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	Transcript_Exon	Transcript_Position	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	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_status	validation_method	validation_tumor_sample	validation_alt_allele
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1850628_1850636delAGCGGCAGG	uc001aij.2	-	1	105_113	c.69_77delCCTGCCGCT	c.(67-78)CTCCTGCCGCTG>CTG	p.23_26LLPL>L	TMEM52_uc001aii.2_5'Flank	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	transmembrane protein 52 precursor	23_26						integral to membrane					0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)														---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89607156	89607157	+	Intron	INS	-	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89607156_89607157insT	uc001dna.2	-						GBP2_uc001dmy.1_Intron	NM_207398	NP_997281			guanylate binding protein 4-like							integral to membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)														---	---	---	---
PTPN22	26191	broad.mit.edu	37	1	114401266	114401266	+	Intron	DEL	T	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114401266delT	uc001eds.2	-						uc001edv.1_Intron|PTPN22_uc009wgq.2_Intron|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Intron|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Intron	NM_015967	NP_057051			protein tyrosine phosphatase, non-receptor type						negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TBX15	6913	broad.mit.edu	37	1	119427228	119427229	+	3'UTR	INS	-	A	A	rs78460482		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119427228_119427229insA	uc001ehl.1	-	8					TBX15_uc009whj.1_3'UTR	NM_152380	NP_689593			T-box 15							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)														---	---	---	---
RGS2	5997	broad.mit.edu	37	1	192779562	192779563	+	Splice_Site	INS	-	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:192779562_192779563insT	uc001gsl.2	+	3	307	c.274_splice	c.e3+1	p.Y92_splice		NM_002923	NP_002914			regulator of G-protein signaling 2						cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity				0																		---	---	---	---
CFH	3075	broad.mit.edu	37	1	196642420	196642420	+	Intron	DEL	T	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196642420delT	uc001gtj.3	+						CFH_uc001gti.3_Intron|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Intron	NM_000186	NP_000177			complement factor H isoform a precursor						complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6																		---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28773037	28773038	+	Intron	INS	-	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28773037_28773038insT	uc002rmb.1	+						PLB1_uc010ezj.1_Intron|PLB1_uc002rmc.2_Intron	NM_153021	NP_694566			phospholipase B1 precursor						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54114939	54114940	+	Intron	INS	-	A	A	rs13388442	by1000genomes	TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54114939_54114940insA	uc002rxp.2	-						PSME4_uc010yop.1_Intron|PSME4_uc010yoq.1_Intron|PSME4_uc010fbu.1_Intron|PSME4_uc010fbv.1_Intron|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429			proteasome (prosome, macropain) activator						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
Unknown	0	broad.mit.edu	37	2	76333936	76333936	+	IGR	DEL	C	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:76333936delC								C2orf3 (395825 upstream) : LRRTM4 (640922 downstream)																																			---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17469904	17469905	+	Intron	DEL	TA	-	-	rs9872396		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17469904_17469905delTA	uc003cbf.2	-						TBC1D5_uc010hev.2_Intron|TBC1D5_uc003cbe.2_Intron	NM_014744	NP_055559			TBC1 domain family, member 5 isoform b							intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
ALS2CL	259173	broad.mit.edu	37	3	46716275	46716275	+	Intron	DEL	G	-	-	rs75707838	by1000genomes	TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46716275delG	uc003cqa.1	-						ALS2CL_uc003cpx.1_Intron|ALS2CL_uc003cpy.1_Intron|ALS2CL_uc003cpz.1_Intron|ALS2CL_uc003cqb.1_Intron|ALS2CL_uc003cqc.1_Intron	NM_147129	NP_667340			ALS2 C-terminal like isoform 1						endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89259685	89259686	+	Intron	DEL	TA	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89259685_89259686delTA	uc003dqy.2	+						EPHA3_uc003dqx.1_Intron|EPHA3_uc010hon.1_Intron	NM_005233	NP_005224			ephrin receptor EphA3 isoform a precursor							extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	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)											TSP Lung(6;0.00050)			---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15989500	15989500	+	Intron	DEL	C	-	-	rs56144936		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15989500delC	uc003goo.2	-						PROM1_uc003gor.2_Intron|PROM1_uc003gos.2_Intron|PROM1_uc003got.2_Intron|PROM1_uc003gou.2_Intron|PROM1_uc003gop.2_Intron|PROM1_uc003goq.3_Intron	NM_006017	NP_006008			prominin 1 isoform 1						camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7																		---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68531131	68531132	+	Intron	INS	-	T	T	rs72340884		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68531131_68531132insT	uc003hdg.3	-						UBA6_uc003hdi.2_Intron|UBA6_uc003hdj.2_Intron	NM_018227	NP_060697			ubiquitin-activating enzyme E1-like 2						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
ADH6	130	broad.mit.edu	37	4	100137537	100137538	+	Intron	INS	-	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100137537_100137538insA	uc003hup.3	-						uc003hum.1_Intron|ADH6_uc003huo.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Intron	NM_000672	NP_000663			class V alcohol dehydrogenase isoform 2						ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)													---	---	---	---
LOC285501	285501	broad.mit.edu	37	4	178882198	178882198	+	Intron	DEL	A	-	-	rs74822716		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:178882198delA	uc010iru.2	+							NR_028342				Homo sapiens cDNA clone IMAGE:4828874.												0		all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)														---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16902321	16902322	+	Intron	INS	-	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16902321_16902322insT	uc003jft.3	-						MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Intron	NM_012334	NP_036466			myosin X						axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
