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	dataset	MUTSIG_Significant_Genes	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
CLCNKA	1187	broad.mit.edu	37	1	16352615	16352616	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16352615_16352616CG>AT	uc001axu.2	+	5	451_452	c.371_372CG>AT	c.(370-372)CCG>CAT	p.P124H	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.P124H|CLCNKA_uc010obw.1_Missense_Mutation_p.P81H|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	124					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)													---	---	---	---	capture		Missense_Mutation	DNP	16352615	16352616	3605	1	CG	AT	AT	23	23	CLCNKA	AT	1	1
DPY19L2	283417	broad.mit.edu	37	12	64061895	64061896	+	Missense_Mutation	DNP	CC	AT	AT	rs111719532		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64061895_64061896CC>AT	uc001srp.1	-	1	459_460	c.278_279GG>AT	c.(277-279)CGG>CAT	p.R93H	DPY19L2_uc009zqk.1_RNA	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	93					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)														---	---	---	---	capture		Missense_Mutation	DNP	64061895	64061896	4925	12	CC	AT	AT	22	22	DPY19L2	AT	2	2
RPL10L	140801	broad.mit.edu	37	14	47120930	47120931	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:47120930_47120931GG>TT	uc001wwg.2	-	1	98_99	c.9_10CC>AA	c.(7-12)CGCCGT>CGAAGT	p.R4S		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	4					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	DNP	47120930	47120931	14035	14	GG	TT	TT	39	39	RPL10L	TT	1	1
TMC5	79838	broad.mit.edu	37	16	19481080	19481081	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19481080_19481081GG>CT	uc002dgc.3	+	10	2464_2465	c.1715_1716GG>CT	c.(1714-1716)TGG>TCT	p.W572S	TMC5_uc010vaq.1_Missense_Mutation_p.W572S|TMC5_uc002dgb.3_Missense_Mutation_p.W572S|TMC5_uc010var.1_Missense_Mutation_p.W572S|TMC5_uc002dgd.1_Missense_Mutation_p.W326S|TMC5_uc002dge.3_Missense_Mutation_p.W326S|TMC5_uc002dgf.3_Missense_Mutation_p.W255S|TMC5_uc002dgg.3_Missense_Mutation_p.W213S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	572	Cytoplasmic (Potential).					integral to membrane				skin(1)	1																		---	---	---	---	capture		Missense_Mutation	DNP	19481080	19481081	16518	16	GG	CT	CT	47	47	TMC5	CT	3	3
RALGAPA2	57186	broad.mit.edu	37	20	20505152	20505153	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20505152_20505153CC>AA	uc002wrz.2	-	30	3940_3941	c.3797_3798GG>TT	c.(3796-3798)TGG>TTT	p.W1266F	RALGAPA2_uc010gcx.2_Missense_Mutation_p.W970F|RALGAPA2_uc010zsg.1_Missense_Mutation_p.W714F|RALGAPA2_uc002wsa.1_Missense_Mutation_p.W38F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1266					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	DNP	20505152	20505153	13474	20	CC	AA	AA	18	18	RALGAPA2	AA	2	2
DNAH5	1767	broad.mit.edu	37	5	13719032	13719033	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13719032_13719033GG>TT	uc003jfd.2	-	72	12499_12500	c.12457_12458CC>AA	c.(12457-12459)CCT>AAT	p.P4153N	DNAH5_uc003jfc.2_Missense_Mutation_p.P321N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4153	AAA 6 (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				---	---	---	---	capture		Missense_Mutation	DNP	13719032	13719033	4787	5	GG	TT	TT	35	35	DNAH5	TT	2	2
GFPT2	9945	broad.mit.edu	37	5	179757699	179757700	+	Splice_Site	DNP	CC	AA	AA			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179757699_179757700CC>AA	uc003mlw.1	-	6	632	c.534_splice	c.e6+1	p.L178_splice		NM_005110	NP_005101			glutamine-fructose-6-phosphate transaminase 2						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)													---	---	---	---	capture		Splice_Site	DNP	179757699	179757700	6614	5	CC	AA	AA	18	18	GFPT2	AA	5	2
RBMX	27316	broad.mit.edu	37	X	135961564	135961565	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135961564_135961565CC>AA	uc004fae.1	-	2	232_233	c.22_23GG>TT	c.(22-24)GGA>TTA	p.G8L	RBMX_uc011mwf.1_Missense_Mutation_p.G8L|RBMX_uc004fad.1_Missense_Mutation_p.G8L|RBMX_uc011mwg.1_5'UTR|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	8	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	DNP	135961564	135961565	13613	23	CC	AA	AA	30	30	RBMX	AA	2	2
FLNA	2316	broad.mit.edu	37	X	153588595	153588596	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153588595_153588596TG>CT	uc004fkk.2	-	22	3816_3817	c.3567_3568CA>AG	c.(3565-3570)GGCAGC>GGAGGC	p.S1190G	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.S1190G	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1190	Filamin 10.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)															OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---	capture		Missense_Mutation	DNP	153588595	153588596	6175	23	TG	CT	CT	55	55	FLNA	CT	4	4
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1019055_1019056delCA	uc003gce.2	+	7	1596_1597	c.1435_1436delCA	c.(1435-1437)CACfs	p.H479fs	FGFRL1_uc003gcf.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.2_Frame_Shift_Del_p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.|Cytoplasmic (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---	capture_indel		Frame_Shift_Del	DEL	1019055	1019056	6106	4	CA	-	-	21	21	FGFRL1	-	5	5
PANK4	55229	broad.mit.edu	37	1	2452215	2452215	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2452215G>T	uc001ajm.1	-	4	562	c.553C>A	c.(553-555)CAC>AAC	p.H185N	PANK4_uc010nza.1_Missense_Mutation_p.H146N	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	185					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---	capture		Missense_Mutation	SNP	2452215	2452215	11836	1	G	T	T	47	47	PANK4	T	2	2
ARHGEF16	27237	broad.mit.edu	37	1	3390011	3390011	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3390011G>T	uc001akg.3	+	8	1478	c.1230G>T	c.(1228-1230)GCG>GCT	p.A410A	ARHGEF16_uc001aki.2_Silent_p.A122A|ARHGEF16_uc001akj.2_Silent_p.A122A|ARHGEF16_uc009vli.1_Silent_p.A114A|ARHGEF16_uc010nzh.1_Silent_p.A114A	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	410	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---	capture		Silent	SNP	3390011	3390011	913	1	G	T	T	40	40	ARHGEF16	T	1	1
FBLIM1	54751	broad.mit.edu	37	1	16101265	16101265	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16101265G>T	uc001axd.1	+	8	1307	c.864G>T	c.(862-864)GAG>GAT	p.E288D	FBLIM1_uc001axe.1_Missense_Mutation_p.E288D|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.E288D|FBLIM1_uc001axh.1_Missense_Mutation_p.E191D|FBLIM1_uc001axi.1_Missense_Mutation_p.E191D	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	288	PLEKHC1-binding.|LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|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;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)														---	---	---	---	capture		Missense_Mutation	SNP	16101265	16101265	5933	1	G	T	T	35	35	FBLIM1	T	2	2
NBPF1	55672	broad.mit.edu	37	1	16907280	16907280	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16907280G>T	uc009vos.1	-	16	2439	c.1551C>A	c.(1549-1551)TCC>TCA	p.S517S	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Silent_p.S246S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	517	NBPF 2.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)														---	---	---	---	capture		Silent	SNP	16907280	16907280	10588	1	G	T	T	35	35	NBPF1	T	2	2
PADI1	29943	broad.mit.edu	37	1	17566199	17566199	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17566199G>T	uc001bah.1	+	14	1645	c.1553G>T	c.(1552-1554)GGG>GTG	p.G518V	PADI1_uc010oco.1_Missense_Mutation_p.G75V|PADI1_uc010ocp.1_Missense_Mutation_p.G75V|PADI1_uc010ocq.1_5'UTR|PADI1_uc009vpb.1_5'UTR	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	518					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)													---	---	---	---	capture		Missense_Mutation	SNP	17566199	17566199	11793	1	G	T	T	43	43	PADI1	T	2	2
ACTL8	81569	broad.mit.edu	37	1	18152822	18152822	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18152822C>A	uc001bat.2	+	3	1125	c.909C>A	c.(907-909)CTC>CTA	p.L303L		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	303						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)												OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	18152822	18152822	203	1	C	A	A	32	32	ACTL8	A	2	2
KIF17	57576	broad.mit.edu	37	1	21009181	21009181	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21009181C>T	uc001bdr.3	-	11	2546	c.2428G>A	c.(2428-2430)GCC>ACC	p.A810T	KIF17_uc001bdp.3_Missense_Mutation_p.A88T|KIF17_uc001bdq.3_Missense_Mutation_p.A88T|KIF17_uc009vpx.2_Missense_Mutation_p.A180T|KIF17_uc001bds.3_Missense_Mutation_p.A810T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	810	Potential.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)														---	---	---	---	capture		Missense_Mutation	SNP	21009181	21009181	8590	1	C	T	T	26	26	KIF17	T	2	2
USP48	84196	broad.mit.edu	37	1	22079485	22079485	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22079485C>A	uc001bfb.2	-	4	778	c.540G>T	c.(538-540)CAG>CAT	p.Q180H	USP48_uc010odq.1_Missense_Mutation_p.Q180H|USP48_uc009vqc.2_Missense_Mutation_p.Q180H|USP48_uc001bfc.2_Missense_Mutation_p.Q180H|USP48_uc001bfe.1_Missense_Mutation_p.Q180H|USP48_uc001bff.2_Missense_Mutation_p.Q180H	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	180					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)														---	---	---	---	capture		Missense_Mutation	SNP	22079485	22079485	17643	1	C	A	A	24	24	USP48	A	2	2
ASAP3	55616	broad.mit.edu	37	1	23759723	23759723	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23759723C>A	uc001bha.2	-	22	2294	c.2170G>T	c.(2170-2172)GGG>TGG	p.G724W	ASAP3_uc001bgy.1_Missense_Mutation_p.G228W|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.G614W|ASAP3_uc010oea.1_Missense_Mutation_p.G715W|ASAP3_uc001bhb.2_Missense_Mutation_p.G247W	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	724					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	23759723	23759723	1030	1	C	A	A	21	21	ASAP3	A	2	2
S100PBP	64766	broad.mit.edu	37	1	33291859	33291859	+	Silent	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33291859C>T	uc001bvz.2	+	3	436	c.159C>T	c.(157-159)TAC>TAT	p.Y53Y	S100PBP_uc001bwa.1_Silent_p.Y53Y|S100PBP_uc001bwb.1_Silent_p.Y53Y|S100PBP_uc001bwc.2_Silent_p.Y53Y|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	53						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)																---	---	---	---	capture		Silent	SNP	33291859	33291859	14271	1	C	T	T	17	17	S100PBP	T	2	2
THRAP3	9967	broad.mit.edu	37	1	36755023	36755023	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36755023C>A	uc001cae.3	+	5	1627	c.1403C>A	c.(1402-1404)TCA>TAA	p.S468*	THRAP3_uc001caf.3_Nonsense_Mutation_p.S468*|THRAP3_uc001cag.1_Nonsense_Mutation_p.S468*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	468					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)						T	USP6	aneurysmal bone cysts								---	---	---	---	capture		Nonsense_Mutation	SNP	36755023	36755023	16402	1	C	A	A	29	29	THRAP3	A	5	2
MACF1	23499	broad.mit.edu	37	1	39801599	39801599	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39801599C>A	uc010oiu.1	+	1	4790	c.4659C>A	c.(4657-4659)CAC>CAA	p.H1553Q	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3118					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---	capture		Missense_Mutation	SNP	39801599	39801599	9521	1	C	A	A	20	20	MACF1	A	2	2
SMAP2	64744	broad.mit.edu	37	1	40887666	40887666	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40887666G>T	uc001cfj.2	+	10	1248	c.1183G>T	c.(1183-1185)GGG>TGG	p.G395W	SMAP2_uc001cfk.2_Missense_Mutation_p.G365W|SMAP2_uc010oji.1_Missense_Mutation_p.G312W|SMAP2_uc010ojj.1_Missense_Mutation_p.G211W	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	395	Interaction with PICALM (By similarity).|Met-rich.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---	capture		Missense_Mutation	SNP	40887666	40887666	15265	1	G	T	T	47	47	SMAP2	T	2	2
HIVEP3	59269	broad.mit.edu	37	1	42048104	42048104	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42048104C>G	uc001cgz.3	-	4	3578	c.2365G>C	c.(2365-2367)GAG>CAG	p.E789Q	HIVEP3_uc001cha.3_Missense_Mutation_p.E789Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	789	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---	capture		Missense_Mutation	SNP	42048104	42048104	7479	1	C	G	G	30	30	HIVEP3	G	3	3
HIVEP3	59269	broad.mit.edu	37	1	42048678	42048678	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42048678C>A	uc001cgz.3	-	4	3004	c.1791G>T	c.(1789-1791)TTG>TTT	p.L597F	HIVEP3_uc001cha.3_Missense_Mutation_p.L597F|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	597	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---	capture		Missense_Mutation	SNP	42048678	42048678	7479	1	C	A	A	21	21	HIVEP3	A	2	2
