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
NBPF10	100132406	broad.mit.edu	37	1	145579572	145579573	+	Intron	INS	-	T	T	rs66680279		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145579572_145579573insT	uc001emp.3	+						PIAS3_uc010oyy.1_Intron|PIAS3_uc001eoc.1_Intron|PIAS3_uc001eod.1_5'Flank	NM_017940	NP_060410			hypothetical protein LOC55672												0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)														---	---	---	---
GATAD2B	57459	broad.mit.edu	37	1	153800932	153800939	+	Intron	DEL	ACACACAC	-	-	rs71677766		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153800932_153800939delACACACAC	uc001fdb.3	-							NM_020699	NP_065750			GATA zinc finger domain containing 2B							nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
NDUFS2	4720	broad.mit.edu	37	1	161181960	161181961	+	Intron	INS	-	AA	AA			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161181960_161181961insAA	uc001fyv.2	+						NDUFS2_uc001fyw.2_Intron|NDUFS2_uc010pkj.1_Intron|NDUFS2_uc001fyx.2_Intron	NM_004550	NP_004541			NADH dehydrogenase (ubiquinone) Fe-S protein 2						mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			skin(1)	1	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)													---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171760962	171760964	+	Intron	DEL	TCA	-	-	rs149040982		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171760962_171760964delTCA	uc001ghz.2	+						METTL13_uc001gia.2_Intron|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Intron|METTL13_uc001gic.1_5'Flank	NM_015935	NP_057019			CGI-01 protein isoform 1								methyltransferase activity|protein binding			kidney(1)	1																		---	---	---	---
ACBD6	84320	broad.mit.edu	37	1	180471041	180471041	+	Intron	DEL	A	-	-	rs5779061		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180471041delA	uc001gog.2	-							NM_032360	NP_115736			acyl-coenzyme A binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223168053	223168053	+	Intron	DEL	T	-	-			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223168053delT	uc001hnu.1	+							NM_032890	NP_116279			dispatched A						diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)														---	---	---	---
C2orf80	389073	broad.mit.edu	37	2	209036457	209036458	+	Intron	INS	-	CCACTCCAT	CCACTCCAT	rs149518601	by1000genomes	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209036457_209036458insCCACTCCAT	uc002vcr.2	-							NM_001099334	NP_001092804			hypothetical protein LOC389073											skin(1)	1																		---	---	---	---
SYNPR	132204	broad.mit.edu	37	3	63466852	63466852	+	Intron	DEL	A	-	-	rs11349566		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63466852delA	uc003dlq.2	+						SYNPR_uc003dlp.2_Intron|SYNPR_uc011bfk.1_Intron|SYNPR_uc011bfl.1_Intron|SYNPR_uc010hnt.2_Intron|SYNPR_uc011bfm.1_Intron	NM_144642	NP_653243			synaptoporin isoform 2							cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)														---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142074103	142074104	+	Intron	INS	-	A	A	rs67564832	by1000genomes	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142074103_142074104insA	uc003eus.2	-						XRN1_uc010huu.2_Intron|XRN1_uc003eut.2_Intron|XRN1_uc003euu.2_Intron	NM_019001	NP_061874			5'-3' exoribonuclease 1 isoform a						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3																		---	---	---	---
GRK4	2868	broad.mit.edu	37	4	3038811	3038812	+	Intron	DEL	TG	-	-	rs34216391		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3038811_3038812delTG	uc003ggn.1	+						GRK4_uc003ggo.1_Intron|GRK4_uc003ggp.1_Intron|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027			G protein-coupled receptor kinase 4 isoform							cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
C4orf50	389197	broad.mit.edu	37	4	5975538	5975538	+	Frame_Shift_Del	DEL	G	-	-	rs16837960	byFrequency;by1000genomes	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5975538delG	uc003git.1	-	4	346	c.256delC	c.(256-258)CGGfs	p.R86fs		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	86										pancreas(2)|breast(1)	3																		---	---	---	---
FABP2	2169	broad.mit.edu	37	4	120243419	120243420	+	5'Flank	INS	-	TT	TT	rs151066719	by1000genomes	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120243419_120243420insTT	uc003icw.2	-							NM_000134	NP_000125			intestinal fatty acid binding protein 2								fatty acid binding			ovary(1)	1																		---	---	---	---
CBR4	84869	broad.mit.edu	37	4	169931341	169931341	+	5'UTR	DEL	G	-	-	rs67009551		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169931341delG	uc003iry.2	-	1					CBR4_uc011cjy.1_RNA|CBR4_uc003irz.1_5'UTR	NM_032783	NP_116172			carbonic reductase 4						fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding				0		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)												OREG0016397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26889845	26889847	+	Intron	DEL	CAG	-	-			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26889845_26889847delCAG	uc003jgs.1	-						CDH9_uc011cnv.1_Intron	NM_016279	NP_057363			cadherin 9, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---
Unknown	0	broad.mit.edu	37	5	50571606	50571607	+	IGR	INS	-	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50571606_50571607insA								PARP8 (433437 upstream) : ISL1 (107351 downstream)																																			---	---	---	---
RHOBTB3	22836	broad.mit.edu	37	5	95119265	95119266	+	Intron	INS	-	AAAA	AAAA	rs113635861		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:95119265_95119266insAAAA	uc003klm.2	+							NM_014899	NP_055714			rho-related BTB domain containing 3						retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)														---	---	---	---
C6orf10	10665	broad.mit.edu	37	6	32337948	32337959	+	Intron	DEL	GCTCTTACATTG	-	-	rs11275478		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32337948_32337959delGCTCTTACATTG	uc011dpy.1	-						C6orf10_uc011dpz.1_Intron	NM_006781	NP_006772			chromosome 6 open reading frame 10							integral to membrane				skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	6	32441391	32441392	+	IGR	INS	-	T	T	rs28986194		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32441391_32441392insT								HLA-DRA (28570 upstream) : HLA-DRB1 (43771 downstream)																																			---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92136560	92136560	+	Intron	DEL	T	-	-			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92136560delT	uc003uly.2	-						PEX1_uc011khr.1_Intron|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_Intron	NM_000466	NP_000457			peroxin1						microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)															---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9620574	9620574	+	Intron	DEL	T	-	-	rs66959741		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9620574delT	uc003wss.2	+						TNKS_uc011kww.1_Intron	NM_003747	NP_003738			tankyrase, TRF1-interacting ankyrin-related						mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
