	ASTN1_uc001glb.1_Missense_Mutation_p.D356H|ASTN1_uc001gld.1_Missense_Mutation_p.D356H|ASTN1_uc009wwx.1_Missense_Mutation_p.D356H|ASTN1_uc001gle.3_Non-coding_Transcript|MIR488_hsa-mir-488|MI0003123_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	356					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.2875	74.593917	77.83241	23	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176998824	176998824	1083	1	C	G	G	G	403	31	ASTN1	3	3
KIAA1614	57710	broad.mit.edu	37	1	180885793	180885793	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180885793C>T	uc001gok.2	+	c.554C>T	c.(553-555)CCG>CTG	p.P185L		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	185										ovary(3)	3														0.394737	48.216339	48.585021	15	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180885793	180885793	8557	1	C	T	T	T	299	23	KIAA1614	1	1
CACNA1E	777	broad.mit.edu	37	1	181546938	181546938	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181546938C>A	uc001gow.2	+	c.549C>A	c.(547-549)CAC>CAA	p.H183Q	CACNA1E_uc009wxr.2_Missense_Mutation_p.H90Q|CACNA1E_uc009wxs.2_Missense_Mutation_p.H90Q	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	183	I.|Extracellular (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.340278	158.841476	162.083664	49	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181546938	181546938	2658	1	C	A	A	A	246	19	CACNA1E	1	1
C1orf25	81627	broad.mit.edu	37	1	185106753	185106753	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:185106753C>G	uc001grf.3	-	c.1498G>C	c.(1498-1500)GGT>CGT	p.G500R	C1orf25_uc010pon.1_Missense_Mutation_p.G344R	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	500						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0														0.085616	6.442193	57.286655	25	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185106753	185106753	2108	1	C	G	G	G	273	21	C1orf25	3	3
HMCN1	83872	broad.mit.edu	37	1	185959564	185959564	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:185959564G>A	uc001grq.1	+	c.3366G>A	c.(3364-3366)CCG>CCA	p.P1122P	HMCN1_uc001grr.1_Silent_p.P463P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1122	Ig-like C2-type 8.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.33121	154.446181	158.409954	52	105	KEEP	---	---	---	---	capture		Silent	SNP	185959564	185959564	7511	1	G	A	A	A	509	40	HMCN1	1	1
HMCN1	83872	broad.mit.edu	37	1	186114898	186114898	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186114898G>T	uc001grq.1	+	c.14451G>T	c.(14449-14451)TGG>TGT	p.W4817C	HMCN1_uc001grs.1_Missense_Mutation_p.W386C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4817	TSP type-1 6.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.218579	95.387907	108.7568	40	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186114898	186114898	7511	1	G	T	T	T	559	43	HMCN1	2	2
KCNT2	343450	broad.mit.edu	37	1	196197364	196197364	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196197364G>T	uc001gtd.1	-	c.3398C>A	c.(3397-3399)ACT>AAT	p.T1133N	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.T1066N|KCNT2_uc001gtf.1_Missense_Mutation_p.T1109N|KCNT2_uc001gtg.1_Non-coding_Transcript	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1133	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														0.22314	71.257581	79.787422	27	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196197364	196197364	8397	1	G	T	T	T	468	36	KCNT2	2	2
PTPRC	5788	broad.mit.edu	37	1	198721475	198721475	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:198721475G>T	uc001gur.1	+	c.3299G>T	c.(3298-3300)CGT>CTT	p.R1100L	PTPRC_uc001gus.1_Missense_Mutation_p.R1052L|PTPRC_uc001gut.1_Missense_Mutation_p.R939L	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1100	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.212987	223.945212	253.240718	82	303	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198721475	198721475	13254	1	G	T	T	T	520	40	PTPRC	1	1
PPFIA4	8497	broad.mit.edu	37	1	203024729	203024729	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203024729G>T	uc010pqf.1	+	c.1120G>T	c.(1120-1122)GGC>TGC	p.G374C	PPFIA4_uc009xaj.2_Missense_Mutation_p.G792C|PPFIA4_uc001gyz.2_Missense_Mutation_p.G161C|PPFIA4_uc001gza.2_Missense_Mutation_p.G161C|PPFIA4_uc001gzb.1_5'Flank	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	161					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5														0.30303	61.289252	63.566622	20	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203024729	203024729	12742	1	G	T	T	T	507	39	PPFIA4	1	1
MYOG	4656	broad.mit.edu	37	1	203053128	203053128	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203053128G>T	uc001gzd.2	-	c.585C>A	c.(583-585)GCC>GCA	p.A195A		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	195					muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(1)	1														0.235294	9.99073	11.080667	4	13	KEEP	---	---	---	---	capture		Silent	SNP	203053128	203053128	10485	1	G	T	T	T	548	43	MYOG	2	2
MFSD4	148808	broad.mit.edu	37	1	205538353	205538353	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205538353G>C	uc001hcv.3	+	c.156G>C	c.(154-156)CAG>CAC	p.Q52H	MFSD4_uc010prk.1_Missense_Mutation_p.Q52H|MFSD4_uc010prl.1_Non-coding_Transcript	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	52					transmembrane transport	integral to membrane				central_nervous_system(1)	1	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)							431				0.666667	7.951648	8.024915	2	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205538353	205538353	9923	1	G	C	C	C	425	33	MFSD4	3	3
HHIPL2	79802	broad.mit.edu	37	1	222713410	222713410	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222713410C>A	uc001hnh.1	-	c.1392G>T	c.(1390-1392)TGG>TGT	p.W464C		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	464					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)										0.291667	260.597514	273.670112	98	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222713410	222713410	7378	1	C	A	A	A	390	30	HHIPL2	2	2
C1orf55	163859	broad.mit.edu	37	1	226176062	226176062	+	Silent	SNP	T	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226176062T>G	uc001hpu.3	-	c.669A>C	c.(667-669)GCA>GCC	p.A223A	C1orf55_uc001hpv.2_Silent_p.A223A	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	223										lung(1)	1	Breast(184;0.197)													0.313187	181.908908	187.562074	57	125	KEEP	---	---	---	---	capture		Silent	SNP	226176062	226176062	2121	1	T	G	G	G	704	55	C1orf55	4	4
ITPKB	3707	broad.mit.edu	37	1	226822507	226822507	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226822507C>A	uc010pvo.1	-	c.2706G>T	c.(2704-2706)ACG>ACT	p.T902T		NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	902							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				Colon(84;110 1851 5306 33547)								0.2	17.504636	20.434452	7	28	KEEP	---	---	---	---	capture		Silent	SNP	226822507	226822507	8222	1	C	A	A	A	340	27	ITPKB	1	1
CDC42BPA	8476	broad.mit.edu	37	1	227219083	227219083	+	Silent	SNP	T	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:227219083T>G	uc001hqr.2	-	c.3586A>C	c.(3586-3588)AGA>CGA	p.R1196R	CDC42BPA_uc001hqq.2_Silent_p.R495R|CDC42BPA_uc001hqs.2_Silent_p.R1115R|CDC42BPA_uc009xes.2_Silent_p.R1168R|CDC42BPA_uc010pvs.1_Silent_p.R1176R|CDC42BPA_uc001hqp.2_Silent_p.R352R|CDC42BPA_uc001hqt.2_Silent_p.R74R|CDC42BPA_uc001hqu.1_Silent_p.R403R	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1209					actin cytoskeleton reorganization|intracellular signal transduction|protein phosphorylation	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|ovary(1)|pancreas(1)	10		all_cancers(173;0.156)|Prostate(94;0.0792)								1574				0.395556	566.347057	570.645736	178	272	KEEP	---	---	---	---	capture		Silent	SNP	227219083	227219083	3200	1	T	G	G	G	713	55	CDC42BPA	4	4
OBSCN	84033	broad.mit.edu	37	1	228509335	228509335	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228509335G>C	uc009xez.1	+	c.14793G>C	c.(14791-14793)TGG>TGC	p.W4931C	OBSCN_uc001hsn.2_Missense_Mutation_p.W4931C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4931	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.3125	31.3401	32.340616	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228509335	228509335	11217	1	G	C	C	C	546	42	OBSCN	3	3
ACTA1	58	broad.mit.edu	37	1	229568343	229568343	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229568343G>T	uc001htm.2	-	c.414C>A	c.(412-414)ATC>ATA	p.I138I		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	138			I -> M (in NEM3; autosomal recessive).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)									0.320388	92.434263	95.388606	33	70	KEEP	---	---	---	---	capture		Silent	SNP	229568343	229568343	192	1	G	T	T	T	525	41	ACTA1	2	2
NID1	4811	broad.mit.edu	37	1	236192920	236192920	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236192920C>A	uc001hxo.2	-	c.1668G>T	c.(1666-1668)GTG>GTT	p.V556V	NID1_uc009xgd.2_Silent_p.V556V	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	556	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)									0.461538	19.648911	19.665652	6	7	KEEP	---	---	---	---	capture		Silent	SNP	236192920	236192920	10815	1	C	A	A	A	314	25	NID1	2	2
ACTN2	88	broad.mit.edu	37	1	236907995	236907995	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236907995G>T	uc001hyf.2	+	c.1325G>T	c.(1324-1326)CGG>CTG	p.R442L	ACTN2_uc001hyg.2_Missense_Mutation_p.R234L|ACTN2_uc009xgi.1_Missense_Mutation_p.R442L|ACTN2_uc010pxu.1_Missense_Mutation_p.R131L|ACTN2_uc001hyh.2_Missense_Mutation_p.R130L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	442	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.25	76.575744	82.709084	27	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236907995	236907995	206	1	G	T	T	T	507	39	ACTN2	1	1
RYR2	6262	broad.mit.edu	37	1	237713847	237713847	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237713847G>T	uc001hyl.1	+	c.3070G>T	c.(3070-3072)GTA>TTA	p.V1024L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1024	Cytoplasmic (By similarity).|2.|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)											0.234375	42.393642	46.52361	15	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237713847	237713847	14249	1	G	T	T	T	520	40	RYR2	1	1
RYR2	6262	broad.mit.edu	37	1	237951302	237951302	+	Missense_Mutation	SNP	A	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237951302A>C	uc001hyl.1	+	c.13343A>C	c.(13342-13344)GAA>GCA	p.E4448A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4448	Glu-rich (acidic).				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)											0.191176	70.769806	82.888655	26	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237951302	237951302	14249	1	A	C	C	C	117	9	RYR2	4	4
ZP4	57829	broad.mit.edu	37	1	238053457	238053457	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238053457G>T	uc001hym.2	-	c.195C>A	c.(193-195)CAC>CAA	p.H65Q	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	65	Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.276786	93.081489	98.10284	31	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238053457	238053457	18822	1	G	T	T	T	516	40	ZP4	1	1
MYOM3	127294	broad.mit.edu	37	1	24385442	24385442	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24385442G>A	uc001bin.3	-	c.4022C>T	c.(4021-4023)CCG>CTG	p.P1341L	MYOM3_uc001bil.3_Missense_Mutation_p.P234L|MYOM3_uc001bim.3_Missense_Mutation_p.P998L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1341	Ig-like C2-type 4.									ovary(1)	1		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)										0.157895	6.625068	8.735113	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24385442	24385442	10488	1	G	A	A	A	507	39	MYOM3	1	1
NLRP3	114548	broad.mit.edu	37	1	247587961	247587961	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247587961T>C	uc001icr.2	+	c.1216T>C	c.(1216-1218)TTC>CTC	p.F406L	NLRP3_uc001ics.2_Missense_Mutation_p.F406L|NLRP3_uc001icu.2_Missense_Mutation_p.F406L|NLRP3_uc001icw.2_Missense_Mutation_p.F406L|NLRP3_uc001icv.2_Missense_Mutation_p.F406L|NLRP3_uc010pyw.1_Missense_Mutation_p.F404L|NLRP3_uc001ict.1_Missense_Mutation_p.F404L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	406	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.295533	275.633036	286.517045	86	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247587961	247587961	10881	1	T	C	C	C	728	56	NLRP3	4	4
OR13G1	441933	broad.mit.edu	37	1	247835510	247835510	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247835510C>A	uc001idi.1	-	c.834G>T	c.(832-834)GTG>GTT	p.V278V		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.334395	309.658176	317.289121	105	209	KEEP	---	---	---	---	capture		Silent	SNP	247835510	247835510	11348	1	C	A	A	A	366	29	OR13G1	2	2
TRIM58	25893	broad.mit.edu	37	1	248028078	248028078	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248028078G>A	uc001ido.2	+	c.588G>A	c.(586-588)GAG>GAA	p.E196E		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	196	Potential.					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)											0.238095	14.164767	15.480324	5	16	KEEP	---	---	---	---	capture		Silent	SNP	248028078	248028078	17077	1	G	A	A	A	451	35	TRIM58	2	2
OR2L8	391190	broad.mit.edu	37	1	248112202	248112202	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248112202G>T	uc001idt.1	+	c.43G>T	c.(43-45)GGG>TGG	p.G15W	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)											0.32965	538.540558	552.458307	179	364	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248112202	248112202	11415	1	G	T	T	T	559	43	OR2L8	2	2
OR14I1	401994	broad.mit.edu	37	1	248844970	248844970	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248844970C>A	uc001ieu.1	-	c.636G>T	c.(634-636)ATG>ATT	p.M212I		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	212	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.27	74.076592	78.851654	27	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248844970	248844970	11353	1	C	A	A	A	377	29	OR14I1	2	2
OR14I1	401994	broad.mit.edu	37	1	248845065	248845065	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248845065G>A	uc001ieu.1	-	c.541C>T	c.(541-543)CAT>TAT	p.H181Y		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.081081	1.287671	14.523311	6	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248845065	248845065	11353	1	G	A	A	A	585	45	OR14I1	2	2
AHDC1	27245	broad.mit.edu	37	1	27876408	27876408	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27876408C>G	uc009vsy.2	-	c.2219G>C	c.(2218-2220)CGC>CCC	p.R740P	AHDC1_uc009vsz.1_Missense_Mutation_p.R740P	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	740	Gly-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)										0.210526	11.389786	12.862138	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27876408	27876408	415	1	C	G	G	G	351	27	AHDC1	3	3
ADC	113451	broad.mit.edu	37	1	33562427	33562427	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33562427C>T	uc009vug.2	+	c.873C>T	c.(871-873)ATC>ATT	p.I291I	ADC_uc001bwr.2_Silent_p.I291I|ADC_uc001bws.2_Silent_p.I291I|ADC_uc009vue.2_Silent_p.I291I|ADC_uc001bwt.1_Silent_p.I196I|ADC_uc001bwu.2_Silent_p.I196I|ADC_uc001bwv.2_Silent_p.I196I|ADC_uc001bww.2_Silent_p.I196I|ADC_uc001bwx.1_Silent_p.I268I|ADC_uc001bwz.1_Silent_p.I291I|ADC_uc009vuf.1_Silent_p.I133I|ADC_uc001bwy.1_Silent_p.I140I	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	291					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)									0.247525	321.080706	350.414519	125	380	KEEP	---	---	---	---	capture		Silent	SNP	33562427	33562427	288	1	C	T	T	T	369	29	ADC	2	2
EIF2C1	26523	broad.mit.edu	37	1	36381063	36381063	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36381063C>T	uc001bzl.2	+	c.1948C>T	c.(1948-1950)CAA>TAA	p.Q650*	EIF2C1_uc001bzk.2_Nonsense_Mutation_p.Q575*|EIF2C1_uc009vuy.2_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	650	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.230769	72.877553	81.516757	30	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36381063	36381063	5194	1	C	T	T	T	273	21	EIF2C1	5	2
COL8A2	1296	broad.mit.edu	37	1	36563472	36563472	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36563472C>A	uc001bzv.1	-	c.1810G>T	c.(1810-1812)GGC>TGC	p.G604C	COL8A2_uc001bzw.1_Missense_Mutation_p.G539C	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	604	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)												0.538462	24.627301	24.644217	7	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36563472	36563472	3844	1	C	A	A	A	299	23	COL8A2	1	1
RLF	6018	broad.mit.edu	37	1	40705942	40705942	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40705942C>T	uc001cfc.3	+	c.5568C>T	c.(5566-5568)TCC>TCT	p.S1856S	RLF_uc001cfd.3_Silent_p.S1547S	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1856					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription activator activity|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)											0.276243	154.271112	162.428486	50	131	KEEP	---	---	---	---	capture		Silent	SNP	40705942	40705942	13866	1	C	T	T	T	301	24	RLF	2	2
TIE1	7075	broad.mit.edu	37	1	43779579	43779579	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43779579G>T	uc001ciu.2	+	c.2349G>T	c.(2347-2349)CTG>CTT	p.L783L	TIE1_uc010oke.1_Silent_p.L738L|TIE1_uc009vwq.2_Silent_p.L739L|TIE1_uc010okf.1_Silent_p.L428L|TIE1_uc010okg.1_Silent_p.L428L	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	783	Helical; (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				0.209524	54.889466	63.090484	22	83	KEEP	---	---	---	---	capture		Silent	SNP	43779579	43779579	16421	1	G	T	T	T	600	47	TIE1	2	2
ATP6V0B	533	broad.mit.edu	37	1	44441771	44441771	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:44441771G>A	uc001cld.2	+	c.126G>A	c.(124-126)ACG>ACA	p.T42T	ATP6V0B_uc001clc.2_Silent_p.T42T|ATP6V0B_uc001cle.2_5'UTR|ATP6V0B_uc001clf.2_5'UTR	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	42	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)												0.107143	13.978908	31.075385	12	100	KEEP	---	---	---	---	capture		Silent	SNP	44441771	44441771	1190	1	G	A	A	A	496	39	ATP6V0B	1	1
PIK3R3	8503	broad.mit.edu	37	1	46521524	46521524	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:46521524A>G	uc010olw.1	-	c.1022T>C	c.(1021-1023)ATG>ACG	p.M341T	PIK3R3_uc001cpb.3_Missense_Mutation_p.M295T|PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Missense_Mutation_p.M312T|PIK3R3_uc001cpc.3_Missense_Mutation_p.M295T|PIK3R3_uc010olv.1_Missense_Mutation_p.M85T	NM_003629	NP_003620	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3	295					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)													0.121339	43.699675	77.287235	29	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46521524	46521524	12344	1	A	G	G	G	104	8	PIK3R3	4	4
CYP4A11	1579	broad.mit.edu	37	1	47395930	47395930	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47395930G>T	uc001cqp.3	-	c.1417C>A	c.(1417-1419)CTG>ATG	p.L473M		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	473					long-chain fatty acid metabolic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)	2					NADH(DB00157)									0.286859	521.068829	546.496131	179	445	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47395930	47395930	4348	1	G	T	T	T	451	35	CYP4A11	2	2
DAB1	1600	broad.mit.edu	37	1	57611039	57611039	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57611039G>T	uc001cys.1	-	c.131C>A	c.(130-132)GCC>GAC	p.A44D	DAB1_uc001cyt.1_Missense_Mutation_p.A44D|DAB1_uc001cyq.1_Missense_Mutation_p.A44D|DAB1_uc001cyr.1_Missense_Mutation_p.A44D|DAB1_uc009vzw.1_Missense_Mutation_p.A44D|DAB1_uc009vzx.1_Missense_Mutation_p.A44D	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	44	PID.				cell differentiation|nervous system development					ovary(1)	1										395				0.273632	153.732296	163.015239	55	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57611039	57611039	4383	1	G	T	T	T	546	42	DAB1	2	2
DAB1	1600	broad.mit.edu	37	1	57611099	57611099	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57611099T>A	uc001cys.1	-	c.71A>T	c.(70-72)CAG>CTG	p.Q24L	DAB1_uc001cyt.1_Missense_Mutation_p.Q24L|DAB1_uc001cyq.1_Missense_Mutation_p.Q24L|DAB1_uc001cyr.1_Missense_Mutation_p.Q24L|DAB1_uc009vzw.1_Missense_Mutation_p.Q24L|DAB1_uc009vzx.1_Missense_Mutation_p.Q24L	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	24					cell differentiation|nervous system development					ovary(1)	1										395				0.241573	122.529281	133.37878	43	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57611099	57611099	4383	1	T	A	A	A	715	55	DAB1	3	3
DOCK7	85440	broad.mit.edu	37	1	63084481	63084481	+	Silent	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:63084481C>G	uc001daq.2	-	c.1578G>C	c.(1576-1578)CCG>CCC	p.P526P	DOCK7_uc001dan.2_Silent_p.P418P|DOCK7_uc001dao.2_Silent_p.P418P|DOCK7_uc001dap.2_Silent_p.P526P|DOCK7_uc009wah.1_Silent_p.P526P	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	526					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.239782	249.412249	272.097256	88	279	KEEP	---	---	---	---	capture		Silent	SNP	63084481	63084481	4876	1	C	G	G	G	288	23	DOCK7	3	3
LEPR	3953	broad.mit.edu	37	1	66083707	66083707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:66083707G>A	uc001dci.2	+	c.2273G>A	c.(2272-2274)TGG>TAG	p.W758*	LEPR_uc001dcg.2_Nonsense_Mutation_p.W758*|LEPR_uc001dch.2_Nonsense_Mutation_p.W758*|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Nonsense_Mutation_p.W758*|LEPR_uc001dck.2_Nonsense_Mutation_p.W758*	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	758	Extracellular (Potential).|Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity				0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)										0.312821	187.000729	193.083873	61	134	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	66083707	66083707	9052	1	G	A	A	A	611	47	LEPR	5	2
DNAJC11	55735	broad.mit.edu	37	1	6706000	6706000	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6706000C>T	uc001aof.2	-	c.743G>A	c.(742-744)CGT>CAT	p.R248H	DNAJC11_uc010nzt.1_Missense_Mutation_p.R210H|DNAJC11_uc001aog.2_Missense_Mutation_p.R248H|DNAJC11_uc010nzu.1_Missense_Mutation_p.R158H	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	248					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)										0.21883	223.34636	251.965972	86	307	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6706000	6706000	4813	1	C	T	T	T	247	19	DNAJC11	1	1
SGIP1	84251	broad.mit.edu	37	1	67108500	67108500	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67108500C>A	uc001dcr.2	+	c.236C>A	c.(235-237)CCT>CAT	p.P79H		NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	79					intracellular protein transport|positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess|vesicle-mediated transport	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3														0.271676	136.533035	144.676391	47	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67108500	67108500	14697	1	C	A	A	A	312	24	SGIP1	2	2
TCTEX1D1	200132	broad.mit.edu	37	1	67243129	67243129	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67243129C>A	uc001dcv.2	+	c.532C>A	c.(532-534)CTT>ATT	p.L178I	TCTEX1D1_uc009wau.2_Non-coding_Transcript|TCTEX1D1_uc009wav.2_Non-coding_Transcript	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	178											0														0.278539	175.275584	184.94025	61	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67243129	67243129	16245	1	C	A	A	A	312	24	TCTEX1D1	2	2
TNNI3K	51086	broad.mit.edu	37	1	74902192	74902192	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:74902192C>T	uc001dge.1	+	c.2163C>T	c.(2161-2163)AAC>AAT	p.N721N	TNNI3K_uc001dgd.2_Silent_p.N721N|TNNI3K_uc001dgf.1_Silent_p.N620N	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform a	620	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10										765				0.211111	45.171359	52.120703	19	71	KEEP	---	---	---	---	capture		Silent	SNP	74902192	74902192	16870	1	C	T	T	T	220	17	TNNI3K	2	2
CAMTA1	23261	broad.mit.edu	37	1	7805036	7805036	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7805036A>G	uc001aoi.2	+	c.4324A>G	c.(4324-4326)AGT>GGT	p.S1442G	CAMTA1_uc010nzv.1_Missense_Mutation_p.S529G|CAMTA1_uc001aok.3_Missense_Mutation_p.S485G|CAMTA1_uc001aoj.2_Missense_Mutation_p.S398G|CAMTA1_uc009vmf.2_Missense_Mutation_p.S46G	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding|transcription regulator activity			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)										0.240741	109.841591	119.778587	39	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7805036	7805036	2730	1	A	G	G	G	91	7	CAMTA1	4	4
PTGFR	5737	broad.mit.edu	37	1	78958693	78958693	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78958693G>T	uc001din.2	+	c.265G>T	c.(265-267)GTA>TTA	p.V89L	PTGFR_uc001dim.2_Missense_Mutation_p.V89L	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	89	Helical; Name=2; (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)	3				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)									0.034247	-47.220654	21.760101	10	282	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78958693	78958693	13204	1	G	T	T	T	468	36	PTGFR	2	2
LPHN2	23266	broad.mit.edu	37	1	82447508	82447508	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:82447508G>T	uc001dit.3	+	c.3079G>T	c.(3079-3081)GCT>TCT	p.A1027S	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A1027S|LPHN2_uc001div.2_Missense_Mutation_p.A1027S|LPHN2_uc009wcd.2_Missense_Mutation_p.A1027S|LPHN2_uc001diw.2_Missense_Mutation_p.A611S|LPHN2_uc009wce.1_Missense_Mutation_p.A128S	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	1040	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)										0.268683	448.378541	475.515247	151	411	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82447508	82447508	9289	1	G	T	T	T	494	38	LPHN2	1	1
C1orf52	148423	broad.mit.edu	37	1	85725280	85725280	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:85725280C>A	uc001dkv.2	-	c.37G>T	c.(37-39)GCG>TCG	p.A13S	C1orf52_uc001dkw.2_Non-coding_Transcript|C1orf52_uc001dkx.3_Non-coding_Transcript|C1orf52_uc009wcn.2_Missense_Mutation_p.A13S	NM_198077	NP_932343	Q8N6N3	CA052_HUMAN	hypothetical protein LOC148423	13										ovary(1)	1				all cancers(265;0.0105)|Epithelial(280;0.0293)								OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.6	10.325953	10.369645	3	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85725280	85725280	2118	1	C	A	A	A	325	25	C1orf52	2	2