TIE1	7075	broad.mit.edu	37	1	43782880	43782880	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43782880C>T	uc001ciu.2	+	15	2499	c.2420C>T	c.(2419-2421)ACC>ATC	p.T807I	TIE1_uc010oke.1_Missense_Mutation_p.T762I|TIE1_uc009vwq.2_Missense_Mutation_p.T763I|TIE1_uc010okg.1_Missense_Mutation_p.T452I	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	807	Cytoplasmic (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---	capture		Missense_Mutation	SNP	43782880	43782880	16421	1	C	T	T	18	18	TIE1	T	2	2
MAST2	23139	broad.mit.edu	37	1	46487681	46487681	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46487681G>T	uc001cov.2	+	12	1633	c.1350G>T	c.(1348-1350)GAG>GAT	p.E450D	MAST2_uc001cow.2_Missense_Mutation_p.E450D|MAST2_uc001coy.1_Missense_Mutation_p.E124D|MAST2_uc001coz.1_Missense_Mutation_p.E335D|MAST2_uc009vya.2_Missense_Mutation_p.E372D|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	450					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---	capture		Missense_Mutation	SNP	46487681	46487681	9709	1	G	T	T	35	35	MAST2	T	2	2
MAST2	23139	broad.mit.edu	37	1	46491381	46491381	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46491381G>T	uc001cov.2	+	16	2096	c.1813G>T	c.(1813-1815)GGG>TGG	p.G605W	MAST2_uc001cow.2_Missense_Mutation_p.G605W|MAST2_uc001coy.1_Missense_Mutation_p.G279W|MAST2_uc001coz.1_Missense_Mutation_p.G490W|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	605	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---	capture		Missense_Mutation	SNP	46491381	46491381	9709	1	G	T	T	47	47	MAST2	T	2	2
STIL	6491	broad.mit.edu	37	1	47717149	47717149	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47717149G>T	uc001crc.1	-	17	3678	c.3523C>A	c.(3523-3525)CAT>AAT	p.H1175N	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.H1129N|STIL_uc010omo.1_Missense_Mutation_p.H1158N|STIL_uc001crd.1_Missense_Mutation_p.H1176N|STIL_uc001cre.1_Missense_Mutation_p.H1175N	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1175					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---	capture		Missense_Mutation	SNP	47717149	47717149	15802	1	G	T	T	47	47	STIL	T	2	2
LRP8	7804	broad.mit.edu	37	1	53728158	53728158	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53728158C>A	uc001cvi.1	-	11	1876	c.1734G>T	c.(1732-1734)CTG>CTT	p.L578L	LRP8_uc001cvh.1_Silent_p.L131L|LRP8_uc001cvk.1_Silent_p.L408L|LRP8_uc001cvj.1_Silent_p.L578L|LRP8_uc001cvl.1_Silent_p.L449L|LRP8_uc001cvm.1_Silent_p.L163L	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	578	LDL-receptor class B 3.|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0																		---	---	---	---	capture		Silent	SNP	53728158	53728158	9336	1	C	A	A	21	21	LRP8	A	2	2
C8B	732	broad.mit.edu	37	1	57409428	57409428	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57409428A>T	uc001cyp.2	-	8	1242	c.1175T>A	c.(1174-1176)GTC>GAC	p.V392D	C8B_uc010oon.1_Missense_Mutation_p.V330D|C8B_uc010ooo.1_Missense_Mutation_p.V340D	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	392	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	57409428	57409428	2526	1	A	T	T	10	10	C8B	T	4	4
CYP2J2	1573	broad.mit.edu	37	1	60370591	60370591	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60370591G>T	uc001czq.2	-	7	1148	c.1143C>A	c.(1141-1143)CCC>CCA	p.P381P		NM_000775	NP_000766	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J,	381					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			ovary(1)	1	all_cancers(7;0.000396)																	---	---	---	---	capture		Silent	SNP	60370591	60370591	4337	1	G	T	T	47	47	CYP2J2	T	2	2
LPAR3	23566	broad.mit.edu	37	1	85331262	85331262	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85331262G>T	uc001dkl.2	-	1	581	c.542C>A	c.(541-543)CCC>CAC	p.P181H	LPAR3_uc009wcj.1_Missense_Mutation_p.P181H	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	181	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	85331262	85331262	9279	1	G	T	T	43	43	LPAR3	T	2	2
ABCA4	24	broad.mit.edu	37	1	94528780	94528780	+	Nonsense_Mutation	SNP	C	A	A	rs61748558		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94528780C>A	uc001dqh.2	-	12	1752	c.1648G>T	c.(1648-1650)GGA>TGA	p.G550*	ABCA4_uc010otn.1_Nonsense_Mutation_p.G550*	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	550	Extracellular.		G -> R (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)														---	---	---	---	capture		Nonsense_Mutation	SNP	94528780	94528780	35	1	C	A	A	23	23	ABCA4	A	5	1
MYBPHL	343263	broad.mit.edu	37	1	109839440	109839440	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109839440G>T	uc001dxk.1	-	5	745	c.695C>A	c.(694-696)CCC>CAC	p.P232H	MYBPHL_uc010ovh.1_Missense_Mutation_p.P209H|MYBPHL_uc001dxl.2_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	232	Fibronectin type-III.									ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)														---	---	---	---	capture		Missense_Mutation	SNP	109839440	109839440	10410	1	G	T	T	43	43	MYBPHL	T	2	2
AHCYL1	10768	broad.mit.edu	37	1	110563394	110563394	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110563394C>A	uc001dyx.2	+	16	1874	c.1507C>A	c.(1507-1509)CAC>AAC	p.H503N	AHCYL1_uc010ovw.1_Missense_Mutation_p.H456N|AHCYL1_uc001dyy.2_Missense_Mutation_p.H456N|AHCYL1_uc010ovx.1_Missense_Mutation_p.H456N	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	503					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)														---	---	---	---	capture		Missense_Mutation	SNP	110563394	110563394	413	1	C	A	A	21	21	AHCYL1	A	2	2
SLC6A17	388662	broad.mit.edu	37	1	110719277	110719277	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110719277C>A	uc009wfq.2	+	6	1241	c.780C>A	c.(778-780)CCC>CCA	p.P260P		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	260	Helical; Name=5; (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)														---	---	---	---	capture		Silent	SNP	110719277	110719277	15177	1	C	A	A	24	24	SLC6A17	A	2	2
PHGDH	26227	broad.mit.edu	37	1	120263815	120263815	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120263815G>C	uc001ehz.2	+	2	388	c.161G>C	c.(160-162)CGC>CCC	p.R54P	PHGDH_uc009whl.2_5'UTR|PHGDH_uc009whm.2_5'UTR|PHGDH_uc001eia.2_Missense_Mutation_p.R54P|PHGDH_uc009whn.2_Missense_Mutation_p.R54P|PHGDH_uc001eib.2_Missense_Mutation_p.R20P	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	54					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	120263815	120263815	12264	1	G	C	C	38	38	PHGDH	C	3	3
ITGA10	8515	broad.mit.edu	37	1	145534126	145534126	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145534126C>A	uc001eoa.2	+	14	1707	c.1631C>A	c.(1630-1632)CCC>CAC	p.P544H	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.P413H|ITGA10_uc009wiw.2_Missense_Mutation_p.P401H|ITGA10_uc010oyw.1_Missense_Mutation_p.P489H	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	544	Extracellular (Potential).|FG-GAP 6.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---	capture		Missense_Mutation	SNP	145534126	145534126	8177	1	C	A	A	22	22	ITGA10	A	2	2
ANKRD35	148741	broad.mit.edu	37	1	145561622	145561622	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145561622G>T	uc001eob.1	+	10	1418	c.1310G>T	c.(1309-1311)AGG>ATG	p.R437M	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.R280M	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	437										ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---	capture		Missense_Mutation	SNP	145561622	145561622	672	1	G	T	T	35	35	ANKRD35	T	2	2
ECM1	1893	broad.mit.edu	37	1	150484252	150484252	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150484252G>T	uc001eus.2	+	7	1227	c.1028G>T	c.(1027-1029)AGG>ATG	p.R343M	ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Missense_Mutation_p.R372M|ECM1_uc001euv.2_Missense_Mutation_p.R370M|ECM1_uc009wlu.2_Missense_Mutation_p.R103M	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	343	2 X approximate repeats.|2.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	150484252	150484252	5084	1	G	T	T	35	35	ECM1	T	2	2
PIP5K1A	8394	broad.mit.edu	37	1	151214701	151214701	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151214701G>T	uc001exj.2	+	13	1918	c.1466G>T	c.(1465-1467)GGG>GTG	p.G489V	PIP5K1A_uc001exi.2_Missense_Mutation_p.G476V|PIP5K1A_uc010pcu.1_Missense_Mutation_p.G449V|PIP5K1A_uc001exk.2_Intron|PIP5K1A_uc010pcv.1_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	489					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	151214701	151214701	12363	1	G	T	T	43	43	PIP5K1A	T	2	2
MRPL9	65005	broad.mit.edu	37	1	151733970	151733970	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151733970C>A	uc001eyv.2	-	5	630	c.545G>T	c.(544-546)TGG>TTG	p.W182L	MRPL9_uc009wmz.2_RNA	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9 precursor	182					translation	mitochondrial ribosome	structural constituent of ribosome			ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	151733970	151733970	10213	1	C	A	A	21	21	MRPL9	A	2	2
RPTN	126638	broad.mit.edu	37	1	152128552	152128552	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152128552G>T	uc001ezs.1	-	3	1088	c.1023C>A	c.(1021-1023)TCC>TCA	p.S341S		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	341	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---	capture		Silent	SNP	152128552	152128552	14144	1	G	T	T	43	43	RPTN	T	2	2
FLG	2312	broad.mit.edu	37	1	152285911	152285911	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152285911C>G	uc001ezu.1	-	3	1487	c.1451G>C	c.(1450-1452)CGG>CCG	p.R484P	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	484	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Missense_Mutation	SNP	152285911	152285911	6160	1	C	G	G	23	23	FLG	G	3	3
LCE3D	84648	broad.mit.edu	37	1	152552178	152552178	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152552178C>A	uc001fab.2	-	2	292	c.235G>T	c.(235-237)GGC>TGC	p.G79C		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	79					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)														---	---	---	---	capture		Missense_Mutation	SNP	152552178	152552178	8995	1	C	A	A	24	24	LCE3D	A	2	2
ASH1L	55870	broad.mit.edu	37	1	155448861	155448861	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155448861C>A	uc009wqq.2	-	3	4280	c.3800G>T	c.(3799-3801)AGG>ATG	p.R1267M	ASH1L_uc001fkt.2_Missense_Mutation_p.R1267M|ASH1L_uc009wqr.1_Missense_Mutation_p.R1267M	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1267					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---	capture		Missense_Mutation	SNP	155448861	155448861	1060	1	C	A	A	24	24	ASH1L	A	2	2
KIRREL	55243	broad.mit.edu	37	1	158057651	158057651	+	Splice_Site	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158057651G>C	uc001frn.3	+	6	1171	c.767_splice	c.e6+1	p.R256_splice	KIRREL_uc010pib.1_Splice_Site_p.R156_splice|KIRREL_uc009wsq.2_Splice_Site_p.R92_splice|KIRREL_uc001fro.3_Splice_Site_p.R54_splice	NM_018240	NP_060710			kin of IRRE like precursor							integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)															OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Splice_Site	SNP	158057651	158057651	8636	1	G	C	C	44	44	KIRREL	C	5	3
MNDA	4332	broad.mit.edu	37	1	158815425	158815425	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158815425C>T	uc001fsz.1	+	5	819	c.619C>T	c.(619-621)CCC>TCC	p.P207S		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	207	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	158815425	158815425	10067	1	C	T	T	30	30	MNDA	T	2	2
MYOC	4653	broad.mit.edu	37	1	171621186	171621186	+	Missense_Mutation	SNP	C	A	A	rs144579767		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171621186C>A	uc001ghu.2	-	1	588	c.566G>T	c.(565-567)CGA>CTA	p.R189L	MYOC_uc010pmk.1_Missense_Mutation_p.R131L	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	189			R -> Q.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---	capture		Missense_Mutation	SNP	171621186	171621186	10481	1	C	A	A	31	31	MYOC	A	1	1
TNN	63923	broad.mit.edu	37	1	175053048	175053048	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175053048C>G	uc001gkl.1	+	5	1324	c.1211C>G	c.(1210-1212)CCC>CGC	p.P404R	TNN_uc010pmx.1_Missense_Mutation_p.P404R	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	404	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)														---	---	---	---	capture		Missense_Mutation	SNP	175053048	175053048	16864	1	C	G	G	22	22	TNN	G	3	3
ASTN1	460	broad.mit.edu	37	1	177001635	177001635	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177001635G>T	uc001glc.2	-	3	1034	c.822C>A	c.(820-822)TCC>TCA	p.S274S	ASTN1_uc001glb.1_Silent_p.S274S|ASTN1_uc001gld.1_Silent_p.S274S|ASTN1_uc009wwx.1_Silent_p.S274S|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	274					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---	capture		Silent	SNP	177001635	177001635	1083	1	G	T	T	43	43	ASTN1	T	2	2
LAMC1	3915	broad.mit.edu	37	1	182993066	182993066	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182993066C>A	uc001gpy.3	+	1	472	c.215C>A	c.(214-216)CCG>CAG	p.P72Q	LAMC1_uc001gpx.2_Missense_Mutation_p.P72Q	NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	72	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)											OREG0014040	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	182993066	182993066	8937	1	C	A	A	23	23	LAMC1	A	1	1