LETM2	137994	broad.mit.edu	37	8	38265165	38265166	+	Intron	INS	-	A	A	rs3215418		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38265165_38265166insA	uc003xlm.1	+						LETM2_uc003xll.1_Intron|LETM2_uc003xln.1_Intron|LETM2_uc003xlo.1_Intron	NM_144652	NP_653253			leucine zipper-EF-hand containing transmembrane							integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)															---	---	---	---
VLDLR	7436	broad.mit.edu	37	9	2644153	2644153	+	Intron	DEL	G	-	-	rs139069572		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2644153delG	uc003zhk.1	+						VLDLR_uc003zhl.1_Intron|VLDLR_uc003zhm.1_Intron|VLDLR_uc003zhn.1_Intron	NM_003383	NP_003374			very low density lipoprotein receptor isoform a						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)														---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33956316	33956316	+	Intron	DEL	T	-	-	rs68127153		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33956316delT	uc003ztq.1	-						UBAP2_uc011loc.1_Intron|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Intron|UBAP2_uc011log.1_Intron|UBAP2_uc003ztr.2_Intron	NM_018449	NP_060919			ubiquitin associated protein 2											ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	68430022	68430025	+	IGR	DEL	CAAA	-	-	rs112735354		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:68430022_68430025delCAAA								FAM27B (635833 upstream) : MIR1299 (572214 downstream)																																			---	---	---	---
TRDMT1	1787	broad.mit.edu	37	10	17202186	17202187	+	Intron	INS	-	AG	AG	rs140268541	by1000genomes	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17202186_17202187insAG	uc001iop.2	-						TRDMT1_uc001ioq.2_Intron|TRDMT1_uc001ior.2_Intron|TRDMT1_uc001ios.2_Intron|TRDMT1_uc009xjt.2_Intron|TRDMT1_uc010qcc.1_Intron|TRDMT1_uc010qcd.1_Intron|TRDMT1_uc009xjs.1_Intron|TRDMT1_uc009xju.1_Intron	NM_004412	NP_004403			tRNA aspartic acid methyltransferase 1 isoform						tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			ovary(1)	1																		---	---	---	---
MS4A13	503497	broad.mit.edu	37	11	60297090	60297091	+	Intron	INS	-	AGAA	AGAA	rs145927089	by1000genomes	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60297090_60297091insAGAA	uc001nps.2	+						MS4A13_uc009ync.2_Intron|MS4A13_uc009ynd.2_Intron	NM_001012417	NP_001012417			membrane-spanning 4-domains, subfamily A, member							integral to membrane					0																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	101306997	101306999	+	IGR	DEL	TGG	-	-			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101306997_101306999delTGG								PGR (306453 upstream) : TRPC6 (15297 downstream)																																			---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117965106	117965107	+	Intron	DEL	AG	-	-	rs68177299		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117965106_117965107delAG	uc001two.2	-							NM_173598	NP_775869			kinase suppressor of ras 2						intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64448080	64448081	+	Intron	INS	-	TA	TA	rs149771149	by1000genomes	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64448080_64448081insTA	uc001xgm.2	+						SYNE2_uc001xgl.2_Intron	NM_015180	NP_055995			spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	95193580	95193580	+	IGR	DEL	A	-	-			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95193580delA								SERPINA13 (80250 upstream) : GSC (40981 downstream)																																			---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12492570	12492571	+	Intron	INS	-	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12492570_12492571insT	uc002dby.3	+							NM_001080530	NP_001073999			sorting nexin 29						cell communication		phosphatidylinositol binding			ovary(1)	1																		---	---	---	---
SEPT1	1731	broad.mit.edu	37	16	30390168	30390169	+	Intron	INS	-	GAGAGGGGGAGAGAGG	GAGAGGGGGAGAGAGG	rs148773715	by1000genomes	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30390168_30390169insGAGAGGGGGAGAGAGG	uc002dxy.2	-						SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Intron	NM_052838	NP_443070			septin 1						cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)															---	---	---	---
MAPT	4137	broad.mit.edu	37	17	44069148	44069148	+	Intron	DEL	T	-	-			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44069148delT	uc002ijr.3	+						MAPT_uc010dau.2_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519			microtubule-associated protein tau isoform 1						cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)																---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17302113	17302114	+	Intron	DEL	CT	-	-	rs138603930		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17302113_17302114delCT	uc010eak.2	+						MYO9B_uc002nfi.2_Intron|MYO9B_uc002nfj.1_Intron	NM_004145	NP_004136			myosin IXB isoform 1						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1																		---	---	---	---
FCGRT	2217	broad.mit.edu	37	19	50029041	50029042	+	Intron	DEL	AG	-	-			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50029041_50029042delAG	uc002poe.2	+						FCGRT_uc002pod.2_Intron|FCGRT_uc002pog.2_Intron|FCGRT_uc002poi.2_Intron|RCN3_uc002poj.2_5'Flank	NM_001136019	NP_001129491			Fc fragment of IgG, receptor, transporter, alpha						antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)														---	---	---	---
ICOSLG	23308	broad.mit.edu	37	21	45650009	45650010	+	Intron	INS	-	G	G	rs141630436	by1000genomes	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45650009_45650010insG	uc002zee.2	-						ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Intron	NM_015259	NP_056074			inducible T-cell co-stimulator ligand precursor						B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)														---	---	---	---
Unknown	0	broad.mit.edu	37	X	99406229	99406230	+	IGR	DEL	TT	-	-			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99406229_99406230delTT								LOC442459 (211388 upstream) : PCDH19 (140420 downstream)																																			---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16260606	16260606	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16260606G>A	uc001axk.1	+	11	8075	c.7871G>A	c.(7870-7872)CGG>CAG	p.R2624Q	SPEN_uc010obp.1_Missense_Mutation_p.R2583Q	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2624	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---