GBP1	2633	broad.mit.edu	37	1	89523826	89523826	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89523826G>A	uc001dmx.2	-	c.723C>T	c.(721-723)CCC>CCT	p.P241P		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	241					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)										0.261993	204.704223	218.592612	71	200	KEEP	---	---	---	---	capture		Silent	SNP	89523826	89523826	6539	1	G	A	A	A	496	39	GBP1	1	1
LRRC8D	55144	broad.mit.edu	37	1	90399760	90399760	+	Missense_Mutation	SNP	T	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:90399760T>G	uc001dnm.2	+	c.1133T>G	c.(1132-1134)TTT>TGT	p.F378C	LRRC8D_uc001dnn.2_Missense_Mutation_p.F378C	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	378	Helical; (Potential).					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)										0.128378	76.735116	116.562522	38	258	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90399760	90399760	9400	1	T	G	G	G	832	64	LRRC8D	4	4
ABCA4	24	broad.mit.edu	37	1	94496568	94496568	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:94496568G>T	uc001dqh.2	-	c.4237C>A	c.(4237-4239)CAG>AAG	p.Q1413K		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1413	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|central_nervous_system(2)|breast(1)	7		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)										0.144444	24.773401	35.675129	13	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94496568	94496568	35	1	G	T	T	T	598	46	ABCA4	2	2
LPPR4	9890	broad.mit.edu	37	1	99772348	99772348	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99772348A>T	uc001dse.2	+	c.2074A>T	c.(2074-2076)AGC>TGC	p.S692C	LPPR4_uc010oue.1_Missense_Mutation_p.S634C	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	692							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)										0.21	53.720338	61.501027	21	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99772348	99772348	9300	1	A	T	T	T	195	15	LPPR4	3	3
SEL1L2	80343	broad.mit.edu	37	20	13912364	13912364	+	Silent	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:13912364T>A	uc010gcf.2	-	c.168A>T	c.(166-168)ACA>ACT	p.T56T	SEL1L2_uc002woq.3_5'UTR|SEL1L2_uc010zrl.1_Silent_p.T56T|SEL1L2_uc002wor.2_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	56	Extracellular (Potential).					integral to membrane	binding			ovary(1)	1														0.297297	99.032139	103.109477	33	78	KEEP	---	---	---	---	capture		Silent	SNP	13912364	13912364	14497	20	T	A	A	A	652	51	SEL1L2	3	3
C20orf26	26074	broad.mit.edu	37	20	20269349	20269349	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:20269349A>G	uc002wru.2	+	c.2893A>G	c.(2893-2895)ACC>GCC	p.T965A	C20orf26_uc002wrw.2_Intron	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	965										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)										0.285476	546.571714	571.316251	171	428	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20269349	20269349	2186	20	A	G	G	G	182	14	C20orf26	4	4
NAPB	63908	broad.mit.edu	37	20	23370621	23370621	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23370621G>C	uc002wtb.2	-	c.535C>G	c.(535-537)CTT>GTT	p.L179V	NAPB_uc002wta.2_Missense_Mutation_p.L175V|NAPB_uc002wtc.2_Missense_Mutation_p.L81V|NAPB_uc002wtd.3_Non-coding_Transcript|NAPB_uc010zss.1_Missense_Mutation_p.L62V|NAPB_uc010zst.1_Missense_Mutation_p.L136V	NM_022080	NP_071363	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment	175					intracellular protein transport|vesicle-mediated transport	membrane				ovary(1)	1	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)													0.168831	129.227976	161.19257	52	256	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23370621	23370621	10558	20	G	C	C	C	442	34	NAPB	3	3
AHCY	191	broad.mit.edu	37	20	32878562	32878562	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:32878562G>A	uc002xai.2	-	c.741C>T	c.(739-741)ATC>ATT	p.I247I	AHCY_uc002xaj.2_Silent_p.I219I	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	247					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0														0.32	160.026758	165.070695	56	119	KEEP	---	---	---	---	capture		Silent	SNP	32878562	32878562	412	20	G	A	A	A	577	45	AHCY	2	2
PLCG1	5335	broad.mit.edu	37	20	39801184	39801184	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39801184G>T	uc002xjo.1	+	c.3029G>T	c.(3028-3030)CGC>CTC	p.R1010L	PLCG1_uc002xjp.1_Missense_Mutation_p.R1010L|PLCG1_uc010zwe.1_Missense_Mutation_p.R636L	NM_002660	NP_002651	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform a	1010	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(3)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.00878)								429				0.184783	38.425092	46.993791	17	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39801184	39801184	12461	20	G	T	T	T	494	38	PLCG1	1	1
LPIN3	64900	broad.mit.edu	37	20	39985681	39985681	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39985681G>T	uc010ggh.2	+	c.1808G>T	c.(1807-1809)CGG>CTG	p.R603L	LPIN3_uc002xjx.2_Missense_Mutation_p.R602L|LPIN3_uc010zwf.1_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	602	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)												0.268293	32.306891	34.293662	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39985681	39985681	9293	20	G	T	T	T	507	39	LPIN3	1	1
SGK2	10110	broad.mit.edu	37	20	42199282	42199282	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42199282G>A	uc002xkv.2	+	c.566G>A	c.(565-567)CGC>CAC	p.R189H	SGK2_uc002xkt.2_Non-coding_Transcript|SGK2_uc002xkr.2_Missense_Mutation_p.R129H|SGK2_uc010ggm.2_Missense_Mutation_p.R129H|SGK2_uc002xks.2_Missense_Mutation_p.R128H|SGK2_uc002xku.2_Missense_Mutation_p.R129H	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2 isoform	189	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			lung(2)|breast(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)							234				0.22	26.099226	29.708632	11	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42199282	42199282	14700	20	G	A	A	A	494	38	SGK2	1	1
TOX2	84969	broad.mit.edu	37	20	42635213	42635213	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42635213C>A	uc010ggo.2	+	c.192C>A	c.(190-192)AAC>AAA	p.N64K	TOX2_uc002xle.3_Missense_Mutation_p.N22K|TOX2_uc010ggp.2_Missense_Mutation_p.N22K|TOX2_uc002xlf.3_Missense_Mutation_p.N73K|TOX2_uc002xlg.2_Missense_Mutation_p.N22K	NM_001098797	NP_001092267	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)											0.123288	61.201257	101.729948	36	256	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42635213	42635213	16920	20	C	A	A	A	246	19	TOX2	1	1
NCOA3	8202	broad.mit.edu	37	20	46268485	46268485	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:46268485A>G	uc002xtk.2	+	c.2872A>G	c.(2872-2874)ATT>GTT	p.I958V	NCOA3_uc010ght.1_Missense_Mutation_p.I953V|NCOA3_uc002xtl.2_Missense_Mutation_p.I958V|NCOA3_uc002xtm.2_Missense_Mutation_p.I958V|NCOA3_uc002xtn.2_Missense_Mutation_p.I958V|NCOA3_uc010zyc.1_Missense_Mutation_p.I753V	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	958					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding|transcription regulator activity			ovary(3)|lung(1)|skin(1)	5										361				0.428198	598.56807	600.284741	164	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46268485	46268485	10629	20	A	G	G	G	208	16	NCOA3	4	4
SULF2	55959	broad.mit.edu	37	20	46313275	46313275	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:46313275C>A	uc002xto.2	-	c.788G>T	c.(787-789)CGC>CTC	p.R263L	SULF2_uc002xtr.2_Missense_Mutation_p.R263L|SULF2_uc002xtq.2_Missense_Mutation_p.R263L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	263					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)	5									p.R263L(BEN-Tumor)	709				0.47619	34.250135	34.260394	10	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46313275	46313275	15891	20	C	A	A	A	351	27	SULF2	1	1
PREX1	57580	broad.mit.edu	37	20	47364417	47364417	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47364417C>A	uc002xtw.1	-	c.220G>T	c.(220-222)GCA>TCA	p.A74S		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	74	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)											0.223529	46.679953	52.653052	19	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47364417	47364417	12919	20	C	A	A	A	338	26	PREX1	2	2
SLC9A8	23315	broad.mit.edu	37	20	48504417	48504417	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:48504417G>T	uc002xuv.1	+	c.1690G>T	c.(1690-1692)GAG>TAG	p.E564*	SLC9A8_uc010zym.1_Nonsense_Mutation_p.E264*|SLC9A8_uc010gid.2_Nonsense_Mutation_p.E188*	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	564						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)											0.429752	161.773413	162.295249	52	69	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48504417	48504417	15217	20	G	T	T	T	481	37	SLC9A8	5	1
KCNG1	3755	broad.mit.edu	37	20	49626742	49626742	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49626742C>A	uc002xwa.3	-	c.134G>T	c.(133-135)CGG>CTG	p.R45L	KCNG1_uc002xwb.2_Missense_Mutation_p.R45L	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	45	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2														0.615385	28.305389	28.458446	8	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49626742	49626742	8332	20	C	A	A	A	299	23	KCNG1	1	1
SALL4	57167	broad.mit.edu	37	20	50407691	50407691	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50407691T>A	uc002xwh.3	-	c.1331A>T	c.(1330-1332)GAG>GTG	p.E444V	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	444					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.473684	89.222282	89.256584	27	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50407691	50407691	14293	20	T	A	A	A	702	54	SALL4	3	3
PROKR2	128674	broad.mit.edu	37	20	5294629	5294629	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5294629G>T	uc010zqw.1	-	c.387C>A	c.(385-387)GCC>GCA	p.A129A	PROKR2_uc010zqx.1_Silent_p.A129A|PROKR2_uc010zqy.1_Silent_p.A129A	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	129	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.326531	48.982901	50.29096	16	33	KEEP	---	---	---	---	capture		Silent	SNP	5294629	5294629	12996	20	G	T	T	T	444	35	PROKR2	2	2
CTCFL	140690	broad.mit.edu	37	20	56078492	56078492	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56078492C>A	uc010giw.1	-	c.1840G>T	c.(1840-1842)GAA>TAA	p.E614*	CTCFL_uc010gix.1_Nonsense_Mutation_p.E614*|CTCFL_uc002xym.2_Nonsense_Mutation_p.E614*|CTCFL_uc010giz.1_Nonsense_Mutation_p.E202*|CTCFL_uc010giy.1_Nonsense_Mutation_p.E284*|CTCFL_uc010gja.1_Nonsense_Mutation_p.E564*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.E614*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.E614*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.E614*|CTCFL_uc010gje.2_Missense_Mutation_p.G614C|CTCFL_uc010gjf.2_Missense_Mutation_p.G409C|CTCFL_uc010gjg.2_Missense_Mutation_p.G346C|CTCFL_uc010giu.2_Non-coding_Transcript|CTCFL_uc010giv.2_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	614					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of gene expression|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|promoter binding|transcription activator activity|zinc ion binding			ovary(2)|large_intestine(1)	3	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)											0.389381	288.151621	290.573863	88	138	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56078492	56078492	4160	20	C	A	A	A	299	23	CTCFL	5	1
CDH26	60437	broad.mit.edu	37	20	58567503	58567503	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58567503G>T	uc002ybe.2	+	c.1354G>T	c.(1354-1356)GAG>TAG	p.E452*	CDH26_uc002ybf.1_Nonsense_Mutation_p.E32*|CDH26_uc010zzy.1_Non-coding_Transcript|CDH26_uc002ybg.2_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	452	Extracellular (Potential).|Cadherin 4.				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)											0.301887	87.755515	91.472537	32	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58567503	58567503	3239	20	G	T	T	T	533	41	CDH26	5	2
KCNQ2	3785	broad.mit.edu	37	20	62044883	62044883	+	Silent	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62044883G>C	uc002yey.1	-	c.1683C>G	c.(1681-1683)CCC>CCG	p.P561P	KCNQ2_uc002yez.1_Silent_p.P530P|KCNQ2_uc002yfa.1_Silent_p.P543P|KCNQ2_uc002yfb.1_Silent_p.P533P	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	561	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)									0.243243	23.454709	25.679551	9	28	KEEP	---	---	---	---	capture		Silent	SNP	62044883	62044883	8388	20	G	C	C	C	444	35	KCNQ2	3	3
KCNQ2	3785	broad.mit.edu	37	20	62073809	62073809	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62073809C>A	uc002yey.1	-	c.766G>T	c.(766-768)GGG>TGG	p.G256W	KCNQ2_uc002yez.1_Missense_Mutation_p.G256W|KCNQ2_uc002yfa.1_Missense_Mutation_p.G256W|KCNQ2_uc002yfb.1_Missense_Mutation_p.G256W|KCNQ2_uc011aax.1_Missense_Mutation_p.G256W|KCNQ2_uc002yfc.1_Missense_Mutation_p.G256W	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	256	Extracellular (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)									0.235294	109.803919	121.789081	44	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62073809	62073809	8388	20	C	A	A	A	286	22	KCNQ2	2	2
NCAM2	4685	broad.mit.edu	37	21	22849675	22849675	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:22849675G>T	uc002yld.1	+	c.1960G>T	c.(1960-1962)GAG>TAG	p.E654*	NCAM2_uc011acb.1_Nonsense_Mutation_p.E512*	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	654	Fibronectin type-III 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)										0.270968	110.702285	118.022333	42	113	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22849675	22849675	10602	21	G	T	T	T	533	41	NCAM2	5	2
MRPL39	54148	broad.mit.edu	37	21	26969716	26969716	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:26969716C>A	uc002yln.2	-	c.599G>T	c.(598-600)CGT>CTT	p.R200L	MRPL39_uc002ylo.2_Missense_Mutation_p.R200L	NM_080794	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform b	200						mitochondrial ribosome	nucleotide binding				0														0.269231	43.328207	45.826119	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26969716	26969716	10195	21	C	A	A	A	247	19	MRPL39	1	1
JAM2	58494	broad.mit.edu	37	21	27062220	27062220	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27062220C>A	uc002ylp.1	+	c.176C>A	c.(175-177)TCC>TAC	p.S59Y	JAM2_uc011ace.1_Missense_Mutation_p.S59Y|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Intron|JAM2_uc010glh.1_Non-coding_Transcript|JAM2_uc002ylr.1_Missense_Mutation_p.S59Y|JAM2_uc010gli.1_Missense_Mutation_p.S59Y	NM_021219	NP_067042	P57087	JAM2_HUMAN	junctional adhesion molecule 2 precursor	59	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction					0														0.297101	113.014308	118.09817	41	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27062220	27062220	8247	21	C	A	A	A	390	30	JAM2	2	2
ADAMTS1	9510	broad.mit.edu	37	21	28209990	28209990	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28209990G>A	uc002ymf.2	-	c.2812C>T	c.(2812-2814)CAT>TAT	p.H938Y		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	938	TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)										0.25	69.197377	75.107804	26	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28209990	28209990	256	21	G	A	A	A	611	47	ADAMTS1	2	2
ADAMTS5	11096	broad.mit.edu	37	21	28296585	28296585	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28296585G>A	uc002ymg.2	-	c.2580C>T	c.(2578-2580)AAC>AAT	p.N860N		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	860	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.266055	166.747962	177.528771	58	160	KEEP	---	---	---	---	capture		Silent	SNP	28296585	28296585	270	21	G	A	A	A	464	36	ADAMTS5	2	2
KRTAP13-1	140258	broad.mit.edu	37	21	31768509	31768509	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31768509C>T	uc002yoa.2	+	c.105C>T	c.(103-105)GTC>GTT	p.V35V		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	35						intermediate filament				ovary(1)	1														0.237237	213.981953	234.973827	79	254	KEEP	---	---	---	---	capture		Silent	SNP	31768509	31768509	8837	21	C	T	T	T	405	32	KRTAP13-1	2	2
TIAM1	7074	broad.mit.edu	37	21	32525054	32525054	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32525054G>A	uc002yow.1	-	c.3266C>T	c.(3265-3267)ACG>ATG	p.T1089M	TIAM1_uc011adk.1_Missense_Mutation_p.T1089M|TIAM1_uc011adl.1_Missense_Mutation_p.T1029M	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1089	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.180451	55.851171	68.593957	24	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32525054	32525054	16418	21	G	A	A	A	520	40	TIAM1	1	1
PCBP3	54039	broad.mit.edu	37	21	47360037	47360037	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47360037G>A	uc002zhq.1	+	c.1003G>A	c.(1003-1005)GGG>AGG	p.G335R	PCBP3_uc002zhp.1_Missense_Mutation_p.G315R|PCBP3_uc002zhs.1_Missense_Mutation_p.G309R|PCBP3_uc002zhr.1_Missense_Mutation_p.G334R|PCBP3_uc002zht.1_Missense_Mutation_p.G325R	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	335	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding				0	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)										0.235294	11.791328	12.880567	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47360037	47360037	11922	21	G	A	A	A	455	35	PCBP3	2	2
KLHL22	84861	broad.mit.edu	37	22	20812279	20812279	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:20812279G>A	uc002zsl.1	-	c.1121C>T	c.(1120-1122)CCA>CTA	p.P374L	KLHL22_uc011ahr.1_Missense_Mutation_p.P231L|KLHL22_uc002zsm.1_Missense_Mutation_p.P374L	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	374	Kelch 2.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	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)											0.26087	18.239125	19.429652	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20812279	20812279	8689	22	G	A	A	A	611	47	KLHL22	2	2
PIWIL3	440822	broad.mit.edu	37	22	25145401	25145401	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:25145401G>A	uc003abd.1	-	c.1304C>T	c.(1303-1305)ACA>ATA	p.T435I	PIWIL3_uc011ajx.1_Missense_Mutation_p.T326I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T326I|PIWIL3_uc010gut.1_Missense_Mutation_p.T435I	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	435					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4														0.268551	216.374061	230.056949	76	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25145401	25145401	12383	22	G	A	A	A	624	48	PIWIL3	2	2
ALG12	79087	broad.mit.edu	37	22	50304192	50304192	+	Missense_Mutation	SNP	C	T	T	rs117687848	by1000genomes	TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50304192C>T	uc003biy.2	-	c.359G>A	c.(358-360)CGG>CAG	p.R120Q		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	120					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,6-mannosyltransferase activity				0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)										0.095238	3.867054	10.773099	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50304192	50304192	517	22	C	T	T	T	299	23	ALG12	1	1
NMS	129521	broad.mit.edu	37	2	101089990	101089990	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101089990C>A	uc002tan.1	+	c.172C>A	c.(172-174)CGC>AGC	p.R58S		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S precursor	58					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1														0.340426	53.186289	54.243842	16	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101089990	101089990	10905	2	C	A	A	A	403	31	NMS	1	1
POLR1B	84172	broad.mit.edu	37	2	113304689	113304689	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113304689G>C	uc010yxn.1	+	c.392G>C	c.(391-393)TGC>TCC	p.C131S	POLR1B_uc002thw.2_Missense_Mutation_p.C93S|POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Missense_Mutation_p.C93S|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_5'UTR|POLR1B_uc010yxo.1_Intron	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	93					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						Ovarian(16;256 576 9537 23969 41147)								0.235955	125.120099	136.424441	42	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113304689	113304689	12638	2	G	C	C	C	598	46	POLR1B	3	3
MARCO	8685	broad.mit.edu	37	2	119727850	119727850	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:119727850C>A	uc002tln.1	+	c.360C>A	c.(358-360)CTC>CTA	p.L120L	MARCO_uc010yyf.1_Silent_p.L42L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	120	Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4						GBM(8;18 374 7467 11269 32796)								0.162896	69.24886	93.127662	36	185	KEEP	---	---	---	---	capture		Silent	SNP	119727850	119727850	9694	2	C	A	A	A	366	29	MARCO	2	2
MARCO	8685	broad.mit.edu	37	2	119749443	119749443	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:119749443G>T	uc002tln.1	+	c.1199G>T	c.(1198-1200)GGA>GTA	p.G400V	MARCO_uc010yyf.1_Missense_Mutation_p.G322V	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	400	Collagen-like.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4						GBM(8;18 374 7467 11269 32796)								0.5	27.573533	27.573533	9	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119749443	119749443	9694	2	G	T	T	T	533	41	MARCO	2	2
CNTNAP5	129684	broad.mit.edu	37	2	125281944	125281944	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125281944G>T	uc010flu.2	+	c.1392G>T	c.(1390-1392)ACG>ACT	p.T464T	CNTNAP5_uc002tno.2_Silent_p.T463T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	463	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.376147	379.736943	384.142979	123	204	KEEP	---	---	---	---	capture		Silent	SNP	125281944	125281944	3788	2	G	T	T	T	483	38	CNTNAP5	1	1
GPR148	344561	broad.mit.edu	37	2	131487640	131487640	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131487640G>T	uc002trv.1	+	c.916G>T	c.(916-918)GAG>TAG	p.E306*		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	306	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Colorectal(110;0.1)													0.146552	29.791633	43.723923	17	99	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	131487640	131487640	6928	2	G	T	T	T	585	45	GPR148	5	2
FAM123C	205147	broad.mit.edu	37	2	131520903	131520903	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131520903G>T	uc002trw.2	+	c.1258G>T	c.(1258-1260)GAC>TAC	p.D420Y	FAM123C_uc010fmv.2_Missense_Mutation_p.D420Y|FAM123C_uc010fms.1_Missense_Mutation_p.D420Y|FAM123C_uc010fmt.1_Missense_Mutation_p.D420Y|FAM123C_uc010fmu.1_Missense_Mutation_p.D420Y	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	420										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)										0.227273	10.960854	12.465425	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131520903	131520903	5621	2	G	T	T	T	533	41	FAM123C	2	2
LRP1B	53353	broad.mit.edu	37	2	140995750	140995750	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:140995750C>A	uc002tvj.1	-	c.13531G>T	c.(13531-13533)GAT>TAT	p.D4511Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4511	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.31768	342.586961	353.289197	115	247	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140995750	140995750	9328	2	C	A	A	A	416	32	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141459809	141459809	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141459809T>C	uc002tvj.1	-	c.6203A>G	c.(6202-6204)GAC>GGC	p.D2068G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2068	Extracellular (Potential).|LDL-receptor class B 22.				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)			0.30137	435.344173	450.768122	132	306	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141459809	141459809	9328	2	T	C	C	C	754	58	LRP1B	4	4
LRP1B	53353	broad.mit.edu	37	2	142567892	142567892	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:142567892C>T	uc002tvj.1	-	c.161G>A	c.(160-162)GGG>GAG	p.G54E	LRP1B_uc010fnl.1_Missense_Mutation_p.G91E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	54	Extracellular (Potential).|LDL-receptor class A 1.				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)			0.150327	43.71588	61.655787	23	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142567892	142567892	9328	2	C	T	T	T	286	22	LRP1B	2	2
ZEB2	9839	broad.mit.edu	37	2	145274897	145274897	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145274897C>A	uc002tvu.2	-	c.21G>T	c.(19-21)GCG>GCT	p.A7A	ZEB2_uc002tvv.2_Silent_p.A2A|ZEB2_uc010zbm.1_Silent_p.A2A|ZEB2_uc010fnp.2_Silent_p.A2A|ZEB2_uc010fnq.1_Silent_p.A36A|ZEB2_uc002tvw.2_Silent_p.A2A|ZEB2_uc002tvx.1_Non-coding_Transcript|ZEB2_uc002tvy.2_Silent_p.A36A|ZEB2_uc002tvz.2_Non-coding_Transcript|ZEB2_uc002twa.2_Non-coding_Transcript	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	7					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.151515	10.955055	14.791003	5	28	KEEP	---	---	---	---	capture		Silent	SNP	145274897	145274897	18212	2	C	A	A	A	288	23	ZEB2	1	1
NEB	4703	broad.mit.edu	37	2	152566225	152566225	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152566225T>A	uc010fnx.2	-	c.980A>T	c.(979-981)CAG>CTG	p.Q327L	NEB_uc010fny.1_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	327	Nebulin 8.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.125	10.014149	16.610719	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152566225	152566225	10701	2	T	A	A	A	715	55	NEB	3	3
NBAS	51594	broad.mit.edu	37	2	15470780	15470780	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15470780T>A	uc002rcc.1	-	c.4289A>T	c.(4288-4290)CAG>CTG	p.Q1430L	NBAS_uc010exl.1_Missense_Mutation_p.Q502L|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1430										ovary(2)|liver(1)	3														0.385906	368.952879	372.354173	115	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15470780	15470780	10582	2	T	A	A	A	715	55	NBAS	3	3
BAZ2B	29994	broad.mit.edu	37	2	160229615	160229615	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160229615C>G	uc002uao.2	-	c.4154G>C	c.(4153-4155)CGG>CCG	p.R1385P	BAZ2B_uc002uap.2_Missense_Mutation_p.R1349P	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.180451	101.831293	127.377031	48	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160229615	160229615	1353	2	C	G	G	G	299	23	BAZ2B	3	3