HMCN1	83872	broad.mit.edu	37	1	186083136	186083136	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186083136C>A	uc001grq.1	+	73	11386	c.11157C>A	c.(11155-11157)CCC>CCA	p.P3719P		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3719	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---	capture		Silent	SNP	186083136	186083136	7511	1	C	A	A	22	22	HMCN1	A	2	2
HMCN1	83872	broad.mit.edu	37	1	186147831	186147831	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186147831C>A	uc001grq.1	+	104	16456	c.16227C>A	c.(16225-16227)TCC>TCA	p.S5409S	HMCN1_uc001grs.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5409					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---	capture		Silent	SNP	186147831	186147831	7511	1	C	A	A	21	21	HMCN1	A	2	2
HMCN1	83872	broad.mit.edu	37	1	186157115	186157115	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186157115C>A	uc001grq.1	+	106	16744	c.16515C>A	c.(16513-16515)CCC>CCA	p.P5505P	HMCN1_uc001grs.1_Silent_p.P957P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5505					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---	capture		Silent	SNP	186157115	186157115	7511	1	C	A	A	21	21	HMCN1	A	2	2
CFHR4	10877	broad.mit.edu	37	1	196871656	196871656	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196871656G>T	uc001gto.2	+	2	236	c.167G>T	c.(166-168)TGT>TTT	p.C56F	CFHR4_uc009wyy.2_Missense_Mutation_p.C55F|CFHR4_uc001gtp.2_Missense_Mutation_p.C56F	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	56	Sushi 1.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	196871656	196871656	3420	1	G	T	T	48	48	CFHR4	T	2	2
PIK3C2B	5287	broad.mit.edu	37	1	204433648	204433648	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204433648C>A	uc001haw.2	-	5	1598	c.1119G>T	c.(1117-1119)GGG>GGT	p.G373G	PIK3C2B_uc010pqv.1_Silent_p.G373G|PIK3C2B_uc001hax.1_Silent_p.G373G|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	373					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)															---	---	---	---	capture		Silent	SNP	204433648	204433648	12334	1	C	A	A	22	22	PIK3C2B	A	2	2
PIGR	5284	broad.mit.edu	37	1	207112724	207112724	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207112724G>T	uc001hez.2	-	3	312	c.128C>A	c.(127-129)CCA>CAA	p.P43Q	PIGR_uc009xbz.2_Missense_Mutation_p.P43Q	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	43	Ig-like V-type 1.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	207112724	207112724	12321	1	G	T	T	47	47	PIGR	T	2	2
CR2	1380	broad.mit.edu	37	1	207643415	207643415	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207643415C>A	uc001hfw.2	+	6	1287	c.1193C>A	c.(1192-1194)ACA>AAA	p.T398K	CR2_uc001hfv.2_Missense_Mutation_p.T398K|CR2_uc009xch.2_Missense_Mutation_p.T398K|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	398	Sushi 6.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	207643415	207643415	3981	1	C	A	A	17	17	CR2	A	2	2
TATDN3	128387	broad.mit.edu	37	1	212988413	212988413	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212988413G>T	uc001hjo.2	+	10	834	c.740G>T	c.(739-741)GGG>GTG	p.G247V	TATDN3_uc010ptj.1_3'UTR|TATDN3_uc010ptk.1_Missense_Mutation_p.G254V|TATDN3_uc001hjp.2_Missense_Mutation_p.G246V|TATDN3_uc010ptl.1_Missense_Mutation_p.G226V|TATDN3_uc010ptm.1_Missense_Mutation_p.G194V	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3 isoform 1	247						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)														---	---	---	---	capture		Missense_Mutation	SNP	212988413	212988413	16115	1	G	T	T	43	43	TATDN3	T	2	2
KIAA1804	84451	broad.mit.edu	37	1	233515375	233515375	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233515375G>T	uc001hvt.3	+	9	2884	c.2623G>T	c.(2623-2625)GGG>TGG	p.G875W	KIAA1804_uc001hvu.3_Missense_Mutation_p.G321W	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	875					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)																---	---	---	---	capture		Missense_Mutation	SNP	233515375	233515375	8570	1	G	T	T	47	47	KIAA1804	T	2	2
LYST	1130	broad.mit.edu	37	1	235860479	235860479	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235860479C>A	uc001hxj.2	-	46	10643	c.10468G>T	c.(10468-10470)GGA>TGA	p.G3490*	LYST_uc001hxi.2_Nonsense_Mutation_p.G714*	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3490					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---	capture		Nonsense_Mutation	SNP	235860479	235860479	9505	1	C	A	A	23	23	LYST	A	5	1
RYR2	6262	broad.mit.edu	37	1	237666802	237666802	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237666802C>A	uc001hyl.1	+	22	2730	c.2610C>A	c.(2608-2610)AGC>AGA	p.S870R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	870	Cytoplasmic (By similarity).|1.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Missense_Mutation	SNP	237666802	237666802	14249	1	C	A	A	26	26	RYR2	A	2	2
RYR2	6262	broad.mit.edu	37	1	237670108	237670108	+	Silent	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237670108T>C	uc001hyl.1	+	23	2832	c.2712T>C	c.(2710-2712)TAT>TAC	p.Y904Y		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	904	Cytoplasmic (By similarity).|1.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Silent	SNP	237670108	237670108	14249	1	T	C	C	51	51	RYR2	C	4	4
RYR2	6262	broad.mit.edu	37	1	237813369	237813369	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237813369A>T	uc001hyl.1	+	50	7825	c.7705A>T	c.(7705-7707)ATA>TTA	p.I2569L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2569	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Missense_Mutation	SNP	237813369	237813369	14249	1	A	T	T	8	8	RYR2	T	4	4
OR2G3	81469	broad.mit.edu	37	1	247768907	247768907	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247768907G>T	uc010pyz.1	+	1	20	c.20G>T	c.(19-21)AGT>ATT	p.S7I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(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)															---	---	---	---	capture		Missense_Mutation	SNP	247768907	247768907	11405	1	G	T	T	36	36	OR2G3	T	2	2
TRIM58	25893	broad.mit.edu	37	1	248039414	248039414	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248039414G>T	uc001ido.2	+	6	1132	c.1084G>T	c.(1084-1086)GTC>TTC	p.V362F	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	362	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)															---	---	---	---	capture		Missense_Mutation	SNP	248039414	248039414	17077	1	G	T	T	44	44	TRIM58	T	2	2
GDI2	2665	broad.mit.edu	37	10	5836916	5836916	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5836916C>A	uc001iil.3	-	4	611	c.320G>T	c.(319-321)GGG>GTG	p.G107V	GDI2_uc001iim.3_Intron|GDI2_uc009xid.2_Missense_Mutation_p.G111V	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	107					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	5836916	5836916	6589	10	C	A	A	22	22	GDI2	A	2	2
CUBN	8029	broad.mit.edu	37	10	16870952	16870952	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16870952C>A	uc001ioo.2	-	66	10668	c.10616G>T	c.(10615-10617)TGG>TTG	p.W3539L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3539	CUB 27.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---	capture		Missense_Mutation	SNP	16870952	16870952	4211	10	C	A	A	21	21	CUBN	A	2	2
SVIL	6840	broad.mit.edu	37	10	29769686	29769686	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29769686G>T	uc001iut.1	-	29	5910	c.5157C>A	c.(5155-5157)CCC>CCA	p.P1719P	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.P633P|SVIL_uc001iuu.1_Silent_p.P1293P|SVIL_uc009xlc.2_Silent_p.P511P	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1719					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---	capture		Silent	SNP	29769686	29769686	15941	10	G	T	T	43	43	SVIL	T	2	2
LYZL2	119180	broad.mit.edu	37	10	30915143	30915143	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30915143C>A	uc001ivk.2	-	3	340	c.327G>T	c.(325-327)ACG>ACT	p.T109T		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	63					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)																---	---	---	---	capture		Silent	SNP	30915143	30915143	9509	10	C	A	A	23	23	LYZL2	A	1	1
ZEB1	6935	broad.mit.edu	37	10	31809717	31809717	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31809717T>A	uc001ivs.3	+	7	1517	c.1454T>A	c.(1453-1455)CTT>CAT	p.L485H	ZEB1_uc001ivr.3_Missense_Mutation_p.L267H|ZEB1_uc010qee.1_Missense_Mutation_p.L267H|ZEB1_uc010qef.1_Missense_Mutation_p.L267H|ZEB1_uc009xlj.1_Missense_Mutation_p.L411H|ZEB1_uc010qeg.1_Missense_Mutation_p.L344H|ZEB1_uc009xlk.1_Missense_Mutation_p.L267H|ZEB1_uc001ivt.3_Missense_Mutation_p.L267H|ZEB1_uc001ivu.3_Missense_Mutation_p.L486H|ZEB1_uc001ivv.3_Missense_Mutation_p.L465H|ZEB1_uc010qeh.1_Missense_Mutation_p.L418H|ZEB1_uc009xlo.1_Missense_Mutation_p.L468H|ZEB1_uc009xlp.2_Missense_Mutation_p.L469H	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	485					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)																---	---	---	---	capture		Missense_Mutation	SNP	31809717	31809717	18211	10	T	A	A	56	56	ZEB1	A	4	4
GDF10	2662	broad.mit.edu	37	10	48429216	48429216	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48429216G>C	uc001jfb.2	-	2	1126	c.670C>G	c.(670-672)CAG>GAG	p.Q224E	GDF10_uc009xnp.2_Missense_Mutation_p.Q223E|GDF10_uc009xnq.1_Missense_Mutation_p.Q224E	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	224					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	48429216	48429216	6579	10	G	C	C	47	47	GDF10	C	3	3
ANK3	288	broad.mit.edu	37	10	61835767	61835767	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61835767G>T	uc001jky.2	-	37	5064	c.4872C>A	c.(4870-4872)ACC>ACA	p.T1624T	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1624	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---	capture		Silent	SNP	61835767	61835767	625	10	G	T	T	35	35	ANK3	T	2	2
CCAR1	55749	broad.mit.edu	37	10	70525742	70525742	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70525742G>T	uc001joo.2	+	17	2323	c.2204G>T	c.(2203-2205)TGG>TTG	p.W735L	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.W540L|CCAR1_uc009xpx.1_Missense_Mutation_p.W709L|CCAR1_uc001jon.1_Missense_Mutation_p.W681L|CCAR1_uc010qiz.1_Missense_Mutation_p.W720L|CCAR1_uc010qja.1_Missense_Mutation_p.W720L|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	735	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	70525742	70525742	2850	10	G	T	T	47	47	CCAR1	T	2	2
ALDH18A1	5832	broad.mit.edu	37	10	97388143	97388143	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97388143C>A	uc001kkz.2	-	8	1157	c.915G>T	c.(913-915)ATG>ATT	p.M305I	ALDH18A1_uc001kky.2_Missense_Mutation_p.M303I|ALDH18A1_uc010qog.1_Missense_Mutation_p.M194I|ALDH18A1_uc010qoh.1_Missense_Mutation_p.M93I	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	305	Glutamate 5-kinase.			MGG -> NGC (in Ref. 1; CAA64224).	proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	97388143	97388143	492	10	C	A	A	21	21	ALDH18A1	A	2	2
HPS1	3257	broad.mit.edu	37	10	100177949	100177949	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:100177949C>A	uc010qpf.1	-	19	2169	c.1923G>T	c.(1921-1923)CTG>CTT	p.L641L	PYROXD2_uc001kpc.2_5'Flank|PYROXD2_uc001kpd.2_5'Flank|PYROXD2_uc010qpe.1_5'Flank|HPS1_uc001kpi.1_Silent_p.L642L|HPS1_uc001kpj.1_Missense_Mutation_p.G551W|HPS1_uc001kpk.1_Silent_p.L466L	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	641					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)										Hermansky-Pudlak_syndrome				---	---	---	---	capture		Silent	SNP	100177949	100177949	7631	10	C	A	A	21	21	HPS1	A	2	2
TCF7L2	6934	broad.mit.edu	37	10	114911628	114911628	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114911628G>T	uc001lae.3	+	10	1653	c.1146G>T	c.(1144-1146)CAG>CAT	p.Q382H	TCF7L2_uc001lac.3_Missense_Mutation_p.Q359H|TCF7L2_uc010qrk.1_Missense_Mutation_p.Q359H|TCF7L2_uc010qrl.1_Missense_Mutation_p.Q359H|TCF7L2_uc010qrm.1_Missense_Mutation_p.Q382H|TCF7L2_uc010qrn.1_Missense_Mutation_p.Q325H|TCF7L2_uc001lad.3_Missense_Mutation_p.Q355H|TCF7L2_uc001lag.3_Missense_Mutation_p.Q406H|TCF7L2_uc001laf.3_Missense_Mutation_p.Q359H|TCF7L2_uc010qro.1_Missense_Mutation_p.Q359H|TCF7L2_uc001lah.2_Missense_Mutation_p.Q364H|TCF7L2_uc010qrp.1_Missense_Mutation_p.Q359H|TCF7L2_uc010qrq.1_Missense_Mutation_p.Q355H|TCF7L2_uc010qrr.1_Missense_Mutation_p.Q297H|TCF7L2_uc010qrs.1_Missense_Mutation_p.Q253H|TCF7L2_uc010qrt.1_Missense_Mutation_p.Q253H|TCF7L2_uc010qru.1_Missense_Mutation_p.Q281H|TCF7L2_uc010qrv.1_Missense_Mutation_p.Q199H|TCF7L2_uc010qrw.1_Missense_Mutation_p.Q86H|TCF7L2_uc010qrx.1_Missense_Mutation_p.Q239H	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	382	Mediates interaction with MAD2L2.|HMG box.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)														---	---	---	---	capture		Missense_Mutation	SNP	114911628	114911628	16224	10	G	T	T	33	33	TCF7L2	T	2	2