USP48	84196	broad.mit.edu	37	1	22073598	22073598	+	Nonsense_Mutation	SNP	G	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22073598G>C	uc001bfb.2	-	8	1191	c.953C>G	c.(952-954)TCA>TGA	p.S318*	USP48_uc010odq.1_Nonsense_Mutation_p.S318*|USP48_uc009vqc.2_Nonsense_Mutation_p.S318*|USP48_uc001bfc.2_Nonsense_Mutation_p.S318*|USP48_uc001bfe.1_Nonsense_Mutation_p.S318*|USP48_uc001bff.2_Nonsense_Mutation_p.S318*	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	318					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)														---	---	---	---
C8B	732	broad.mit.edu	37	1	57415241	57415241	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57415241C>T	uc001cyp.2	-	6	918	c.851G>A	c.(850-852)CGA>CAA	p.R284Q	C8B_uc010oon.1_Missense_Mutation_p.R222Q|C8B_uc010ooo.1_Missense_Mutation_p.R232Q	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	284	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
GSTM3	2947	broad.mit.edu	37	1	110279764	110279764	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110279764G>T	uc001dyo.2	-	9	917	c.607C>A	c.(607-609)CAG>AAG	p.Q203K	GSTM3_uc001dyp.2_Missense_Mutation_p.Q200K	NM_000849	NP_000840	P21266	GSTM3_HUMAN	glutathione S-transferase mu 3	203	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding				0		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)													---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115419438	115419438	+	Intron	SNP	T	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115419438T>A	uc001efr.2	+						SYCP1_uc010owt.1_Intron|SYCP1_uc001efq.2_Intron|SYCP1_uc009wgw.2_Intron	NM_003176	NP_003167			synaptonemal complex protein 1						cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149885391	149885391	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149885391A>G	uc001etg.2	-	2	493	c.2T>C	c.(1-3)ATG>ACG	p.M1T	SV2A_uc001eth.2_Missense_Mutation_p.M1T	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	1	Cytoplasmic (Potential).|Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)													---	---	---	---
CD1C	911	broad.mit.edu	37	1	158262407	158262407	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158262407C>T	uc001fru.2	+	4	924	c.632C>T	c.(631-633)TCC>TTC	p.S211F	CD1C_uc001frv.2_Missense_Mutation_p.S14F	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	211	Extracellular (Potential).|Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)																	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197403842	197403842	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197403842C>A	uc001gtz.2	+	9	2984	c.2849C>A	c.(2848-2850)GCA>GAA	p.A950E	CRB1_uc010poz.1_Missense_Mutation_p.A926E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A838E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.A431E|CRB1_uc001gub.1_Missense_Mutation_p.A599E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	950	Extracellular (Potential).|EGF-like 14.|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9																		---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222802939	222802939	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222802939G>A	uc001hnl.2	+	4	2386	c.2377G>A	c.(2377-2379)GAG>AAG	p.E793K	MIA3_uc009xea.1_Missense_Mutation_p.E629K	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	793	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)														---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236906280	236906280	+	Missense_Mutation	SNP	C	T	T	rs148189507		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236906280C>T	uc001hyf.2	+	11	1396	c.1192C>T	c.(1192-1194)CGC>TGC	p.R398C	ACTN2_uc001hyg.2_Missense_Mutation_p.R190C|ACTN2_uc009xgi.1_Missense_Mutation_p.R398C|ACTN2_uc010pxu.1_Missense_Mutation_p.R87C|ACTN2_uc001hyh.2_Missense_Mutation_p.R86C	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	398					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)															---	---	---	---
OR13G1	441933	broad.mit.edu	37	1	247835708	247835708	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247835708G>T	uc001idi.1	-	1	636	c.636C>A	c.(634-636)TGC>TGA	p.C212*		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)															---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247921586	247921586	+	Silent	SNP	C	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247921586C>A	uc010pza.1	-	1	123	c.123G>T	c.(121-123)GGG>GGT	p.G41G		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1805549	1805549	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1805549G>C	uc002qxe.2	-	23	4022	c.3195C>G	c.(3193-3195)ATC>ATG	p.I1065M	MYT1L_uc002qxd.2_Missense_Mutation_p.I1063M|MYT1L_uc010ewk.2_Missense_Mutation_p.I61M	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1065	Potential.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)														---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27279566	27279566	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27279566G>C	uc002rie.2	+	8	1658	c.1441G>C	c.(1441-1443)GAG>CAG	p.E481Q	AGBL5_uc002rid.2_Missense_Mutation_p.E481Q|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	481					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29295778	29295778	+	Silent	SNP	C	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29295778C>A	uc002rmt.1	-	1	1350	c.1350G>T	c.(1348-1350)CTG>CTT	p.L450L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	450					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1																		---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69053233	69053233	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69053233C>T	uc002seu.2	+	11	2209	c.1845C>T	c.(1843-1845)CGC>CGT	p.R615R	ARHGAP25_uc010fdg.2_Silent_p.R616R|ARHGAP25_uc010yql.1_Silent_p.R576R|ARHGAP25_uc002sew.2_Silent_p.R608R|ARHGAP25_uc002sex.2_Silent_p.R609R|ARHGAP25_uc002sey.2_Silent_p.R342R	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	615	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E615D(1)		ovary(2)|breast(2)	4																		---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148680566	148680566	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:148680566C>T	uc002twg.2	+	10	1371	c.1102C>T	c.(1102-1104)CCA>TCA	p.P368S	ACVR2A_uc010zbn.1_Missense_Mutation_p.P260S|ACVR2A_uc002twh.2_Missense_Mutation_p.P368S	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	368	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)														---	---	---	---
TTN	7273	broad.mit.edu	37	2	179642243	179642243	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179642243T>C	uc010zfg.1	-	26	4773	c.4549A>G	c.(4549-4551)ATT>GTT	p.I1517V	TTN_uc010zfh.1_Missense_Mutation_p.I1471V|TTN_uc010zfi.1_Missense_Mutation_p.I1471V|TTN_uc010zfj.1_Missense_Mutation_p.I1471V|TTN_uc002unb.2_Missense_Mutation_p.I1517V|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1517							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)															---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215798942	215798942	+	Intron	SNP	G	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215798942G>T	uc002vew.2	-						ABCA12_uc002vev.2_Intron|ABCA12_uc010zjn.1_Intron	NM_173076	NP_775099			ATP-binding cassette, sub-family A, member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