BAZ2B	29994	broad.mit.edu	37	2	160294973	160294973	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160294973C>A	uc002uao.2	-	c.1134G>T	c.(1132-1134)ACG>ACT	p.T378T	BAZ2B_uc002uap.2_Silent_p.T376T|BAZ2B_uc002uas.1_Silent_p.T315T|BAZ2B_uc002uau.1_Silent_p.T376T|BAZ2B_uc002uaq.1_Silent_p.T306T|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Silent_p.T376T	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.143713	48.484293	68.899377	24	143	KEEP	---	---	---	---	capture		Silent	SNP	160294973	160294973	1353	2	C	A	A	A	288	23	BAZ2B	1	1
LY75	4065	broad.mit.edu	37	2	160741774	160741774	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160741774G>A	uc002ubb.3	-	c.944C>T	c.(943-945)TCC>TTC	p.S315F	LY75_uc010fos.2_Missense_Mutation_p.S315F|LY75_uc002ubc.3_Missense_Mutation_p.S315F|LY75_uc010fot.1_Missense_Mutation_p.S315F	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	315	Extracellular (Potential).|C-type lectin 1.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)										0.267442	132.489692	140.878295	46	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160741774	160741774	9476	2	G	A	A	A	533	41	LY75	2	2
SLC4A10	57282	broad.mit.edu	37	2	162661084	162661084	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162661084G>T	uc002ubx.3	+	c.256G>T	c.(256-258)GGA>TGA	p.G86*	SLC4A10_uc010fpa.1_Nonsense_Mutation_p.G98*|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc002uby.3_Nonsense_Mutation_p.G86*|SLC4A10_uc010zcs.1_Nonsense_Mutation_p.G97*	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	86	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.186916	48.394675	58.17444	20	87	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	162661084	162661084	15148	2	G	T	T	T	611	47	SLC4A10	5	2
SCN2A	6326	broad.mit.edu	37	2	166198918	166198918	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166198918G>T	uc002udc.2	+	c.2501G>T	c.(2500-2502)AGT>ATT	p.S834I	SCN2A_uc002udd.2_Missense_Mutation_p.S834I|SCN2A_uc002ude.2_Missense_Mutation_p.S834I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	834	II.|Helical; Name=S3 of repeat II; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.341837	213.161277	217.495819	67	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166198918	166198918	14398	2	G	T	T	T	468	36	SCN2A	2	2
SCN7A	6332	broad.mit.edu	37	2	167327216	167327216	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167327216C>A	uc002udu.1	-	c.573G>T	c.(571-573)GAG>GAT	p.E191D	SCN7A_uc010fpm.1_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	191	Helical; Name=S3 of repeat I; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.25	24.65704	26.702525	9	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167327216	167327216	14405	2	C	A	A	A	285	22	SCN7A	2	2
B3GALT1	8708	broad.mit.edu	37	2	168726315	168726315	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168726315C>A	uc002udz.1	+	c.766C>A	c.(766-768)CTC>ATC	p.L256I		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	256	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)	3														0.286307	200.770674	210.647001	69	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168726315	168726315	1268	2	C	A	A	A	260	20	B3GALT1	2	2
MYO3B	140469	broad.mit.edu	37	2	171509600	171509600	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171509600C>A	uc002ufy.2	+	c.3995C>A	c.(3994-3996)TCC>TAC	p.S1332Y	MYO3B_uc002ufz.2_Missense_Mutation_p.S1305Y|MYO3B_uc002ufw.2_Non-coding_Transcript|MYO3B_uc002ufx.2_Non-coding_Transcript|MYO3B_uc002ugb.2_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	1332					protein phosphorylation|response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(5)|skin(2)|central_nervous_system(1)	16										1118				0.131455	37.887053	66.1668	28	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171509600	171509600	10472	2	C	A	A	A	390	30	MYO3B	2	2
RBM45	129831	broad.mit.edu	37	2	178977516	178977516	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178977516G>T	uc002ulv.2	+	c.243G>T	c.(241-243)AGG>AGT	p.R81S		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	81	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)											0.322034	56.704547	58.363828	19	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178977516	178977516	13601	2	G	T	T	T	555	43	RBM45	2	2
TTN	7273	broad.mit.edu	37	2	179427841	179427841	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179427841G>A	uc010zfg.1	-	c.75314C>T	c.(75313-75315)CCA>CTA	p.P25105L	TTN_uc010zfh.1_Missense_Mutation_p.P18800L|TTN_uc010zfi.1_Missense_Mutation_p.P18733L|TTN_uc010zfj.1_Missense_Mutation_p.P18608L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2793										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				0.266055	315.490738	337.057205	116	320	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179427841	179427841	17290	2	G	A	A	A	611	47	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179433781	179433781	+	Missense_Mutation	SNP	A	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179433781A>C	uc010zfg.1	-	c.69374T>G	c.(69373-69375)ATT>AGT	p.I23125S	TTN_uc010zfh.1_Missense_Mutation_p.I16820S|TTN_uc010zfi.1_Missense_Mutation_p.I16753S|TTN_uc010zfj.1_Missense_Mutation_p.I16628S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2888										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				0.289062	243.147688	253.356233	74	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179433781	179433781	17290	2	A	C	C	C	52	4	TTN	4	4
TTN	7273	broad.mit.edu	37	2	179452755	179452755	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179452755G>C	uc010zfg.1	-	c.55675C>G	c.(55675-55677)CGC>GGC	p.R18559G	TTN_uc010zfh.1_Missense_Mutation_p.R12254G|TTN_uc010zfi.1_Missense_Mutation_p.R12187G|TTN_uc010zfj.1_Missense_Mutation_p.R12062G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	62										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.R18559C(DV90-Tumor)	8722				0.149425	29.317931	39.571511	13	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179452755	179452755	17290	2	G	C	C	C	520	40	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179565924	179565924	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179565924G>T	uc010zfg.1	-	c.26873C>A	c.(26872-26874)CCT>CAT	p.P8958H	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5619H|TTN_uc010fre.1_Missense_Mutation_p.P69H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3259										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				0.287313	229.66095	240.535903	77	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179565924	179565924	17290	2	G	T	T	T	455	35	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179567349	179567349	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179567349C>A	uc010zfg.1	-	c.26533G>T	c.(26533-26535)GTG>TTG	p.V8845L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V5506L|TTN_uc010fre.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3955										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				0.309859	254.891067	264.040321	88	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179567349	179567349	17290	2	C	A	A	A	234	18	TTN	2	2
ITGA4	3676	broad.mit.edu	37	2	182322938	182322938	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182322938G>A	uc002unu.2	+	c.213G>A	c.(211-213)GCG>GCA	p.A71A	ITGA4_uc002unt.2_Silent_p.A71A|ITGA4_uc010zfl.1_Silent_p.A71A	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	71	FG-GAP 1.|Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)									0.185185	8.957497	11.468987	5	22	KEEP	---	---	---	---	capture		Silent	SNP	182322938	182322938	8182	2	G	A	A	A	483	38	ITGA4	1	1
ZNF804A	91752	broad.mit.edu	37	2	185803686	185803686	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185803686C>A	uc002uph.2	+	c.3563C>A	c.(3562-3564)CCC>CAC	p.P1188H		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1188						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.163636	216.457027	287.416611	108	552	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185803686	185803686	18768	2	C	A	A	A	286	22	ZNF804A	2	2
COL3A1	1281	broad.mit.edu	37	2	189859297	189859297	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189859297G>T	uc002uqj.1	+	c.1324G>T	c.(1324-1326)GAG>TAG	p.E442*		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	442	Triple-helical region.				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				0.248062	86.134532	93.584667	32	97	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	189859297	189859297	3826	2	G	T	T	T	429	33	COL3A1	5	2
COL5A2	1290	broad.mit.edu	37	2	189929366	189929366	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189929366G>T	uc002uqk.2	-	c.1633C>A	c.(1633-1635)CGG>AGG	p.R545R	COL5A2_uc010frx.2_Silent_p.R121R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	545					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.116279	15.686825	28.148314	10	76	KEEP	---	---	---	---	capture		Silent	SNP	189929366	189929366	3835	2	G	T	T	T	519	40	COL5A2	1	1
SF3B1	23451	broad.mit.edu	37	2	198265001	198265001	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198265001G>A	uc002uue.2	-	c.2876C>T	c.(2875-2877)GCT>GTT	p.A959V		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	959					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)											0.294574	115.996076	120.868783	38	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198265001	198265001	14638	2	G	A	A	A	442	34	SF3B1	2	2
SATB2	23314	broad.mit.edu	37	2	200298195	200298195	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200298195C>A	uc002uuy.1	-	c.212G>T	c.(211-213)GGC>GTC	p.G71V	SATB2_uc010fsq.1_Missense_Mutation_p.G71V|SATB2_uc002uuz.1_Missense_Mutation_p.G71V|SATB2_uc002uva.1_Missense_Mutation_p.G71V	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	71						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.286364	173.728989	182.740656	63	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200298195	200298195	14335	2	C	A	A	A	338	26	SATB2	2	2
DYTN	391475	broad.mit.edu	37	2	207528121	207528121	+	Splice_Site_SNP	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207528121T>A	uc002vbr.1	-	c.1141_splice	c.e11-1	p.A381_splice		NM_001093730	NP_001087199			dystrotelin							plasma membrane	zinc ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)										0.333333	73.901251	75.599071	23	46	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	207528121	207528121	5047	2	T	A	A	A	715	55	DYTN	5	3
ACADL	33	broad.mit.edu	37	2	211085421	211085421	+	Silent	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211085421C>G	uc002vdz.3	-	c.183G>C	c.(181-183)CGG>CGC	p.R61R	ACADL_uc010zjg.1_Silent_p.R61R	NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	61					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity				0		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)										0.16	10.283053	13.035053	4	21	KEEP	---	---	---	---	capture		Silent	SNP	211085421	211085421	113	2	C	G	G	G	379	30	ACADL	3	3
ZFAND2B	130617	broad.mit.edu	37	2	220073185	220073185	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220073185G>A	uc002vka.2	+	c.565G>A	c.(565-567)GTG>ATG	p.V189M	ZFAND2B_uc010zkt.1_Missense_Mutation_p.V189M|ZFAND2B_uc010fwd.1_3'UTR|ZFAND2B_uc002vjy.1_Missense_Mutation_p.V189M|ZFAND2B_uc002vjz.1_3'UTR|ZFAND2B_uc002vkb.1_Missense_Mutation_p.V80M	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	189						endoplasmic reticulum	protein binding|zinc ion binding				0		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.161765	22.879045	30.279659	11	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220073185	220073185	18216	2	G	A	A	A	468	36	ZFAND2B	2	2
WDR69	164781	broad.mit.edu	37	2	228771916	228771916	+	Silent	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228771916A>T	uc002vpn.1	+	c.921A>T	c.(919-921)CTA>CTT	p.L307L	WDR69_uc010zlw.1_Silent_p.L292L|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	307	WD 6.									breast(1)	1		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;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)										0.125348	72.815248	122.032672	45	314	KEEP	---	---	---	---	capture		Silent	SNP	228771916	228771916	17892	2	A	T	T	T	184	15	WDR69	3	3
SPHKAP	80309	broad.mit.edu	37	2	228886442	228886442	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228886442C>A	uc002vpq.2	-	c.682G>T	c.(682-684)GAT>TAT	p.D228Y	SPHKAP_uc002vpp.2_Missense_Mutation_p.D228Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.D228Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	228						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)										0.254717	70.070486	75.859619	27	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228886442	228886442	15560	2	C	A	A	A	390	30	SPHKAP	2	2
GPR55	9290	broad.mit.edu	37	2	231775240	231775240	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231775240C>A	uc002vrg.2	-	c.438G>T	c.(436-438)TGG>TGT	p.W146C	GPR55_uc002vrf.2_Non-coding_Transcript|GPR55_uc010fxs.1_Missense_Mutation_p.W146C	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	146	Helical; Name=4; (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)										0.37931	100.352249	101.464749	33	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231775240	231775240	6974	2	C	A	A	A	286	22	GPR55	2	2
C2orf57	165100	broad.mit.edu	37	2	232457748	232457748	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:232457748C>G	uc002vrz.2	+	c.86C>G	c.(85-87)CCA>CGA	p.P29R		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	29										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)										0.144444	21.309497	32.267215	13	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232457748	232457748	2266	2	C	G	G	G	273	21	C2orf57	3	3
CHRNG	1146	broad.mit.edu	37	2	233406159	233406159	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233406159G>A	uc002vsx.1	+	c.426G>A	c.(424-426)CCG>CCA	p.P142P	CHRNG_uc010fyd.2_Silent_p.P142P|CHRNG_uc010fye.1_Intron	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	142	Extracellular (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)										0.192593	51.867761	63.78956	26	109	KEEP	---	---	---	---	capture		Silent	SNP	233406159	233406159	3530	2	G	A	A	A	483	38	CHRNG	1	1
HJURP	55355	broad.mit.edu	37	2	234750371	234750372	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234750371_234750372CC>AA	uc002vvg.2	-	c.1054_1055GG>TT	c.(1054-1056)GGT>TTT	p.G352F	HJURP_uc010znd.1_Missense_Mutation_p.G291F|HJURP_uc010zne.1_Missense_Mutation_p.G260F	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	352					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)										0.1	6.502215	16.09331	6	54	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	234750371	234750372	7480	2	CC	AA	AA	AA	234	18	HJURP	2	2
PER2	8864	broad.mit.edu	37	2	239164502	239164502	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239164502C>A	uc002vyc.2	-	c.2116G>T	c.(2116-2118)GGC>TGC	p.G706C	PER2_uc010znv.1_Missense_Mutation_p.G706C	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	706	CSNK1E binding domain (By similarity).				circadian rhythm|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			breast(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)										0.203125	32.236967	37.475434	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	239164502	239164502	12151	2	C	A	A	A	286	22	PER2	2	2
PER2	8864	broad.mit.edu	37	2	239165693	239165693	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239165693C>A	uc002vyc.2	-	c.1935G>T	c.(1933-1935)ACG>ACT	p.T645T	PER2_uc010znv.1_Silent_p.T645T	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	645	CSNK1E binding domain (By similarity).				circadian rhythm|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			breast(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)								OREG0015336	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.267857	45.002867	47.725438	15	41	KEEP	---	---	---	---	capture		Silent	SNP	239165693	239165693	12151	2	C	A	A	A	288	23	PER2	1	1
FARP2	9855	broad.mit.edu	37	2	242402803	242402803	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242402803G>T	uc002wbi.1	+	c.1731G>T	c.(1729-1731)ACG>ACT	p.T577T	FARP2_uc010zoq.1_Silent_p.T577T|FARP2_uc010zor.1_Silent_p.T577T	NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	577	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)										0.274194	48.946112	51.795551	17	45	KEEP	---	---	---	---	capture		Silent	SNP	242402803	242402803	5913	2	G	T	T	T	483	38	FARP2	1	1
SUPT7L	9913	broad.mit.edu	37	2	27884203	27884203	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27884203C>A	uc002rlh.1	-	c.67G>T	c.(67-69)GAT>TAT	p.D23Y	SUPT7L_uc002rli.1_Missense_Mutation_p.D23Y|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Missense_Mutation_p.D21Y|SUPT7L_uc010ezh.1_Missense_Mutation_p.D21Y|SLC4A1AP_uc002rlk.3_5'Flank	NM_014860	NP_055675	O94864	ST65G_HUMAN	SPTF-associated factor 65 gamma	23					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity				0	Acute lymphoblastic leukemia(172;0.155)													0.426036	209.750819	210.560325	72	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27884203	27884203	15921	2	C	A	A	A	403	31	SUPT7L	1	1
CAPN13	92291	broad.mit.edu	37	2	30955326	30955326	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:30955326C>A	uc002rnn.2	-	c.1905G>T	c.(1903-1905)CTG>CTT	p.L635L	CAPN13_uc002rnm.2_Non-coding_Transcript	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	635					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)													0.369231	71.581451	72.559055	24	41	KEEP	---	---	---	---	capture		Silent	SNP	30955326	30955326	2743	2	C	A	A	A	366	29	CAPN13	2	2
TTC15	51112	broad.mit.edu	37	2	3428348	3428348	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3428348C>T	uc002qxm.1	+	c.1331C>T	c.(1330-1332)GCT>GTT	p.A444V	TTC15_uc002qxn.1_Missense_Mutation_p.A444V|TTC15_uc010ewm.1_Missense_Mutation_p.A444V	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	444							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)										0.354839	66.330284	67.482542	22	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3428348	3428348	17236	2	C	T	T	T	364	28	TTC15	2	2
PLEKHH2	130271	broad.mit.edu	37	2	43980795	43980795	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:43980795A>G	uc010yny.1	+	c.3691A>G	c.(3691-3693)AGA>GGA	p.R1231G		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1231	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.158824	66.717824	85.57025	27	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43980795	43980795	12503	2	A	G	G	G	192	15	PLEKHH2	4	4
EPAS1	2034	broad.mit.edu	37	2	46611777	46611777	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:46611777G>T	uc002ruv.2	+	c.2591G>T	c.(2590-2592)AGA>ATA	p.R864I	EPAS1_uc002ruw.2_Missense_Mutation_p.R330I	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	864	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)											0.242424	18.982233	20.979701	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46611777	46611777	5343	2	G	T	T	T	429	33	EPAS1	2	2
CCDC88A	55704	broad.mit.edu	37	2	55549736	55549736	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55549736C>A	uc002ryv.2	-	c.3087G>T	c.(3085-3087)TGG>TGT	p.W1029C	CCDC88A_uc010yoz.1_Missense_Mutation_p.W1030C|CCDC88A_uc010ypa.1_Missense_Mutation_p.W1029C|CCDC88A_uc002ryu.2_Missense_Mutation_p.W312C|CCDC88A_uc002rys.2_Missense_Mutation_p.W15C|CCDC88A_uc002ryw.2_Missense_Mutation_p.W313C|CCDC88A_uc010fby.1_Intron	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1030	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)	2														0.567376	832.353968	834.025429	240	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55549736	55549736	2988	2	C	A	A	A	286	22	CCDC88A	2	2
BCL11A	53335	broad.mit.edu	37	2	60773198	60773198	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:60773198G>T	uc002sae.1	-	c.293C>A	c.(292-294)CCC>CAC	p.P98H	BCL11A_uc002sab.2_Missense_Mutation_p.P98H|BCL11A_uc002sac.2_Missense_Mutation_p.P98H|BCL11A_uc010ypi.1_5'UTR|BCL11A_uc010ypj.1_Missense_Mutation_p.P98H|BCL11A_uc002saf.1_Missense_Mutation_p.P98H|BCL11A_uc010fcg.2_Missense_Mutation_p.P98H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	98	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)							131				0.310345	82.297361	85.082282	27	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60773198	60773198	1384	2	G	T	T	T	559	43	BCL11A	2	2
DYSF	8291	broad.mit.edu	37	2	71827833	71827833	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71827833G>T	uc010fen.2	+	c.3758G>T	c.(3757-3759)GGT>GTT	p.G1253V	DYSF_uc010feg.2_Missense_Mutation_p.G1266V|DYSF_uc010feh.2_Missense_Mutation_p.G1221V|DYSF_uc002sig.3_Missense_Mutation_p.G1221V|DYSF_uc010yqx.1_Non-coding_Transcript|DYSF_uc010fee.2_Missense_Mutation_p.G1235V|DYSF_uc010fef.2_Missense_Mutation_p.G1252V|DYSF_uc002sie.2_Missense_Mutation_p.G1235V|DYSF_uc010fei.2_Missense_Mutation_p.G1252V|DYSF_uc010fek.2_Missense_Mutation_p.G1253V|DYSF_uc010fej.2_Missense_Mutation_p.G1222V|DYSF_uc010fel.2_Missense_Mutation_p.G1222V|DYSF_uc010feo.2_Missense_Mutation_p.G1267V|DYSF_uc010fem.2_Missense_Mutation_p.G1236V|DYSF_uc002sif.2_Missense_Mutation_p.G1236V|DYSF_uc010yqy.1_Missense_Mutation_p.G116V|DYSF_uc010yqz.1_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	dysferlin isoform 1	1235	Cytoplasmic (Potential).|C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.270677	100.340625	106.649426	36	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71827833	71827833	5045	2	G	T	T	T	572	44	DYSF	2	2
LRRTM4	80059	broad.mit.edu	37	2	77745991	77745991	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:77745991C>A	uc002snr.2	-	c.1004G>T	c.(1003-1005)AGC>ATC	p.S335I	LRRTM4_uc002snq.2_Missense_Mutation_p.S335I|LRRTM4_uc002sns.2_Missense_Mutation_p.S335I|LRRTM4_uc002snt.2_Missense_Mutation_p.S336I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	335	LRRCT.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.121212	5.174534	9.816941	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77745991	77745991	9418	2	C	A	A	A	364	28	LRRTM4	2	2
ATOH8	84913	broad.mit.edu	37	2	85991289	85991289	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85991289G>C	uc002sqm.3	+	c.944G>C	c.(943-945)CGT>CCT	p.R315P	ATOH8_uc002sqn.2_Missense_Mutation_p.R315P	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	atonal homolog 8	315					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity				0														0.107527	15.181113	29.387763	10	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85991289	85991289	1133	2	G	C	C	C	520	40	ATOH8	3	3
CD8A	925	broad.mit.edu	37	2	87017643	87017643	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:87017643G>C	uc010ytn.1	-	c.334C>G	c.(334-336)CTA>GTA	p.L112V	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.L71V|CD8A_uc002srt.2_Missense_Mutation_p.L71V|CD8A_uc002sru.2_Missense_Mutation_p.L71V	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	71	Ig-like V-type.|Extracellular (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1														0.323529	29.111111	30.052135	11	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87017643	87017643	3172	2	G	C	C	C	451	35	CD8A	3	3
TBC1D23	55773	broad.mit.edu	37	3	100002603	100002603	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100002603C>A	uc003dtt.2	+	c.424C>A	c.(424-426)CGC>AGC	p.R142S	TBC1D23_uc003dts.2_Missense_Mutation_p.R142S	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	142	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2														0.229839	163.25464	179.840386	57	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100002603	100002603	16135	3	C	A	A	A	247	19	TBC1D23	1	1
ALCAM	214	broad.mit.edu	37	3	105271017	105271017	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:105271017G>C	uc003dvx.2	+	c.1537G>C	c.(1537-1539)GAG>CAG	p.E513Q	ALCAM_uc003dvw.1_Missense_Mutation_p.E513Q|ALCAM_uc003dvy.2_Intron|ALCAM_uc010hpp.2_Missense_Mutation_p.E235Q|ALCAM_uc003dvz.2_Missense_Mutation_p.E147Q	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	513	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3														0.269231	66.140703	69.888669	21	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105271017	105271017	490	3	G	C	C	C	481	37	ALCAM	3	3
PLCXD2	257068	broad.mit.edu	37	3	111432892	111432892	+	Missense_Mutation	SNP	T	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111432892T>G	uc003dyb.2	+	c.783T>G	c.(781-783)CAT>CAG	p.H261Q	PLCXD2_uc003dya.2_Missense_Mutation_p.H261Q|PLCXD2_uc003dxz.2_Missense_Mutation_p.H261Q	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X	261					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity				0														0.233577	93.03203	101.929671	32	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111432892	111432892	12468	3	T	G	G	G	660	51	PLCXD2	4	4
SLC9A10	285335	broad.mit.edu	37	3	111870801	111870801	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111870801G>T	uc003dyu.2	-	c.3427C>A	c.(3427-3429)CAC>AAC	p.H1143N	SLC9A10_uc011bhu.1_Missense_Mutation_p.H406N|SLC9A10_uc010hqc.2_Missense_Mutation_p.H1095N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	1143					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5														0.233333	135.062261	148.73376	49	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111870801	111870801	15207	3	G	T	T	T	624	48	SLC9A10	2	2
FSTL1	11167	broad.mit.edu	37	3	120129820	120129820	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120129820C>T	uc003eds.2	-	c.310G>A	c.(310-312)GTA>ATA	p.V104I	FSTL1_uc011bjh.1_Missense_Mutation_p.V69I|FSTL1_uc010hrb.2_Missense_Mutation_p.V104I	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	104					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)										0.051095	-12.686408	16.54249	7	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120129820	120129820	6328	3	C	T	T	T	247	19	FSTL1	1	1