SRP19	6728	broad.mit.edu	37	5	112198072	112198074	+	Intron	DEL	AGG	-	-	rs112093457		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112198072_112198074delAGG	uc003kqc.2	+						SRP19_uc003kqb.1_Intron|SRP19_uc011cvu.1_Intron|SRP19_uc011cvv.1_Intron	NM_003135	NP_003126			signal recognition particle 19kDa						response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)														---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147493803	147493804	+	Intron	INS	-	A	A	rs142874955		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147493803_147493804insA	uc003lox.2	+						SPINK5_uc010jgs.1_Intron|SPINK5_uc010jgr.2_Intron|SPINK5_uc003low.2_Intron|SPINK5_uc003loy.2_Intron	NM_006846	NP_006837			serine peptidase inhibitor, Kazal type 5 isoform						anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
CLTB	1212	broad.mit.edu	37	5	175823608	175823609	+	Intron	DEL	AG	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:175823608_175823609delAG	uc003meh.2	-						CLTB_uc003mei.2_Intron|CLTB_uc011dfn.1_Intron	NM_007097	NP_009028			clathrin, light polypeptide isoform b						intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity				0	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)														---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114266362	114266362	+	Intron	DEL	A	-	-	rs144420552		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:114266362delA	uc003pwd.1	-						HDAC2_uc003pwc.1_Intron|HDAC2_uc003pwe.1_Intron	NM_001527	NP_001518			histone deacetylase 2						blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			skin(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)													---	---	---	---
SPDYE1	285955	broad.mit.edu	37	7	44043624	44043624	+	Intron	DEL	C	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44043624delC	uc003tjf.2	+						POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.2_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.3_Intron	NM_175064	NP_778234			Williams Beuren syndrome chromosome region 19											ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	57698565	57698566	+	5'Flank	INS	-	TGGG	TGGG			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:57698565_57698566insTGGG	uc003tso.1	+											Homo sapiens macronuclear mRNA.																														---	---	---	---
RABGEF1	27342	broad.mit.edu	37	7	66098581	66098581	+	Intron	DEL	T	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66098581delT	uc003tvf.2	+						KCTD7_uc003tvd.3_Intron|KCTD7_uc003tve.2_Intron	NM_014504	NP_055319			RAB guanine nucleotide exchange factor (GEF) 1						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81634823	81634823	+	Intron	DEL	A	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81634823delA	uc003uhr.1	-							NM_000722	NP_000713			calcium channel, voltage-dependent, alpha							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)													---	---	---	---
ZDHHC2	51201	broad.mit.edu	37	8	17065380	17065380	+	Intron	DEL	A	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17065380delA	uc003wxe.2	+							NM_016353	NP_057437			zinc finger, DHHC-type containing 2							integral to membrane	acyltransferase activity|zinc ion binding				0				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)														---	---	---	---
SORBS3	10174	broad.mit.edu	37	8	22426859	22426860	+	Intron	INS	-	T	T	rs13258049	by1000genomes	TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22426859_22426860insT	uc003xbv.2	+						SORBS3_uc003xbw.3_Intron	NM_005775	NP_005766			sorbin and SH3 domain containing 3 isoform 1						muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	68413567	68413567	+	RNA	DEL	G	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:68413567delG	uc004aex.2	+	1		c.122delG								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																														---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113192387	113192387	+	Intron	DEL	C	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113192387delC	uc010mtz.2	-						SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197			polydom						cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	130209778	130209778	+	IGR	DEL	A	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130209778delA								ZNF79 (2128 upstream) : RPL12 (177 downstream)																																			---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140777551	140777552	+	Intron	INS	-	GGAA	GGAA	rs140080287	by1000genomes	TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140777551_140777552insGGAA	uc004cog.2	+						uc004cof.1_Intron	NM_000718	NP_000709			calcium channel, voltage-dependent, N type,						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)													---	---	---	---
VCL	7414	broad.mit.edu	37	10	75803109	75803110	+	Intron	INS	-	T	T	rs145684984		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75803109_75803110insT	uc001jwd.2	+						VCL_uc009xrr.2_Intron|VCL_uc010qky.1_Intron|VCL_uc001jwe.2_Intron|VCL_uc010qkz.1_Intron	NM_014000	NP_054706			vinculin isoform meta-VCL						adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)																	---	---	---	---