NCL	4691	broad.mit.edu	37	2	232326384	232326384	+	Silent	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232326384G>A	uc002vru.2	-	3	621	c.480C>T	c.(478-480)GAC>GAT	p.D160D	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	160	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)														---	---	---	---
RNPEPL1	57140	broad.mit.edu	37	2	241516317	241516317	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241516317C>G	uc002vzi.2	+	10	1694	c.1101C>G	c.(1099-1101)AAC>AAG	p.N367K	RNPEPL1_uc010fzf.2_Missense_Mutation_p.N273K|RNPEPL1_uc002vzj.2_Missense_Mutation_p.N15K	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	367					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)														---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19554452	19554452	+	Intron	SNP	A	G	G			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19554452A>G	uc003cbk.1	+						KCNH8_uc010hex.1_Intron	NM_144633	NP_653234			potassium voltage-gated channel, subfamily H,							integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38628904	38628904	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38628904C>T	uc003cio.2	-	15	2617	c.2423G>A	c.(2422-2424)CGC>CAC	p.R808H	SCN5A_uc003cin.2_Missense_Mutation_p.R808H|SCN5A_uc003cil.3_Missense_Mutation_p.R808H|SCN5A_uc010hhi.2_Missense_Mutation_p.R808H|SCN5A_uc010hhk.2_Missense_Mutation_p.R808H|SCN5A_uc011ayr.1_Missense_Mutation_p.R808H|SCN5A_uc010hhj.1_Missense_Mutation_p.R419H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	808	Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
WDR6	11180	broad.mit.edu	37	3	49051460	49051460	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49051460T>A	uc003cvj.2	+	2	2721	c.2583T>A	c.(2581-2583)CAT>CAA	p.H861Q	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.H309Q|WDR6_uc010hkn.2_Missense_Mutation_p.H805Q|WDR6_uc011bbz.1_Missense_Mutation_p.H780Q	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	831					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)												OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RHOA	387	broad.mit.edu	37	3	49412898	49412898	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49412898T>G	uc003cwu.2	-	2	401	c.125A>C	c.(124-126)TAT>TCT	p.Y42S	RHOA_uc010hku.2_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	42	Effector region (Potential).				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)													---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78683085	78683085	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:78683085C>A	uc003dqe.2	-	24	3689	c.3481G>T	c.(3481-3483)GGG>TGG	p.G1161W	ROBO1_uc003dqb.2_Missense_Mutation_p.G1122W|ROBO1_uc003dqc.2_Missense_Mutation_p.G1061W|ROBO1_uc003dqd.2_Missense_Mutation_p.G1116W|ROBO1_uc010hoh.2_Missense_Mutation_p.G353W|ROBO1_uc011bgl.1_Missense_Mutation_p.G733W	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1161	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)														---	---	---	---
CCDC14	64770	broad.mit.edu	37	3	123667796	123667796	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123667796T>C	uc011bjx.1	-	6	771	c.680A>G	c.(679-681)AAG>AGG	p.K227R	CCDC14_uc003egv.3_Missense_Mutation_p.K27R|CCDC14_uc003egx.3_Missense_Mutation_p.K27R|CCDC14_uc010hrt.2_Missense_Mutation_p.K186R|CCDC14_uc003egy.3_Missense_Mutation_p.K27R|CCDC14_uc003egz.2_Missense_Mutation_p.K27R	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	227						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)														---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83778855	83778855	+	Silent	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83778855G>A	uc003hnf.2	-	15	1853	c.1689C>T	c.(1687-1689)ATC>ATT	p.I563I	SEC31A_uc003hne.2_Silent_p.I296I|SEC31A_uc011ccl.1_Silent_p.I524I|SEC31A_uc003hnl.2_Silent_p.I524I|SEC31A_uc003hng.2_Silent_p.I563I|SEC31A_uc003hnh.2_Silent_p.I563I|SEC31A_uc003hni.2_Silent_p.I563I|SEC31A_uc003hnj.2_Silent_p.I524I|SEC31A_uc011ccm.1_Silent_p.I558I|SEC31A_uc011ccn.1_Silent_p.I563I|SEC31A_uc003hnk.2_Silent_p.I524I|SEC31A_uc003hnm.2_Silent_p.I563I|SEC31A_uc003hnn.1_Silent_p.I563I	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	563					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)																---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100522851	100522851	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100522851A>C	uc003hvc.3	+	11	1580	c.1324A>C	c.(1324-1326)AAT>CAT	p.N442H	MTTP_uc011cej.1_Missense_Mutation_p.N469H	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	442	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)													---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100522877	100522877	+	Intron	SNP	T	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100522877T>C	uc003hvc.3	+						MTTP_uc011cej.1_Intron	NM_000253	NP_000244			microsomal triglyceride transfer protein large						lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)													---	---	---	---
ANK2	287	broad.mit.edu	37	4	114277913	114277913	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114277913C>T	uc003ibe.3	+	38	8239	c.8139C>T	c.(8137-8139)GTC>GTT	p.V2713V	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.V15V|ANK2_uc011cgb.1_Silent_p.V2728V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2680					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126373396	126373396	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126373396C>A	uc003ifj.3	+	9	11225	c.11225C>A	c.(11224-11226)ACA>AAA	p.T3742K	FAT4_uc011cgp.1_Missense_Mutation_p.T2040K|FAT4_uc003ifi.1_Missense_Mutation_p.T1220K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3742	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183675803	183675803	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183675803G>A	uc003ivd.1	+	21	4320	c.4283G>A	c.(4282-4284)CGG>CAG	p.R1428Q	ODZ3_uc003ive.1_Missense_Mutation_p.R841Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1428	Extracellular (Potential).|NHL 4.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13919406	13919406	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13919406G>A	uc003jfd.2	-	7	896	c.854C>T	c.(853-855)GCG>GTG	p.A285V	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	285	Potential.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