SEMA5B	54437	broad.mit.edu	37	3	122631817	122631817	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122631817G>T	uc003efz.1	-	c.2598C>A	c.(2596-2598)TCC>TCA	p.S866S	SEMA5B_uc011bju.1_Silent_p.S808S|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.S866S|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	866	Extracellular (Potential).|TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)						383				0.545455	20.451206	20.471009	6	5	KEEP	---	---	---	---	capture		Silent	SNP	122631817	122631817	14524	3	G	T	T	T	548	43	SEMA5B	2	2
MUC13	56667	broad.mit.edu	37	3	124646418	124646418	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124646418C>A	uc003ehq.1	-	c.472G>T	c.(472-474)GGC>TGC	p.G158C		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, epithelial transmembrane	158	Thr-rich.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0														0.253012	297.170804	320.158161	105	310	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124646418	124646418	10365	3	C	A	A	A	273	21	MUC13	2	2
ZXDC	79364	broad.mit.edu	37	3	126180702	126180702	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126180702C>A	uc003eiv.2	-	c.1803G>T	c.(1801-1803)GTG>GTT	p.V601V	ZXDC_uc010hsh.2_Non-coding_Transcript|ZXDC_uc003eix.2_Silent_p.V601V	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	601	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)										0.253623	92.817478	100.460342	35	103	KEEP	---	---	---	---	capture		Silent	SNP	126180702	126180702	18857	3	C	A	A	A	314	25	ZXDC	2	2
UROC1	131669	broad.mit.edu	37	3	126224636	126224636	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126224636C>T	uc010hsi.1	-	c.721G>A	c.(721-723)GGG>AGG	p.G241R	UROC1_uc003eiz.1_Missense_Mutation_p.G241R	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	241					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)										0.285714	48.421178	51.018859	18	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126224636	126224636	17590	3	C	T	T	T	273	21	UROC1	2	2
COL6A6	131873	broad.mit.edu	37	3	130313158	130313158	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130313158C>A	uc010htl.2	+	c.4504C>A	c.(4504-4506)CGT>AGT	p.R1502S	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1502	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.235507	182.433022	200.088691	65	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130313158	130313158	3841	3	C	A	A	A	299	23	COL6A6	1	1
PIK3R4	30849	broad.mit.edu	37	3	130425910	130425910	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130425910G>A	uc003enj.2	-	c.2603C>T	c.(2602-2604)CCA>CTA	p.P868L		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	868					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|protein phosphorylation	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|kidney(1)|breast(1)|central_nervous_system(1)	6										587				0.262222	160.422765	171.931553	59	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130425910	130425910	12345	3	G	A	A	A	611	47	PIK3R4	2	2
CEP63	80254	broad.mit.edu	37	3	134278166	134278166	+	Silent	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134278166T>C	uc003eqo.1	+	c.1848T>C	c.(1846-1848)TCT>TCC	p.S616S	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	616					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1														0.289796	454.009523	473.443227	142	348	KEEP	---	---	---	---	capture		Silent	SNP	134278166	134278166	3390	3	T	C	C	C	691	54	CEP63	4	4
PCOLCE2	26577	broad.mit.edu	37	3	142537297	142537297	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142537297G>T	uc003evd.2	-	c.1128C>A	c.(1126-1128)TAC>TAA	p.Y376*		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	376	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)	2														0.202166	145.634573	168.465377	56	221	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	142537297	142537297	12015	3	G	T	T	T	620	48	PCOLCE2	5	2
SR140	23350	broad.mit.edu	37	3	142747463	142747463	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142747463A>T	uc003evh.1	+	c.1585A>T	c.(1585-1587)AGT>TGT	p.S529C	SR140_uc003evi.1_Missense_Mutation_p.S120C|SR140_uc003evj.1_Non-coding_Transcript|SR140_uc003evk.1_Missense_Mutation_p.S528C|SR140_uc003evl.1_Missense_Mutation_p.S96C	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	529					RNA processing	nucleus	nucleotide binding|RNA binding				0						Colon(87;897 1320 15089 19747 35974)								0.28	104.271998	109.710798	35	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142747463	142747463	15645	3	A	T	T	T	195	15	SR140	3	3
HPS3	84343	broad.mit.edu	37	3	148863150	148863150	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148863150C>G	uc003ewu.1	+	c.980C>G	c.(979-981)ACA>AGA	p.T327R	HPS3_uc003ewt.1_Missense_Mutation_p.T327R|HPS3_uc011bnq.1_Missense_Mutation_p.T162R	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	327						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)											0.19403	72.770244	84.473876	26	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148863150	148863150	7632	3	C	G	G	G	221	17	HPS3	3	3
MED12L	116931	broad.mit.edu	37	3	151134112	151134112	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151134112C>T	uc003eyp.2	+	c.6205C>T	c.(6205-6207)CAG>TAG	p.Q2069*	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	2069	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)							59				0.235294	32.072757	35.341711	12	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	151134112	151134112	9818	3	C	T	T	T	273	21	MED12L	5	2
ZBBX	79740	broad.mit.edu	37	3	167031857	167031857	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167031857C>A	uc011bpc.1	-	c.1322G>T	c.(1321-1323)GGC>GTC	p.G441V	ZBBX_uc003fep.2_Missense_Mutation_p.G441V|ZBBX_uc003feq.2_Missense_Mutation_p.G412V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	441						intracellular	zinc ion binding			ovary(2)	2														0.265403	154.798529	165.29581	56	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167031857	167031857	18100	3	C	A	A	A	338	26	ZBBX	2	2
TBC1D5	9779	broad.mit.edu	37	3	17208408	17208408	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17208408G>T	uc010hev.2	-	c.2011C>A	c.(2011-2013)CTA>ATA	p.L671I	TBC1D5_uc010heu.2_Missense_Mutation_p.L236I|TBC1D5_uc003cbf.2_Missense_Mutation_p.L649I|TBC1D5_uc003cbe.2_Missense_Mutation_p.L649I	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform a	649						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1														0.357143	43.812361	44.567752	15	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17208408	17208408	16149	3	G	T	T	T	425	33	TBC1D5	2	2
GHSR	2693	broad.mit.edu	37	3	172163026	172163026	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172163026G>T	uc003fib.1	-	c.1026C>A	c.(1024-1026)CCC>CCA	p.P342P		NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	342	Cytoplasmic (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			Esophageal Squamous(93;641 1401 20883 29581 34638)								0.261261	81.88419	87.571707	29	82	KEEP	---	---	---	---	capture		Silent	SNP	172163026	172163026	6643	3	G	T	T	T	444	35	GHSR	2	2
NLGN1	22871	broad.mit.edu	37	3	173525608	173525608	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:173525608G>T	uc003fio.1	+	c.632G>T	c.(631-633)CGA>CTA	p.R211L	NLGN1_uc010hww.1_Missense_Mutation_p.R251L|NLGN1_uc003fip.1_Missense_Mutation_p.R211L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	228	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of excitatory postsynaptic membrane potential|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of synaptic transmission|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	carboxylesterase activity|cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)											0.259459	132.712144	142.407519	48	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173525608	173525608	10864	3	G	T	T	T	481	37	NLGN1	1	1
KLHL6	89857	broad.mit.edu	37	3	183225911	183225911	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183225911C>A	uc003flr.2	-	c.845G>T	c.(844-846)AGG>ATG	p.R282M	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.R280M	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	282										ovary(1)	1	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)											0.271478	223.792675	237.497472	79	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183225911	183225911	8707	3	C	A	A	A	312	24	KLHL6	2	2
CHRD	8646	broad.mit.edu	37	3	184104632	184104632	+	Splice_Site_SNP	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184104632G>T	uc003fov.2	+	c.2197_splice	c.e17-1	p.R733_splice	CHRD_uc003fow.2_Splice_Site_SNP_p.R363_splice|CHRD_uc003fox.2_Splice_Site_SNP_p.R733_splice|CHRD_uc003foy.2_Splice_Site_SNP_p.R363_splice|CHRD_uc010hyc.2_Splice_Site_SNP_p.R323_splice|CHRD_uc011brr.1_Splice_Site_SNP_p.R275_splice	NM_003741	NP_003732			chordin precursor						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.326531	46.282042	47.590563	16	33	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	184104632	184104632	3506	3	G	T	T	T	429	33	CHRD	5	2
MAGEF1	64110	broad.mit.edu	37	3	184429233	184429233	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184429233C>A	uc003fpa.2	-	c.377G>T	c.(376-378)CGG>CTG	p.R126L		NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	126	MAGE.									ovary(1)	1	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)											0.281879	125.789123	132.156847	42	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184429233	184429233	9570	3	C	A	A	A	299	23	MAGEF1	1	1
DGKG	1608	broad.mit.edu	37	3	185986600	185986600	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:185986600C>G	uc003fqa.2	-	c.1106G>C	c.(1105-1107)TGC>TCC	p.C369S	DGKG_uc003fqb.2_Intron|DGKG_uc003fqc.2_Missense_Mutation_p.C369S|DGKG_uc011brx.1_Intron	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	369	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|central_nervous_system(1)|skin(1)	4	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)					546				0.362319	85.957763	87.108247	25	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185986600	185986600	4648	3	C	G	G	G	325	25	DGKG	3	3
RTP2	344892	broad.mit.edu	37	3	187416442	187416442	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:187416442C>T	uc003fro.1	-	c.522G>A	c.(520-522)GAG>GAA	p.E174E		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	174	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)										0.176471	25.254241	31.966289	12	56	KEEP	---	---	---	---	capture		Silent	SNP	187416442	187416442	14214	3	C	T	T	T	311	24	RTP2	2	2
TPRG1	285386	broad.mit.edu	37	3	188925302	188925302	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:188925302G>T	uc003frv.1	+	c.129G>T	c.(127-129)AGG>AGT	p.R43S	TPRG1_uc003frw.1_Missense_Mutation_p.R43S	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	43											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)										0.25323	262.654673	284.055909	98	289	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188925302	188925302	16962	3	G	T	T	T	542	42	TPRG1	2	2
CHL1	10752	broad.mit.edu	37	3	382518	382518	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:382518G>T	uc003bot.2	+	c.427G>T	c.(427-429)GTG>TTG	p.V143L	CHL1_uc003bou.2_Missense_Mutation_p.V143L|CHL1_uc003bow.1_Missense_Mutation_p.V143L|CHL1_uc011asi.1_Missense_Mutation_p.V143L	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	143	Ig-like C2-type 2.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				central_nervous_system(4)|large_intestine(2)|ovary(1)	7		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)						659				0.375	56.637479	57.296239	18	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	382518	382518	3483	3	G	T	T	T	468	36	CHL1	2	2
TRAK1	22906	broad.mit.edu	37	3	42166916	42166916	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42166916G>T	uc003cky.2	+	c.96G>T	c.(94-96)GTG>GTT	p.V32V	TRAK1_uc011azh.1_Silent_p.V32V|TRAK1_uc011azi.1_Silent_p.V32V	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	32					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.313131	94.888673	97.965784	31	68	KEEP	---	---	---	---	capture		Silent	SNP	42166916	42166916	16993	3	G	T	T	T	613	48	TRAK1	2	2
CCDC13	152206	broad.mit.edu	37	3	42799619	42799619	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42799619C>A	uc003cly.3	-	c.219G>T	c.(217-219)AAG>AAT	p.K73N	CCDC13_uc003clz.2_Missense_Mutation_p.K73N|CCDC13_uc011azq.1_Missense_Mutation_p.K73N	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	73	Potential.									ovary(1)	1														0.450704	96.988997	97.139663	32	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42799619	42799619	2885	3	C	A	A	A	415	32	CCDC13	2	2
ITPR1	3708	broad.mit.edu	37	3	4718485	4718485	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:4718485G>T	uc003bqa.2	+	c.2940G>T	c.(2938-2940)CAG>CAT	p.Q980H	ITPR1_uc010hca.1_Missense_Mutation_p.Q965H|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.Q974H	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	989	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			ovary(4)|breast(2)|large_intestine(1)|kidney(1)|liver(1)|skin(1)|pancreas(1)	11				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)						2114				0.433735	116.589505	116.906989	36	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4718485	4718485	8224	3	G	T	T	T	451	35	ITPR1	2	2
DHX30	22907	broad.mit.edu	37	3	47882439	47882439	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47882439G>T	uc003cru.2	+	c.439G>T	c.(439-441)GGC>TGC	p.G147C	DHX30_uc003crs.2_Missense_Mutation_p.G108C|DHX30_uc003crt.2_Missense_Mutation_p.G108C|DHX30_uc010hjr.1_Missense_Mutation_p.G175C	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	147						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)										0.461538	19.048452	19.065234	6	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47882439	47882439	4683	3	G	T	T	T	611	47	DHX30	2	2
GBE1	2632	broad.mit.edu	37	3	81586172	81586172	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:81586172G>A	uc003dqg.2	-	c.1693C>T	c.(1693-1695)CGG>TGG	p.R565W	GBE1_uc011bgm.1_Missense_Mutation_p.R524W	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	565					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)										0.527473	153.000803	153.060221	48	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81586172	81586172	6536	3	G	A	A	A	493	38	GBE1	1	1
EPHA3	2042	broad.mit.edu	37	3	89480412	89480412	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89480412G>T	uc003dqy.2	+	c.2249G>T	c.(2248-2250)CGG>CTG	p.R750L	EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	750	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.383838	126.929794	128.100113	38	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89480412	89480412	5361	3	G	T	T	T	507	39	EPHA3	1	1
OR5H1	26341	broad.mit.edu	37	3	97851886	97851886	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97851886G>T	uc011bgt.1	+	c.345G>T	c.(343-345)TTG>TTT	p.L115F		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.257333	540.900125	580.946907	193	557	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97851886	97851886	11569	3	G	T	T	T	607	47	OR5H1	2	2
ST3GAL6	10402	broad.mit.edu	37	3	98503797	98503797	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98503797G>T	uc010hpd.2	+	c.503G>T	c.(502-504)TGT>TTT	p.C168F	ST3GAL6_uc003dsy.2_Missense_Mutation_p.C29F|ST3GAL6_uc003dsz.2_Missense_Mutation_p.C115F|ST3GAL6_uc003dta.2_Intron|ST3GAL6_uc003dtb.2_5'UTR|ST3GAL6_uc003dtc.2_Missense_Mutation_p.C115F	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	115	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1														0.206061	88.152341	101.372025	34	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98503797	98503797	15737	3	G	T	T	T	624	48	ST3GAL6	2	2
ADH1B	125	broad.mit.edu	37	4	100235229	100235229	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100235229C>A	uc003hus.3	-	c.577G>T	c.(577-579)GGC>TGC	p.G193C	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.G153C|ADH1B_uc011ceh.1_Missense_Mutation_p.G38C|ADH1B_uc011cei.1_Missense_Mutation_p.G153C	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	193					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)									0.322245	461.951919	475.449818	155	326	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100235229	100235229	309	4	C	A	A	A	312	24	ADH1B	2	2
SLC2A9	56606	broad.mit.edu	37	4	10027563	10027563	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:10027563C>A	uc003gmd.2	-	c.28G>T	c.(28-30)GAA>TAA	p.E10*		NM_001001290	NP_001001290	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	Error:Variant_position_missing_in_Q9NRM0_after_alignment					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3														0.245098	67.622619	73.659998	25	77	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10027563	10027563	15049	4	C	A	A	A	416	32	SLC2A9	5	2
FGFRL1	53834	broad.mit.edu	37	4	1018108	1018108	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:1018108G>T	uc003gce.2	+	c.728G>T	c.(727-729)CGT>CTT	p.R243L	FGFRL1_uc003gcf.2_Missense_Mutation_p.R243L|FGFRL1_uc003gcg.2_Missense_Mutation_p.R243L|FGFRL1_uc010ibo.2_Missense_Mutation_p.R243L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	243	Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)											0.384615	15.972085	16.123781	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1018108	1018108	6106	4	G	T	T	T	520	40	FGFRL1	1	1
MANBA	4126	broad.mit.edu	37	4	103553402	103553402	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103553402C>T	uc003hwg.2	-	c.2452G>A	c.(2452-2454)GAC>AAC	p.D818N	MANBA_uc011ces.1_Missense_Mutation_p.D761N	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	818					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)										0.193182	76.138522	91.611661	34	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103553402	103553402	9602	4	C	T	T	T	377	29	MANBA	2	2
NDST3	9348	broad.mit.edu	37	4	119064823	119064823	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119064823C>A	uc003ibx.2	+	c.1523C>A	c.(1522-1524)ACT>AAT	p.T508N	NDST3_uc011cgf.1_Missense_Mutation_p.T427N	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	508	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1														0.3	64.046959	66.548853	21	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119064823	119064823	10656	4	C	A	A	A	260	20	NDST3	2	2
MMAA	166785	broad.mit.edu	37	4	146576326	146576326	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146576326G>T	uc003ikh.3	+	c.997G>T	c.(997-999)GAG>TAG	p.E333*	MMAA_uc010iow.2_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria type A precursor	333						mitochondrion	GTP binding|nucleoside-triphosphatase activity			ovary(1)	1	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.25419	237.15582	256.786544	91	267	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	146576326	146576326	10029	4	G	T	T	T	429	33	MMAA	5	2
POU4F2	5458	broad.mit.edu	37	4	147561705	147561705	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:147561705G>T	uc003ikv.2	+	c.975G>T	c.(973-975)GAG>GAT	p.E325D		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	325	POU-specific.				negative regulation of transcription from RNA polymerase II promoter	nuclear speck	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(1)	1	all_hematologic(180;0.151)													0.328571	125.183343	128.84106	46	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147561705	147561705	12709	4	G	T	T	T	451	35	POU4F2	2	2
NR3C2	4306	broad.mit.edu	37	4	149356498	149356498	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:149356498C>A	uc003ilj.3	-	c.1515G>T	c.(1513-1515)GAG>GAT	p.E505D	NR3C2_uc003ilk.3_Missense_Mutation_p.E505D|NR3C2_uc010iph.2_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	505	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	Melanoma(27;428 957 40335 51025 51111)								0.251748	97.827746	105.835352	36	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149356498	149356498	11036	4	C	A	A	A	311	24	NR3C2	2	2
TIGD4	201798	broad.mit.edu	37	4	153692094	153692094	+	Silent	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153692094T>C	uc003imy.2	-	c.63A>G	c.(61-63)CTA>CTG	p.L21L		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	21	HTH psq-type.					chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)													0.308219	152.925435	157.708474	45	101	KEEP	---	---	---	---	capture		Silent	SNP	153692094	153692094	16427	4	T	C	C	C	626	49	TIGD4	4	4
FGB	2244	broad.mit.edu	37	4	155487128	155487128	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155487128T>A	uc003ioa.3	+	c.283T>A	c.(283-285)TGT>AGT	p.C95S	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc003iob.3_Missense_Mutation_p.C92S|FGB_uc010ipv.2_Intron|FGB_uc010ipw.2_Missense_Mutation_p.C92S|FGB_uc003ioc.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	95			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)	2	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	NSCLC(106;1133 1613 21870 46110 52656)								0.223214	68.513454	76.404143	25	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155487128	155487128	6068	4	T	A	A	A	715	55	FGB	3	3
GLRB	2743	broad.mit.edu	37	4	158058029	158058029	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158058029C>A	uc003ipj.2	+	c.601C>A	c.(601-603)CTG>ATG	p.L201M		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	201	Extracellular (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)									0.308511	177.677684	183.822395	58	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158058029	158058029	6726	4	C	A	A	A	259	20	GLRB	2	2
MARCH1	55016	broad.mit.edu	37	4	164466875	164466875	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164466875G>T	uc003iqs.1	-	c.444C>A	c.(442-444)ACC>ACA	p.T148T	MARCH1_uc003iqr.1_Silent_p.T131T	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	148						cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.246154	315.841175	342.488881	112	343	KEEP	---	---	---	---	capture		Silent	SNP	164466875	164466875	9681	4	G	T	T	T	600	47	MARCH1	2	2
C4orf39	152756	broad.mit.edu	37	4	165878351	165878351	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:165878351G>T	uc003iqx.1	+	c.177G>T	c.(175-177)TTG>TTT	p.L59F	TRIM61_uc003iqw.2_Intron	NM_153027	NP_694572	Q96MZ4	CD039_HUMAN	hypothetical protein LOC152756	59											0	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.146)										0.157895	12.22498	16.465742	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165878351	165878351	2363	4	G	T	T	T	594	46	C4orf39	2	2
TLL1	7092	broad.mit.edu	37	4	166935713	166935713	+	Splice_Site_SNP	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:166935713G>T	uc011cjn.1	+	c.1042_splice	c.e8+1	p.A348_splice	TLL1_uc003irh.1_Splice_Site_SNP_p.A348_splice|TLL1_uc011cjo.1_Splice_Site_SNP_p.A172_splice	NM_012464	NP_036596			tolloid-like 1 precursor						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)										0.273163	504.540009	533.571861	171	455	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	166935713	166935713	16475	4	G	T	T	T	572	44	TLL1	5	2
GPM6A	2823	broad.mit.edu	37	4	176556078	176556078	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:176556078T>A	uc003iuf.2	-	c.815A>T	c.(814-816)GAG>GTG	p.E272V	GPM6A_uc011ckj.1_Missense_Mutation_p.E265V|GPM6A_uc003iug.2_Missense_Mutation_p.E272V|GPM6A_uc003iuh.2_Missense_Mutation_p.E261V	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	272	Cytoplasmic (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)										0.299003	259.128972	269.998256	90	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176556078	176556078	6889	4	T	A	A	A	702	54	GPM6A	3	3
WDR17	116966	broad.mit.edu	37	4	177069477	177069477	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177069477G>T	uc003iuj.2	+	c.1960G>T	c.(1960-1962)GAT>TAT	p.D654Y	WDR17_uc003iuk.2_Missense_Mutation_p.D630Y|WDR17_uc003ium.3_Missense_Mutation_p.D630Y|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	654	WD 12.									ovary(2)|pancreas(1)	3		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)										0.241935	115.475412	126.777094	45	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177069477	177069477	17850	4	G	T	T	T	429	33	WDR17	2	2
VEGFC	7424	broad.mit.edu	37	4	177608608	177608608	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177608608C>A	uc003ius.1	-	c.878G>T	c.(877-879)TGT>TTT	p.C293F		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	293	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|1.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(2)	2		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)						148				0.22619	98.859155	110.425711	38	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177608608	177608608	17719	4	C	A	A	A	221	17	VEGFC	2	2
FAM149A	25854	broad.mit.edu	37	4	187077232	187077232	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187077232G>T	uc003iyt.3	+	c.462G>T	c.(460-462)CCG>CCT	p.P154P	FAM149A_uc011cla.1_Silent_p.P154P|FAM149A_uc010isj.2_Silent_p.P154P|FAM149A_uc010isk.2_Non-coding_Transcript|FAM149A_uc003iyu.3_Silent_p.P154P|FAM149A_uc010isl.2_Silent_p.P154P|FAM149A_uc011clb.1_Silent_p.P154P	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	445										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)										0.241667	80.721145	88.020801	29	91	KEEP	---	---	---	---	capture		Silent	SNP	187077232	187077232	5652	4	G	T	T	T	483	38	FAM149A	1	1
ZFP42	132625	broad.mit.edu	37	4	188924008	188924008	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:188924008G>T	uc003izg.1	+	c.47G>T	c.(46-48)GGC>GTC	p.G16V	ZFP42_uc003izh.1_Missense_Mutation_p.G16V|ZFP42_uc003izi.1_Missense_Mutation_p.G16V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	16					female gonad development|male gonad development|meiosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)										0.282828	75.960092	80.153178	28	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188924008	188924008	18238	4	G	T	T	T	546	42	ZFP42	2	2
TRIML2	205860	broad.mit.edu	37	4	189020209	189020209	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189020209C>A	uc011cle.1	-	c.601G>T	c.(601-603)GGC>TGC	p.G201C	TRIML2_uc003izj.1_De_novo_Start_OutOfFrame|TRIML2_uc003izk.1_De_novo_Start_OutOfFrame|TRIML2_uc003izl.2_Missense_Mutation_p.G151C|TRIML2_uc011clf.1_Missense_Mutation_p.G201C	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	151							ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)										0.333333	69.713238	71.405106	23	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189020209	189020209	17101	4	C	A	A	A	312	24	TRIML2	2	2