Unknown	0	broad.mit.edu	37	11	97158168	97158168	+	IGR	DEL	T	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:97158168delT								None (None upstream) : None (None downstream)																																			---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	100175880	100175880	+	Intron	DEL	A	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100175880delA	uc001tge.1	-						ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_152788	NP_690001			cajalin 2 isoform a							Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)														---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101763831	101763831	+	Intron	DEL	A	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101763831delA	uc001tia.1	+							NM_014503	NP_055318			down-regulated in metastasis						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73563894	73563895	+	Intron	INS	-	TTTTC	TTTTC			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73563894_73563895insTTTTC	uc001xno.2	+						RBM25_uc001xnn.3_Intron|RBM25_uc010ttu.1_Intron|RBM25_uc001xnp.2_Intron	NM_021239	NP_067062			RNA binding motif protein 25						apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)														---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106094606	106094607	+	Intron	INS	-	C	C	rs151095596	by1000genomes	TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106094606_106094607insC	uc010tyt.1	-						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32927960	32927960	+	Intron	DEL	T	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:32927960delT	uc001zgy.1	+						ARHGAP11A_uc010ubw.1_Intron|ARHGAP11A_uc001zgw.2_Intron|ARHGAP11A_uc001zgx.2_Intron|ARHGAP11A_uc010ubx.1_Intron	NM_014783	NP_055598			Rho GTPase activating protein 11A isoform 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			skin(3)|breast(2)|urinary_tract(1)	6		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)														---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63928473	63928473	+	Intron	DEL	T	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63928473delT	uc002amp.2	-							NM_003922	NP_003913			hect domain and RCC1-like domain 1						protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70342715	70342715	+	Intron	DEL	G	-	-	rs3215108		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70342715delG	uc002asm.2	-						TLE3_uc002ask.2_Intron|TLE3_uc002asl.2_Intron|TLE3_uc010ukd.1_Intron|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Intron|TLE3_uc002asn.2_Intron|TLE3_uc002asp.2_Intron|TLE3_uc002aso.2_Intron	NM_005078	NP_005069			transducin-like enhancer protein 3 isoform a						organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2																		---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68713597	68713598	+	Intron	INS	-	AA	AA	rs71382055		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68713597_68713598insAA	uc002ewf.2	+						CDH3_uc010vli.1_Intron	NM_001793	NP_001784			cadherin 3, type 1 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)														---	---	---	---
Unknown	0	broad.mit.edu	37	16	72763868	72763869	+	Intron	INS	-	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72763868_72763869insA	uc002fcj.1	+											Homo sapiens cDNA FLJ11501 fis, clone HEMBA1002100.																														---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72858493	72858494	+	5'Flank	INS	-	C	C	rs150874217	by1000genomes	TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72858493_72858494insC	uc002jlt.1	-						GRIN2C_uc010wrh.1_5'Flank|GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank	NM_000835	NP_000826			N-methyl-D-aspartate receptor subunit 2C						glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)											OREG0024719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
BSG	682	broad.mit.edu	37	19	581145	581158	+	Intron	DEL	CCCGGACCCAGCCC	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:581145_581158delCCCGGACCCAGCCC	uc002loz.2	+						BSG_uc002loy.2_Intron|BSG_uc002lpa.2_Intron|BSG_uc002lpb.2_Intron|BSG_uc010drr.2_Intron|BSG_uc002lpc.2_Intron|BSG_uc002lpd.2_5'Flank	NM_001728	NP_001719			basigin isoform 1 precursor						blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)														---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10077045	10077046	+	Frame_Shift_Ins	INS	-	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10077045_10077046insA	uc002mmq.1	-	64	4812_4813	c.4726_4727insT	c.(4726-4728)TGCfs	p.C1576fs		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1576	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)															---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48636047	48636048	+	Intron	INS	-	AAAAAAAAAAA	AAAAAAAAAAA			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48636047_48636048insAAAAAAAAAAA	uc002pia.1	-						LIG1_uc010xze.1_Intron|LIG1_uc002phz.1_Intron|LIG1_uc002pib.1_Intron|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Intron	NM_000234	NP_000225			DNA ligase I						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)								NER					---	---	---	---
NUCB1	4924	broad.mit.edu	37	19	49407784	49407784	+	Intron	DEL	C	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49407784delC	uc002plb.3	+						NUCB1_uc002pla.2_Intron|NUCB1_uc002plc.2_Intron	NM_006184	NP_006175			nucleobindin 1 precursor							ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)														---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	-	-	rs77187934		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52877717delT	uc002pzc.2	+						ZNF880_uc002pzb.3_Intron	NM_001145434	NP_001138906			zinc finger protein LOC400713						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0																		---	---	---	---
ZNF341	84905	broad.mit.edu	37	20	32339914	32339915	+	Intron	INS	-	C	C	rs144930383	by1000genomes	TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32339914_32339915insC	uc002wzy.2	+						ZNF341_uc002wzx.2_Intron|ZNF341_uc010geq.2_Intron|ZNF341_uc010ger.2_Intron	NM_032819	NP_116208			zinc finger protein 341						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
HORMAD2	150280	broad.mit.edu	37	22	30507905	30507905	+	Intron	DEL	T	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30507905delT	uc003agy.2	+							NM_152510	NP_689723			HORMA domain containing 2						meiosis|mitosis	chromosome|nucleus					0			Epithelial(10;0.125)															---	---	---	---
TAB1	10454	broad.mit.edu	37	22	39815792	39815792	+	Intron	DEL	A	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39815792delA	uc003axt.2	+						TAB1_uc003axr.2_Intron|TAB1_uc011aok.1_Intron|TAB1_uc003axu.1_Intron	NM_006116	NP_006107			mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane	catalytic activity|protein binding			breast(1)	1																		---	---	---	---
OTC	5009	broad.mit.edu	37	X	38226428	38226428	+	Intron	DEL	A	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38226428delA	uc004def.3	+							NM_000531	NP_000522			ornithine carbamoyltransferase precursor						arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)													---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149637907	149637908	+	Intron	INS	-	TC	TC	rs111485700		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149637907_149637908insTC	uc004fee.1	+						MAMLD1_uc011mxt.1_Intron|MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Intron|MAMLD1_uc011mxw.1_5'Flank	NM_005491	NP_005482			mastermind-like domain containing 1						male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