BHMT	635	broad.mit.edu	37	5	78417142	78417142	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78417142G>T	uc003kfu.3	+	5	684	c.579G>T	c.(577-579)TTG>TTT	p.L193F	BHMT_uc011cti.1_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	193	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)													---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89989834	89989834	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89989834C>A	uc003kju.2	+	33	7357	c.7261C>A	c.(7261-7263)CCA>ACA	p.P2421T	GPR98_uc003kjt.2_Missense_Mutation_p.P127T|GPR98_uc003kjv.2_Missense_Mutation_p.P21T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2421	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127673797	127673797	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127673797G>A	uc003kuu.2	-	27	3929	c.3490C>T	c.(3490-3492)CGT>TGT	p.R1164C	FBN2_uc003kuv.2_Missense_Mutation_p.R1131C	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1164	EGF-like 17; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
CTNNA1	1495	broad.mit.edu	37	5	138268343	138268343	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138268343T>A	uc003ldh.2	+	17	2470	c.2375T>A	c.(2374-2376)ATC>AAC	p.I792N	CTNNA1_uc011cyx.1_Missense_Mutation_p.I689N|CTNNA1_uc011cyy.1_Missense_Mutation_p.I669N|CTNNA1_uc003ldi.2_Missense_Mutation_p.I490N|CTNNA1_uc003ldj.2_Missense_Mutation_p.I792N|CTNNA1_uc003ldl.2_Missense_Mutation_p.I422N	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	792					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140517125	140517125	+	Silent	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140517125G>A	uc003liq.2	+	1	2326	c.2109G>A	c.(2107-2109)TCG>TCA	p.S703S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	703	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
CDKAL1	54901	broad.mit.edu	37	6	20781484	20781484	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20781484C>T	uc003ndc.1	+	8	800	c.626C>T	c.(625-627)TCC>TTC	p.S209F	CDKAL1_uc003ndd.1_Missense_Mutation_p.S209F|CDKAL1_uc003nde.1_Missense_Mutation_p.S139F	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	209					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)															---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28254891	28254891	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28254891A>C	uc003nky.2	+	4	958	c.588A>C	c.(586-588)GAA>GAC	p.E196D	PGBD1_uc003nkz.2_Missense_Mutation_p.E196D	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	196					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4																		---	---	---	---
ELOVL5	60481	broad.mit.edu	37	6	53140993	53140993	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53140993C>T	uc003pbq.1	-	4	756	c.308G>A	c.(307-309)GGA>GAA	p.G103E	ELOVL5_uc003pbr.1_Missense_Mutation_p.G103E|ELOVL5_uc011dwx.1_Missense_Mutation_p.G130E|ELOVL5_uc003pbs.1_Missense_Mutation_p.G103E	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN	elongation of very long chain fatty acids-like	103					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Lung NSC(77;0.116)																	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	73100419	73100419	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73100419A>G	uc003pga.2	+	30	4563	c.4486A>G	c.(4486-4488)AGT>GGT	p.S1496G	RIMS1_uc011dyb.1_Missense_Mutation_p.S893G|RIMS1_uc003pgc.2_Missense_Mutation_p.S945G|RIMS1_uc010kaq.2_Missense_Mutation_p.S816G|RIMS1_uc011dyc.1_Missense_Mutation_p.S621G|RIMS1_uc010kar.2_Missense_Mutation_p.S564G|RIMS1_uc011dyd.1_Missense_Mutation_p.S630G|RIMS1_uc003pgf.2_Missense_Mutation_p.S496G|RIMS1_uc003pgg.2_Missense_Mutation_p.S392G|RIMS1_uc003pgi.2_Missense_Mutation_p.S312G|RIMS1_uc003pgh.2_Missense_Mutation_p.S363G|RIMS1_uc003pgd.2_Missense_Mutation_p.S562G|RIMS1_uc003pge.2_Missense_Mutation_p.S536G|RIMS1_uc011dye.1_Missense_Mutation_p.S302G|RIMS1_uc011dyf.1_Missense_Mutation_p.S120G|RIMS1_uc011dyg.1_Missense_Mutation_p.S23G	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1496					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---
OOEP	441161	broad.mit.edu	37	6	74079495	74079495	+	Silent	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74079495G>A	uc003pgu.3	-	1	21	c.21C>T	c.(19-21)GCC>GCT	p.A7A	OOEP_uc003pgv.3_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	7						cytoplasm					0																		---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131225628	131225628	+	Silent	SNP	A	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131225628A>C	uc003qch.2	-	6	1088	c.906T>G	c.(904-906)TCT>TCG	p.S302S	EPB41L2_uc003qcg.1_Silent_p.S302S|EPB41L2_uc011eby.1_Silent_p.S302S|EPB41L2_uc003qci.2_Silent_p.S302S|EPB41L2_uc010kfk.2_Silent_p.S302S|EPB41L2_uc010kfl.1_Silent_p.S302S	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	302	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)														---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165711567	165711567	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165711567C>T	uc003qum.3	-	5	996	c.960G>A	c.(958-960)GCG>GCA	p.A320A	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	320											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)														---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122303575	122303575	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122303575A>C	uc010lkp.2	-	3	665	c.502T>G	c.(502-504)TGT>GGT	p.C168G	CADPS2_uc010lkq.2_Missense_Mutation_p.C168G	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	168					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MSR1	4481	broad.mit.edu	37	8	16021714	16021714	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:16021714A>G	uc003wwz.2	-	5	875	c.677T>C	c.(676-678)ATT>ACT	p.I226T	MSR1_uc010lsu.2_Missense_Mutation_p.I244T|MSR1_uc003wxa.2_Missense_Mutation_p.I226T|MSR1_uc003wxb.2_Missense_Mutation_p.I226T|MSR1_uc011kxz.1_5'UTR	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	226	Potential.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)														---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82267638	82267638	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82267638G>C	uc004ald.2	+	7	1349	c.500G>C	c.(499-501)AGT>ACT	p.S167T	TLE4_uc004alc.2_Missense_Mutation_p.S174T|TLE4_uc010mpr.2_Missense_Mutation_p.S53T|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.S142T|TLE4_uc010mps.2_Missense_Mutation_p.S167T|TLE4_uc004alf.2_Missense_Mutation_p.S113T	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