RFC1	5981	broad.mit.edu	37	4	39314400	39314400	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39314400C>A	uc003gty.1	-	c.1355G>T	c.(1354-1356)CGT>CTT	p.R452L	RFC1_uc003gtx.1_Missense_Mutation_p.R452L	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	452	BRCT.				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)	3						Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)								0.268293	729.169965	772.867059	242	660	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39314400	39314400	13715	4	C	A	A	A	247	19	RFC1	1	1
KCTD8	386617	broad.mit.edu	37	4	44449622	44449622	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:44449622C>A	uc003gwu.2	-	c.919G>T	c.(919-921)GAC>TAC	p.D307Y		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	307						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3														0.25	5.846869	6.300825	2	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44449622	44449622	8421	4	C	A	A	A	403	31	KCTD8	1	1
CORIN	10699	broad.mit.edu	37	4	47685848	47685848	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47685848G>A	uc003gxm.2	-	c.921C>T	c.(919-921)AGC>AGT	p.S307S	CORIN_uc011bzf.1_Silent_p.S168S|CORIN_uc011bzg.1_Silent_p.S240S|CORIN_uc011bzh.1_Silent_p.S307S|CORIN_uc011bzi.1_Silent_p.S307S|CORIN_uc003gxn.3_Silent_p.S307S	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	307	Extracellular (Potential).|LDL-receptor class A 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)	1														0.231707	94.06253	104.877813	38	126	KEEP	---	---	---	---	capture		Silent	SNP	47685848	47685848	3890	4	G	A	A	A	490	38	CORIN	1	1
CNGA1	1259	broad.mit.edu	37	4	47939673	47939673	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47939673G>C	uc003gxu.2	-	c.1045C>G	c.(1045-1047)CGT>GGT	p.R349G	CNGA1_uc003gxt.3_Missense_Mutation_p.R280G	NM_001142564	NP_001136036	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	280	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2														0.233696	131.538364	143.473496	43	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47939673	47939673	3734	4	G	C	C	C	481	37	CNGA1	3	3
FRYL	285527	broad.mit.edu	37	4	48584628	48584628	+	Silent	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48584628A>T	uc003gyh.1	-	c.1872T>A	c.(1870-1872)CGT>CGA	p.R624R	FRYL_uc003gyk.2_Silent_p.R624R	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.186567	58.492567	70.828968	25	109	KEEP	---	---	---	---	capture		Silent	SNP	48584628	48584628	6314	4	A	T	T	T	67	6	FRYL	3	3
CEP135	9662	broad.mit.edu	37	4	56883961	56883961	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:56883961C>T	uc003hbi.2	+	c.2950C>T	c.(2950-2952)CTT>TTT	p.L984F	CEP135_uc003hbj.2_Missense_Mutation_p.L690F	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	984	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Glioma(25;0.08)|all_neural(26;0.101)													0.073394	-0.293643	20.102378	8	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56883961	56883961	3380	4	C	T	T	T	260	20	CEP135	2	2
TMPRSS11B	132724	broad.mit.edu	37	4	69100244	69100244	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69100244G>T	uc003hdw.3	-	c.406C>A	c.(406-408)CAT>AAT	p.H136N		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	136	SEA.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.221477	179.484456	200.760537	66	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69100244	69100244	16780	4	G	T	T	T	624	48	TMPRSS11B	2	2
UGT2B4	7363	broad.mit.edu	37	4	70346378	70346378	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70346378T>C	uc003hek.3	-	c.1561A>G	c.(1561-1563)ACA>GCA	p.T521A	UGT2B4_uc011cap.1_Missense_Mutation_p.T385A|UGT2B4_uc003hel.3_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	521					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.271889	182.481324	192.701696	59	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70346378	70346378	17519	4	T	C	C	C	780	60	UGT2B4	4	4
ALB	213	broad.mit.edu	37	4	74283925	74283925	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:74283925G>C	uc003hgs.3	+	c.1549G>C	c.(1549-1551)GTC>CTC	p.V517L	ALB_uc003hgw.3_Missense_Mutation_p.V325L|ALB_uc011cbe.1_Missense_Mutation_p.V196L|ALB_uc003hgt.3_Missense_Mutation_p.V517L|ALB_uc010iii.2_Missense_Mutation_p.V402L|ALB_uc003hgu.3_Missense_Mutation_p.V367L|ALB_uc003hgv.3_Missense_Mutation_p.V196L|ALB_uc011cbf.1_Missense_Mutation_p.V407L|ALB_uc010iij.2_Non-coding_Transcript|ALB_uc003hgx.3_Missense_Mutation_p.V196L	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	517	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)	3	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)									0.222513	253.365916	280.420348	85	297	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74283925	74283925	489	4	G	C	C	C	468	36	ALB	3	3
CXCL6	6372	broad.mit.edu	37	4	74702735	74702735	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:74702735C>T	uc003hhf.2	+	c.164C>T	c.(163-165)ACG>ATG	p.T55M	IL8_uc011cbh.1_Intron	NM_002993	NP_002984	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6 (granulocyte	55					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding				0	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)											0.27044	122.056977	129.613148	43	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74702735	74702735	4248	4	C	T	T	T	247	19	CXCL6	1	1
USO1	8615	broad.mit.edu	37	4	76714849	76714849	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76714849G>T	uc003hiu.2	+	c.1247G>T	c.(1246-1248)GGT>GTT	p.G416V	USO1_uc003hiv.2_Missense_Mutation_p.G251V|USO1_uc003hiw.2_Missense_Mutation_p.G251V	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	416	ARM 8.|Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)											0.166667	8.383938	10.912876	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76714849	76714849	17601	4	G	T	T	T	572	44	USO1	2	2
NAA11	84779	broad.mit.edu	37	4	80246771	80246771	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:80246771G>T	uc003hlt.3	-	c.261C>A	c.(259-261)GCC>GCA	p.A87A		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	87	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2														0.290909	88.454605	92.763566	32	78	KEEP	---	---	---	---	capture		Silent	SNP	80246771	80246771	10512	4	G	T	T	T	548	43	NAA11	2	2
TMEM150C	441027	broad.mit.edu	37	4	83417293	83417293	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:83417293C>T	uc011ccj.1	-	c.381G>A	c.(379-381)CCG>CCA	p.P127P	TMEM150C_uc003hmy.1_Silent_p.P97P	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	transmembrane protein 150C	97						integral to membrane				ovary(1)	1														0.268456	110.627768	117.843115	40	109	KEEP	---	---	---	---	capture		Silent	SNP	83417293	83417293	16601	4	C	T	T	T	236	19	TMEM150C	1	1
PTPN13	5783	broad.mit.edu	37	4	87701591	87701591	+	Silent	SNP	T	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87701591T>G	uc003hpy.2	+	c.5943T>G	c.(5941-5943)TCT>TCG	p.S1981S	PTPN13_uc003hpz.2_Silent_p.S1976S|PTPN13_uc003hqa.2_Silent_p.S1957S|PTPN13_uc003hqb.2_Silent_p.S1785S|PTPN13_uc003hqc.1_Silent_p.S342S	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1976						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)										0.284483	100.426306	105.263117	33	83	KEEP	---	---	---	---	capture		Silent	SNP	87701591	87701591	13237	4	T	G	G	G	704	55	PTPN13	4	4
FAM13A	10144	broad.mit.edu	37	4	89772323	89772323	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89772323G>A	uc003hse.1	-	c.855C>T	c.(853-855)TCC>TCT	p.S285S	FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_Silent_p.S99S	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	285					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2														0.24031	172.114795	187.998135	62	196	KEEP	---	---	---	---	capture		Silent	SNP	89772323	89772323	5649	4	G	A	A	A	600	47	FAM13A	2	2
TIGD2	166815	broad.mit.edu	37	4	90034726	90034726	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90034726G>T	uc003hsk.2	+	c.601G>T	c.(601-603)GGG>TGG	p.G201W	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	201	DDE.					chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)										0.257576	47.342161	50.858613	17	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90034726	90034726	16425	4	G	T	T	T	611	47	TIGD2	2	2
MMRN1	22915	broad.mit.edu	37	4	90857151	90857151	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90857151A>T	uc003hst.2	+	c.2320A>T	c.(2320-2322)ACA>TCA	p.T774S	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.T516S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	774					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)										0.302326	113.075372	117.575657	39	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90857151	90857151	10061	4	A	T	T	T	130	10	MMRN1	3	3
DRD5	1816	broad.mit.edu	37	4	9784629	9784629	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9784629C>A	uc003gmb.3	+	c.976C>A	c.(976-978)CCC>ACC	p.P326T		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	326	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.31068	89.757602	93.048301	32	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9784629	9784629	4944	4	C	A	A	A	286	22	DRD5	2	2
CTNND2	1501	broad.mit.edu	37	5	11022998	11022998	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11022998G>T	uc003jfa.1	-	c.2882C>A	c.(2881-2883)ACA>AAA	p.T961K	CTNND2_uc010itt.2_Missense_Mutation_p.T870K|CTNND2_uc011cmy.1_Missense_Mutation_p.T624K|CTNND2_uc011cmz.1_Missense_Mutation_p.T528K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.T553K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	961					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														0.33427	365.702171	374.362338	119	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11022998	11022998	4179	5	G	T	T	T	624	48	CTNND2	2	2
CCDC112	153733	broad.mit.edu	37	5	114611088	114611088	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:114611088C>A	uc003kqz.2	-	c.743G>T	c.(742-744)GGT>GTT	p.G248V	CCDC112_uc003kqy.2_Missense_Mutation_p.G165V|CCDC112_uc003kra.2_Missense_Mutation_p.G248V	NM_001040440	NP_001035530	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112 isoform 1	165											0		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)										0.343137	108.594381	110.811442	35	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114611088	114611088	2869	5	C	A	A	A	234	18	CCDC112	2	2
AQPEP	206338	broad.mit.edu	37	5	115346543	115346543	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115346543G>T	uc003kro.2	+	c.2199G>T	c.(2197-2199)AGG>AGT	p.R733S	AQPEP_uc003krp.2_Intron|AQPEP_uc003krq.2_Non-coding_Transcript|AQPEP_uc003krr.2_Non-coding_Transcript|AQPEP_uc003krs.2_Intron	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	733	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.268293	94.117036	100.079795	33	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115346543	115346543	845	5	G	T	T	T	555	43	AQPEP	2	2
DMXL1	1657	broad.mit.edu	37	5	118468880	118468880	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118468880G>T	uc010jcl.1	+	c.1369G>T	c.(1369-1371)GGC>TGC	p.G457C	DMXL1_uc003ksd.2_Missense_Mutation_p.G457C|DMXL1_uc003ksc.1_Missense_Mutation_p.G457C	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	457										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)										0.382716	194.909787	196.864789	62	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118468880	118468880	4776	5	G	T	T	T	455	35	DMXL1	2	2
MEGF10	84466	broad.mit.edu	37	5	126774191	126774191	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126774191C>A	uc003kuh.3	+	c.2165C>A	c.(2164-2166)GCT>GAT	p.A722D	MEGF10_uc003kui.3_Missense_Mutation_p.A722D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	722	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 13.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)										0.348837	266.157839	271.366586	90	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126774191	126774191	9849	5	C	A	A	A	364	28	MEGF10	2	2
MEGF10	84466	broad.mit.edu	37	5	126776495	126776495	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126776495C>T	uc003kuh.3	+	c.2298C>T	c.(2296-2298)GAC>GAT	p.D766D	MEGF10_uc003kui.3_Silent_p.D766D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	766	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 14.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)										0.4	291.454517	293.466016	92	138	KEEP	---	---	---	---	capture		Silent	SNP	126776495	126776495	9849	5	C	T	T	T	259	20	MEGF10	2	2
FBN2	2201	broad.mit.edu	37	5	127727745	127727745	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127727745C>A	uc003kuu.2	-	c.1569G>T	c.(1567-1569)ATG>ATT	p.M523I	FBN2_uc003kuv.2_Missense_Mutation_p.M490I	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	523	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.318408	195.933252	201.821992	64	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127727745	127727745	5939	5	C	A	A	A	273	21	FBN2	2	2
FBN2	2201	broad.mit.edu	37	5	127730885	127730885	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127730885C>A	uc003kuu.2	-	c.1161G>T	c.(1159-1161)CAG>CAT	p.Q387H	FBN2_uc003kuv.2_Missense_Mutation_p.Q354H	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	387	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.348214	119.392395	121.669276	39	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127730885	127730885	5939	5	C	A	A	A	259	20	FBN2	2	2
SLC27A6	28965	broad.mit.edu	37	5	128324424	128324424	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:128324424C>A	uc003kuy.2	+	c.817C>A	c.(817-819)CTG>ATG	p.L273M	SLC27A6_uc003kuz.2_Missense_Mutation_p.L273M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	273					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)										0.360902	304.924127	309.45588	96	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128324424	128324424	15027	5	C	A	A	A	311	24	SLC27A6	2	2
ADAMTS19	171019	broad.mit.edu	37	5	128956400	128956400	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:128956400G>T	uc003kvb.1	+	c.1550G>T	c.(1549-1551)GGT>GTT	p.G517V	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	517	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)	8		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)						425				0.386623	756.147239	763.049023	237	376	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128956400	128956400	265	5	G	T	T	T	572	44	ADAMTS19	2	2
PKD2L2	27039	broad.mit.edu	37	5	137235237	137235237	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137235237C>T	uc003lby.2	+	c.557C>T	c.(556-558)CCT>CTT	p.P186L	PKD2L2_uc010jep.1_Missense_Mutation_p.P126L|PKD2L2_uc003lbw.1_Missense_Mutation_p.P186L|PKD2L2_uc003lbx.2_Missense_Mutation_p.P186L|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	186	Extracellular (Potential).					integral to membrane	calcium ion binding|ion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.368421	69.56785	70.432165	21	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137235237	137235237	12393	5	C	T	T	T	312	24	PKD2L2	2	2
FBXL7	23194	broad.mit.edu	37	5	15936573	15936573	+	Missense_Mutation	SNP	A	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15936573A>C	uc003jfn.1	+	c.754A>C	c.(754-756)ACC>CCC	p.T252P		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	252					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.305882	85.619165	88.474943	26	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15936573	15936573	5961	5	A	C	C	C	130	10	FBXL7	4	4
GABRG2	2566	broad.mit.edu	37	5	161495054	161495054	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161495054C>A	uc010jjc.2	+	c.49C>A	c.(49-51)CCT>ACT	p.P17T	GABRG2_uc003lyy.3_Missense_Mutation_p.P17T|GABRG2_uc003lyz.3_Missense_Mutation_p.P17T|GABRG2_uc011dej.1_5'UTR	NM_198903	NP_944493	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	17					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)	4	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)										0.369565	101.823896	103.200389	34	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161495054	161495054	6423	5	C	A	A	A	390	30	GABRG2	2	2
ODZ2	57451	broad.mit.edu	37	5	167645208	167645208	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167645208C>T	uc010jjd.2	+	c.4285C>T	c.(4285-4287)CTT>TTT	p.L1429F	ODZ2_uc003lzr.3_Missense_Mutation_p.L1199F|ODZ2_uc003lzt.3_Missense_Mutation_p.L802F|ODZ2_uc010jje.2_Missense_Mutation_p.L693F	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.401806	1207.01853	1214.491626	356	530	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167645208	167645208	11240	5	C	T	T	T	312	24	ODZ2	2	2
SLIT3	6586	broad.mit.edu	37	5	168096927	168096927	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168096927C>A	uc010jjg.2	-	c.4218G>T	c.(4216-4218)GGG>GGT	p.G1406G	SLIT3_uc003mab.2_Silent_p.G1399G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1399	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.385246	143.393219	144.802754	47	75	KEEP	---	---	---	---	capture		Silent	SNP	168096927	168096927	15239	5	C	A	A	A	275	22	SLIT3	2	2
ZNF354A	6940	broad.mit.edu	37	5	178139390	178139390	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178139390T>A	uc003mjj.2	-	c.1489A>T	c.(1489-1491)AAC>TAC	p.N497Y		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	497	C2H2-type 10.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)										0.398693	186.243223	187.616973	61	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178139390	178139390	18456	5	T	A	A	A	793	61	ZNF354A	3	3
CDH9	1007	broad.mit.edu	37	5	26915967	26915967	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26915967G>A	uc003jgs.1	-	c.294C>T	c.(292-294)GGC>GGT	p.G98G	CDH9_uc010iug.2_Silent_p.G98G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	98	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.317829	229.049649	236.665623	82	176	KEEP	---	---	---	---	capture		Silent	SNP	26915967	26915967	3246	5	G	A	A	A	587	46	CDH9	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33643548	33643548	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33643548C>A	uc003jia.1	-	c.1507G>T	c.(1507-1509)GTG>TTG	p.V503L	ADAMTS12_uc010iuq.1_Missense_Mutation_p.V503L	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	503	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.280088	393.015058	412.878329	128	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33643548	33643548	258	5	C	A	A	A	247	19	ADAMTS12	1	1
SLC1A3	6507	broad.mit.edu	37	5	36686351	36686351	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36686351G>T	uc003jkj.3	+	c.1609G>T	c.(1609-1611)GAC>TAC	p.D537Y	SLC1A3_uc011cox.1_Missense_Mutation_p.D430Y|SLC1A3_uc010iuy.2_Missense_Mutation_p.D492Y	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	537					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)									0.419492	310.674217	312.011796	99	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36686351	36686351	14929	5	G	T	T	T	481	37	SLC1A3	1	1
WDR70	55100	broad.mit.edu	37	5	37703180	37703180	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37703180C>G	uc003jkv.2	+	c.1407C>G	c.(1405-1407)ATC>ATG	p.I469M		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	469	WD 7.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.137615	66.394172	94.088344	30	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37703180	37703180	17894	5	C	G	G	G	369	29	WDR70	3	3
HEATR7B2	133558	broad.mit.edu	37	5	40999785	40999785	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40999785G>C	uc003jmj.3	-	c.4579C>G	c.(4579-4581)CTC>GTC	p.L1527V	HEATR7B2_uc003jmi.3_Missense_Mutation_p.L1082V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1527							binding			ovary(6)|central_nervous_system(2)	8														0.368421	317.457956	321.218173	91	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40999785	40999785	7318	5	G	C	C	C	468	36	HEATR7B2	3	3
ESM1	11082	broad.mit.edu	37	5	54281167	54281167	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54281167C>A	uc003jpk.2	-	c.179G>T	c.(178-180)GGG>GTG	p.G60V	ESM1_uc010ivt.2_Missense_Mutation_p.G60V	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1 isoform a	60	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)											0.312925	132.690788	137.273325	46	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54281167	54281167	5445	5	C	A	A	A	286	22	ESM1	2	2
ANKRD55	79722	broad.mit.edu	37	5	55406997	55406997	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:55406997G>T	uc003jqu.2	-	c.1578C>A	c.(1576-1578)CAC>CAA	p.H526Q	ANKRD55_uc003jqt.2_Missense_Mutation_p.H238Q	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	525											0		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)												0.319149	318.862591	328.422895	105	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55406997	55406997	689	5	G	T	T	T	568	44	ANKRD55	2	2
CENPK	64105	broad.mit.edu	37	5	64824289	64824289	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64824289T>C	uc003jts.2	-	c.587A>G	c.(586-588)AAA>AGA	p.K196R	CENPK_uc003jtt.2_Missense_Mutation_p.K166R|CENPK_uc003jtu.2_Missense_Mutation_p.K196R	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	196					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)										0.333333	59.359737	60.6135	17	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64824289	64824289	3368	5	T	C	C	C	832	64	CENPK	4	4
SEMA5A	9037	broad.mit.edu	37	5	9063152	9063152	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9063152C>A	uc003jek.2	-	c.2365G>T	c.(2365-2367)GCC>TCC	p.A789S		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	789	TSP type-1 5.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.117647	11.050334	20.822634	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9063152	9063152	14523	5	C	A	A	A	364	28	SEMA5A	2	2
ASCC3	10973	broad.mit.edu	37	6	101095256	101095256	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:101095256C>A	uc003pqk.2	-	c.3324G>T	c.(3322-3324)AGG>AGT	p.R1108S	ASCC3_uc011eai.1_Missense_Mutation_p.R1010S	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1108	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)	5		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)										0.477876	176.045362	176.093399	54	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101095256	101095256	1051	6	C	A	A	A	337	26	ASCC3	2	2
SLC22A16	85413	broad.mit.edu	37	6	110757068	110757068	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110757068G>T	uc003puf.2	-	c.1408C>A	c.(1408-1410)CCA>ACA	p.P470T	SLC22A16_uc003pue.2_Missense_Mutation_p.P451T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	470					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)										0.294118	199.14963	208.181497	70	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110757068	110757068	14943	6	G	T	T	T	533	41	SLC22A16	2	2
GPRC6A	222545	broad.mit.edu	37	6	117128061	117128061	+	Silent	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117128061G>C	uc003pxj.1	-	c.807C>G	c.(805-807)GCC>GCG	p.A269A	GPRC6A_uc003pxk.1_Silent_p.A269A|GPRC6A_uc003pxl.1_Silent_p.A269A	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	269	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)										0.362162	207.870977	210.965721	67	118	KEEP	---	---	---	---	capture		Silent	SNP	117128061	117128061	7004	6	G	C	C	C	548	43	GPRC6A	3	3
GJA1	2697	broad.mit.edu	37	6	121768935	121768935	+	Missense_Mutation	SNP	T	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:121768935T>G	uc003pyr.2	+	c.942T>G	c.(940-942)AGT>AGG	p.S314R	GJA1_uc011ebo.1_Missense_Mutation_p.S215R|GJA1_uc011ebp.1_Missense_Mutation_p.S102R	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	314	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)									0.307087	256.949571	265.380599	78	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121768935	121768935	6668	6	T	G	G	G	764	59	GJA1	4	4
LAMA2	3908	broad.mit.edu	37	6	129470172	129470172	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129470172C>A	uc003qbn.2	+	c.958C>A	c.(958-960)CAG>AAG	p.Q320K	LAMA2_uc003qbo.2_Missense_Mutation_p.Q320K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	320	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.221402	153.845756	173.208485	60	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129470172	129470172	8929	6	C	A	A	A	377	29	LAMA2	2	2
MOXD1	26002	broad.mit.edu	37	6	132693794	132693794	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132693794G>T	uc003qdf.2	-	c.616C>A	c.(616-618)CAA>AAA	p.Q206K	MOXD1_uc003qde.2_Missense_Mutation_p.Q138K	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	206	Lumenal (Potential).				catecholamine metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)										0.238095	152.301677	166.780523	55	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132693794	132693794	10112	6	G	T	T	T	611	47	MOXD1	2	2
BCLAF1	9774	broad.mit.edu	37	6	136590641	136590641	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136590641C>A	uc003qgx.1	-	c.2153G>T	c.(2152-2154)AGT>ATT	p.S718I	BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgw.1_Missense_Mutation_p.S545I|BCLAF1_uc003qgy.1_Missense_Mutation_p.S716I|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.S716I	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	718					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		Colon(142;1534 1789 5427 7063 28491)								0.147541	37.263519	51.820802	18	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136590641	136590641	1404	6	C	A	A	A	260	20	BCLAF1	2	2
TXLNB	167838	broad.mit.edu	37	6	139583834	139583834	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139583834G>T	uc011eds.1	-	c.764C>A	c.(763-765)ACG>AAG	p.T255K		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	255	Potential.					cytoplasm				large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)										0.299465	173.729508	180.447376	56	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139583834	139583834	17344	6	G	T	T	T	520	40	TXLNB	1	1