CLRN3	119467	broad.mit.edu	37	10	129676511	129676511	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129676511C>A	uc001lka.1	-	3	746	c.583G>T	c.(583-585)GTA>TTA	p.V195L	CLRN3_uc001ljz.1_Missense_Mutation_p.V127L	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	195	Helical; (Potential).					integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)																---	---	---	---	capture		Missense_Mutation	SNP	129676511	129676511	3697	10	C	A	A	17	17	CLRN3	A	2	2
TMEM80	283232	broad.mit.edu	37	11	700181	700181	+	Nonsense_Mutation	SNP	G	T	T	rs143901821	byFrequency	TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:700181G>T	uc001lqr.2	+	3	291	c.154G>T	c.(154-156)GGA>TGA	p.G52*	TMEM80_uc001lqs.2_Nonsense_Mutation_p.G44*|TMEM80_uc010qwi.1_Nonsense_Mutation_p.G52*	NM_001042463	NP_001035928	Q96HE8	TMM80_HUMAN	transmembrane protein 80 isoform 2	52	Helical; (Potential).					integral to membrane					0		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---	capture		Nonsense_Mutation	SNP	700181	700181	16743	11	G	T	T	39	39	TMEM80	T	5	1
MUC6	4588	broad.mit.edu	37	11	1016592	1016592	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1016592C>A	uc001lsw.2	-	31	6260	c.6209G>T	c.(6208-6210)GGG>GTG	p.G2070V		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2070	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---	capture		Missense_Mutation	SNP	1016592	1016592	10374	11	C	A	A	22	22	MUC6	A	2	2
KRTAP5-3	387266	broad.mit.edu	37	11	1629296	1629296	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1629296G>A	uc001ltw.1	-	1	398	c.320C>T	c.(319-321)TCC>TTC	p.S107F		NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	107	11 X 4 AA repeats of C-C-X-P.					keratin filament				ovary(2)	2		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)														---	---	---	---	capture		Missense_Mutation	SNP	1629296	1629296	8884	11	G	A	A	41	41	KRTAP5-3	A	2	2
OR56B4	196335	broad.mit.edu	37	11	6129132	6129132	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6129132C>A	uc010qzx.1	+	1	124	c.124C>A	c.(124-126)CTC>ATC	p.L42I		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	42	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6129132	6129132	11548	11	C	A	A	24	24	OR56B4	A	2	2
OR2AG2	338755	broad.mit.edu	37	11	6789336	6789336	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6789336G>C	uc001meq.1	-	1	853	c.853C>G	c.(853-855)CTG>GTG	p.L285V		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---	capture		Missense_Mutation	SNP	6789336	6789336	11391	11	G	C	C	35	35	OR2AG2	C	3	3
NLRP10	338322	broad.mit.edu	37	11	7982755	7982755	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7982755G>T	uc001mfv.1	-	2	421	c.404C>A	c.(403-405)CCA>CAA	p.P135Q		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	135							ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	7982755	7982755	10875	11	G	T	T	47	47	NLRP10	T	2	2
STK33	65975	broad.mit.edu	37	11	8414154	8414154	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8414154C>A	uc001mgi.1	-	12	2367	c.1448G>T	c.(1447-1449)GGA>GTA	p.G483V	STK33_uc001mgj.1_Missense_Mutation_p.G483V|STK33_uc001mgk.1_Missense_Mutation_p.G483V|STK33_uc010rbn.1_Missense_Mutation_p.G442V|STK33_uc001mgl.3_Missense_Mutation_p.G296V	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	483						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)														---	---	---	---	capture		Missense_Mutation	SNP	8414154	8414154	15820	11	C	A	A	30	30	STK33	A	2	2
ASCL3	56676	broad.mit.edu	37	11	8959439	8959439	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8959439G>T	uc001mhd.1	-	2	330	c.270C>A	c.(268-270)TAC>TAA	p.Y90*		NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	ASCL3	89					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding				0				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)														---	---	---	---	capture		Nonsense_Mutation	SNP	8959439	8959439	1054	11	G	T	T	40	40	ASCL3	T	5	1
ABCC8	6833	broad.mit.edu	37	11	17426109	17426109	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17426109G>T	uc001mnc.2	-	28	3633	c.3507C>A	c.(3505-3507)CCC>CCA	p.P1169P		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1169	Helical; Name=15; (By similarity).|ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---	capture		Silent	SNP	17426109	17426109	59	11	G	T	T	43	43	ABCC8	T	2	2
MRGPRX3	117195	broad.mit.edu	37	11	18158831	18158831	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18158831C>A	uc001mnu.2	+	3	443	c.82C>A	c.(82-84)CTG>ATG	p.L28M		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	28	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	18158831	18158831	10161	11	C	A	A	24	24	MRGPRX3	A	2	2
MRGPRX1	259249	broad.mit.edu	37	11	18956275	18956275	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18956275C>A	uc001mpg.2	-	1	275	c.57G>T	c.(55-57)GAG>GAT	p.E19D		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	19	Extracellular (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	18956275	18956275	10159	11	C	A	A	24	24	MRGPRX1	A	2	2
E2F8	79733	broad.mit.edu	37	11	19247288	19247288	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19247288G>T	uc001mpm.2	-	11	2539	c.2017C>A	c.(2017-2019)CCA>ACA	p.P673T	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.P673T	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	673					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	19247288	19247288	5059	11	G	T	T	43	43	E2F8	T	2	2
RAG1	5896	broad.mit.edu	37	11	36597502	36597502	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36597502G>T	uc001mwu.3	+	2	2772	c.2648G>T	c.(2647-2649)AGG>ATG	p.R883M	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	883					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)												Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---	capture		Missense_Mutation	SNP	36597502	36597502	13463	11	G	T	T	35	35	RAG1	T	2	2
RAG2	5897	broad.mit.edu	37	11	36615223	36615223	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36615223G>T	uc001mwv.3	-	2	684	c.496C>A	c.(496-498)CAC>AAC	p.H166N	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	166					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)												Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---	capture		Missense_Mutation	SNP	36615223	36615223	13465	11	G	T	T	47	47	RAG2	T	2	2
TTC17	55761	broad.mit.edu	37	11	43515348	43515348	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43515348G>T	uc001mxi.2	+	24	3334	c.3320G>T	c.(3319-3321)TGG>TTG	p.W1107L	TTC17_uc010rfj.1_Missense_Mutation_p.W1107L|TTC17_uc001mxl.2_Missense_Mutation_p.W163L|TTC17_uc001mxm.2_Missense_Mutation_p.W88L	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1107	TPR 6.						binding			ovary(5)	5																		---	---	---	---	capture		Missense_Mutation	SNP	43515348	43515348	17238	11	G	T	T	47	47	TTC17	T	2	2
DDB2	1643	broad.mit.edu	37	11	47259530	47259530	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47259530C>A	uc001neb.2	+	8	1361	c.1166C>A	c.(1165-1167)CCA>CAA	p.P389Q	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.P325Q|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.P200Q|DDB2_uc001nef.2_Missense_Mutation_p.P186Q|DDB2_uc001neg.2_Missense_Mutation_p.P248Q|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	389	WD 5.				nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3								Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---	capture		Missense_Mutation	SNP	47259530	47259530	4495	11	C	A	A	21	21	DDB2	A	2	2
OR5AS1	219447	broad.mit.edu	37	11	55798388	55798388	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55798388G>C	uc010riw.1	+	1	494	c.494G>C	c.(493-495)AGG>ACG	p.R165T		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)																	---	---	---	---	capture		Missense_Mutation	SNP	55798388	55798388	11556	11	G	C	C	35	35	OR5AS1	C	3	3
OR8I2	120586	broad.mit.edu	37	11	55861505	55861505	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55861505C>A	uc010rix.1	+	1	722	c.722C>A	c.(721-723)GCA>GAA	p.A241E		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)																	---	---	---	---	capture		Missense_Mutation	SNP	55861505	55861505	11651	11	C	A	A	25	25	OR8I2	A	2	2
OR10V1	390201	broad.mit.edu	37	11	59481101	59481101	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59481101T>C	uc001nof.1	-	1	218	c.218A>G	c.(217-219)TAT>TGT	p.Y73C		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	59481101	59481101	11326	11	T	C	C	49	49	OR10V1	C	4	4
MS4A7	58475	broad.mit.edu	37	11	60160167	60160167	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60160167G>T	uc001npe.2	+	6	701	c.556G>T	c.(556-558)GTG>TTG	p.V186L	MS4A7_uc001npf.2_Missense_Mutation_p.V186L|MS4A7_uc001npg.2_Missense_Mutation_p.V141L|MS4A7_uc001nph.2_Missense_Mutation_p.V141L|MS4A14_uc001npi.2_Intron	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	186	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	60160167	60160167	10259	11	G	T	T	36	36	MS4A7	T	2	2
DDB1	1642	broad.mit.edu	37	11	61083759	61083759	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61083759G>T	uc001nrc.3	-	12	1634	c.1408C>A	c.(1408-1410)CAG>AAG	p.Q470K	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.Q470K|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Missense_Mutation_p.Q470K	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	470	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4													NER					---	---	---	---	capture		Missense_Mutation	SNP	61083759	61083759	4494	11	G	T	T	47	47	DDB1	T	2	2
BEST1	7439	broad.mit.edu	37	11	61724379	61724379	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61724379G>T	uc001nss.2	+	5	1125	c.545G>T	c.(544-546)TGG>TTG	p.W182L	BEST1_uc010rlp.1_Missense_Mutation_p.W122L|BEST1_uc001nsq.2_Missense_Mutation_p.W76L|BEST1_uc010rlq.1_Missense_Mutation_p.W122L|BEST1_uc010rlr.1_Missense_Mutation_p.W182L|BEST1_uc010rls.1_Intron|BEST1_uc001nsr.2_Missense_Mutation_p.W122L|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.W122L|BEST1_uc001nst.2_Missense_Mutation_p.W122L|BEST1_uc010rlu.1_Missense_Mutation_p.W76L|BEST1_uc010rlv.1_Missense_Mutation_p.W76L	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	182	Helical; (Potential).				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	61724379	61724379	1427	11	G	T	T	47	47	BEST1	T	2	2
KDM2A	22992	broad.mit.edu	37	11	66947553	66947553	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66947553G>T	uc001ojw.2	+	3	910	c.46G>T	c.(46-48)GGT>TGT	p.G16C	KDM2A_uc001ojx.2_RNA	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	66947553	66947553	8430	11	G	T	T	47	47	KDM2A	T	2	2
KDM2A	22992	broad.mit.edu	37	11	66999388	66999388	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66999388C>A	uc001ojw.2	+	12	2300	c.1436C>A	c.(1435-1437)CCC>CAC	p.P479H	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.P173H	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	66999388	66999388	8430	11	C	A	A	22	22	KDM2A	A	2	2
YAP1	10413	broad.mit.edu	37	11	102056767	102056767	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102056767G>T	uc001pgt.2	+	4	1077	c.707G>T	c.(706-708)TGG>TTG	p.W236L	YAP1_uc001pgs.2_Intron|YAP1_uc001pgu.2_Missense_Mutation_p.W236L|YAP1_uc001pgv.2_Intron|YAP1_uc010ruo.1_Missense_Mutation_p.W58L|YAP1_uc001pgw.2_Missense_Mutation_p.W58L|YAP1_uc010rup.1_5'UTR	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Yes-associated protein 1, 65kDa isoform 1	236	WW 2.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)														---	---	---	---	capture		Missense_Mutation	SNP	102056767	102056767	18049	11	G	T	T	47	47	YAP1	T	2	2
NNMT	4837	broad.mit.edu	37	11	114168716	114168716	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114168716C>A	uc001por.1	+	4	462	c.198C>A	c.(196-198)CCC>CCA	p.P66P	NNMT_uc001pos.1_Silent_p.P66P	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	66					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)													---	---	---	---	capture		Silent	SNP	114168716	114168716	10912	11	C	A	A	21	21	NNMT	A	2	2
DSCAML1	57453	broad.mit.edu	37	11	117307860	117307860	+	Silent	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117307860G>A	uc001prh.1	-	26	4880	c.4878C>T	c.(4876-4878)TTC>TTT	p.F1626F		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1566	Extracellular (Potential).|Fibronectin type-III 6.				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)														---	---	---	---	capture		Silent	SNP	117307860	117307860	4953	11	G	A	A	37	37	DSCAML1	A	1	1
MLL	4297	broad.mit.edu	37	11	118344416	118344416	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118344416G>T	uc001pta.2	+	3	2565	c.2542G>T	c.(2542-2544)GGG>TGG	p.G848W	MLL_uc001ptb.2_Missense_Mutation_p.G848W|MLL_uc001psz.1_Missense_Mutation_p.G881W|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	848					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)				T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								---	---	---	---	capture		Missense_Mutation	SNP	118344416	118344416	10010	11	G	T	T	35	35	MLL	T	2	2