Unknown	0	broad.mit.edu	37	Y	8379219	8379222	+	IGR	DEL	TCTT	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:8379219_8379222delTCTT								TTTY12 (700498 upstream) : TTTY18 (172189 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	Y	28671979	28671979	+	IGR	DEL	T	-	-			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:28671979delT								None (None upstream) : None (None downstream)																																			---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23234547	23234547	+	Silent	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23234547C>T	uc009vqj.1	+	12	2383	c.2238C>T	c.(2236-2238)GAC>GAT	p.D746D	EPHB2_uc001bge.2_Silent_p.D747D|EPHB2_uc001bgf.2_Silent_p.D746D|EPHB2_uc010odu.1_Silent_p.D688D	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	746	Cytoplasmic (Potential).|Protein kinase.	Proton acceptor (By similarity).			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)										Hereditary_Prostate_Cancer				---	---	---	---
RABGGTB	5876	broad.mit.edu	37	1	76257946	76257946	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76257946T>A	uc001dgy.1	+	7	731	c.660T>A	c.(658-660)TGT>TGA	p.C220*	RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Nonsense_Mutation_p.C174*|RABGGTB_uc001dhc.1_5'Flank	NM_004582	NP_004573	P53611	PGTB2_HUMAN	RAB geranylgeranyltransferase, beta subunit	220	PFTB 5.				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1																		---	---	---	---
ABCD3	5825	broad.mit.edu	37	1	94964197	94964197	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94964197G>A	uc001dqn.3	+	17	1528	c.1426G>A	c.(1426-1428)GGC>AGC	p.G476S	ABCD3_uc010oto.1_Missense_Mutation_p.G500S|ABCD3_uc010otp.1_Missense_Mutation_p.G403S|ABCD3_uc009wdr.2_Missense_Mutation_p.G366S|ABCD3_uc001dqo.3_Missense_Mutation_p.G164S	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	476	ATP (Potential).|ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)														---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152327123	152327123	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152327123G>A	uc001ezw.3	-	3	3212	c.3139C>T	c.(3139-3141)CAG>TAG	p.Q1047*	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1047	Filaggrin 3.|Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173876592	173876592	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173876592A>C	uc001gjt.2	-	6	1333	c.1214T>G	c.(1213-1215)CTT>CGT	p.L405R		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	405					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)													---	---	---	---
SLC35F3	148641	broad.mit.edu	37	1	234458881	234458881	+	Silent	SNP	C	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234458881C>G	uc001hwa.1	+	7	1386	c.1158C>G	c.(1156-1158)CTC>CTG	p.L386L	SLC35F3_uc001hvy.1_Silent_p.L455L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	386					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)													OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237586400	237586400	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237586400G>T	uc001hyl.1	+	12	977	c.857G>T	c.(856-858)GGA>GTA	p.G286V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	286	Cytoplasmic (By similarity).|MIR 4.				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|cytosol|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)															---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247751887	247751887	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247751887T>G	uc010pyy.1	+	1	226	c.226T>G	c.(226-228)TTC>GTC	p.F76V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	76	Helical; Name=2; (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)															---	---	---	---
OR2W3	343171	broad.mit.edu	37	1	248059821	248059821	+	Silent	SNP	A	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248059821A>G	uc001idp.1	+	3	1202	c.933A>G	c.(931-933)CTA>CTG	p.L311L	OR2W3_uc010pzb.1_Silent_p.L311L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	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;0.0319)															---	---	---	---
APOB	338	broad.mit.edu	37	2	21225842	21225842	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21225842A>G	uc002red.2	-	29	12580	c.12452T>C	c.(12451-12453)CTG>CCG	p.L4151P		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4151					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163230084	163230084	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163230084C>A	uc002uch.1	-	15	3432	c.3220G>T	c.(3220-3222)GTA>TTA	p.V1074L		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	1074	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)													---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168108443	168108443	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168108443C>G	uc002udx.2	+	8	10559	c.10541C>G	c.(10540-10542)TCT>TGT	p.S3514C	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S3339C|XIRP2_uc010fpq.2_Missense_Mutation_p.S3292C|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3339					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
TTN	7273	broad.mit.edu	37	2	179443626	179443626	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179443626C>T	uc010zfg.1	-	269	60651	c.60427G>A	c.(60427-60429)GGC>AGC	p.G20143S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G13838S|TTN_uc010zfi.1_Missense_Mutation_p.G13771S|TTN_uc010zfj.1_Missense_Mutation_p.G13646S|uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21070							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)															---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222320295	222320295	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222320295G>A	uc002vmq.2	-	8	1729	c.1687C>T	c.(1687-1689)CTC>TTC	p.L563F	EPHA4_uc002vmr.2_Missense_Mutation_p.L563F|EPHA4_uc010zlm.1_Missense_Mutation_p.L504F|EPHA4_uc010zln.1_Missense_Mutation_p.L563F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	563	Helical; (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225639637	225639637	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225639637G>A	uc010fwz.1	-	52	6237	c.5998C>T	c.(5998-6000)CGG>TGG	p.R2000W	DOCK10_uc002vob.2_Missense_Mutation_p.R1994W|DOCK10_uc002voa.2_Missense_Mutation_p.R656W	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2000	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225661722	225661722	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225661722C>G	uc010fwz.1	-	43	5025	c.4786G>C	c.(4786-4788)GAA>CAA	p.E1596Q	DOCK10_uc002vob.2_Missense_Mutation_p.E1590Q|DOCK10_uc002voa.2_Missense_Mutation_p.E252Q|DOCK10_uc002voc.2_Missense_Mutation_p.E450Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1596	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)														---	---	---	---