PFKFB3	5209	broad.mit.edu	37	10	6265969	6265969	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:6265969C>T	uc001ije.2	+	12	1646	c.1262C>T	c.(1261-1263)ACG>ATG	p.T421M	PFKFB3_uc001ijd.2_Missense_Mutation_p.T401M|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.T435M|PFKFB3_uc001ijf.2_Missense_Mutation_p.T421M|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	421	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582826	55582826	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55582826G>T	uc001jju.1	-	33	5055	c.4660C>A	c.(4660-4662)CCC>ACC	p.P1554T	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1551T|PCDH15_uc010qhw.1_Missense_Mutation_p.P1514T|PCDH15_uc010qhx.1_Missense_Mutation_p.P1485T|PCDH15_uc010qhy.1_Missense_Mutation_p.P1561T|PCDH15_uc010qhz.1_Missense_Mutation_p.P1556T|PCDH15_uc010qia.1_Missense_Mutation_p.P1534T|PCDH15_uc010qib.1_Missense_Mutation_p.P1531T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1554	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60566791	60566791	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60566791A>C	uc001jki.1	+	17	2249	c.2249A>C	c.(2248-2250)GAG>GCG	p.E750A	BICC1_uc001jkj.1_Missense_Mutation_p.E391A	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	750					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105830281	105830281	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105830281C>T	uc001kxr.2	-	9	679	c.510G>A	c.(508-510)TCG>TCA	p.S170S	COL17A1_uc010qqv.1_Silent_p.S154S|COL17A1_uc009xxp.1_Silent_p.S170S	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	170	Cytoplasmic (Potential).|Nonhelical region (NC16).|Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117301568	117301568	+	Silent	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117301568G>A	uc001prh.1	-	32	5738	c.5736C>T	c.(5734-5736)GCC>GCT	p.A1912A		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1852	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	2024076	2024076	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2024076C>T	uc001qjp.2	-	2	484	c.253G>A	c.(253-255)GGC>AGC	p.G85S	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.G85S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	85	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)														---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6700638	6700638	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6700638A>G	uc001qpo.2	-	22	3498	c.3334T>C	c.(3334-3336)TTC>CTC	p.F1112L	CHD4_uc001qpn.2_Missense_Mutation_p.F1105L|CHD4_uc001qpp.2_Missense_Mutation_p.F1109L	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1112	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---
C1S	716	broad.mit.edu	37	12	7177629	7177629	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7177629C>T	uc001qsj.2	+	15	2460	c.1741C>T	c.(1741-1743)CGC>TGC	p.R581C	C1S_uc001qsk.2_Missense_Mutation_p.R581C|C1S_uc001qsl.2_Missense_Mutation_p.R581C|C1S_uc009zfr.2_Missense_Mutation_p.R414C|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	581	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)													---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103696020	103696020	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:103696020C>T	uc001tjt.2	-	6	1037	c.949G>A	c.(949-951)GGT>AGT	p.G317S	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.G317S|C12orf42_uc001tju.2_Missense_Mutation_p.G222S	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	317										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32912230	32912230	+	Silent	SNP	T	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32912230T>C	uc001uub.1	+	11	3965	c.3738T>C	c.(3736-3738)AAT>AAC	p.N1246N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1246	BRCA2 2.				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)			---	---	---	---
FOXO1	2308	broad.mit.edu	37	13	41134410	41134410	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41134410C>T	uc001uxl.3	-	2	1603	c.1218G>A	c.(1216-1218)TCG>TCA	p.S406S	FOXO1_uc010acc.1_Silent_p.S221S	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	406					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)														---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109717927	109717927	+	Intron	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109717927C>T	uc001vqt.1	+						MYO16_uc010agk.1_Intron|MYO16_uc010tjh.1_Intron	NM_015011	NP_055826			myosin heavy chain Myr 8						cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24841805	24841805	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24841805T>C	uc001wpc.2	+	3	1676	c.1355T>C	c.(1354-1356)GTC>GCC	p.V452A	NFATC4_uc010tok.1_Missense_Mutation_p.V515A|NFATC4_uc010tol.1_Missense_Mutation_p.V515A|NFATC4_uc010alr.2_Missense_Mutation_p.V515A|NFATC4_uc010als.2_Missense_Mutation_p.V465A|NFATC4_uc010tom.1_Missense_Mutation_p.V465A|NFATC4_uc010ton.1_Missense_Mutation_p.V465A|NFATC4_uc010too.1_Missense_Mutation_p.V465A|NFATC4_uc010alt.2_Missense_Mutation_p.V484A|NFATC4_uc010top.1_Missense_Mutation_p.V484A|NFATC4_uc010toq.1_Missense_Mutation_p.V484A|NFATC4_uc010alu.2_Missense_Mutation_p.V144A|NFATC4_uc010tor.1_Missense_Mutation_p.V452A|NFATC4_uc010tos.1_Missense_Mutation_p.V382A|NFATC4_uc010tot.1_Missense_Mutation_p.V440A|NFATC4_uc010tou.1_Missense_Mutation_p.V382A|NFATC4_uc010tov.1_Missense_Mutation_p.V440A|NFATC4_uc010tow.1_Missense_Mutation_p.V382A|NFATC4_uc010alv.2_Missense_Mutation_p.V440A|NFATC4_uc010tox.1_Missense_Mutation_p.V382A|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank|NFATC4_uc010tpa.1_5'Flank|NFATC4_uc010tpb.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	452	RHD.				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)														---	---	---	---
FBXO34	55030	broad.mit.edu	37	14	55818091	55818091	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55818091C>T	uc001xbu.2	+	2	1228	c.983C>T	c.(982-984)ACA>ATA	p.T328I	FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.T328I	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	328										ovary(2)|lung(2)|skin(1)	5																		---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64580300	64580300	+	Intron	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64580300G>A	uc001xgm.2	+						SYNE2_uc001xgl.2_Intron|SYNE2_uc010apy.2_Intron|SYNE2_uc010apz.1_Intron	NM_015180	NP_055995			spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70924424	70924424	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70924424C>G	uc001xmd.2	+	1	208	c.208C>G	c.(208-210)CAG>GAG	p.Q70E		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	70					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)														---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107013046	107013046	+	RNA	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107013046C>T	uc010tyt.1	-	169		c.8011G>A								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
APBA2	321	broad.mit.edu	37	15	29398846	29398846	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:29398846G>A	uc001zck.2	+	11	1948	c.1741G>A	c.(1741-1743)GTG>ATG	p.V581M	APBA2_uc010azj.2_Missense_Mutation_p.V569M|APBA2_uc010uat.1_Missense_Mutation_p.V569M|APBA2_uc001zcl.2_Missense_Mutation_p.V569M	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	581	PDZ 1.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33855070	33855070	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33855070G>T	uc001zhi.2	+	11	1075	c.1005G>T	c.(1003-1005)AAG>AAT	p.K335N	RYR3_uc010bar.2_Missense_Mutation_p.K335N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	335	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