TMEM25	84866	broad.mit.edu	37	11	118404587	118404587	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118404587C>A	uc010rye.1	+	6	995	c.821C>A	c.(820-822)CCA>CAA	p.P274Q	TMEM25_uc001ptk.3_Missense_Mutation_p.P274Q|TMEM25_uc001pth.2_Missense_Mutation_p.P230Q|TMEM25_uc009zad.2_Missense_Mutation_p.P230Q|TMEM25_uc001pti.2_Missense_Mutation_p.P126Q|TMEM25_uc010ryf.1_Missense_Mutation_p.P177Q|TMEM25_uc001ptl.2_Missense_Mutation_p.P274Q|TMEM25_uc001ptm.2_Missense_Mutation_p.P230Q|TMEM25_uc001ptn.2_Missense_Mutation_p.P230Q	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	274	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---	capture		Missense_Mutation	SNP	118404587	118404587	16689	11	C	A	A	21	21	TMEM25	A	2	2
BCL9L	283149	broad.mit.edu	37	11	118769284	118769284	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118769284C>A	uc001pug.2	-	8	5305	c.4340G>T	c.(4339-4341)AGC>ATC	p.S1447I	BCL9L_uc009zal.2_Missense_Mutation_p.S1442I	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1447					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)														---	---	---	---	capture		Missense_Mutation	SNP	118769284	118769284	1403	11	C	A	A	28	28	BCL9L	A	2	2
UBASH3B	84959	broad.mit.edu	37	11	122653771	122653771	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122653771G>T	uc001pyi.3	+	5	972	c.612G>T	c.(610-612)GTG>GTT	p.V204V		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	204						cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)														---	---	---	---	capture		Silent	SNP	122653771	122653771	17397	11	G	T	T	47	47	UBASH3B	T	2	2
GRAMD1B	57476	broad.mit.edu	37	11	123489412	123489412	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123489412T>C	uc001pyx.2	+	18	2242	c.1913T>C	c.(1912-1914)CTG>CCG	p.L638P	GRAMD1B_uc001pyw.2_Missense_Mutation_p.L645P|GRAMD1B_uc010rzw.1_Missense_Mutation_p.L594P|GRAMD1B_uc010rzx.1_Missense_Mutation_p.L598P|GRAMD1B_uc001pyy.2_Missense_Mutation_p.L325P	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	638	Helical; (Potential).					integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)														---	---	---	---	capture		Missense_Mutation	SNP	123489412	123489412	7024	11	T	C	C	55	55	GRAMD1B	C	4	4
OR6M1	390261	broad.mit.edu	37	11	123676931	123676931	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123676931T>C	uc010rzz.1	-	1	127	c.127A>G	c.(127-129)ATC>GTC	p.I43V		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)														---	---	---	---	capture		Missense_Mutation	SNP	123676931	123676931	11615	11	T	C	C	51	51	OR6M1	C	4	4
OR8B4	283162	broad.mit.edu	37	11	124294684	124294684	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124294684G>T	uc010sak.1	-	1	84	c.84C>A	c.(82-84)TTC>TTA	p.F28L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)														---	---	---	---	capture		Missense_Mutation	SNP	124294684	124294684	11640	11	G	T	T	41	41	OR8B4	T	2	2
OR8B8	26493	broad.mit.edu	37	11	124310527	124310527	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310527C>T	uc010sal.1	-	1	455	c.455G>A	c.(454-456)GGG>GAG	p.G152E		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---	capture		Missense_Mutation	SNP	124310527	124310527	11641	11	C	T	T	22	22	OR8B8	T	2	2
KIRREL3	84623	broad.mit.edu	37	11	126333056	126333056	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126333056G>T	uc001qea.2	-	6	1099	c.738C>A	c.(736-738)ATC>ATA	p.I246I	KIRREL3_uc001qeb.2_Silent_p.I246I|KIRREL3_uc001qec.1_Silent_p.I246I	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	246	Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)														---	---	---	---	capture		Silent	SNP	126333056	126333056	8638	11	G	T	T	41	41	KIRREL3	T	2	2
ARHGAP32	9743	broad.mit.edu	37	11	128842914	128842914	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128842914C>A	uc009zcp.2	-	21	3445	c.3445G>T	c.(3445-3447)GGG>TGG	p.G1149W	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.G108W|ARHGAP32_uc001qez.2_Missense_Mutation_p.G800W	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1149					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	128842914	128842914	893	11	C	A	A	24	24	ARHGAP32	A	2	2
NTM	50863	broad.mit.edu	37	11	132177606	132177606	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:132177606G>T	uc001qgp.2	+	4	1214	c.550G>T	c.(550-552)GAA>TAA	p.E184*	NTM_uc001qgm.2_Nonsense_Mutation_p.E184*|NTM_uc010sch.1_Nonsense_Mutation_p.E175*|NTM_uc010sci.1_Nonsense_Mutation_p.E184*|NTM_uc010scj.1_Nonsense_Mutation_p.E143*|NTM_uc001qgo.2_Nonsense_Mutation_p.E184*|NTM_uc001qgq.2_Nonsense_Mutation_p.E184*|NTM_uc001qgr.2_5'UTR	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	184	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Nonsense_Mutation	SNP	132177606	132177606	11104	11	G	T	T	37	37	NTM	T	5	1
DCP1B	196513	broad.mit.edu	37	12	2062441	2062441	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2062441T>G	uc001qjx.1	-	7	745	c.665A>C	c.(664-666)GAA>GCA	p.E222A	DCP1B_uc010sdy.1_Missense_Mutation_p.E120A	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	222					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)															---	---	---	---	capture		Missense_Mutation	SNP	2062441	2062441	4470	12	T	G	G	62	62	DCP1B	G	4	4
NDUFA9	4704	broad.mit.edu	37	12	4791398	4791398	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4791398G>T	uc001qnc.2	+	9	838	c.828G>T	c.(826-828)CTG>CTT	p.L276L	NDUFA9_uc010ses.1_Silent_p.L57L	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	276					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)													---	---	---	---	capture		Silent	SNP	4791398	4791398	10671	12	G	T	T	47	47	NDUFA9	T	2	2
USP5	8078	broad.mit.edu	37	12	6974359	6974359	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6974359G>T	uc001qri.3	+	19	2489	c.2430G>T	c.(2428-2430)ATG>ATT	p.M810I	USP5_uc001qrh.3_Missense_Mutation_p.M787I|TPI1_uc001qrk.2_5'Flank|TPI1_uc010sfo.1_5'Flank	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	810					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	6974359	6974359	17645	12	G	T	T	47	47	USP5	T	2	2
PZP	5858	broad.mit.edu	37	12	9305770	9305770	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9305770G>T	uc001qvl.2	-	30	3973	c.3944C>A	c.(3943-3945)CCT>CAT	p.P1315H	PZP_uc009zgl.2_Missense_Mutation_p.P1101H	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	9305770	9305770	13327	12	G	T	T	35	35	PZP	T	2	2
PRB3	5544	broad.mit.edu	37	12	11420857	11420857	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11420857T>A	uc001qzs.2	-	3	364	c.326A>T	c.(325-327)CAG>CTG	p.Q109L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	109	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)															---	---	---	---	capture		Missense_Mutation	SNP	11420857	11420857	12886	12	T	A	A	55	55	PRB3	A	4	4
GUCY2C	2984	broad.mit.edu	37	12	14766078	14766078	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14766078G>T	uc001rcd.2	-	27	3332	c.3195C>A	c.(3193-3195)ACC>ACA	p.T1065T		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	1065	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6																		---	---	---	---	capture		Silent	SNP	14766078	14766078	7176	12	G	T	T	47	47	GUCY2C	T	2	2
PTPRO	5800	broad.mit.edu	37	12	15733040	15733040	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15733040C>A	uc001rcv.1	+	21	3162	c.2988C>A	c.(2986-2988)AAC>AAA	p.N996K	PTPRO_uc001rcw.1_Missense_Mutation_p.N968K|PTPRO_uc001rcx.1_Missense_Mutation_p.N185K|PTPRO_uc001rcy.1_Missense_Mutation_p.N185K|PTPRO_uc001rcz.1_Missense_Mutation_p.N157K|PTPRO_uc001rda.1_Missense_Mutation_p.N157K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	996	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)																---	---	---	---	capture		Missense_Mutation	SNP	15733040	15733040	13266	12	C	A	A	20	20	PTPRO	A	2	2
PPFIBP1	8496	broad.mit.edu	37	12	27835404	27835404	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27835404G>T	uc001ric.1	+	22	2526	c.2149G>T	c.(2149-2151)GGG>TGG	p.G717W	PPFIBP1_uc010sjr.1_Missense_Mutation_p.G548W|PPFIBP1_uc001rib.1_Missense_Mutation_p.G711W|PPFIBP1_uc001ria.2_Missense_Mutation_p.G686W|PPFIBP1_uc001rid.1_Missense_Mutation_p.G564W|PPFIBP1_uc001rif.1_Missense_Mutation_p.G224W	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	717					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)																	---	---	---	---	capture		Missense_Mutation	SNP	27835404	27835404	12743	12	G	T	T	47	47	PPFIBP1	T	2	2
C12orf35	55196	broad.mit.edu	37	12	32138230	32138230	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32138230G>T	uc001rks.2	+	4	4755	c.4341G>T	c.(4339-4341)AAG>AAT	p.K1447N	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1447										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)															---	---	---	---	capture		Missense_Mutation	SNP	32138230	32138230	1726	12	G	T	T	35	35	C12orf35	T	2	2
PLEKHA9	51054	broad.mit.edu	37	12	45568068	45568068	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45568068G>T	uc001rom.1	-	3	618	c.81C>A	c.(79-81)TCC>TCA	p.S27S	PLEKHA9_uc009zke.2_Silent_p.S27S	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)														---	---	---	---	capture		Silent	SNP	45568068	45568068	12489	12	G	T	T	47	47	PLEKHA9	T	2	2
ASB8	140461	broad.mit.edu	37	12	48547277	48547277	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48547277C>A	uc001rrh.2	-	2	172	c.3G>T	c.(1-3)ATG>ATT	p.M1I	ASB8_uc010slr.1_5'UTR	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box-containing 8	1					intracellular signal transduction	cytoplasm|nucleus				kidney(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	48547277	48547277	1047	12	C	A	A	29	29	ASB8	A	2	2
GRASP	160622	broad.mit.edu	37	12	52404685	52404685	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52404685A>T	uc001rzo.1	+	3	373	c.317A>T	c.(316-318)AAG>ATG	p.K106M	GRASP_uc001rzp.1_Translation_Start_Site	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides	106	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.0967)														---	---	---	---	capture		Missense_Mutation	SNP	52404685	52404685	7032	12	A	T	T	3	3	GRASP	T	4	4
MFSD5	84975	broad.mit.edu	37	12	53646670	53646670	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53646670G>T	uc001sci.1	+	2	242	c.51G>T	c.(49-51)CTG>CTT	p.L17L	MFSD5_uc001sch.1_Silent_p.L124L	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	17	Helical; (Potential).				transport	integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---	capture		Silent	SNP	53646670	53646670	9924	12	G	T	T	47	47	MFSD5	T	2	2
DGKA	1606	broad.mit.edu	37	12	56330863	56330863	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56330863G>A	uc001sij.2	+	3	391	c.127G>A	c.(127-129)GTC>ATC	p.V43I	DGKA_uc009zoc.1_Missense_Mutation_p.V43I|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Intron|DGKA_uc009zoe.1_Missense_Mutation_p.V43I|DGKA_uc001sik.2_Missense_Mutation_p.V43I|DGKA_uc001sil.2_Missense_Mutation_p.V43I|DGKA_uc001sim.2_Missense_Mutation_p.V43I|DGKA_uc001sin.2_Missense_Mutation_p.V43I|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	43					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)													---	---	---	---	capture		Missense_Mutation	SNP	56330863	56330863	4644	12	G	A	A	48	48	DGKA	A	2	2
SMARCC2	6601	broad.mit.edu	37	12	56558467	56558467	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56558467C>A	uc001skb.2	-	27	3294	c.3188G>T	c.(3187-3189)GGG>GTG	p.G1063V	SMARCC2_uc001skd.2_Missense_Mutation_p.G1094V|SMARCC2_uc001ska.2_Missense_Mutation_p.G1094V|SMARCC2_uc001skc.2_Missense_Mutation_p.G1093V|SMARCC2_uc010sqf.1_Missense_Mutation_p.G983V	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	1063	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)															---	---	---	---	capture		Missense_Mutation	SNP	56558467	56558467	15274	12	C	A	A	22	22	SMARCC2	A	2	2
STAT2	6773	broad.mit.edu	37	12	56743032	56743032	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56743032G>T	uc001slc.2	-	16	1433	c.1355C>A	c.(1354-1356)CCT>CAT	p.P452H	STAT2_uc001slb.2_Translation_Start_Site|STAT2_uc001sld.2_Missense_Mutation_p.P448H|STAT2_uc010sqn.1_Intron	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	452					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	56743032	56743032	15785	12	G	T	T	35	35	STAT2	T	2	2
ATP5B	506	broad.mit.edu	37	12	57039026	57039026	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57039026G>T	uc001slr.2	-	2	344	c.239C>A	c.(238-240)CCA>CAA	p.P80Q	SNORD59B_uc001sls.1_5'Flank|SNORD59A_uc001slt.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	80					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	57039026	57039026	1167	12	G	T	T	47	47	ATP5B	T	2	2
LRP1	4035	broad.mit.edu	37	12	57595586	57595586	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57595586G>T	uc001snd.2	+	67	10958	c.10492G>T	c.(10492-10494)GAG>TAG	p.E3498*		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3498	Extracellular (Potential).|LDL-receptor class A 25.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---	capture		Nonsense_Mutation	SNP	57595586	57595586	9324	12	G	T	T	37	37	LRP1	T	5	1