RHOA	387	broad.mit.edu	37	3	49405953	49405953	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49405953C>T	uc003cwu.2	-	3	461	c.185G>A	c.(184-186)GGG>GAG	p.G62E	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	62	GTP (By similarity).				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)													---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26483296	26483296	+	Silent	SNP	C	T	T	rs79677636		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:26483296C>T	uc003gse.1	-	5	1404	c.1251G>A	c.(1249-1251)TCG>TCA	p.S417S		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	417	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)													---	---	---	---
SMR3B	10879	broad.mit.edu	37	4	71255426	71255426	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71255426C>T	uc011cas.1	+	3	182	c.101C>T	c.(100-102)CCG>CTG	p.P34L	SMR3B_uc003hfh.2_Missense_Mutation_p.P34L	NM_006685	NP_006676	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3	34	Pro-rich.					extracellular space				skin(1)	1		all_hematologic(202;0.196)																---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177142762	177142762	+	Intron	SNP	C	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177142762C>A	uc003iuq.1	-						ASB5_uc003iup.1_Intron	NM_080874	NP_543150			ankyrin repeat and SOCS box-containing protein						intracellular signal transduction					skin(2)	2		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)														---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74325257	74325257	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74325257T>A	uc003kdn.2	-	1	1468	c.606A>T	c.(604-606)AGA>AGT	p.R202S		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	202	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)														---	---	---	---
OTP	23440	broad.mit.edu	37	5	76932916	76932916	+	Silent	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76932916G>A	uc003kfg.2	-	2	325	c.177C>T	c.(175-177)CCC>CCT	p.P59P		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	orthopedia homeobox	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)														---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773983	140773983	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140773983A>G	uc003lkd.1	+	1	2501	c.1603A>G	c.(1603-1605)AGC>GGC	p.S535G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.S535G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	535	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
CPEB4	80315	broad.mit.edu	37	5	173376580	173376580	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:173376580A>G	uc003mcs.3	+	6	2932	c.1526A>G	c.(1525-1527)AAA>AGA	p.K509R	CPEB4_uc010jju.1_Missense_Mutation_p.K484R|CPEB4_uc010jjv.2_Missense_Mutation_p.K492R|CPEB4_uc011dfg.1_Missense_Mutation_p.K484R|CPEB4_uc003mct.3_Missense_Mutation_p.K119R|CPEB4_uc003mcu.3_Missense_Mutation_p.K102R	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	509	RRM 1.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
HRH2	3274	broad.mit.edu	37	5	175110886	175110886	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:175110886A>G	uc003mdd.2	+	1	2423	c.650A>G	c.(649-651)AAT>AGT	p.N217S	HRH2_uc003mdc.3_Missense_Mutation_p.N217S	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	217	Cytoplasmic (Potential).		N -> D.		G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)													---	---	---	---
HDGFL1	154150	broad.mit.edu	37	6	22570002	22570002	+	Silent	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:22570002C>T	uc003nds.2	+	1	325	c.198C>T	c.(196-198)TTC>TTT	p.F66F		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	66											0	Ovarian(93;0.163)																	---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27834888	27834888	+	Silent	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27834888C>T	uc003njx.2	-	1	472	c.420G>A	c.(418-420)AAG>AAA	p.K140K		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	140					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3																		---	---	---	---
APOM	55937	broad.mit.edu	37	6	31625241	31625241	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31625241G>A	uc003nvl.2	+	4	501	c.428G>A	c.(427-429)CGC>CAC	p.R143H	APOM_uc003nvk.2_Missense_Mutation_p.R71H	NM_019101	NP_061974	O95445	APOM_HUMAN	apolipoprotein M	143		Fatty acid.			cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity				0																		---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31730316	31730316	+	3'UTR	SNP	T	C	C			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31730316T>C	uc003nwv.1	+	25					MSH5_uc003nwt.1_3'UTR|MSH5_uc003nwu.1_3'UTR|MSH5_uc003nww.1_3'UTR|MSH5_uc003nwx.1_3'UTR|MSH5_uc011dof.1_3'UTR|MSH5_uc003nwy.1_3'UTR|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank	NM_172166	NP_751898			mutS homolog 5 isoform c						chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3													Direct_reversal_of_damage|MMR					---	---	---	---
CRISP2	7180	broad.mit.edu	37	6	49667600	49667600	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49667600C>T	uc003ozq.2	-	6	444	c.188G>A	c.(187-189)TGG>TAG	p.W63*	CRISP2_uc003ozl.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozn.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozr.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozo.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozm.2_Nonsense_Mutation_p.W63*|CRISP2_uc003ozp.2_Nonsense_Mutation_p.W63*	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	63						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)															---	---	---	---