UTRN	7402	broad.mit.edu	37	6	144854358	144854358	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:144854358G>T	uc003qkt.2	+	c.6195G>T	c.(6193-6195)TGG>TGT	p.W2065C		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2065	Spectrin 14.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)										0.202312	165.735067	194.234548	70	276	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144854358	144854358	17668	6	G	T	T	T	559	43	UTRN	2	2
GPR31	2853	broad.mit.edu	37	6	167571250	167571250	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167571250C>G	uc011egq.1	-	c.70G>C	c.(70-72)GAG>CAG	p.E24Q		NM_005299	NP_005290	O00270	GPR31_HUMAN	G protein-coupled receptor 31	24	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)										0.354839	68.216125	69.37421	22	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167571250	167571250	6962	6	C	G	G	G	390	30	GPR31	3	3
THBS2	7058	broad.mit.edu	37	6	169648571	169648571	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169648571G>A	uc003qwt.2	-	c.550C>T	c.(550-552)CAG>TAG	p.Q184*		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	184	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		Esophageal Squamous(91;219 1934 18562 44706)								0.325	141.244598	145.592881	52	108	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	169648571	169648571	16382	6	G	A	A	A	598	46	THBS2	5	2
SCGN	10590	broad.mit.edu	37	6	25669751	25669751	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25669751T>A	uc003nfb.2	+	c.349T>A	c.(349-351)TAT>AAT	p.Y117N	SCGN_uc010jpz.2_Missense_Mutation_p.N26K	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	117	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3														0.378882	200.43862	202.510217	61	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25669751	25669751	14385	6	T	A	A	A	637	49	SCGN	3	3
MDC1	9656	broad.mit.edu	37	6	30680116	30680116	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30680116T>C	uc003nrg.3	-	c.1603A>G	c.(1603-1605)ATT>GTT	p.I535V	MDC1_uc003nrf.3_Missense_Mutation_p.I189V|MDC1_uc011dmp.1_Missense_Mutation_p.I407V|MDC1_uc003nrh.1_Missense_Mutation_p.I407V|MDC1_uc003nri.2_Missense_Mutation_p.I535V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	535	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4														0.171171	45.554844	56.901811	19	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30680116	30680116	9792	6	T	C	C	C	663	51	MDC1	4	4
PPT2	9374	broad.mit.edu	37	6	32122510	32122510	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32122510G>T	uc003nzw.2	+	c.157G>T	c.(157-159)GAC>TAC	p.D53Y	PRRT1_uc003nzs.2_5'Flank|PRRT1_uc003nzt.2_5'Flank|PRRT1_uc003nzu.2_5'Flank|PPT2_uc003nzx.2_Missense_Mutation_p.D47Y|PPT2_uc011dpi.1_Non-coding_Transcript|PPT2_uc003nzy.1_Non-coding_Transcript|PPT2_uc003nzz.2_Missense_Mutation_p.D47Y|PPT2_uc003oaa.2_Missense_Mutation_p.D47Y|PPT2_uc010jtu.1_Missense_Mutation_p.D47Y	NM_138717	NP_619731	Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2 isoform b	47					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity				0														0.075472	-0.444166	9.353827	4	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32122510	32122510	12848	6	G	T	T	T	481	37	PPT2	1	1
DNAH8	1769	broad.mit.edu	37	6	38758175	38758175	+	Silent	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38758175A>G	uc003ooe.1	+	c.2124A>G	c.(2122-2124)TTA>TTG	p.L708L		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	708					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.482143	204.250274	204.281133	54	58	KEEP	---	---	---	---	capture		Silent	SNP	38758175	38758175	4790	6	A	G	G	G	167	13	DNAH8	4	4
C6orf130	221443	broad.mit.edu	37	6	41036604	41036604	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41036604C>A	uc003opm.2	-	c.332G>T	c.(331-333)GGA>GTA	p.G111V	UNC5CL_uc010jxe.1_Intron|C6orf130_uc010jxg.2_Missense_Mutation_p.G111V|C6orf130_uc003opn.2_Intron	NM_145063	NP_659500	Q9Y530	CF130_HUMAN	hypothetical protein LOC221443	111	Macro.										0	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.424242	42.043722	42.209165	14	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41036604	41036604	2431	6	C	A	A	A	390	30	C6orf130	2	2
SLC22A7	10864	broad.mit.edu	37	6	43269342	43269342	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43269342G>T	uc003out.2	+	c.973G>T	c.(973-975)GGG>TGG	p.G325W	SLC22A7_uc010jyl.1_Missense_Mutation_p.G326W|SLC22A7_uc003ous.2_Missense_Mutation_p.G323W	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	325						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)											0.381818	65.062791	65.736088	21	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43269342	43269342	14956	6	G	T	T	T	507	39	SLC22A7	1	1
TCTE1	202500	broad.mit.edu	37	6	44254167	44254167	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44254167C>A	uc003oxi.2	-	c.380G>T	c.(379-381)AGT>ATT	p.S127I	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	127										ovary(2)	2	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)											0.066667	-1.551976	10.127806	4	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44254167	44254167	16243	6	C	A	A	A	260	20	TCTE1	2	2
SPATS1	221409	broad.mit.edu	37	6	44337843	44337843	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44337843A>G	uc003oxk.2	+	c.751A>G	c.(751-753)ATT>GTT	p.I251V	SPATS1_uc003oxg.2_Non-coding_Transcript|SPATS1_uc010jzb.2_Missense_Mutation_p.I136V	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	251											0	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)											0.444444	161.09157	161.357312	44	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44337843	44337843	15528	6	A	G	G	G	52	4	SPATS1	4	4
GPR111	222611	broad.mit.edu	37	6	47646847	47646847	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47646847C>A	uc010jzj.1	+	c.448C>A	c.(448-450)CTT>ATT	p.L150I	GPR111_uc010jzk.1_Missense_Mutation_p.L82I|GPR111_uc003oyy.2_Non-coding_Transcript	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	150	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1														0.108434	20.419001	45.649952	18	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47646847	47646847	6902	6	C	A	A	A	416	32	GPR111	2	2
OPN5	221391	broad.mit.edu	37	6	47759675	47759675	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47759675G>T	uc003ozc.2	+	c.388G>T	c.(388-390)GAT>TAT	p.D130Y	OPN5_uc003ozd.2_5'UTR	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	130	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						Melanoma(28;740 973 10870 42660 45347)								0.246445	129.587069	141.942843	52	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47759675	47759675	11289	6	G	T	T	T	533	41	OPN5	2	2
CRISP1	167	broad.mit.edu	37	6	49806202	49806202	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49806202C>G	uc003ozw.2	-	c.570G>C	c.(568-570)AAG>AAC	p.K190N	CRISP1_uc003ozx.2_Intron	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	190					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)													0.149533	112.878617	150.690636	48	273	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49806202	49806202	4018	6	C	G	G	G	415	32	CRISP1	3	3
TINAG	27283	broad.mit.edu	37	6	54214562	54214562	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54214562C>A	uc003pcj.2	+	c.948C>A	c.(946-948)ACC>ACA	p.T316T	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	316					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)											0.287435	496.780497	520.326985	167	414	KEEP	---	---	---	---	capture		Silent	SNP	54214562	54214562	16450	6	C	A	A	A	262	21	TINAG	2	2
GFRAL	389400	broad.mit.edu	37	6	55216293	55216293	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55216293C>A	uc003pcm.1	+	c.613C>A	c.(613-615)CTT>ATT	p.L205I		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	205	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)											0.327988	657.195512	675.167046	225	461	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55216293	55216293	6619	6	C	A	A	A	416	32	GFRAL	2	2
EYS	346007	broad.mit.edu	37	6	66053948	66053948	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:66053948G>T	uc011dxu.1	-	c.1582C>A	c.(1582-1584)CAT>AAT	p.H528N	EYS_uc003peq.2_Missense_Mutation_p.H528N|EYS_uc003per.1_Missense_Mutation_p.H528N	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	528					response to stimulus|visual perception	extracellular region	calcium ion binding			ovary(1)	1														0.246324	188.984902	204.92271	67	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66053948	66053948	5526	6	G	T	T	T	624	48	EYS	2	2
BAI3	577	broad.mit.edu	37	6	69759227	69759227	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69759227G>T	uc003pev.3	+	c.2322G>T	c.(2320-2322)TTG>TTT	p.L774F	BAI3_uc010kak.2_Missense_Mutation_p.L774F	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	774	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.247423	66.450081	72.082206	24	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69759227	69759227	1321	6	G	T	T	T	594	46	BAI3	2	2
COL12A1	1303	broad.mit.edu	37	6	75828759	75828759	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75828759C>A	uc003phs.2	-	c.7354G>T	c.(7354-7356)GGG>TGG	p.G2452W	COL12A1_uc003pht.2_Missense_Mutation_p.G1288W	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2452	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.219081	164.090966	184.668615	62	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75828759	75828759	3807	6	C	A	A	A	312	24	COL12A1	2	2
COL12A1	1303	broad.mit.edu	37	6	75893229	75893229	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75893229C>A	uc003phs.2	-	c.1428G>T	c.(1426-1428)AGG>AGT	p.R476S	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.R134S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	476	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.30597	116.442568	120.931747	41	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75893229	75893229	3807	6	C	A	A	A	285	22	COL12A1	2	2
COL12A1	1303	broad.mit.edu	37	6	75899098	75899098	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75899098C>A	uc003phs.2	-	c.659_splice	c.e7-1	p.G220_splice	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361			collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.169231	23.881489	30.615074	11	54	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	75899098	75899098	3807	6	C	A	A	A	312	24	COL12A1	5	2
FILIP1	27145	broad.mit.edu	37	6	76023009	76023009	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76023009C>A	uc010kbe.2	-	c.2548G>T	c.(2548-2550)GTG>TTG	p.V850L	FILIP1_uc003phy.1_Missense_Mutation_p.V847L|FILIP1_uc003phz.2_Missense_Mutation_p.V748L|FILIP1_uc003pia.2_Missense_Mutation_p.V847L|FILIP1_uc003pib.1_Missense_Mutation_p.V599L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	847											0														0.286573	430.659014	451.02608	143	356	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76023009	76023009	6132	6	C	A	A	A	247	19	FILIP1	1	1
ZAN	7455	broad.mit.edu	37	7	100373326	100373327	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100373326_100373327CC>AA	uc003uwj.2	+	c.6063_6064CC>AA	c.(6061-6066)TCCCAG>TCAAAG	p.Q2022K	ZAN_uc003uwk.2_Missense_Mutation_p.Q2022K|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kke.1_Missense_Mutation_p.Q109K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2022	Extracellular (Potential).|VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.083333	1.560265	10.030595	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	100373326	100373327	18096	7	CC	AA	AA	AA	275	22	ZAN	2	2
MUC17	140453	broad.mit.edu	37	7	100683947	100683947	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100683947A>G	uc003uxp.1	+	c.9250A>G	c.(9250-9252)AGT>GGT	p.S3084G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3084	Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.194748	212.18091	252.082511	89	368	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100683947	100683947	10368	7	A	G	G	G	91	7	MUC17	4	4
LRWD1	222229	broad.mit.edu	37	7	102106703	102106703	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:102106703G>A	uc003uzn.2	+	c.418G>A	c.(418-420)GAG>AAG	p.E140K	ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	140					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding				0														0.136364	10.117325	15.75352	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102106703	102106703	9423	7	G	A	A	A	533	41	LRWD1	2	2
RELN	5649	broad.mit.edu	37	7	103275876	103275876	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103275876G>T	uc003vca.2	-	c.2461C>A	c.(2461-2463)CCC>ACC	p.P821T	RELN_uc010liz.2_Missense_Mutation_p.P821T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	821					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.245763	75.213266	82.160792	29	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103275876	103275876	13689	7	G	T	T	T	546	42	RELN	2	2
PIK3CG	5294	broad.mit.edu	37	7	106513259	106513259	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106513259G>T	uc003vdv.3	+	c.2163G>T	c.(2161-2163)CTG>CTT	p.L721L	PIK3CG_uc003vdu.2_Silent_p.L721L|PIK3CG_uc003vdw.2_Silent_p.L721L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	721					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.293233	111.569645	116.661138	39	94	KEEP	---	---	---	---	capture		Silent	SNP	106513259	106513259	12340	7	G	T	T	T	574	45	PIK3CG	2	2
NRCAM	4897	broad.mit.edu	37	7	107834586	107834586	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107834586A>T	uc003vfb.2	-	c.1660T>A	c.(1660-1662)TAT>AAT	p.Y554N	NRCAM_uc003vfc.2_Missense_Mutation_p.Y548N|NRCAM_uc011kmk.1_Missense_Mutation_p.Y549N|NRCAM_uc003vfd.2_Missense_Mutation_p.Y530N|NRCAM_uc003vfe.2_Missense_Mutation_p.Y530N	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	554	Ig-like 6.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5														0.13649	89.528179	135.454851	49	310	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107834586	107834586	11049	7	A	T	T	T	208	16	NRCAM	3	3
ING3	54556	broad.mit.edu	37	7	120608099	120608099	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120608099G>C	uc003vjn.2	+	c.668G>C	c.(667-669)GGG>GCG	p.G223A	ING3_uc003vjo.2_5'UTR|ING3_uc003vjp.2_Missense_Mutation_p.G223A|ING3_uc011kns.1_Missense_Mutation_p.G208A	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3 isoform 1	223					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)													0.266667	60.154572	64.584062	24	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120608099	120608099	8038	7	G	C	C	C	559	43	ING3	3	3
PTPRZ1	5803	broad.mit.edu	37	7	121652315	121652315	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121652315C>A	uc003vjy.2	+	c.3215C>A	c.(3214-3216)CCC>CAC	p.P1072H	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1072	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.314685	271.857519	280.589929	90	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121652315	121652315	13272	7	C	A	A	A	286	22	PTPRZ1	2	2
GRM8	2918	broad.mit.edu	37	7	126173167	126173167	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126173167T>C	uc003vlr.2	-	c.2269A>G	c.(2269-2271)ATC>GTC	p.I757V	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.I757V|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	757	Helical; Name=5; (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)									0.260563	119.315108	126.680171	37	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126173167	126173167	7082	7	T	C	C	C	637	49	GRM8	4	4
PLXNA4	91584	broad.mit.edu	37	7	131864655	131864655	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131864655G>T	uc003vra.3	-	c.3665C>A	c.(3664-3666)TCC>TAC	p.S1222Y		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1222	IPT/TIG 4.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.388889	18.017941	18.213522	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131864655	131864655	12548	7	G	T	T	T	533	41	PLXNA4	2	2
PLXNA4	91584	broad.mit.edu	37	7	132192299	132192299	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:132192299C>A	uc003vra.3	-	c.1154G>T	c.(1153-1155)TGG>TTG	p.W385L	PLXNA4_uc003vrc.2_Missense_Mutation_p.W385L|PLXNA4_uc003vrb.2_Missense_Mutation_p.W385L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	385	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.251969	90.844511	97.936744	32	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132192299	132192299	12548	7	C	A	A	A	273	21	PLXNA4	2	2
DGKI	9162	broad.mit.edu	37	7	137151659	137151659	+	Splice_Site_SNP	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137151659C>T	uc003vtt.2	-	c.2498_splice	c.e26-1	p.D833_splice	DGKI_uc003vtu.2_Missense_Mutation_p.D543N	NM_004717	NP_004708			diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.23913	92.502887	101.078632	33	105	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	137151659	137151659	4650	7	C	T	T	T	416	32	DGKI	5	2
DGKI	9162	broad.mit.edu	37	7	137172361	137172361	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137172361G>A	uc003vtt.2	-	c.2377C>T	c.(2377-2379)CAG>TAG	p.Q793*	DGKI_uc003vtu.2_Nonsense_Mutation_p.Q493*	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	793					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.195329	205.60374	246.387051	92	379	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	137172361	137172361	4650	7	G	A	A	A	624	48	DGKI	5	2
ZC3HAV1	56829	broad.mit.edu	37	7	138768597	138768597	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138768597G>A	uc003vun.2	-	c.626C>T	c.(625-627)CCC>CTC	p.P209L	ZC3HAV1_uc003vup.2_Missense_Mutation_p.P209L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	209					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1														0.219512	95.810485	107.694754	36	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138768597	138768597	18163	7	G	A	A	A	559	43	ZC3HAV1	2	2
EPHB6	2051	broad.mit.edu	37	7	142566456	142566456	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142566456G>T	uc011kst.1	+	c.2245G>T	c.(2245-2247)GAG>TAG	p.E749*	EPHB6_uc011ksu.1_Nonsense_Mutation_p.E749*|EPHB6_uc003wbs.2_Nonsense_Mutation_p.E457*|EPHB6_uc003wbt.2_Nonsense_Mutation_p.E223*|EPHB6_uc003wbu.2_Nonsense_Mutation_p.E457*|EPHB6_uc003wbv.2_Nonsense_Mutation_p.E133*	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	749	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.157143	19.877103	27.729834	11	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	142566456	142566456	5371	7	G	T	T	T	533	41	EPHB6	5	2
TAS2R60	338398	broad.mit.edu	37	7	143141256	143141256	+	Silent	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143141256C>G	uc011ktg.1	+	c.711C>G	c.(709-711)CCC>CCG	p.P237P		NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	237	Helical; Name=6; (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity				0	Melanoma(164;0.172)													0.26935	233.280387	248.788829	87	236	KEEP	---	---	---	---	capture		Silent	SNP	143141256	143141256	16107	7	C	G	G	G	262	21	TAS2R60	3	3
GIMAP8	155038	broad.mit.edu	37	7	150174417	150174417	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150174417G>T	uc003whj.2	+	c.1547G>T	c.(1546-1548)CGC>CTC	p.R516L		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	516						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)										0.290503	153.132876	160.1685	52	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150174417	150174417	6653	7	G	T	T	T	494	38	GIMAP8	1	1
TMEM195	392636	broad.mit.edu	37	7	15430314	15430314	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15430314A>T	uc003stb.1	-	c.804T>A	c.(802-804)TTT>TTA	p.F268L		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	268					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0														0.109589	12.344373	23.359815	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15430314	15430314	16652	7	A	T	T	T	63	5	TMEM195	3	3
RNF32	140545	broad.mit.edu	37	7	156469174	156469174	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:156469174G>A	uc003wmo.2	+	c.914G>A	c.(913-915)GGT>GAT	p.G305D	RNF32_uc010lqm.2_Missense_Mutation_p.G305D|RNF32_uc003wmq.2_3'UTR|RNF32_uc003wmr.2_Missense_Mutation_p.G305D|RNF32_uc003wmu.2_Non-coding_Transcript	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	305	RING-type 2; atypical.					aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)										0.129032	12.257458	20.565541	8	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156469174	156469174	13967	7	G	A	A	A	572	44	RNF32	2	2
ESYT2	57488	broad.mit.edu	37	7	158531731	158531731	+	Silent	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:158531731C>G	uc003wob.1	-	c.2331G>C	c.(2329-2331)GTG>GTC	p.V777V	ESYT2_uc003wny.1_Non-coding_Transcript|ESYT2_uc003wnz.1_Silent_p.V216V|ESYT2_uc003woa.1_Silent_p.V354V	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	805	C2 3.					integral to membrane|plasma membrane				kidney(1)	1														0.202454	84.274033	97.687396	33	130	KEEP	---	---	---	---	capture		Silent	SNP	158531731	158531731	5458	7	C	G	G	G	262	21	ESYT2	3	3
FERD3L	222894	broad.mit.edu	37	7	19184711	19184711	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19184711G>T	uc003suo.1	-	c.275C>A	c.(274-276)CCC>CAC	p.P92H		NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			large_intestine(1)	1														0.338028	73.877535	75.525086	24	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19184711	19184711	6053	7	G	T	T	T	559	43	FERD3L	2	2
HOXA5	3202	broad.mit.edu	37	7	27181480	27181480	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27181480C>A	uc003syn.1	-	c.787G>T	c.(787-789)GCG>TCG	p.A263S		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	263					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0						Colon(119;75 2200 7557 42868)						OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.214286	22.351838	25.518885	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27181480	27181480	7587	7	C	A	A	A	351	27	HOXA5	1	1
HERPUD2	64224	broad.mit.edu	37	7	35709856	35709856	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:35709856C>T	uc003tet.2	-	c.308G>A	c.(307-309)AGT>AAT	p.S103N	HERPUD2_uc003tes.3_Missense_Mutation_p.S103N	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	103	Ser-rich.				response to unfolded protein	integral to membrane				ovary(3)	3														0.135417	46.611613	71.34396	26	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35709856	35709856	7347	7	C	T	T	T	260	20	HERPUD2	2	2
AMPH	273	broad.mit.edu	37	7	38471793	38471793	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:38471793C>A	uc003tgu.2	-	c.1154G>T	c.(1153-1155)TGG>TTG	p.W385L	AMPH_uc003tgv.2_Missense_Mutation_p.W385L|AMPH_uc003tgt.2_Missense_Mutation_p.W138L|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	385					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)	4														0.273585	171.656367	181.448437	58	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38471793	38471793	591	7	C	A	A	A	273	21	AMPH	2	2
HECW1	23072	broad.mit.edu	37	7	43436451	43436451	+	Silent	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43436451A>G	uc003tid.1	+	c.594A>G	c.(592-594)GGA>GGG	p.G198G	HECW1_uc011kbi.1_Silent_p.G198G|HECW1_uc003tie.1_Silent_p.G230G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	198	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.118852	51.799105	86.602593	29	215	KEEP	---	---	---	---	capture		Silent	SNP	43436451	43436451	7325	7	A	G	G	G	119	10	HECW1	4	4
HECW1	23072	broad.mit.edu	37	7	43447307	43447307	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43447307G>T	uc003tid.1	+	c.778G>T	c.(778-780)GTG>TTG	p.V260L	HECW1_uc011kbi.1_Missense_Mutation_p.V260L|HECW1_uc003tie.1_Missense_Mutation_p.V292L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	260	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.111675	29.60611	58.958977	22	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43447307	43447307	7325	7	G	T	T	T	520	40	HECW1	1	1
URGCP	55665	broad.mit.edu	37	7	43918478	43918478	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43918478T>A	uc003tiw.2	-	c.584A>T	c.(583-585)GAC>GTC	p.D195V	URGCP_uc003tiu.2_Missense_Mutation_p.D152V|URGCP_uc003tiv.2_Missense_Mutation_p.D120V|URGCP_uc003tix.2_Missense_Mutation_p.D186V|URGCP_uc003tiy.2_Missense_Mutation_p.D152V|URGCP_uc003tiz.2_Missense_Mutation_p.D152V|URGCP_uc011kbj.1_Missense_Mutation_p.D152V	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	195					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)	3														0.5	60.12382	60.12382	19	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43918478	43918478	17588	7	T	A	A	A	754	58	URGCP	3	3
PKD1L1	168507	broad.mit.edu	37	7	47869180	47869180	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47869180C>T	uc003tny.1	-	c.6578G>A	c.(6577-6579)GGT>GAT	p.G2193D	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2193	Helical; (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.117216	43.595481	82.938636	32	241	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47869180	47869180	12388	7	C	T	T	T	234	18	PKD1L1	2	2
ZPBP	11055	broad.mit.edu	37	7	50121455	50121455	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:50121455C>A	uc003tou.2	-	c.249G>T	c.(247-249)GTG>GTT	p.V83V	ZPBP_uc011kci.1_Silent_p.V9V|ZPBP_uc010kyw.2_Silent_p.V83V	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	83					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)													0.256917	185.050453	198.605818	65	188	KEEP	---	---	---	---	capture		Silent	SNP	50121455	50121455	18823	7	C	A	A	A	210	17	ZPBP	2	2
POM121L12	285877	broad.mit.edu	37	7	53104085	53104085	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53104085G>T	uc003tpz.2	+	c.721G>T	c.(721-723)GGC>TGC	p.G241C		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	241											0														0.153846	8.585119	11.561763	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53104085	53104085	12669	7	G	T	T	T	507	39	POM121L12	1	1