ACTR6	64431	broad.mit.edu	37	12	100617613	100617613	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100617613G>T	uc001thb.1	+	11	1167	c.1111G>T	c.(1111-1113)GAT>TAT	p.D371Y	ACTR6_uc001thc.1_Missense_Mutation_p.D263Y|ACTR6_uc001thd.1_Missense_Mutation_p.D351Y|ACTR6_uc009ztu.1_Intron|ACTR6_uc001the.1_Missense_Mutation_p.D289Y|ACTR6_uc001thf.1_Missense_Mutation_p.D269Y|uc001thg.1_5'Flank	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog	371						cytoplasm|cytoskeleton				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	100617613	100617613	217	12	G	T	T	45	45	ACTR6	T	2	2
TDG	6996	broad.mit.edu	37	12	104376576	104376576	+	Splice_Site	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104376576G>T	uc001tkg.2	+	5	702	c.479_splice	c.e5-1	p.W160_splice	TDG_uc009zuk.2_Splice_Site_p.W156_splice|TDG_uc010swi.1_Splice_Site_p.W17_splice|TDG_uc010swj.1_Splice_Site	NM_003211	NP_003202			thymine-DNA glycosylase						depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.?(1)		ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)									BER_DNA_glycosylases					---	---	---	---	capture		Splice_Site	SNP	104376576	104376576	16251	12	G	T	T	35	35	TDG	T	5	2
NAA25	80018	broad.mit.edu	37	12	112486193	112486193	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112486193C>A	uc001ttm.2	-	16	1803	c.1783G>T	c.(1783-1785)GAG>TAG	p.E595*	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.E567*|NAA25_uc009zwa.1_Nonsense_Mutation_p.E595*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	595						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	112486193	112486193	10516	12	C	A	A	32	32	NAA25	A	5	2
PTPN11	5781	broad.mit.edu	37	12	112926888	112926888	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112926888G>T	uc001ttx.2	+	13	1888	c.1508G>T	c.(1507-1509)GGG>GTG	p.G503V		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	507	Tyrosine-protein phosphatase.		G -> A (in JMML).|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.G503A(14)|p.G503V(8)|p.G503E(2)|p.G503L(1)|p.G503R(1)		haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392								Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	112926888	112926888	13235	12	G	T	T	43	43	PTPN11	T	2	2
NOS1	4842	broad.mit.edu	37	12	117768764	117768764	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117768764A>T	uc001twm.1	-	2	797	c.111T>A	c.(109-111)AGT>AGA	p.S37R		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	37	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)													---	---	---	---	capture		Missense_Mutation	SNP	117768764	117768764	10944	12	A	T	T	14	14	NOS1	T	4	4
BRCA2	675	broad.mit.edu	37	13	32900678	32900678	+	Nonsense_Mutation	SNP	G	T	T	rs80358780		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32900678G>T	uc001uub.1	+	7	786	c.559G>T	c.(559-561)GAG>TAG	p.E187*	BRCA2_uc001uua.1_Nonsense_Mutation_p.E64*	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	187					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	p.E187K(1)		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)			---	---	---	---	capture		Nonsense_Mutation	SNP	32900678	32900678	1530	13	G	T	T	45	45	BRCA2	T	5	2
LCP1	3936	broad.mit.edu	37	13	46730577	46730577	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46730577G>T	uc001vaz.3	-	5	613	c.487C>A	c.(487-489)CTT>ATT	p.L163I	LCP1_uc001vba.3_Missense_Mutation_p.L163I	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	163	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)				T	BCL6	NHL 								---	---	---	---	capture		Missense_Mutation	SNP	46730577	46730577	9015	13	G	T	T	35	35	LCP1	T	2	2
UTP14C	9724	broad.mit.edu	37	13	52603078	52603078	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52603078G>T	uc001vgb.2	+	2	673	c.138G>T	c.(136-138)CTG>CTT	p.L46L	UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	46					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)														---	---	---	---	capture		Silent	SNP	52603078	52603078	17661	13	G	T	T	47	47	UTP14C	T	2	2
MYCBP2	23077	broad.mit.edu	37	13	77699588	77699588	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77699588C>T	uc001vkf.2	-	55	7877	c.7786G>A	c.(7786-7788)GGG>AGG	p.G2596R	MYCBP2_uc010aev.2_Missense_Mutation_p.G2000R|MYCBP2_uc001vkg.1_Missense_Mutation_p.G59R	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---	capture		Missense_Mutation	SNP	77699588	77699588	10413	13	C	T	T	24	24	MYCBP2	T	2	2
GPC5	2262	broad.mit.edu	37	13	92346109	92346109	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:92346109C>A	uc010tif.1	+	3	1360	c.994C>A	c.(994-996)CTC>ATC	p.L332I		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	332						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)																---	---	---	---	capture		Missense_Mutation	SNP	92346109	92346109	6875	13	C	A	A	24	24	GPC5	A	2	2
NALCN	259232	broad.mit.edu	37	13	102029299	102029299	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:102029299G>T	uc001vox.1	-	5	673	c.484C>A	c.(484-486)CTG>ATG	p.L162M	NALCN_uc001voy.2_Translation_Start_Site|NALCN_uc001voz.2_Missense_Mutation_p.L162M|NALCN_uc001vpa.2_Missense_Mutation_p.L162M	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	162	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---	capture		Missense_Mutation	SNP	102029299	102029299	10544	13	G	T	T	36	36	NALCN	T	2	2
TMEM55B	90809	broad.mit.edu	37	14	20928949	20928949	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20928949G>T	uc001vxl.2	-	2	351	c.198C>A	c.(196-198)CCC>CCA	p.P66P	TMEM55B_uc001vxk.2_Silent_p.P73P	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 2	66	Pro-rich.					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)														---	---	---	---	capture		Silent	SNP	20928949	20928949	16721	14	G	T	T	43	43	TMEM55B	T	2	2
MYH7	4625	broad.mit.edu	37	14	23885365	23885365	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23885365G>T	uc001wjx.2	-	34	4907	c.4801C>A	c.(4801-4803)CTG>ATG	p.L1601M		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1601	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)														---	---	---	---	capture		Missense_Mutation	SNP	23885365	23885365	10434	14	G	T	T	35	35	MYH7	T	2	2
HECTD1	25831	broad.mit.edu	37	14	31585550	31585550	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31585550G>C	uc001wrc.1	-	30	5999	c.5510C>G	c.(5509-5511)ACC>AGC	p.T1837S	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.T1305S	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1837					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)														---	---	---	---	capture		Missense_Mutation	SNP	31585550	31585550	7322	14	G	C	C	44	44	HECTD1	C	3	3
SEC23A	10484	broad.mit.edu	37	14	39565184	39565184	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39565184C>A	uc001wup.1	-	2	362	c.139G>T	c.(139-141)GAG>TAG	p.E47*	SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Nonsense_Mutation_p.E47*	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A	47					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)														---	---	---	---	capture		Nonsense_Mutation	SNP	39565184	39565184	14477	14	C	A	A	32	32	SEC23A	A	5	2
ATP5S	27109	broad.mit.edu	37	14	50788258	50788258	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50788258C>A	uc001wxw.1	+	2	790	c.98C>A	c.(97-99)CCA>CAA	p.P33Q	ATP5S_uc001wxv.2_Missense_Mutation_p.P33Q|ATP5S_uc001wxx.1_Missense_Mutation_p.P33Q|ATP5S_uc010ant.1_Intron	NM_001003803	NP_001003803	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	33					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			ovary(1)|skin(1)	2	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)														---	---	---	---	capture		Missense_Mutation	SNP	50788258	50788258	1182	14	C	A	A	21	21	ATP5S	A	2	2
VASH1	22846	broad.mit.edu	37	14	77237546	77237546	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77237546G>T	uc001xst.2	+	3	1342	c.412G>T	c.(412-414)GGG>TGG	p.G138W	VASH1_uc001xss.2_Missense_Mutation_p.G138W	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	138					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)														---	---	---	---	capture		Missense_Mutation	SNP	77237546	77237546	17690	14	G	T	T	35	35	VASH1	T	2	2
ATXN3	4287	broad.mit.edu	37	14	92548666	92548666	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92548666C>A	uc001yac.3	-	8	822	c.753G>T	c.(751-753)AGG>AGT	p.R251S	ATXN3_uc010aug.2_Missense_Mutation_p.R236S|ATXN3_uc001yad.3_Missense_Mutation_p.R196S|ATXN3_uc010auh.2_Missense_Mutation_p.R185S|ATXN3_uc001yae.3_Missense_Mutation_p.R153S|ATXN3_uc010twl.1_RNA	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	251	UIM 2.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)														---	---	---	---	capture		Missense_Mutation	SNP	92548666	92548666	1233	14	C	A	A	22	22	ATXN3	A	2	2
DICER1	23405	broad.mit.edu	37	14	95560326	95560326	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95560326G>T	uc001ydw.2	-	25	5445	c.5263C>A	c.(5263-5265)CAC>AAC	p.H1755N	DICER1_uc010avh.1_Missense_Mutation_p.H653N|DICER1_uc001ydv.2_Missense_Mutation_p.H1745N|DICER1_uc001ydx.2_Missense_Mutation_p.H1755N	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1755	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)				Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				---	---	---	---	capture		Missense_Mutation	SNP	95560326	95560326	4700	14	G	T	T	47	47	DICER1	T	2	2
CLMN	79789	broad.mit.edu	37	14	95669862	95669862	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95669862C>A	uc001yef.2	-	9	1940	c.1824G>T	c.(1822-1824)AGG>AGT	p.R608S		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	608						integral to membrane	actin binding				0				Epithelial(152;0.193)														---	---	---	---	capture		Missense_Mutation	SNP	95669862	95669862	3680	14	C	A	A	30	30	CLMN	A	2	2
ATG2B	55102	broad.mit.edu	37	14	96771996	96771996	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96771996G>T	uc001yfi.2	-	31	5028	c.4663C>A	c.(4663-4665)CTT>ATT	p.L1555I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1555										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	96771996	96771996	1113	14	G	T	T	33	33	ATG2B	T	2	2
TUBGCP5	114791	broad.mit.edu	37	15	22853811	22853811	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22853811G>T	uc001yur.3	+	12	1579	c.1449G>T	c.(1447-1449)GGG>GGT	p.G483G	TUBGCP5_uc001yuq.2_Silent_p.G483G|TUBGCP5_uc010axz.1_Silent_p.G70G	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	483					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)														---	---	---	---	capture		Silent	SNP	22853811	22853811	17324	15	G	T	T	42	42	TUBGCP5	T	2	2
GABRG3	2567	broad.mit.edu	37	15	27222171	27222171	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:27222171G>A	uc001zbg.1	+	2	242	c.76G>A	c.(76-78)GAA>AAA	p.E26K	GABRG3_uc001zbf.2_Missense_Mutation_p.E26K	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	26	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)														---	---	---	---	capture		Missense_Mutation	SNP	27222171	27222171	6424	15	G	A	A	45	45	GABRG3	A	2	2
RYR3	6263	broad.mit.edu	37	15	34032134	34032134	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34032134G>T	uc001zhi.2	+	51	7828	c.7758G>T	c.(7756-7758)TTG>TTT	p.L2586F	RYR3_uc010bar.2_Missense_Mutation_p.L2586F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2586	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---	capture		Missense_Mutation	SNP	34032134	34032134	14250	15	G	T	T	47	47	RYR3	T	2	2
RPUSD2	27079	broad.mit.edu	37	15	40864032	40864032	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40864032G>T	uc001zmd.1	+	2	836	c.836G>T	c.(835-837)GGG>GTG	p.G279V		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	279					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)														---	---	---	---	capture		Missense_Mutation	SNP	40864032	40864032	14147	15	G	T	T	43	43	RPUSD2	T	2	2
TYRO3	7301	broad.mit.edu	37	15	41856430	41856430	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41856430G>A	uc001zof.1	+	5	853	c.629G>A	c.(628-630)GGC>GAC	p.G210D		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	210	Ig-like C2-type 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)														---	---	---	---	capture		Missense_Mutation	SNP	41856430	41856430	17371	15	G	A	A	42	42	TYRO3	A	2	2
VPS39	23339	broad.mit.edu	37	15	42476745	42476745	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42476745G>T	uc001zpd.2	-	9	872	c.721C>A	c.(721-723)CTG>ATG	p.L241M	VPS39_uc001zpc.2_Missense_Mutation_p.L230M	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	241	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)														---	---	---	---	capture		Missense_Mutation	SNP	42476745	42476745	17776	15	G	T	T	35	35	VPS39	T	2	2