LRRC1	55227	broad.mit.edu	37	6	53706991	53706991	+	Silent	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53706991C>T	uc003pcd.1	+	2	520	c.243C>T	c.(241-243)TTC>TTT	p.F81F		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	81	LRR 3.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127836184	127836184	+	Silent	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127836184G>A	uc003qbd.2	-	3	1975	c.1110C>T	c.(1108-1110)ATC>ATT	p.I370I		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	370	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
SLC22A1	6580	broad.mit.edu	37	6	160555103	160555103	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160555103G>A	uc003qtc.2	+	4	890	c.785G>A	c.(784-786)CGC>CAC	p.R262H	SLC22A1_uc003qtd.2_Missense_Mutation_p.R262H	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	262	Extracellular (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)														---	---	---	---
ATP5J2	9551	broad.mit.edu	37	7	99056877	99056877	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99056877C>T	uc003uqm.2	-	3	193	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	PTCD1_uc011kiw.1_Intron|ATP5J2_uc003uql.2_Missense_Mutation_p.R44Q|ATP5J2_uc003uqn.2_Intron|ATP5J2_uc003uqo.2_Intron	NM_004889	NP_004880	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	50					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)				ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)															OREG0018190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701159	143701159	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143701159C>T	uc003wdt.1	+	1	70	c.70C>T	c.(70-72)CGG>TGG	p.R24W		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)																	---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32621813	32621813	+	Missense_Mutation	SNP	C	T	T	rs147189312	byFrequency	TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32621813C>T	uc003xiv.2	+	12	2333	c.1816C>T	c.(1816-1818)CGC>TGC	p.R606C	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.R611C|NRG1_uc003xiw.2_Missense_Mutation_p.R603C|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.R348C|NRG1_uc010lvs.2_Missense_Mutation_p.R348C|NRG1_uc010lvp.2_Missense_Mutation_p.R560C|NRG1_uc010lvq.2_Missense_Mutation_p.R543C|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.R449C|NRG1_uc003xja.2_Missense_Mutation_p.R417C	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	606	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76471222	76471222	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:76471222T>A	uc003yaq.2	+	9	1202	c.932T>A	c.(931-933)CTT>CAT	p.L311H	HNF4G_uc003yar.2_Missense_Mutation_p.L348H	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	311					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)															---	---	---	---
TATDN1	83940	broad.mit.edu	37	8	125528240	125528240	+	Silent	SNP	A	C	C			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125528240A>C	uc003yrd.2	-	5	276	c.234T>G	c.(232-234)CCT>CCG	p.P78P	TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Silent_p.P31P|TATDN1_uc003yrf.2_Silent_p.P78P	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1 isoform a	78						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15726138	15726138	+	Intron	SNP	C	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15726138C>G	uc001ioc.1	-						ITGA8_uc010qcb.1_Intron	NM_003638	NP_003629			integrin, alpha 8 precursor						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6																		---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85968592	85968592	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85968592C>A	uc001kcv.2	+	12	1275	c.1275C>A	c.(1273-1275)AAC>AAA	p.N425K	CDHR1_uc001kcw.2_Missense_Mutation_p.N425K|CDHR1_uc009xst.2_Missense_Mutation_p.N184K	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	425	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1																		---	---	---	---
RNLS	55328	broad.mit.edu	37	10	90342921	90342921	+	Silent	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90342921G>A	uc001kfe.2	-	1	162	c.27C>T	c.(25-27)GCC>GCT	p.A9A	RNLS_uc010qms.1_Silent_p.A9A|RNLS_uc001kfd.2_Silent_p.A9A	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	9						extracellular region	oxidoreductase activity			ovary(1)	1																OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104121522	104121522	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104121522G>C	uc001kux.1	+	14	1776	c.1536G>C	c.(1534-1536)AAG>AAC	p.K512N	GBF1_uc001kuy.1_Missense_Mutation_p.K512N|GBF1_uc001kuz.1_Missense_Mutation_p.K513N	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	512					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)														---	---	---	---
CCDC147	159686	broad.mit.edu	37	10	106124545	106124545	+	Silent	SNP	C	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106124545C>A	uc001kyh.2	+	4	629	c.495C>A	c.(493-495)CTC>CTA	p.L165L		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	165	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)														---	---	---	---
EMX2	2018	broad.mit.edu	37	10	119305202	119305202	+	Missense_Mutation	SNP	C	T	T	rs8192642	byFrequency;by1000genomes	TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:119305202C>T	uc001ldh.3	+	2	1289	c.466C>T	c.(466-468)CGG>TGG	p.R156W	EMX2OS_uc001ldg.2_5'Flank|EMX2_uc001ldi.3_Intron	NM_004098	NP_004089	Q04743	EMX2_HUMAN	empty spiracles homeobox 2 isoform 1	156	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)														---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123842259	123842259	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123842259A>G	uc001lfv.2	+	4	604	c.244A>G	c.(244-246)AAG>GAG	p.K82E	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.K82E|TACC2_uc010qtv.1_Missense_Mutation_p.K82E	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	82						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---