WBSCR22	114049	broad.mit.edu	37	7	73101344	73101344	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73101344G>T	uc003tyu.2	+	c.281G>T	c.(280-282)CGA>CTA	p.R94L	WBSCR22_uc010lbi.1_Intron|WBSCR22_uc003tyt.2_Missense_Mutation_p.R94L|WBSCR22_uc003tyv.2_Missense_Mutation_p.R56L|WBSCR22_uc003tyw.1_Intron	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	94						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)												0.246575	50.112176	54.381481	18	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73101344	73101344	17837	7	G	T	T	T	481	37	WBSCR22	1	1
CLIP2	7461	broad.mit.edu	37	7	73768231	73768231	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73768231G>T	uc003uam.2	+	c.700G>T	c.(700-702)GTG>TTG	p.V234L	CLIP2_uc003uan.2_Missense_Mutation_p.V234L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	234						microtubule associated complex					0														0.263889	224.686321	239.190575	76	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73768231	73768231	3671	7	G	T	T	T	520	40	CLIP2	1	1
HGF	3082	broad.mit.edu	37	7	81388081	81388081	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81388081C>A	uc003uhl.2	-	c.294G>T	c.(292-294)TGG>TGT	p.W98C	HGF_uc003uhm.2_Missense_Mutation_p.W98C|HGF_uc003uhn.1_Missense_Mutation_p.W98C|HGF_uc003uho.1_Missense_Mutation_p.W98C|HGF_uc003uhp.2_Missense_Mutation_p.W98C	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	98	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.225352	80.519727	90.362683	32	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81388081	81388081	7369	7	C	A	A	A	234	18	HGF	2	2
CACNA2D1	781	broad.mit.edu	37	7	81978919	81978919	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81978919C>A	uc003uhr.1	-	c.142G>T	c.(142-144)GCA>TCA	p.A48S		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	48	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.257453	261.64989	281.325775	95	274	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81978919	81978919	2664	7	C	A	A	A	338	26	CACNA2D1	2	2
PCLO	27445	broad.mit.edu	37	7	82581394	82581394	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82581394C>A	uc003uhx.2	-	c.8875G>T	c.(8875-8877)GCA>TCA	p.A2959S	PCLO_uc003uhv.2_Missense_Mutation_p.A2959S|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2890					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														0.295082	260.41972	271.884012	90	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82581394	82581394	12003	7	C	A	A	A	325	25	PCLO	2	2
ZNF804B	219578	broad.mit.edu	37	7	88965693	88965693	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88965693G>T	uc011khi.1	+	c.3397G>T	c.(3397-3399)GAA>TAA	p.E1133*		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1133						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)											0.282297	168.726814	177.63218	59	150	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88965693	88965693	18769	7	G	T	T	T	429	33	ZNF804B	5	2
SLC25A13	10165	broad.mit.edu	37	7	95818951	95818951	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:95818951C>A	uc003uog.3	-	c.790G>T	c.(790-792)GTT>TTT	p.V264F	SLC25A13_uc003uof.3_Missense_Mutation_p.V264F|SLC25A13_uc011kik.1_Missense_Mutation_p.V156F	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 1	264					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)	3	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)									0.285256	263.696192	276.578548	89	223	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95818951	95818951	14972	7	C	A	A	A	234	18	SLC25A13	2	2
SPAG1	6674	broad.mit.edu	37	8	101253240	101253240	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101253240A>G	uc003yjh.1	+	c.2771A>G	c.(2770-2772)TAT>TGT	p.Y924C	SPAG1_uc003yji.1_Missense_Mutation_p.Y924C	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	924					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)										0.451372	668.97421	669.793612	181	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101253240	101253240	15478	8	A	G	G	G	208	16	SPAG1	4	4
CSMD3	114788	broad.mit.edu	37	8	113504881	113504881	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113504881G>T	uc003ynu.2	-	c.5115C>A	c.(5113-5115)GGC>GGA	p.G1705G	CSMD3_uc003yns.2_Silent_p.G977G|CSMD3_uc003ynt.2_Silent_p.G1665G|CSMD3_uc011lhx.1_Silent_p.G1601G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1705	Extracellular (Potential).|Sushi 9.					integral to membrane|plasma membrane		p.G1705G(1)		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)			0.383863	499.176753	504.014899	157	252	KEEP	---	---	---	---	capture		Silent	SNP	113504881	113504881	4087	8	G	T	T	T	587	46	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113529424	113529424	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113529424C>A	uc003ynu.2	-	c.4595G>T	c.(4594-4596)GGG>GTG	p.G1532V	CSMD3_uc003yns.2_Missense_Mutation_p.G804V|CSMD3_uc003ynt.2_Missense_Mutation_p.G1492V|CSMD3_uc011lhx.1_Missense_Mutation_p.G1428V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1532	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)			0.410596	191.420078	192.47507	62	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113529424	113529424	4087	8	C	A	A	A	286	22	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113988231	113988231	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113988231C>A	uc003ynu.2	-	c.1177G>T	c.(1177-1179)GAA>TAA	p.E393*	CSMD3_uc003ynt.2_Nonsense_Mutation_p.E353*|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	393	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)			0.170616	71.157202	92.818856	36	175	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113988231	113988231	4087	8	C	A	A	A	390	30	CSMD3	5	2
SLC30A8	169026	broad.mit.edu	37	8	118174010	118174010	+	Silent	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:118174010C>A	uc003yoh.2	+	c.606C>A	c.(604-606)GGC>GGA	p.G202G	SLC30A8_uc010mcz.2_Silent_p.G153G|SLC30A8_uc011lia.1_Silent_p.G153G|SLC30A8_uc003yog.2_Silent_p.G153G	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	202	HXXXXX[HY]NH-motif.|Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion binding|zinc ion transmembrane transporter activity			ovary(2)|skin(1)	3	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			Ovarian(162;1202 1922 6011 16223 52092)								0.186131	113.661427	138.959219	51	223	KEEP	---	---	---	---	capture		Silent	SNP	118174010	118174010	15058	8	C	A	A	A	327	26	SLC30A8	2	2
COL14A1	7373	broad.mit.edu	37	8	121220515	121220515	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121220515G>A	uc003yox.2	+	c.1236G>A	c.(1234-1236)TTG>TTA	p.L412L	COL14A1_uc003yoy.2_Silent_p.L90L|COL14A1_uc010mde.1_Silent_p.L90L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	412	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.38	115.92374	117.187836	38	62	KEEP	---	---	---	---	capture		Silent	SNP	121220515	121220515	3809	8	G	A	A	A	581	45	COL14A1	2	2
FER1L6	654463	broad.mit.edu	37	8	125109517	125109517	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125109517C>T	uc003yqw.2	+	c.4701C>T	c.(4699-4701)CGC>CGT	p.R1567R		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1567	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)											0.52518	463.349008	463.501267	146	132	KEEP	---	---	---	---	capture		Silent	SNP	125109517	125109517	6052	8	C	T	T	T	327	26	FER1L6	2	2
ADCY8	114	broad.mit.edu	37	8	131964130	131964130	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131964130G>C	uc003ytd.3	-	c.1225C>G	c.(1225-1227)CGC>GGC	p.R409G	ADCY8_uc010mds.2_Missense_Mutation_p.R409G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	409	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.238095	151.74763	164.902489	50	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131964130	131964130	301	8	G	C	C	C	481	37	ADCY8	3	3
CYP11B2	1585	broad.mit.edu	37	8	143994002	143994002	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143994002G>T	uc003yxk.1	-	c.1342C>A	c.(1342-1344)CGC>AGC	p.R448S		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	448					aldosterone biosynthetic process|oxidation-reduction process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|renal water homeostasis|sodium ion homeostasis|xenobiotic metabolic process	mitochondrial inner membrane	corticosterone 18-monooxygenase activity|electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									0.162963	43.862696	58.440538	22	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143994002	143994002	4311	8	G	T	T	T	494	38	CYP11B2	1	1
NFKBIL2	4796	broad.mit.edu	37	8	145657761	145657761	+	Silent	SNP	G	A	A	rs34599999	byFrequency;by1000genomes	TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145657761G>A	uc011llg.1	-	c.3642C>T	c.(3640-3642)CCC>CCT	p.P1214P		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1214					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)											0.142857	5.310254	7.891839	3	18	KEEP	---	---	---	---	capture		Silent	SNP	145657761	145657761	10782	8	G	A	A	A	496	39	NFKBIL2	1	1
DOK2	9046	broad.mit.edu	37	8	21768283	21768283	+	Silent	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:21768283C>G	uc003wzx.1	-	c.519G>C	c.(517-519)CGG>CGC	p.R173R	DOK2_uc003wzy.1_Silent_p.R173R|DOK2_uc003wzz.1_Silent_p.R19R|DOK2_uc010lth.1_Silent_p.R19R	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	173	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)										0.3	8.820436	9.178221	3	7	KEEP	---	---	---	---	capture		Silent	SNP	21768283	21768283	4881	8	C	G	G	G	275	22	DOK2	3	3
ADRA1A	148	broad.mit.edu	37	8	26721658	26721658	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:26721658C>G	uc003xfc.1	-	c.829G>C	c.(829-831)GTG>CTG	p.V277L	ADRA1A_uc010lul.1_Missense_Mutation_p.V277L|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.V277L|ADRA1A_uc010lum.1_Missense_Mutation_p.V277L|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.V277L|ADRA1A_uc003xfh.1_Missense_Mutation_p.V277L	NM_033303	NP_150646	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 2	277	Helical; Name=6; (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			ovary(1)|breast(1)|skin(1)	3		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)									0.181818	10.687273	12.778834	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26721658	26721658	335	8	C	G	G	G	247	19	ADRA1A	3	3
CSMD1	64478	broad.mit.edu	37	8	2808659	2808659	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2808659G>T	uc011kwk.1	-	c.10181C>A	c.(10180-10182)TCG>TAG	p.S3394*	CSMD1_uc011kwj.1_Nonsense_Mutation_p.S2708*|CSMD1_uc010lrg.2_Nonsense_Mutation_p.S1285*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3394	Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.326389	142.474509	146.325142	47	97	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2808659	2808659	4085	8	G	T	T	T	481	37	CSMD1	5	1
CSPP1	79848	broad.mit.edu	37	8	68030483	68030483	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68030483G>C	uc003xxi.2	+	c.1587G>C	c.(1585-1587)AGG>AGC	p.R529S	CSPP1_uc003xxg.1_Missense_Mutation_p.R521S|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.2_Missense_Mutation_p.R494S|CSPP1_uc003xxk.2_Missense_Mutation_p.R200S	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	529	Pro-rich.					microtubule|microtubule organizing center|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)							669				0.243421	344.797503	372.155294	111	345	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68030483	68030483	4103	8	G	C	C	C	529	41	CSPP1	3	3
PRDM14	63978	broad.mit.edu	37	8	70981552	70981552	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70981552G>T	uc003xym.2	-	c.544C>A	c.(544-546)CCC>ACC	p.P182T		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			NSCLC(129;99 1813 5906 40656 46114)								0.285714	9.893098	10.470741	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70981552	70981552	12897	8	G	T	T	T	533	41	PRDM14	2	2
TRPA1	8989	broad.mit.edu	37	8	72968044	72968044	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72968044C>G	uc003xza.2	-	c.1241G>C	c.(1240-1242)TGT>TCT	p.C414S		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	414	ANK 10.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)									0.17931	68.85825	82.887993	26	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72968044	72968044	17128	8	C	G	G	G	221	17	TRPA1	3	3
HNF4G	3174	broad.mit.edu	37	8	76452274	76452274	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:76452274C>A	uc003yar.2	+	c.47C>A	c.(46-48)ACT>AAT	p.T16N	HNF4G_uc003yap.1_Intron|HNF4G_uc003yaq.2_Intron	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	Error:Variant_position_missing_in_Q14541_after_alignment					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)											0.201923	160.338214	186.098899	63	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76452274	76452274	7546	8	C	A	A	A	260	20	HNF4G	2	2
ZFHX4	79776	broad.mit.edu	37	8	77763833	77763833	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77763833A>T	uc003yav.2	+	c.4541A>T	c.(4540-4542)CAC>CTC	p.H1514L	ZFHX4_uc003yau.1_Missense_Mutation_p.H1559L|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1514L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1514	C2H2-type 12.				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)											0.285141	216.925507	227.23946	71	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77763833	77763833	18223	8	A	T	T	T	78	6	ZFHX4	3	3
PSKH2	85481	broad.mit.edu	37	8	87076322	87076322	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87076322C>A	uc011lfy.1	-	c.724G>T	c.(724-726)GCA>TCA	p.A242S		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	242	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3			STAD - Stomach adenocarcinoma(118;0.129)							100				0.240964	55.257211	60.338763	20	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87076322	87076322	13118	8	C	A	A	A	325	25	PSKH2	2	2
DCAF4L2	138009	broad.mit.edu	37	8	88885855	88885855	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88885855G>T	uc003ydz.2	-	c.345C>A	c.(343-345)TAC>TAA	p.Y115*		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	115										ovary(1)	1														0.330645	246.585057	252.87897	82	166	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88885855	88885855	4443	8	G	T	T	T	568	44	DCAF4L2	5	2
RUNX1T1	862	broad.mit.edu	37	8	93004039	93004039	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:93004039G>T	uc011lgi.1	-	c.852C>A	c.(850-852)GGC>GGA	p.G284G	RUNX1T1_uc003yfc.1_Silent_p.G246G|RUNX1T1_uc003yfd.2_Silent_p.G273G|RUNX1T1_uc003yfe.1_Silent_p.G236G|RUNX1T1_uc010mao.2_Silent_p.G246G|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Silent_p.G236G	NM_175636	NP_783554	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	273					generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(11;0.0141)						p.G246G(NCIH596-Tumor)|p.G246G(OAW42-Tumor)	213				0.337278	168.520436	172.47956	57	112	KEEP	---	---	---	---	capture		Silent	SNP	93004039	93004039	14227	8	G	T	T	T	535	42	RUNX1T1	2	2
RAD54B	25788	broad.mit.edu	37	8	95412526	95412526	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95412526C>T	uc003ygk.2	-	c.1110G>A	c.(1108-1110)TGG>TGA	p.W370*	RAD54B_uc010may.1_Nonsense_Mutation_p.W177*|RAD54B_uc003ygl.1_Non-coding_Transcript	NM_012415	NP_036547	Q9Y620	RA54B_HUMAN	RAD54 homolog B	370	Helicase ATP-binding.				mitotic recombination|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA helicase activity|RNA helicase activity			kidney(2)|lung(1)	3	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)											0.350797	480.114497	488.737743	154	285	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	95412526	95412526	13452	8	C	T	T	T	390	30	RAD54B	5	2
PGCP	10404	broad.mit.edu	37	8	97797421	97797421	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97797421G>T	uc003yhw.2	+	c.296G>T	c.(295-297)GGG>GTG	p.G99V	PGCP_uc010mbe.2_Missense_Mutation_p.G99V	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	99					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity				0	Breast(36;1.86e-05)													0.439114	378.376915	379.254228	119	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97797421	97797421	12209	8	G	T	T	T	559	43	PGCP	2	2
PGCP	10404	broad.mit.edu	37	8	97892084	97892084	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97892084A>T	uc003yhw.2	+	c.700A>T	c.(700-702)ATT>TTT	p.I234F	PGCP_uc010mbe.2_Missense_Mutation_p.I234F	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	234					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity				0	Breast(36;1.86e-05)													0.415553	1123.035394	1128.15255	342	481	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97892084	97892084	12209	8	A	T	T	T	208	16	PGCP	3	3
TGFBR1	7046	broad.mit.edu	37	9	101904899	101904899	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101904899C>T	uc004azc.2	+	c.887C>T	c.(886-888)ACA>ATA	p.T296I	TGFBR1_uc004azd.2_Missense_Mutation_p.T219I|TGFBR1_uc011lvc.1_Missense_Mutation_p.T227I	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	296	Protein kinase.|Cytoplasmic (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway	transforming growth factor beta receptor complex	ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)								168				0.089431	8.435517	50.376426	22	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101904899	101904899	16349	9	C	T	T	T	221	17	TGFBR1	2	2
ALG2	85365	broad.mit.edu	37	9	101980430	101980430	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101980430G>A	uc004azf.2	-	c.1037C>T	c.(1036-1038)TCG>TTG	p.S346L	ALG2_uc004azg.2_Missense_Mutation_p.S253L	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	alpha-1,3-mannosyltransferase ALG2	346					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|protein anchor|protein heterodimerization activity|protein N-terminus binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0559)												0.149254	19.20749	27.111717	10	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101980430	101980430	522	9	G	A	A	A	481	37	ALG2	1	1
OR13F1	138805	broad.mit.edu	37	9	107267441	107267441	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107267441G>T	uc011lvm.1	+	c.898G>T	c.(898-900)GCC>TCC	p.A300S		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.085106	0.96076	9.169759	4	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107267441	107267441	11347	9	G	T	T	T	546	42	OR13F1	2	2
OR13C8	138802	broad.mit.edu	37	9	107332060	107332060	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107332060G>T	uc011lvo.1	+	c.612G>T	c.(610-612)CTG>CTT	p.L204L		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.221865	177.107496	199.242848	69	242	KEEP	---	---	---	---	capture		Silent	SNP	107332060	107332060	11344	9	G	T	T	T	574	45	OR13C8	2	2
SVEP1	79987	broad.mit.edu	37	9	113221313	113221313	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113221313C>A	uc010mtz.2	-	c.3403G>T	c.(3403-3405)GCA>TCA	p.A1135S	SVEP1_uc010mua.1_Missense_Mutation_p.A1135S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1135					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.12304	146.530403	261.834298	102	727	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113221313	113221313	15940	9	C	A	A	A	325	25	SVEP1	2	2
OR2K2	26248	broad.mit.edu	37	9	114090287	114090287	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114090287G>T	uc011lwp.1	-	c.427C>A	c.(427-429)CGG>AGG	p.R143R		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K,	172	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.529508	1132.772053	1133.235016	323	287	KEEP	---	---	---	---	capture		Silent	SNP	114090287	114090287	11411	9	G	T	T	T	519	40	OR2K2	1	1
AKNA	80709	broad.mit.edu	37	9	117139580	117139580	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117139580C>A	uc004biq.3	-	c.507G>T	c.(505-507)AGG>AGT	p.R169S	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.R88S|AKNA_uc004bir.3_Missense_Mutation_p.R169S|AKNA_uc004bis.3_Missense_Mutation_p.R169S|AKNA_uc010mve.2_Missense_Mutation_p.R50S|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.R169S|AKNA_uc004biw.1_Missense_Mutation_p.R169S	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6														0.285714	64.562724	68.025649	24	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117139580	117139580	466	9	C	A	A	A	285	22	AKNA	2	2
PAPPA	5069	broad.mit.edu	37	9	118969862	118969862	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:118969862G>A	uc004bjn.2	+	c.1606G>A	c.(1606-1608)GAG>AAG	p.E536K	PAPPA_uc011lxp.1_Missense_Mutation_p.E329K|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	536	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|pancreas(1)	5										611				0.355224	367.225627	373.415201	119	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118969862	118969862	11849	9	G	A	A	A	533	41	PAPPA	2	2
PAPPA	5069	broad.mit.edu	37	9	118982315	118982315	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:118982315C>A	uc004bjn.2	+	c.2018C>A	c.(2017-2019)GCG>GAG	p.A673E	PAPPA_uc011lxp.1_Missense_Mutation_p.A368E|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	673					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|pancreas(1)	5										611				0.390625	549.235127	553.925335	175	273	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118982315	118982315	11849	9	C	A	A	A	351	27	PAPPA	1	1
CDK5RAP2	55755	broad.mit.edu	37	9	123170627	123170627	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123170627C>A	uc004bkf.2	-	c.4724G>T	c.(4723-4725)AGA>ATA	p.R1575I	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R584I|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R860I|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R1575I|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R840I|CDK5RAP2_uc011lxx.1_Non-coding_Transcript|CDK5RAP2_uc011lxy.1_Non-coding_Transcript|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R840I|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R840I|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R1345I|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R1342I	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1575					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|promoter binding			ovary(2)|lung(1)|skin(1)	4														0.103896	39.79508	99.929032	40	345	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123170627	123170627	3275	9	C	A	A	A	416	32	CDK5RAP2	2	2
CIZ1	25792	broad.mit.edu	37	9	130941545	130941545	+	Missense_Mutation	SNP	C	G	G	rs111464781		TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130941545C>G	uc011mas.1	-	c.1031G>C	c.(1030-1032)CGG>CCG	p.R344P	CIZ1_uc004btr.2_Missense_Mutation_p.R314P|CIZ1_uc004bts.2_Missense_Mutation_p.R285P|CIZ1_uc011maq.1_Missense_Mutation_p.R309P|CIZ1_uc004btu.2_Missense_Mutation_p.R290P|CIZ1_uc004btt.2_Missense_Mutation_p.R314P|CIZ1_uc011mar.1_Missense_Mutation_p.R213P|CIZ1_uc004btw.2_Missense_Mutation_p.R314P|CIZ1_uc004btv.2_Missense_Mutation_p.R314P|CIZ1_uc004btx.2_Missense_Mutation_p.R290P	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	314	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4														0.28	41.433501	43.60626	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130941545	130941545	3577	9	C	G	G	G	299	23	CIZ1	3	3
SETX	23064	broad.mit.edu	37	9	135206746	135206746	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135206746C>T	uc004cbk.2	-	c.928G>A	c.(928-930)GAT>AAT	p.D310N	SETX_uc004cbj.2_5'Flank|SETX_uc010mzt.2_5'Flank	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	310					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA binding|DNA helicase activity			ovary(2)	2		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)										0.253333	159.565603	171.993965	57	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135206746	135206746	14630	9	C	T	T	T	390	30	SETX	2	2
KIAA0649	9858	broad.mit.edu	37	9	138378101	138378101	+	Missense_Mutation	SNP	T	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138378101T>G	uc004cfr.1	+	c.1745T>G	c.(1744-1746)CTC>CGC	p.L582R		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	582						nucleolus	protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)										0.411765	19.21007	19.328237	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138378101	138378101	8494	9	T	G	G	G	702	54	KIAA0649	4	4
CACNA1B	774	broad.mit.edu	37	9	140972591	140972591	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140972591G>T	uc004cog.2	+	c.4975G>T	c.(4975-4977)GAG>TAG	p.E1659*	CACNA1B_uc004coi.2_Nonsense_Mutation_p.E871*|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Nonsense_Mutation_p.E14*	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1659	IV.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)									0.222222	26.530207	29.72129	10	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140972591	140972591	2655	9	G	T	T	T	481	37	CACNA1B	5	1
ADAMTSL1	92949	broad.mit.edu	37	9	18639359	18639359	+	Missense_Mutation	SNP	A	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18639359A>C	uc003zne.3	+	c.784A>C	c.(784-786)AAA>CAA	p.K262Q	ADAMTSL1_uc003znb.2_Missense_Mutation_p.K262Q|ADAMTSL1_uc003znc.3_Missense_Mutation_p.K262Q	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	262						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|lung(1)	4				GBM - Glioblastoma multiforme(50;1.29e-17)										0.217391	116.298911	129.847975	40	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18639359	18639359	275	9	A	C	C	C	65	5	ADAMTSL1	4	4
FRMPD1	22844	broad.mit.edu	37	9	37746032	37746032	+	Missense_Mutation	SNP	A	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37746032A>T	uc004aag.1	+	c.4003A>T	c.(4003-4005)AGC>TGC	p.S1335C	FRMPD1_uc004aah.1_Missense_Mutation_p.S1335C	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1335						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7				GBM - Glioblastoma multiforme(29;0.00655)										0.159341	64.458547	84.576233	29	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37746032	37746032	6307	9	A	T	T	T	91	7	FRMPD1	3	3
FAM75A3	727830	broad.mit.edu	37	9	40702903	40702903	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40702903C>T	uc010mmj.2	+	c.560C>T	c.(559-561)CCA>CTA	p.P187L		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	hypothetical protein LOC727830	187	Pro-rich.					integral to membrane				ovary(2)	2				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.041284	-32.725785	16.628064	9	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40702903	40702903	5845	9	C	T	T	T	273	21	FAM75A3	2	2