ZFP106	64397	broad.mit.edu	37	15	42742724	42742724	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42742724G>T	uc001zpw.2	-	2	2012	c.1677C>A	c.(1675-1677)ACC>ACA	p.T559T	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Silent_p.T342T|ZFP106_uc001zpy.1_Silent_p.T582T	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	559						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)														---	---	---	---	capture		Silent	SNP	42742724	42742724	18225	15	G	T	T	47	47	ZFP106	T	2	2
TTBK2	146057	broad.mit.edu	37	15	43075689	43075689	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43075689G>T	uc001zqo.2	-	11	1564	c.1125C>A	c.(1123-1125)CCC>CCA	p.P375P	TTBK2_uc010bcy.2_Silent_p.P306P|TTBK2_uc001zqp.2_Silent_p.P375P|TTBK2_uc010bcz.1_Silent_p.P340P	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	375					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)														---	---	---	---	capture		Silent	SNP	43075689	43075689	17231	15	G	T	T	43	43	TTBK2	T	2	2
WDR76	79968	broad.mit.edu	37	15	44143306	44143306	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44143306G>T	uc001zti.1	+	9	1077	c.1054G>T	c.(1054-1056)GGA>TGA	p.G352*		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	352	WD 1.										0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)														---	---	---	---	capture		Nonsense_Mutation	SNP	44143306	44143306	17899	15	G	T	T	47	47	WDR76	T	5	2
DUOX2	50506	broad.mit.edu	37	15	45402882	45402882	+	Silent	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45402882G>A	uc010bea.2	-	8	1112	c.909C>T	c.(907-909)CCC>CCT	p.P303P	DUOX2_uc001zun.2_Silent_p.P303P	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	303	Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)														---	---	---	---	capture		Silent	SNP	45402882	45402882	4986	15	G	A	A	47	47	DUOX2	A	2	2
UNC13C	440279	broad.mit.edu	37	15	54306924	54306924	+	Silent	SNP	A	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54306924A>C	uc002ack.2	+	1	1824	c.1824A>C	c.(1822-1824)GGA>GGC	p.G608G		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	608					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---	capture		Silent	SNP	54306924	54306924	17544	15	A	C	C	11	11	UNC13C	C	4	4
TLN2	83660	broad.mit.edu	37	15	63014652	63014652	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63014652C>T	uc002alb.3	+	23	3092	c.3092C>T	c.(3091-3093)ACC>ATC	p.T1031I		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1031	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---	capture		Missense_Mutation	SNP	63014652	63014652	16478	15	C	T	T	18	18	TLN2	T	2	2
TLN2	83660	broad.mit.edu	37	15	63045984	63045984	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63045984G>T	uc002alb.3	+	33	4345	c.4345G>T	c.(4345-4347)GTT>TTT	p.V1449F	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1449					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---	capture		Missense_Mutation	SNP	63045984	63045984	16478	15	G	T	T	44	44	TLN2	T	2	2
PML	5371	broad.mit.edu	37	15	74326832	74326832	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74326832G>T	uc002awv.2	+	7	1811	c.1671G>T	c.(1669-1671)GTG>GTT	p.V557V	PML_uc002awm.2_Silent_p.V557V|PML_uc002awl.2_Missense_Mutation_p.W423L|PML_uc002awj.1_3'UTR|PML_uc002awk.2_Silent_p.V557V|PML_uc002awn.2_Missense_Mutation_p.W560L|PML_uc002awo.2_Silent_p.V509V|PML_uc002awp.2_Intron|PML_uc002awq.2_Missense_Mutation_p.W560L|PML_uc002awr.2_Silent_p.V557V|PML_uc002aws.2_Silent_p.V509V|PML_uc002awt.2_Missense_Mutation_p.W423L|PML_uc002awu.2_Silent_p.V509V|PML_uc010ule.1_Silent_p.V118V|PML_uc002awx.2_Missense_Mutation_p.W270L|PML_uc002awy.2_5'UTR	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	557	Interaction with SUMO1 and sumoylated proteins.			VVVI->AAAS: Abolishes SUMO1 binding.	cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5								T	RARA|PAX5	APL|ALL								---	---	---	---	capture		Silent	SNP	74326832	74326832	12561	15	G	T	T	47	47	PML	T	2	2
TMED3	23423	broad.mit.edu	37	15	79606180	79606180	+	Nonsense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79606180C>T	uc002beu.2	+	2	351	c.250C>T	c.(250-252)CAG>TAG	p.Q84*	TMED3_uc010unj.1_Nonsense_Mutation_p.Q84*|TMED3_uc002bev.2_RNA	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 domain containing 3	84	Lumenal (Potential).|GOLD.				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	79606180	79606180	16535	15	C	T	T	25	25	TMED3	T	5	2
ARNT2	9915	broad.mit.edu	37	15	80872871	80872871	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80872871G>T	uc002bfr.2	+	16	1899	c.1733G>T	c.(1732-1734)CGT>CTT	p.R578L	ARNT2_uc010unm.1_Missense_Mutation_p.R567L|ARNT2_uc002bfs.2_Missense_Mutation_p.R567L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	578					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	80872871	80872871	984	15	G	T	T	40	40	ARNT2	T	1	1
AKAP13	11214	broad.mit.edu	37	15	86278257	86278257	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86278257G>T	uc002blv.1	+	31	7487	c.7317G>T	c.(7315-7317)CTG>CTT	p.L2439L	AKAP13_uc002blu.1_Silent_p.L2443L|AKAP13_uc002blw.1_Silent_p.L904L|AKAP13_uc002blx.1_Silent_p.L684L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2439	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9																		---	---	---	---	capture		Silent	SNP	86278257	86278257	452	15	G	T	T	47	47	AKAP13	T	2	2
ISG20	3669	broad.mit.edu	37	15	89182735	89182735	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89182735G>C	uc002bmv.1	+	2	431	c.138G>C	c.(136-138)GAG>GAC	p.E46D	ISG20_uc002bmu.1_Intron|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease	46					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity				0	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)															---	---	---	---	capture		Missense_Mutation	SNP	89182735	89182735	8158	15	G	C	C	35	35	ISG20	C	3	3
LRRK1	79705	broad.mit.edu	37	15	101528851	101528851	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101528851C>A	uc002bwr.2	+	5	765	c.446C>A	c.(445-447)CCC>CAC	p.P149H	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.P149H	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	149					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---	capture		Missense_Mutation	SNP	101528851	101528851	9408	15	C	A	A	22	22	LRRK1	A	2	2
PKD1	5310	broad.mit.edu	37	16	2160565	2160565	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2160565G>A	uc002cos.1	-	15	4812	c.4603C>T	c.(4603-4605)CGC>TGC	p.R1535C	PKD1_uc002cot.1_Missense_Mutation_p.R1535C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1535	Extracellular (Potential).|PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	2160565	2160565	12387	16	G	A	A	39	39	PKD1	A	1	1
TXNDC11	51061	broad.mit.edu	37	16	11785437	11785437	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11785437G>T	uc010buu.1	-	9	1752	c.1690C>A	c.(1690-1692)CTT>ATT	p.L564I	TXNDC11_uc002dbg.1_Missense_Mutation_p.L537I	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	564					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	11785437	11785437	17348	16	G	T	T	35	35	TXNDC11	T	2	2
SMG1	23049	broad.mit.edu	37	16	18863750	18863750	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18863750C>A	uc002dfm.2	-	32	5166	c.4803G>T	c.(4801-4803)TTG>TTT	p.L1601F	SMG1_uc010bwb.2_Missense_Mutation_p.L1461F|SMG1_uc010bwa.2_Missense_Mutation_p.L332F|SMG1_uc002dfo.3_5'Flank	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1601	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	18863750	18863750	15293	16	C	A	A	21	21	SMG1	A	2	2
ACSM1	116285	broad.mit.edu	37	16	20638542	20638542	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20638542C>A	uc002dhm.1	-	10	1464	c.1396G>T	c.(1396-1398)GGG>TGG	p.G466W	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.G466W	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	466					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	20638542	20638542	183	16	C	A	A	22	22	ACSM1	A	2	2
SCNN1B	6338	broad.mit.edu	37	16	23383115	23383115	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23383115G>T	uc002dln.2	+	7	1239	c.1063G>T	c.(1063-1065)GGG>TGG	p.G355W		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	355	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---	capture		Missense_Mutation	SNP	23383115	23383115	14410	16	G	T	T	43	43	SCNN1B	T	2	2
ATXN2L	11273	broad.mit.edu	37	16	28841356	28841356	+	Silent	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28841356G>C	uc002drc.2	+	8	1179	c.1011G>C	c.(1009-1011)CGG>CGC	p.R337R	uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.R337R|ATXN2L_uc002drb.2_Silent_p.R337R|ATXN2L_uc002dqy.2_Silent_p.R337R|ATXN2L_uc002dra.2_Silent_p.R337R|ATXN2L_uc002dqz.2_Silent_p.R337R|ATXN2L_uc010vdb.1_Silent_p.R337R|ATXN2L_uc002dre.2_Silent_p.R337R|ATXN2L_uc002drf.2_5'UTR	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	337				R -> RG (in Ref. 6; AAB19201).		membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Silent	SNP	28841356	28841356	1232	16	G	C	C	43	43	ATXN2L	C	3	3
STX1B	112755	broad.mit.edu	37	16	31012876	31012876	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31012876G>T	uc010cad.2	-	2	191	c.79C>A	c.(79-81)CAC>AAC	p.H27N	STX1B_uc010vfd.1_Missense_Mutation_p.H27N	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	27	Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	31012876	31012876	15864	16	G	T	T	47	47	STX1B	T	2	2
DNAJA2	10294	broad.mit.edu	37	16	47005415	47005415	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47005415C>A	uc002eeo.2	-	3	350	c.208G>T	c.(208-210)GGA>TGA	p.G70*	DNAJA2_uc002eep.2_5'UTR	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	70	J.				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)																---	---	---	---	capture		Nonsense_Mutation	SNP	47005415	47005415	4795	16	C	A	A	23	23	DNAJA2	A	5	1
HERPUD1	9709	broad.mit.edu	37	16	56977185	56977185	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56977185C>A	uc002eke.1	+	8	1568	c.1159C>A	c.(1159-1161)CCA>ACA	p.P387T	HERPUD1_uc002ekf.1_Missense_Mutation_p.P386T|HERPUD1_uc002ekg.1_Missense_Mutation_p.P362T|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Missense_Mutation_p.P289T|HERPUD1_uc002ekh.1_Missense_Mutation_p.P205T	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	387	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0								T	ERG	prostate								---	---	---	---	capture		Missense_Mutation	SNP	56977185	56977185	7346	16	C	A	A	22	22	HERPUD1	A	2	2
ZFHX3	463	broad.mit.edu	37	16	72845852	72845852	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72845852G>T	uc002fck.2	-	6	4288	c.3615C>A	c.(3613-3615)CCC>CCA	p.P1205P	ZFHX3_uc002fcl.2_Silent_p.P291P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1205					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)																---	---	---	---	capture		Silent	SNP	72845852	72845852	18222	16	G	T	T	43	43	ZFHX3	T	2	2
CDH15	1013	broad.mit.edu	37	16	89254654	89254654	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89254654G>T	uc002fmt.2	+	7	1016	c.939G>T	c.(937-939)ACG>ACT	p.T313T		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	313	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)														---	---	---	---	capture		Silent	SNP	89254654	89254654	3229	16	G	T	T	39	39	CDH15	T	1	1
PRPF8	10594	broad.mit.edu	37	17	1577842	1577842	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1577842G>T	uc002fte.2	-	21	3307	c.3193C>A	c.(3193-3195)CCT>ACT	p.P1065T		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1065						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---	capture		Missense_Mutation	SNP	1577842	1577842	13018	17	G	T	T	43	43	PRPF8	T	2	2
ATP2A3	489	broad.mit.edu	37	17	3850763	3850763	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3850763C>A	uc002fxb.1	-	8	1168	c.1017G>T	c.(1015-1017)GTG>GTT	p.V339V	ATP2A3_uc002fwx.1_Silent_p.V339V|ATP2A3_uc002fwy.1_Silent_p.V339V|ATP2A3_uc002fwz.1_Silent_p.V339V|ATP2A3_uc002fxa.1_Silent_p.V339V|ATP2A3_uc002fxc.1_Silent_p.V339V|ATP2A3_uc002fxd.1_Silent_p.V339V	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	339	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)														---	---	---	---	capture		Silent	SNP	3850763	3850763	1157	17	C	A	A	21	21	ATP2A3	A	2	2
PLD2	5338	broad.mit.edu	37	17	4712418	4712418	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4712418C>T	uc002fzc.2	+	5	508	c.407C>T	c.(406-408)GCC>GTC	p.A136V	PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.A136V	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	136	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)													---	---	---	---	capture		Missense_Mutation	SNP	4712418	4712418	12472	17	C	T	T	26	26	PLD2	T	2	2