OR52L1	338751	broad.mit.edu	37	11	6007312	6007312	+	Silent	SNP	A	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6007312A>G	uc001mcd.2	-	1	904	c.849T>C	c.(847-849)GGT>GGC	p.G283G		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	283	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56954951	56954951	+	Silent	SNP	C	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56954951C>A	uc001njl.1	+	2	1170	c.1023C>A	c.(1021-1023)ATC>ATA	p.I341I	LRRC55_uc001njm.1_5'Flank	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	311						integral to membrane					0																		---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57573377	57573377	+	Silent	SNP	T	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57573377T>A	uc001nmc.3	+	10	2317	c.1746T>A	c.(1744-1746)CTT>CTA	p.L582L	CTNND1_uc001nlh.1_Silent_p.L582L|CTNND1_uc001nlu.3_Silent_p.L481L|CTNND1_uc001nlt.3_Silent_p.L481L|CTNND1_uc001nls.3_Silent_p.L481L|CTNND1_uc001nlw.3_Silent_p.L481L|CTNND1_uc001nmf.3_Silent_p.L582L|CTNND1_uc001nmd.3_Silent_p.L528L|CTNND1_uc001nlk.3_Silent_p.L528L|CTNND1_uc001nme.3_Silent_p.L582L|CTNND1_uc001nll.3_Silent_p.L528L|CTNND1_uc001nmg.3_Silent_p.L528L|CTNND1_uc001nlj.3_Silent_p.L528L|CTNND1_uc001nlr.3_Silent_p.L528L|CTNND1_uc001nlp.3_Silent_p.L528L|CTNND1_uc001nlx.3_Silent_p.L259L|CTNND1_uc001nlz.3_Silent_p.L259L|CTNND1_uc009ymn.2_Silent_p.L259L|CTNND1_uc001nlm.3_Silent_p.L582L|CTNND1_uc001nly.3_Silent_p.L259L|CTNND1_uc001nmb.3_Silent_p.L259L|CTNND1_uc001nma.3_Silent_p.L259L|CTNND1_uc001nmi.3_Silent_p.L481L|CTNND1_uc001nmh.3_Silent_p.L582L|CTNND1_uc001nlq.3_Silent_p.L481L|CTNND1_uc001nln.3_Silent_p.L582L|CTNND1_uc001nli.3_Silent_p.L582L|CTNND1_uc001nlo.3_Silent_p.L481L|CTNND1_uc001nlv.3_Silent_p.L481L	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	582					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)																---	---	---	---
OR2AT4	341152	broad.mit.edu	37	11	74800481	74800481	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74800481C>T	uc010rro.1	-	1	278	c.278G>A	c.(277-279)GGG>GAG	p.G93E		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124739005	124739005	+	Silent	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124739005C>T	uc001qbc.2	+	2	660	c.468C>T	c.(466-468)AAC>AAT	p.N156N		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	156	Ig-like C2-type 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)														---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1992095	1992095	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1992095G>A	uc001qjp.2	-	13	1654	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.R363C	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	475	Extracellular (Potential).					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)														---	---	---	---
VWF	7450	broad.mit.edu	37	12	6080794	6080794	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6080794G>A	uc001qnn.1	-	44	7769	c.7519C>T	c.(7519-7521)CGG>TGG	p.R2507W	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2507	Cell attachment site.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)													---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53007513	53007513	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53007513G>A	uc001sas.2	-	5	978	c.943C>T	c.(943-945)CGG>TGG	p.R315W		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	315	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106786900	106786900	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106786900G>T	uc001tlp.2	+	10	1037	c.815G>T	c.(814-816)TGC>TTC	p.C272F	POLR3B_uc001tlq.2_Missense_Mutation_p.C214F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	272					innate immune response|positive regulation of 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	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TMEM119	338773	broad.mit.edu	37	12	108985737	108985737	+	Silent	SNP	A	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108985737A>G	uc001tng.2	-	2	586	c.423T>C	c.(421-423)AGT>AGC	p.S141S	TMEM119_uc001tnf.2_RNA	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	transmembrane protein 119 precursor	141	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1																		---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130834487	130834487	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130834487T>C	uc001uik.2	+	9	1109	c.1019T>C	c.(1018-1020)GTC>GCC	p.V340A	PIWIL1_uc001uij.1_Missense_Mutation_p.V340A	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	340	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)														---	---	---	---
ZNF268	10795	broad.mit.edu	37	12	133764473	133764473	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133764473G>C	uc010tcf.1	+	3	379	c.49G>C	c.(49-51)GAA>CAA	p.E17Q	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_5'UTR|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_Intron|ZNF268_uc010tcb.1_5'UTR|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.E17Q	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	17						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)														---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32911048	32911048	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32911048C>G	uc001uub.1	+	11	2783	c.2556C>G	c.(2554-2556)AAC>AAG	p.N852K		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	852	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)				D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			---	---	---	---
VPS36	51028	broad.mit.edu	37	13	53016581	53016581	+	Splice_Site	SNP	C	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53016581C>G	uc001vgs.2	-	2	131	c.97_splice	c.e2-1	p.I33_splice	VPS36_uc001vgq.2_Splice_Site	NM_016075	NP_057159			vacuolar protein sorting 36						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			skin(1)	1		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)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208916	58208916	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208916G>A	uc001vhq.1	+	1	3128	c.2236G>A	c.(2236-2238)GAG>AAG	p.E746K	PCDH17_uc010aec.1_Missense_Mutation_p.E746K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	746	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24845524	24845524	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24845524C>T	uc001wpc.2	+	9	2402	c.2081C>T	c.(2080-2082)CCG>CTG	p.P694L	NFATC4_uc010tok.1_Missense_Mutation_p.P757L|NFATC4_uc010tol.1_Missense_Mutation_p.P757L|NFATC4_uc010alr.2_Missense_Mutation_p.P757L|NFATC4_uc010tom.1_Missense_Mutation_p.P707L|NFATC4_uc010ton.1_Missense_Mutation_p.P707L|NFATC4_uc010too.1_Missense_Mutation_p.P707L|NFATC4_uc010alt.2_Missense_Mutation_p.P726L|NFATC4_uc010top.1_Missense_Mutation_p.P726L|NFATC4_uc010toq.1_Missense_Mutation_p.P726L|NFATC4_uc010tor.1_Missense_Mutation_p.P694L|NFATC4_uc010tos.1_Missense_Mutation_p.P624L|NFATC4_uc010tot.1_Missense_Mutation_p.P682L|NFATC4_uc010tou.1_Missense_Mutation_p.P624L|NFATC4_uc010tov.1_Missense_Mutation_p.P682L|NFATC4_uc010tow.1_Missense_Mutation_p.P624L|NFATC4_uc010alv.2_Missense_Mutation_p.P682L|NFATC4_uc010tox.1_Missense_Mutation_p.P624L|NFATC4_uc001wpd.2_Missense_Mutation_p.P229L|NFATC4_uc010toy.1_Missense_Mutation_p.P229L|NFATC4_uc010toz.1_Missense_Mutation_p.P229L|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	694					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)														---	---	---	---