INSL4	3641	broad.mit.edu	37	9	5231684	5231684	+	Missense_Mutation	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5231684C>T	uc003ziy.2	+	c.161C>T	c.(160-162)CCA>CTA	p.P54L		NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor	54					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)										0.529762	287.371947	287.500418	89	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5231684	5231684	8069	9	C	T	T	T	273	21	INSL4	2	2
TMEM2	23670	broad.mit.edu	37	9	74327059	74327059	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74327059C>A	uc011lsa.1	-	c.2709G>T	c.(2707-2709)ATG>ATT	p.M903I	TMEM2_uc010mos.2_Missense_Mutation_p.M840I|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	903						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)										0.21097	117.481147	135.839388	50	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74327059	74327059	16656	9	C	A	A	A	377	29	TMEM2	2	2
TMC1	117531	broad.mit.edu	37	9	75387409	75387409	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:75387409G>A	uc004aiz.1	+	c.822G>A	c.(820-822)CCG>CCA	p.P274P	TMC1_uc010moz.1_Silent_p.P232P|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.P128P|TMC1_uc010mpa.1_Silent_p.P128P	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	274	Helical; (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						Pancreas(75;173 1345 14232 34245 43413)								0.255294	569.382087	615.550168	217	633	KEEP	---	---	---	---	capture		Silent	SNP	75387409	75387409	16514	9	G	A	A	A	483	38	TMC1	1	1
TRPM6	140803	broad.mit.edu	37	9	77378052	77378052	+	Splice_Site_SNP	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77378052T>C	uc004ajl.1	-	c.3537_splice	c.e26-1	p.R1179_splice	TRPM6_uc004ajk.1_Splice_Site_SNP_p.R1174_splice|TRPM6_uc010mpb.1_Splice_Site_SNP|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Splice_Site_SNP_p.R135_splice	NM_017662	NP_060132			transient receptor potential cation channel,						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				0.341317	198.233213	201.94511	57	110	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	77378052	77378052	17141	9	T	C	C	C	689	53	TRPM6	5	4
TRPM6	140803	broad.mit.edu	37	9	77423091	77423091	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77423091C>A	uc004ajl.1	-	c.1498_splice	c.e14-1	p.H500_splice	TRPM6_uc004ajk.1_Splice_Site_SNP_p.H495_splice|TRPM6_uc010mpb.1_Splice_Site_SNP|TRPM6_uc010mpc.1_Splice_Site_SNP_p.H500_splice|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132			transient receptor potential cation channel,						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				0.292135	154.924887	161.814143	52	126	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	77423091	77423091	17141	9	C	A	A	A	364	28	TRPM6	5	2
FRMD3	257019	broad.mit.edu	37	9	85905627	85905627	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:85905627C>G	uc004ams.1	-	c.1086G>C	c.(1084-1086)CAG>CAC	p.Q362H	FRMD3_uc004amr.1_Missense_Mutation_p.Q348H	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	362						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2														0.267606	122.085791	129.009849	38	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85905627	85905627	6300	9	C	G	G	G	415	32	FRMD3	3	3
C9orf64	84267	broad.mit.edu	37	9	86559805	86559805	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86559805T>A	uc004anb.2	-	c.697A>T	c.(697-699)AGT>TGT	p.S233C	C9orf64_uc004anc.2_Missense_Mutation_p.S92C	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	233											0														0.147727	28.716483	39.200813	13	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86559805	86559805	2605	9	T	A	A	A	715	55	C9orf64	3	3
ZMAT1	84460	broad.mit.edu	37	X	101152935	101152935	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101152935C>A	uc011mrl.1	-	c.411G>T	c.(409-411)CAG>CAT	p.Q137H	ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin type 1 isoform 1	Error:Variant_position_missing_in_A7MD47_after_alignment						nucleus	zinc ion binding			ovary(1)	1														0.68544	1778.181373	1800.445671	499	229	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101152935	101152935	18282	23	C	A	A	A	259	20	ZMAT1	2	2
ZMAT1	84460	broad.mit.edu	37	X	101153123	101153123	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101153123T>A	uc011mrl.1	-	c.299A>T	c.(298-300)AAG>ATG	p.K100M	ZMAT1_uc004ein.2_De_novo_Start_OutOfFrame|ZMAT1_uc011mrm.1_De_novo_Start_InFrame	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin type 1 isoform 1	Error:Variant_position_missing_in_A7MD47_after_alignment						nucleus	zinc ion binding			ovary(1)	1														0.399267	349.517719	351.941684	109	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101153123	101153123	18282	23	T	A	A	A	728	56	ZMAT1	3	3
TEX13A	56157	broad.mit.edu	37	X	104465059	104465059	+	Missense_Mutation	SNP	G	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:104465059G>C	uc004ema.2	-	c.23C>G	c.(22-24)CCC>CGC	p.P8R	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P8R	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	8						intracellular	zinc ion binding			ovary(2)	2														0.711864	141.17023	143.543116	42	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104465059	104465059	16303	23	G	C	C	C	559	43	TEX13A	3	3
KIAA1210	57481	broad.mit.edu	37	X	118284406	118284406	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118284406C>A	uc004era.3	-	c.137G>T	c.(136-138)TGT>TTT	p.C46F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	46										ovary(4)|skin(1)	5														0.594595	155.713943	156.292266	44	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118284406	118284406	8522	23	C	A	A	A	221	17	KIAA1210	2	2
THOC2	57187	broad.mit.edu	37	X	122755273	122755273	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:122755273G>A	uc004etu.2	-	c.3951C>T	c.(3949-3951)ACC>ACT	p.T1317T	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Silent_p.T138T	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1317	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3														0.580717	897.44954	899.976648	259	187	KEEP	---	---	---	---	capture		Silent	SNP	122755273	122755273	16393	23	G	A	A	A	600	47	THOC2	2	2
FRMPD4	9758	broad.mit.edu	37	X	12734443	12734443	+	Missense_Mutation	SNP	A	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12734443A>G	uc004cuz.1	+	c.1865A>G	c.(1864-1866)TAC>TGC	p.Y622C	FRMPD4_uc011mij.1_Missense_Mutation_p.Y614C	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	622					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13														0.458333	159.696494	159.84092	44	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12734443	12734443	6309	23	A	G	G	G	182	14	FRMPD4	4	4
OR13H1	347468	broad.mit.edu	37	X	130678094	130678094	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130678094G>T	uc011muw.1	+	c.47G>T	c.(46-48)GGC>GTC	p.G16V	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Acute lymphoblastic leukemia(192;0.000636)													0.283493	672.160416	707.271193	237	599	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130678094	130678094	11349	23	G	T	T	T	546	42	OR13H1	2	2
GPC4	2239	broad.mit.edu	37	X	132439938	132439938	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132439938C>A	uc004exc.1	-	c.1017G>T	c.(1015-1017)CAG>CAT	p.Q339H	GPC4_uc011mvg.1_Missense_Mutation_p.Q269H	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	339					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.412186	727.431651	731.194359	230	328	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132439938	132439938	6874	23	C	A	A	A	311	24	GPC4	2	2
GPR112	139378	broad.mit.edu	37	X	135428122	135428122	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135428122G>T	uc004ezu.1	+	c.2257G>T	c.(2257-2259)GAA>TAA	p.E753*	GPR112_uc010nsb.1_Nonsense_Mutation_p.E548*|GPR112_uc010nsc.1_Nonsense_Mutation_p.E520*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	753	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)								p.E753K(SNUC5-Tumor)	487				0.693053	1467.674435	1488.227087	429	190	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	135428122	135428122	6903	23	G	T	T	T	585	45	GPR112	5	2
CD40LG	959	broad.mit.edu	37	X	135730460	135730460	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135730460C>G	uc004faa.2	+	c.53C>G	c.(52-54)CCC>CGC	p.P18R	CD40LG_uc010nsd.2_Missense_Mutation_p.P18R|CD40LG_uc010nse.1_5'Flank	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	18	Cytoplasmic (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)					77				0.711217	1070.882254	1087.623541	298	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135730460	135730460	3144	23	C	G	G	G	286	22	CD40LG	3	3
FGF13	2258	broad.mit.edu	37	X	137715045	137715045	+	Missense_Mutation	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:137715045C>G	uc004faq.2	-	c.734G>C	c.(733-735)GGA>GCA	p.G245A	FGF13_uc004fam.2_Missense_Mutation_p.G235A|FGF13_uc004fan.2_Missense_Mutation_p.G182A|FGF13_uc011mwi.1_Missense_Mutation_p.G216A|FGF13_uc004far.2_Missense_Mutation_p.G216A|FGF13_uc011mwj.1_Missense_Mutation_p.G245A|FGF13_uc011mwk.1_Missense_Mutation_p.G189A	NM_001139502	NP_001132974	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 3	235					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(192;0.000127)													0.657092	1372.129404	1384.278738	366	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137715045	137715045	6079	23	C	G	G	G	390	30	FGF13	3	3
MAGEC3	139081	broad.mit.edu	37	X	140969330	140969330	+	Silent	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140969330G>T	uc011mwp.1	+	c.657G>T	c.(655-657)ACG>ACT	p.T219T		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	219	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.271768	296.462224	314.263743	103	276	KEEP	---	---	---	---	capture		Silent	SNP	140969330	140969330	9563	23	G	T	T	T	496	39	MAGEC3	1	1
MAGEC3	139081	broad.mit.edu	37	X	140985421	140985421	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140985421C>A	uc011mwp.1	+	c.1735C>A	c.(1735-1737)CAG>AAG	p.Q579K	MAGEC3_uc004fbs.2_Nonsense_Mutation_p.S328*|MAGEC3_uc010nsj.2_Nonsense_Mutation_p.S328*	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	579	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.646707	360.235955	363.400623	108	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140985421	140985421	9563	23	C	A	A	A	377	29	MAGEC3	2	2
SPANXN3	139067	broad.mit.edu	37	X	142596702	142596702	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142596702T>C	uc004fbw.2	-	c.368A>G	c.(367-369)CAG>CGG	p.Q123R		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	123										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.402275	1237.761859	1245.842937	389	578	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142596702	142596702	15500	23	T	C	C	C	715	55	SPANXN3	4	4
PASD1	139135	broad.mit.edu	37	X	150840994	150840994	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150840994G>T	uc004fev.3	+	c.1777G>T	c.(1777-1779)GTA>TTA	p.V593L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	593						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.34375	288.242053	293.753586	88	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150840994	150840994	11888	23	G	T	T	T	520	40	PASD1	1	1
CNGA2	1260	broad.mit.edu	37	X	150912077	150912077	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150912077G>A	uc004fey.1	+	c.1102G>A	c.(1102-1104)GTG>ATG	p.V368M		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	368	Helical; Name=H5; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.698997	741.492566	752.068303	209	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150912077	150912077	3735	23	G	A	A	A	520	40	CNGA2	1	1
HCFC1	3054	broad.mit.edu	37	X	153227748	153227748	+	Missense_Mutation	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153227748G>A	uc004fjp.2	-	c.722C>T	c.(721-723)ACG>ATG	p.T241M		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	241	Kelch 4.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.2	7.416037	8.671774	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153227748	153227748	7273	23	G	A	A	A	520	40	HCFC1	1	1
EMD	2010	broad.mit.edu	37	X	153609287	153609287	+	Silent	SNP	G	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153609287G>A	uc004fkl.2	+	c.495G>A	c.(493-495)ACG>ACA	p.T165T		NM_000117	NP_000108	P50402	EMD_HUMAN	emerin	165	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)													0.285714	6.347153	6.63553	2	5	KEEP	---	---	---	---	capture		Silent	SNP	153609287	153609287	5279	23	G	A	A	A	483	38	EMD	1	1
CLIC2	1193	broad.mit.edu	37	X	154509358	154509358	+	Splice_Site_SNP	SNP	C	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154509358C>G	uc004fnf.2	-	c.294_splice	c.e4-1	p.R98_splice	CLIC2_uc010nvj.1_Splice_Site_SNP_p.R116_splice	NM_001289	NP_001280			chloride intracellular channel 2						cell redox homeostasis|signal transduction	chloride channel complex|cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity|voltage-gated chloride channel activity			large_intestine(1)|ovary(1)|skin(1)	3	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					Melanoma(108;581 1592 2289 21669 28822)								0.423913	139.612462	140.076811	39	53	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	154509358	154509358	3664	23	C	G	G	G	312	24	CLIC2	5	3
DDX53	168400	broad.mit.edu	37	X	23018528	23018528	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:23018528C>T	uc004daj.2	+	c.354C>T	c.(352-354)AGC>AGT	p.S118S		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|kidney(1)	2														0.452632	135.013531	135.199253	43	52	KEEP	---	---	---	---	capture		Silent	SNP	23018528	23018528	4542	23	C	T	T	T	363	28	DDX53	2	2
ARSH	347527	broad.mit.edu	37	X	2936699	2936699	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2936699G>T	uc011mhj.1	+	c.889G>T	c.(889-891)GAT>TAT	p.D297Y		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	297						integral to membrane	arylsulfatase activity|metal ion binding			lung(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)												0.454545	29.24636	29.286079	10	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2936699	2936699	1011	23	G	T	T	T	533	41	ARSH	2	2
MAGEB3	4114	broad.mit.edu	37	X	30254905	30254905	+	Silent	SNP	C	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30254905C>T	uc004dca.1	+	c.864C>T	c.(862-864)GTC>GTT	p.V288V		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	288	MAGE.										0														0.439394	91.047329	91.261306	29	37	KEEP	---	---	---	---	capture		Silent	SNP	30254905	30254905	9558	23	C	T	T	T	379	30	MAGEB3	2	2
MXRA5	25878	broad.mit.edu	37	X	3228247	3228247	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3228247T>A	uc004crg.3	-	c.7997A>T	c.(7996-7998)CAG>CTG	p.Q2666L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2666	Ig-like C2-type 11.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.428571	48.018096	48.174074	15	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3228247	3228247	10397	23	T	A	A	A	715	55	MXRA5	3	3
MXRA5	25878	broad.mit.edu	37	X	3248432	3248432	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3248432G>T	uc004crg.3	-	c.336C>A	c.(334-336)TAC>TAA	p.Y112*		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	112	LRR 3.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.2	10.487979	12.162278	4	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3248432	3248432	10397	23	G	T	T	T	620	48	MXRA5	5	2
RBM10	8241	broad.mit.edu	37	X	47032551	47032551	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47032551G>T	uc004dhi.2	+	c.652G>T	c.(652-654)GGC>TGC	p.G218C	RBM10_uc004dhe.1_Missense_Mutation_p.G143C|RBM10_uc004dhf.2_Missense_Mutation_p.G153C|RBM10_uc004dhg.2_Missense_Mutation_p.G76C|RBM10_uc004dhh.2_Missense_Mutation_p.G153C|RBM10_uc010nhq.2_Missense_Mutation_p.G76C	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	153	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3						Melanoma(171;120 2705 19495 39241)								0.408451	92.663692	93.182967	29	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47032551	47032551	13572	23	G	T	T	T	507	39	RBM10	1	1
ARAF	369	broad.mit.edu	37	X	47426307	47426307	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47426307G>T	uc011mlq.1	+	c.724G>T	c.(724-726)GAT>TAT	p.D242Y	ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_Missense_Mutation_p.D108Y|ARAF_uc011mlp.1_Missense_Mutation_p.D242Y|ARAF_uc004dic.1_Missense_Mutation_p.D23Y	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	242					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation|protein phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(1)|ovary(1)	5					Adenosine triphosphate(DB00171)					119				0.307692	22.289174	23.14693	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47426307	47426307	848	23	G	T	T	T	585	45	ARAF	2	2
TRO	7216	broad.mit.edu	37	X	54955191	54955191	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54955191G>T	uc004dtq.2	+	c.2034G>T	c.(2032-2034)TGG>TGT	p.W678C	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.W209C|TRO_uc004dtw.2_Missense_Mutation_p.W281C|TRO_uc004dtx.2_Missense_Mutation_p.W61C	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	678					embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1														0.447368	51.469032	51.560929	17	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54955191	54955191	17125	23	G	T	T	T	533	41	TRO	2	2
PJA1	64219	broad.mit.edu	37	X	68381607	68381607	+	Missense_Mutation	SNP	T	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:68381607T>A	uc004dxh.2	-	c.1475A>T	c.(1474-1476)GAT>GTT	p.D492V	PJA1_uc011mpi.1_Missense_Mutation_p.D210V|PJA1_uc004dxg.2_Missense_Mutation_p.D304V|PJA1_uc004dxi.2_Missense_Mutation_p.D437V	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	492							zinc ion binding				0														0.446809	69.169638	69.28544	21	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68381607	68381607	12385	23	T	A	A	A	650	50	PJA1	3	3
KIAA2022	340533	broad.mit.edu	37	X	73961382	73961382	+	Missense_Mutation	SNP	T	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73961382T>C	uc004eby.2	-	c.3010A>G	c.(3010-3012)AGT>GGT	p.S1004G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1004					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.191667	124.012937	145.323188	46	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73961382	73961382	8580	23	T	C	C	C	728	56	KIAA2022	4	4
ATP7A	538	broad.mit.edu	37	X	77245130	77245130	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77245130G>T	uc004ecx.3	+	c.1012G>T	c.(1012-1014)GTA>TTA	p.V338L	ATP7A_uc004ecw.2_Missense_Mutation_p.V338L	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	338	HMA 3.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0														0.578947	383.477823	384.510043	110	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77245130	77245130	1209	23	G	T	T	T	624	48	ATP7A	2	2
PCDH11X	27328	broad.mit.edu	37	X	91131866	91131866	+	Missense_Mutation	SNP	G	T	T			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91131866G>T	uc004efk.1	+	c.627G>T	c.(625-627)AGG>AGT	p.R209S	PCDH11X_uc004efl.1_Missense_Mutation_p.R209S|PCDH11X_uc004efo.1_Missense_Mutation_p.R209S|PCDH11X_uc010nmv.1_Missense_Mutation_p.R209S|PCDH11X_uc004efm.1_Missense_Mutation_p.R209S|PCDH11X_uc004efn.1_Missense_Mutation_p.R209S|PCDH11X_uc004efh.1_Missense_Mutation_p.R209S|PCDH11X_uc004efj.1_Missense_Mutation_p.R209S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	209	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.697987	1067.586847	1083.257473	312	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91131866	91131866	11928	23	G	T	T	T	555	43	PCDH11X	2	2
PCDH11X	27328	broad.mit.edu	37	X	91873373	91873373	+	Missense_Mutation	SNP	C	A	A			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91873373C>A	uc004efk.1	+	c.3478C>A	c.(3478-3480)CAT>AAT	p.H1160N	PCDH11X_uc004efl.1_Missense_Mutation_p.H1150N|PCDH11X_uc004efo.1_Missense_Mutation_p.H1123N|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.H1152N|PCDH11X_uc004efn.1_Missense_Mutation_p.H1142N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1160	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.645	423.123525	426.827078	129	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91873373	91873373	11928	23	C	A	A	A	377	29	PCDH11X	2	2
LRRC4C	57689	broad.mit.edu	37	11	40137020	40137020	+	Frame_Shift_Del	DEL	C	-	-			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:40137020_40137020delC	uc001mxa.1	-	c.823_823delG	c.(823-825)GCAfs	p.A275fs	LRRC4C_uc001mxc.1_Frame_Shift_Del_p.A271fs|LRRC4C_uc001mxd.1_Frame_Shift_Del_p.A271fs|LRRC4C_uc001mxb.1_Frame_Shift_Del_p.A271fs	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	275	LRR 9.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5		all_lung(304;0.0575)|Lung NSC(402;0.138)												0.36			240	421		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	40137020	40137020	9383	11	C	-	-	-	338	26	LRRC4C	5	5
OR56A4	120793	broad.mit.edu	37	11	6023930	6023930	+	Frame_Shift_Del	DEL	G	-	-			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6023930_6023930delG	uc010qzv.1	-	c.449_449delC	c.(448-450)CCAfs	p.P150fs		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.31			62	138		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	6023930	6023930	11545	11	G	-	-	-	611	47	OR56A4	5	5
DCHS1	8642	broad.mit.edu	37	11	6643491	6643491	+	Frame_Shift_Del	DEL	C	-	-			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6643491_6643491delC	uc001mem.1	-	c.9416_9416delG	c.(9415-9417)GGCfs	p.G3139fs	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	3139	Cytoplasmic (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)										0.57			4	3		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	6643491	6643491	4458	11	C	-	-	-	338	26	DCHS1	5	5
OAS1	4938	broad.mit.edu	37	12	113369716	113369716	+	Frame_Shift_Del	DEL	A	-	-	rs112941238		TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113369716_113369716delA	uc009zwf.2	+	c.1069_1069delA	c.(1069-1071)ACCfs	p.T357fs		NM_002534	NP_002525	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 2	Error:Variant_position_missing_in_P00973_after_alignment					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2														0.88			35	5		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	113369716	113369716	11204	12	A	-	-	-	170	14	OAS1	5	5
TP53	7157	broad.mit.edu	37	17	7577594	7577595	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577594_7577595delAC	uc002gim.2	-	c.686_687delGT	c.(685-687)TGTfs	p.C229fs	TP53_uc002gig.1_Frame_Shift_Del_p.C229fs|TP53_uc002gih.2_Frame_Shift_Del_p.C229fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.C97fs|TP53_uc010cng.1_Frame_Shift_Del_p.C97fs|TP53_uc002gii.1_Frame_Shift_Del_p.C97fs|TP53_uc010cnh.1_Frame_Shift_Del_p.C229fs|TP53_uc010cni.1_Frame_Shift_Del_p.C229fs|TP53_uc002gij.2_Frame_Shift_Del_p.C229fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.C136fs|TP53_uc002gio.2_Frame_Shift_Del_p.C97fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	229	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> Y (in sporadic cancers; somatic mutation).|C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> S (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.C229fs*10(10)|p.0?(6)|p.C229*(2)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C229S(1)|p.T230fs*9(1)|p.C229fs*1(1)|p.C229_T230insX(1)|p.C229C(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.S227_I232delSDCTTI(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.C229fs(IGR39-Tumor)|p.C229fs(IGR37-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.36			99	175		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	7577594	7577595	16923	17	AC	-	-	-	180	14	TP53	5	5
SPATA17	128153	broad.mit.edu	37	1	217955584	217955584	+	Frame_Shift_Del	DEL	G	-	-			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:217955584_217955584delG	uc001hlh.1	+	c.792_792delG	c.(790-792)GTGfs	p.V264fs	SPATA17_uc009xdr.1_Non-coding_Transcript|SPATA17_uc001hli.2_Frame_Shift_Del_p.V264fs	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	264						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)										0.40			108	160		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	217955584	217955584	15510	1	G	-	-	-	600	47	SPATA17	5	5
PTPRA	5786	broad.mit.edu	37	20	2945550	2945550	+	Frame_Shift_Del	DEL	G	-	-			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2945550_2945550delG	uc010zqd.1	+	c.150_150delG	c.(148-150)ACGfs	p.T50fs	PTPRA_uc002whj.2_Frame_Shift_Del_p.T39fs|PTPRA_uc010zqb.1_Frame_Shift_Del_p.T39fs|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.2_Frame_Shift_Del_p.T39fs|PTPRA_uc002whl.2_Frame_Shift_Del_p.T39fs|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Frame_Shift_Del_p.T39fs	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	39	Extracellular (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity				0														0.41			93	136		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	2945550	2945550	13252	20	G	-	-	-	496	39	PTPRA	5	5
EMILIN1	11117	broad.mit.edu	37	2	27301937	27301938	+	Frame_Shift_Ins	INS	-	C	C			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27301937_27301938insC	uc002rii.3	+	c.4_5insC	c.(4-6)GCCfs	p.A2fs	EMILIN1_uc010eyq.1_Frame_Shift_Ins_p.A2fs	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	2					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	27301937	27301938	5285	2	-	C	C	C	546	42	EMILIN1	5	5
ZAN	7455	broad.mit.edu	37	7	100371476	100371477	+	Splice_Site_Ins	INS	-	G	G			TCGA-64-1676-01	TCGA-64-1676-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100371476_100371477insG	uc003uwj.2	+	c.5766_splice	c.e31+1	p.R1922_splice	ZAN_uc003uwk.2_Splice_Site_Ins_p.R1922_splice|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kke.1_Frame_Shift_Ins_p.F10fs	NM_003386	NP_003377			zonadhesin isoform 3						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.53			10	9		---	---	---	---	capture_indel		Splice_Site_Ins	INS	100371476	100371477	18096	7	-	G	G	G	832	64	ZAN	5	5