PRTG	283659	broad.mit.edu	37	15	56032705	56032705	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56032705C>T	uc002adg.2	-	2	320	c.272G>A	c.(271-273)GGC>GAC	p.G91D		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	91	Ig-like 1.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)														---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65693267	65693267	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65693267T>A	uc002aou.1	-	5	928	c.718A>T	c.(718-720)AGG>TGG	p.R240W		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	240	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3																OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238039	69238039	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69238039A>G	uc002arn.1	+	2	294	c.166A>G	c.(166-168)AAA>GAA	p.K56E	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	56					multicellular organismal development	acrosomal vesicle					0																		---	---	---	---
EFTUD1	79631	broad.mit.edu	37	15	82523297	82523297	+	Silent	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82523297G>A	uc002bgt.1	-	8	916	c.747C>T	c.(745-747)GCC>GCT	p.A249A	EFTUD1_uc002bgu.1_Silent_p.A198A	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	249					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1																		---	---	---	---
FES	2242	broad.mit.edu	37	15	91432780	91432780	+	Missense_Mutation	SNP	C	A	A	rs111243334		TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91432780C>A	uc002bpv.2	+	7	936	c.840C>A	c.(838-840)TTC>TTA	p.F280L	FES_uc010uqj.1_Missense_Mutation_p.F222L|FES_uc010uqk.1_Missense_Mutation_p.F262L|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.F222L|FES_uc002bpx.2_Missense_Mutation_p.F280L|FES_uc002bpy.2_Missense_Mutation_p.F222L	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	280	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
MSLN	10232	broad.mit.edu	37	16	818576	818576	+	Intron	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:818576C>T	uc002cjw.1	+						MSLN_uc002cjt.1_Intron|MSLN_uc002cju.1_Intron|MSLN_uc010brd.1_Intron|MSLN_uc002cjv.1_Intron|MSLN_uc002cjx.1_Intron|MSLN_uc002cjy.1_Silent_p.G263G|MIR662_hsa-mir-662|MI0003670_5'Flank	NM_013404	NP_037536			mesothelin isoform 2 preproprotein						cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)																---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51173663	51173663	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51173663A>C	uc010vgs.1	-	2	2501	c.2470T>G	c.(2470-2472)TTC>GTC	p.F824V	SALL1_uc010vgr.1_Missense_Mutation_p.F727V|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	824					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)															---	---	---	---
RLTPR	146206	broad.mit.edu	37	16	67688711	67688711	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67688711C>T	uc002etn.2	+	32	3733	c.3613C>T	c.(3613-3615)CTG>TTG	p.L1205L	RLTPR_uc010vjr.1_Silent_p.L1169L	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	1205										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)														---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72822363	72822363	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72822363G>A	uc002fck.2	-	10	10485	c.9812C>T	c.(9811-9813)ACG>ATG	p.T3271M	ZFHX3_uc002fcl.2_Missense_Mutation_p.T2357M	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3271					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
MAP2K4	6416	broad.mit.edu	37	17	12043181	12043181	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:12043181C>T	uc002gnj.2	+	10	1135	c.1066C>T	c.(1066-1068)CCA>TCA	p.P356S	MAP2K4_uc002gnk.2_Missense_Mutation_p.P367S|MAP2K4_uc010vvi.1_Missense_Mutation_p.P238S|MAP2K4_uc010vvj.1_Missense_Mutation_p.P228S	NM_003010	NP_003001	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	356	Protein kinase.			P -> L (in Ref. 10; AAH60764).	cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)				D|Mis|N		pancreatic|breast|colorectal								---	---	---	---
KRT26	353288	broad.mit.edu	37	17	38927394	38927394	+	Intron	SNP	G	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38927394G>T	uc002hvf.2	-							NM_181539	NP_853517			keratin 26							intermediate filament	structural molecule activity				0		Breast(137;0.00526)																---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435766	56435766	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56435766G>T	uc002iwf.2	-	8	3327	c.1371C>A	c.(1369-1371)TAC>TAA	p.Y457*	RNF43_uc010wnv.1_Nonsense_Mutation_p.Y416*|RNF43_uc002iwh.3_Nonsense_Mutation_p.Y457*|RNF43_uc002iwg.3_Nonsense_Mutation_p.Y457*|RNF43_uc010dcw.2_Nonsense_Mutation_p.Y330*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	457	Cytoplasmic (Potential).|Ser-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56569162	56569162	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56569162C>T	uc002iwj.2	-	19	3560	c.3450G>A	c.(3448-3450)CTG>CTA	p.L1150L		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1150	FYVE-type.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65899995	65899995	+	Silent	SNP	A	G	G			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65899995A>G	uc002jgf.2	+	8	2695	c.2634A>G	c.(2632-2634)CAA>CAG	p.Q878Q	BPTF_uc002jge.2_Silent_p.Q1004Q|BPTF_uc010wqm.1_Silent_p.Q941Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1004	Potential.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
METTL4	64863	broad.mit.edu	37	18	2544689	2544689	+	Silent	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2544689G>A	uc002klh.3	-	7	1924	c.1144C>T	c.(1144-1146)CTG>TTG	p.L382L	METTL4_uc010dkj.2_Intron	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	382					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2																		---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31263444	31263444	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31263444G>A	uc010dmg.1	+	8	846	c.791G>A	c.(790-792)AGG>AAG	p.R264K	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
CCDC94	55702	broad.mit.edu	37	19	4249236	4249236	+	Silent	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4249236G>A	uc002lzv.3	+	2	69	c.36G>A	c.(34-36)CCG>CCA	p.P12P		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	12											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)														---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12767489	12767489	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12767489C>T	uc002mub.2	-	13	1616	c.1540G>A	c.(1540-1542)GTT>ATT	p.V514I	MAN2B1_uc010dyv.1_Missense_Mutation_p.V513I	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	514					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12969456	12969456	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12969456C>T	uc002mvm.2	+	12	1397	c.1269C>T	c.(1267-1269)CGC>CGT	p.R423R	MAST1_uc002mvk.2_Silent_p.R419R	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	423	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7																		---	---	---	---