KCNK13	56659	broad.mit.edu	37	14	90650473	90650473	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90650473C>T	uc001xye.1	+	2	795	c.353C>T	c.(352-354)CCG>CTG	p.P118L		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	118						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)																---	---	---	---
TMEM202	338949	broad.mit.edu	37	15	72699483	72699483	+	Missense_Mutation	SNP	A	G	G	rs142013465	byFrequency	TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72699483A>G	uc002auq.2	+	4	544	c.544A>G	c.(544-546)AGG>GGG	p.R182G	TMEM202_uc002aur.2_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	182						integral to membrane				central_nervous_system(1)|skin(1)	2																		---	---	---	---
SH3GL3	6457	broad.mit.edu	37	15	84245455	84245455	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:84245455T>G	uc002bjw.2	+	6	781	c.586T>G	c.(586-588)TTG>GTG	p.L196V	SH3GL3_uc010uot.1_Missense_Mutation_p.L196V|SH3GL3_uc002bjx.2_Missense_Mutation_p.L127V|SH3GL3_uc002bju.2_Missense_Mutation_p.L204V|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	196	BAR.|Potential.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75681861	75681861	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75681861C>G	uc002fet.1	+	1	178	c.81C>G	c.(79-81)AGC>AGG	p.S27R	KARS_uc002fer.2_5'Flank|KARS_uc002feq.2_5'Flank|KARS_uc002fes.2_5'Flank|KARS_uc010cha.1_Intron	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	27					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1																		---	---	---	---
PELP1	27043	broad.mit.edu	37	17	4577819	4577819	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4577819G>A	uc002fyi.3	-	13	1794	c.1568C>T	c.(1567-1569)GCG>GTG	p.A523V	PELP1_uc010vsf.1_Missense_Mutation_p.A376V	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	523					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	T	T	rs28934578		TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> 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 helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|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|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	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|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|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|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)	22245		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)		R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
CD300LF	146722	broad.mit.edu	37	17	72708985	72708985	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72708985G>T	uc002jlg.2	-	1	124	c.21C>A	c.(19-21)TAC>TAA	p.Y7*	RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlh.2_Nonsense_Mutation_p.Y7*|CD300LF_uc002jli.2_5'UTR|CD300LF_uc010wra.1_Nonsense_Mutation_p.Y7*	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	NK inhibitory receptor precursor	7						integral to membrane|plasma membrane	receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54313731	54313731	+	Silent	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54313731G>A	uc002qch.3	-	3	1402	c.1182C>T	c.(1180-1182)AAC>AAT	p.N394N	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.N394N|NLRP12_uc002qcj.3_Silent_p.N394N|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.N394N	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	394	NACHT.				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)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)														---	---	---	---
CDH22	64405	broad.mit.edu	37	20	44845476	44845476	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44845476C>T	uc002xrm.2	-	4	1228	c.827G>A	c.(826-828)CGT>CAT	p.R276H	CDH22_uc010ghk.1_Missense_Mutation_p.R276H|CDH22_uc002xrn.1_Missense_Mutation_p.R27H	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	276	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45204220	45204220	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45204220C>A	uc002xsf.1	-	10	1362	c.1324G>T	c.(1324-1326)GGC>TGC	p.G442C	SLC13A3_uc010ghn.1_Missense_Mutation_p.G411C|SLC13A3_uc010zxw.1_Missense_Mutation_p.G392C|SLC13A3_uc002xsg.1_Missense_Mutation_p.G395C|SLC13A3_uc010gho.1_Missense_Mutation_p.G360C|SLC13A3_uc010zxx.1_Missense_Mutation_p.G344C|SLC13A3_uc010zxv.1_Intron	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	442						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)													---	---	---	---
DMD	1756	broad.mit.edu	37	X	32429956	32429956	+	Silent	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32429956G>A	uc004dda.1	-	30	4390	c.4146C>T	c.(4144-4146)ATC>ATT	p.I1382I	DMD_uc004dcw.2_Silent_p.I38I|DMD_uc004dcx.2_Silent_p.I41I|DMD_uc004dcz.2_Silent_p.I1259I|DMD_uc004dcy.1_Silent_p.I1378I|DMD_uc004ddb.1_Silent_p.I1374I|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1382					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67273626	67273626	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67273626G>A	uc004dww.3	-	22	2479	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	OPHN1_uc011mpg.1_Missense_Mutation_p.R621W	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	729	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2																		---	---	---	---
USP26	83844	broad.mit.edu	37	X	132161318	132161318	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6520-01	TCGA-D7-6520-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132161318G>C	uc010nrm.1	-	6	1401	c.931C>G	c.(931-933)CAG>GAG	p.Q311E	USP26_uc011mvf.1_Missense_Mutation_p.Q311E	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	311					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