TMEM59L	25789	broad.mit.edu	37	19	18727858	18727858	+	Missense_Mutation	SNP	C	T	T	rs150479603	byFrequency;by1000genomes	TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18727858C>T	uc002njy.3	+	5	697	c.610C>T	c.(610-612)CGC>TGC	p.R204C	TMEM59L_uc010ebu.1_Missense_Mutation_p.R204C	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	204						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4																		---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36215974	36215974	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36215974C>T	uc010eei.2	+	11	3514	c.3514C>T	c.(3514-3516)CGT>TGT	p.R1172C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1172					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36216527	36216527	+	Splice_Site	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36216527G>A	uc010eei.2	+	13	3789	c.3789_splice	c.e13+1	p.K1263_splice		NM_014727	NP_055542			myeloid/lymphoid or mixed-lineage leukemia 4						chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
CEACAM4	1089	broad.mit.edu	37	19	42128059	42128059	+	Silent	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42128059G>A	uc002orh.1	-	3	618	c.507C>T	c.(505-507)GCC>GCT	p.A169A	CEACAM4_uc010xwd.1_Silent_p.A169A	NM_001817	NP_001808	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion	169	Helical; (Potential).					integral to plasma membrane|membrane fraction					0																		---	---	---	---
VRK3	51231	broad.mit.edu	37	19	50519372	50519372	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50519372G>C	uc002prg.2	-	3	146	c.48C>G	c.(46-48)TTC>TTG	p.F16L	VRK3_uc002prh.1_Missense_Mutation_p.F16L|VRK3_uc002pri.1_Missense_Mutation_p.F16L|VRK3_uc010ens.2_Missense_Mutation_p.F16L|VRK3_uc010ybl.1_Missense_Mutation_p.F16L|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prj.1_Missense_Mutation_p.F16L|VRK3_uc002prk.1_Missense_Mutation_p.F16L|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Missense_Mutation_p.F16L|VRK3_uc010ybn.1_Missense_Mutation_p.F16L	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	16						nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)														---	---	---	---
KLK8	11202	broad.mit.edu	37	19	51503769	51503769	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51503769C>T	uc002pur.1	-	3	320	c.141G>A	c.(139-141)CAG>CAA	p.Q47Q	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Silent_p.Q92Q|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.Q47Q|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	47	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)														---	---	---	---
ZNF584	201514	broad.mit.edu	37	19	58928997	58928997	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58928997G>A	uc002qsp.2	+	4	1564	c.1112G>A	c.(1111-1113)CGG>CAG	p.R371Q	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Missense_Mutation_p.R326Q|ZNF584_uc010yib.1_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	371	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)														---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31022999	31022999	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31022999C>T	uc002wxs.2	+	12	2910	c.2484C>T	c.(2482-2484)GGC>GGT	p.G828G	ASXL1_uc010geb.2_Silent_p.G719G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	828					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248								F|N|Mis		MDS|CMML								---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35672579	35672579	+	Silent	SNP	T	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35672579T>C	uc002xgi.2	-	13	1759	c.1680A>G	c.(1678-1680)GAA>GAG	p.E560E	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.E560E	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	560	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)																---	---	---	---
EYA2	2139	broad.mit.edu	37	20	45801351	45801351	+	Intron	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45801351G>A	uc002xsm.2	+						EYA2_uc010ghp.2_Intron|EYA2_uc002xsn.2_Intron|EYA2_uc002xso.2_Intron|EYA2_uc002xsp.2_Intron|EYA2_uc002xsq.2_Intron	NM_005244	NP_005235			eyes absent 2 isoform a						DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)																---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43539418	43539418	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43539418C>T	uc002zaf.1	+	15	2673	c.2673C>T	c.(2671-2673)GGC>GGT	p.G891G	UMODL1_uc002zad.1_Silent_p.G819G|UMODL1_uc002zae.1_Silent_p.G947G|UMODL1_uc002zag.1_Silent_p.G1019G|UMODL1_uc002zal.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	891	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
RBBP7	5931	broad.mit.edu	37	X	16876898	16876898	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16876898G>A	uc004cxt.2	-	4	740	c.382C>T	c.(382-384)CGT>TGT	p.R128C	RBBP7_uc004cxs.1_Missense_Mutation_p.R172C|RBBP7_uc004cxu.2_Missense_Mutation_p.R119C|RBBP7_uc010nez.2_5'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	128	WD 2.				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)																	---	---	---	---
C1GALT1C1	29071	broad.mit.edu	37	X	119760593	119760593	+	Silent	SNP	T	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119760593T>C	uc004esy.2	-	3	776	c.429A>G	c.(427-429)GCA>GCG	p.A143A	C1GALT1C1_uc004esz.2_Silent_p.A143A	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	143	Lumenal (Potential).					integral to membrane					0																		---	---	---	---
FHL1	2273	broad.mit.edu	37	X	135292021	135292021	+	Intron	SNP	T	C	C			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135292021T>C	uc004ezo.2	+						FHL1_uc010nrz.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc011mvz.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron	NM_001159702	NP_001153174			four and a half LIM domains 1 isoform 1						cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)															OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PCDH11Y	83259	broad.mit.edu	37	Y	4925026	4925026	+	Silent	SNP	C	T	T			TCGA-CG-5720-01A-11D-1600-08	TCGA-CG-5720-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:4925026C>T	uc004fqo.2	+	1	896	c.162C>T	c.(160-162)GGC>GGT	p.G54G	PCDH11Y_uc010nwg.1_Silent_p.G43G|PCDH11Y_uc004fql.1_Silent_p.G43G|PCDH11Y_uc004fqm.1_Silent_p.G43G|PCDH11Y_uc004fqn.1_Silent_p.G54G	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	54	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0																		---	---	---	---