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	A	A	rs28934571		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577534C>A	uc002gim.2	-	7	941	c.747G>T	c.(745-747)AGG>AGT	p.R249S	TP53_uc002gig.1_Missense_Mutation_p.R249S|TP53_uc002gih.2_Missense_Mutation_p.R249S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117S|TP53_uc010cng.1_Missense_Mutation_p.R117S|TP53_uc002gii.1_Missense_Mutation_p.R117S|TP53_uc010cnh.1_Missense_Mutation_p.R249S|TP53_uc010cni.1_Missense_Mutation_p.R249S|TP53_uc002gij.2_Missense_Mutation_p.R249S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156S|TP53_uc002gio.2_Missense_Mutation_p.R117S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	249	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.P250fs*14(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---	capture		Missense_Mutation	SNP	7577534	7577534	16923	17	C	A	A	26	26	TP53	A	2	2
MYH8	4626	broad.mit.edu	37	17	10298626	10298626	+	Missense_Mutation	SNP	C	G	G	rs61730807	byFrequency	TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10298626C>G	uc002gmm.2	-	34	4881	c.4786G>C	c.(4786-4788)GTC>CTC	p.V1596L	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1596	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---	capture		Missense_Mutation	SNP	10298626	10298626	10436	17	C	G	G	20	20	MYH8	G	3	3
DNAH9	1770	broad.mit.edu	37	17	11514974	11514974	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11514974G>T	uc002gne.2	+	4	849	c.781G>T	c.(781-783)GAT>TAT	p.D261Y	DNAH9_uc002gnd.1_Missense_Mutation_p.D261Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	261	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---	capture		Missense_Mutation	SNP	11514974	11514974	4791	17	G	T	T	33	33	DNAH9	T	2	2
DNAH9	1770	broad.mit.edu	37	17	11515012	11515012	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11515012G>T	uc002gne.2	+	4	887	c.819G>T	c.(817-819)ACG>ACT	p.T273T	DNAH9_uc002gnd.1_Silent_p.T273T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	273	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---	capture		Silent	SNP	11515012	11515012	4791	17	G	T	T	39	39	DNAH9	T	1	1
FLCN	201163	broad.mit.edu	37	17	17122425	17122425	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17122425G>T	uc002gra.3	-	9	1474	c.970C>A	c.(970-972)CAG>AAG	p.Q324K	PLD6_uc010cpn.2_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	324					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3														Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				---	---	---	---	capture		Missense_Mutation	SNP	17122425	17122425	6159	17	G	T	T	47	47	FLCN	T	2	2
FLII	2314	broad.mit.edu	37	17	18149711	18149711	+	Silent	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18149711G>A	uc002gsr.1	-	24	3168	c.3117C>T	c.(3115-3117)ATC>ATT	p.I1039I	FLII_uc002gsq.1_Silent_p.I910I|FLII_uc010cpy.1_Silent_p.I1028I|FLII_uc010vxn.1_Silent_p.I1008I|FLII_uc010vxo.1_Silent_p.I984I	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	1039					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)																	---	---	---	---	capture		Silent	SNP	18149711	18149711	6163	17	G	A	A	45	45	FLII	A	2	2
FBXW10	10517	broad.mit.edu	37	17	18682490	18682490	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18682490T>C	uc002guk.2	+	14	3270	c.3038T>C	c.(3037-3039)GTT>GCT	p.V1013A	FBXW10_uc002guj.2_Missense_Mutation_p.V1012A|FBXW10_uc002gul.2_Missense_Mutation_p.V1022A|FBXW10_uc010cqh.1_Missense_Mutation_p.V960A|FAM18B_uc002gum.2_5'Flank	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	1013										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	18682490	18682490	6000	17	T	C	C	60	60	FBXW10	C	4	4
RAB34	83871	broad.mit.edu	37	17	27042864	27042864	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27042864C>A	uc002hce.2	-	4	892	c.268G>T	c.(268-270)GAG>TAG	p.E90*	RAB34_uc002hcg.2_Nonsense_Mutation_p.E90*|RAB34_uc002hcf.2_Nonsense_Mutation_p.E91*|RAB34_uc010was.1_Nonsense_Mutation_p.E147*|RAB34_uc010wat.1_Nonsense_Mutation_p.E147*|RAB34_uc002hch.2_Nonsense_Mutation_p.E90*|RAB34_uc010wau.1_Nonsense_Mutation_p.E68*|RAB34_uc010wav.1_Nonsense_Mutation_p.E148*	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	90					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)																	---	---	---	---	capture		Nonsense_Mutation	SNP	27042864	27042864	13383	17	C	A	A	31	31	RAB34	A	5	1
SLFN5	162394	broad.mit.edu	37	17	33592328	33592328	+	Silent	SNP	C	T	T	rs149671075	by1000genomes	TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33592328C>T	uc002hjf.3	+	5	2214	c.2097C>T	c.(2095-2097)CCC>CCT	p.P699P	SLFN5_uc010wcg.1_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	699					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)														---	---	---	---	capture		Silent	SNP	33592328	33592328	15235	17	C	T	T	24	24	SLFN5	T	2	2
TUBG2	27175	broad.mit.edu	37	17	40812318	40812318	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40812318C>A	uc010wgr.1	+	3	570	c.314C>A	c.(313-315)GCC>GAC	p.A105D	TUBG2_uc002iaq.2_5'UTR|TUBG2_uc002iar.2_5'UTR|TUBG2_uc002ias.2_5'UTR|TUBG2_uc002iap.2_5'UTR	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	105					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)														---	---	---	---	capture		Missense_Mutation	SNP	40812318	40812318	17320	17	C	A	A	26	26	TUBG2	A	2	2
G6PC	2538	broad.mit.edu	37	17	41053036	41053036	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41053036C>A	uc002icb.1	+	1	222	c.143C>A	c.(142-144)CCC>CAC	p.P48H	LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Missense_Mutation_p.P50H	NM_000151	NP_000142	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	48	Helical; (Potential).				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)										Glycogen_Storage_Disease_type_Ia				---	---	---	---	capture		Missense_Mutation	SNP	41053036	41053036	6394	17	C	A	A	22	22	G6PC	A	2	2
MPP3	4356	broad.mit.edu	37	17	41891595	41891595	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41891595C>A	uc002iei.3	-	15	1310	c.1144G>T	c.(1144-1146)GGA>TGA	p.G382*	MPP3_uc002ieh.2_Nonsense_Mutation_p.G407*|MPP3_uc002iej.2_RNA	NM_001932	NP_001923	Q13368	MPP3_HUMAN	palmitoylated membrane protein 3	382					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			large_intestine(1)|skin(1)	2		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)														---	---	---	---	capture		Nonsense_Mutation	SNP	41891595	41891595	10127	17	C	A	A	23	23	MPP3	A	5	1
C17orf57	124989	broad.mit.edu	37	17	45507265	45507265	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45507265A>G	uc002iln.2	+	24	2987	c.2576A>G	c.(2575-2577)GAC>GGC	p.D859G	C17orf57_uc002ilm.2_Missense_Mutation_p.D763G	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	859							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	45507265	45507265	1922	17	A	G	G	10	10	C17orf57	G	4	4
HOXB3	3213	broad.mit.edu	37	17	46629398	46629398	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46629398G>T	uc002inn.2	-	1	839	c.439C>A	c.(439-441)CCC>ACC	p.P147T	HOXB3_uc010wlm.1_Missense_Mutation_p.P74T|HOXB3_uc010dbf.2_Missense_Mutation_p.P147T|HOXB3_uc010dbg.2_Missense_Mutation_p.P147T|HOXB3_uc002ino.2_Missense_Mutation_p.P147T|HOXB3_uc010wlk.1_Missense_Mutation_p.P15T|HOXB3_uc010wll.1_Missense_Mutation_p.P74T	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	147					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	46629398	46629398	7594	17	G	T	T	43	43	HOXB3	T	2	2
HOXB3	3213	broad.mit.edu	37	17	46629716	46629716	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46629716T>C	uc002inn.2	-	1	521	c.121A>G	c.(121-123)ACG>GCG	p.T41A	HOXB3_uc010wlm.1_5'UTR|HOXB3_uc010dbf.2_Missense_Mutation_p.T41A|HOXB3_uc010dbg.2_Missense_Mutation_p.T41A|HOXB3_uc002ino.2_Missense_Mutation_p.T41A|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_5'UTR	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	41					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	46629716	46629716	7594	17	T	C	C	59	59	HOXB3	C	4	4
CA10	56934	broad.mit.edu	37	17	50008357	50008357	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:50008357C>A	uc002itw.3	-	3	1258	c.272G>T	c.(271-273)GGC>GTC	p.G91V	CA10_uc002itv.3_Missense_Mutation_p.G97V|CA10_uc002itx.3_Missense_Mutation_p.G91V|CA10_uc002ity.3_Missense_Mutation_p.G91V|CA10_uc002itz.2_Missense_Mutation_p.G91V	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)															---	---	---	---	capture		Missense_Mutation	SNP	50008357	50008357	2627	17	C	A	A	26	26	CA10	A	2	2
MED13	9969	broad.mit.edu	37	17	60042580	60042580	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60042580G>T	uc002izo.2	-	20	4708	c.4631C>A	c.(4630-4632)TCC>TAC	p.S1544Y		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1544	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	60042580	60042580	9819	17	G	T	T	41	41	MED13	T	2	2
SCN4A	6329	broad.mit.edu	37	17	62036742	62036742	+	Silent	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62036742G>A	uc002jds.1	-	12	1979	c.1902C>T	c.(1900-1902)CCC>CCT	p.P634P		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	634	II.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---	capture		Silent	SNP	62036742	62036742	14402	17	G	A	A	35	35	SCN4A	A	2	2
CACNG4	27092	broad.mit.edu	37	17	64961112	64961112	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64961112G>T	uc002jft.1	+	1	100	c.85G>T	c.(85-87)GGC>TGC	p.G29C		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	29	Helical; (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)															---	---	---	---	capture		Missense_Mutation	SNP	64961112	64961112	2675	17	G	T	T	39	39	CACNG4	T	1	1
ST6GALNAC1	55808	broad.mit.edu	37	17	74622817	74622817	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74622817G>T	uc002jsh.2	-	5	1401	c.1227C>A	c.(1225-1227)TCC>TCA	p.S409S	ST6GALNAC1_uc002jsi.2_Silent_p.S277S|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	409	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0																		---	---	---	---	capture		Silent	SNP	74622817	74622817	15741	17	G	T	T	35	35	ST6GALNAC1	T	2	2
EMILIN2	84034	broad.mit.edu	37	18	2891214	2891214	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2891214G>T	uc002kln.2	+	4	1248	c.1089G>T	c.(1087-1089)CTG>CTT	p.L363L		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	363					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)														---	---	---	---	capture		Silent	SNP	2891214	2891214	5286	18	G	T	T	47	47	EMILIN2	T	2	2
EMILIN2	84034	broad.mit.edu	37	18	2892094	2892094	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2892094C>A	uc002kln.2	+	4	2128	c.1969C>A	c.(1969-1971)CCG>ACG	p.P657T		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	657					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	2892094	2892094	5286	18	C	A	A	26	26	EMILIN2	A	2	2
DSG3	1830	broad.mit.edu	37	18	29045295	29045295	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29045295G>A	uc002kws.2	+	10	1395	c.1286G>A	c.(1285-1287)CGT>CAT	p.R429H		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	429	Cadherin 4.|Extracellular (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)															---	---	---	---	capture		Missense_Mutation	SNP	29045295	29045295	4962	18	G	A	A	40	40	DSG3	A	1	1
CNDP1	84735	broad.mit.edu	37	18	72245452	72245452	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72245452G>T	uc002llq.2	+	9	1268	c.1057G>T	c.(1057-1059)GAG>TAG	p.E353*	CNDP1_uc002lls.2_Nonsense_Mutation_p.E156*	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	353					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)														---	---	---	---	capture		Nonsense_Mutation	SNP	72245452	72245452	3731	18	G	T	T	37	37	CNDP1	T	5	1
AP3D1	8943	broad.mit.edu	37	19	2121290	2121290	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2121290C>A	uc002luz.2	-	13	1345	c.1122G>T	c.(1120-1122)ATG>ATT	p.M374I	AP3D1_uc002luy.2_Missense_Mutation_p.M283I|AP3D1_uc002lva.2_Missense_Mutation_p.M374I	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	374					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	2121290	2121290	756	19	C	A	A	21	21	AP3D1	A	2	2
PLIN4	729359	broad.mit.edu	37	19	4511796	4511796	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4511796G>T	uc002mar.1	-	3	2134	c.2134C>A	c.(2134-2136)CTA>ATA	p.L712I	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	712	19.|27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	4511796	4511796	12518	19	G	T	T	35	35	PLIN4	T	2	2
ARRDC5	645432	broad.mit.edu	37	19	4891523	4891523	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4891523G>T	uc002mbm.2	-	3	564	c.564C>A	c.(562-564)GTC>GTA	p.V188V		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	188					signal transduction						0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)														---	---	---	---	capture		Silent	SNP	4891523	4891523	1004	19	G	T	T	33	33	ARRDC5	T	2	2
MUC16	94025	broad.mit.edu	37	19	9048368	9048368	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9048368G>T	uc002mkp.2	-	5	33467	c.33263C>A	c.(33262-33264)CCA>CAA	p.P11088Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11090	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9048368	9048368	10367	19	G	T	T	47	47	MUC16	T	2	2
ELAVL3	1995	broad.mit.edu	37	19	11565633	11565633	+	Missense_Mutation	SNP	G	T	T	rs144639070		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11565633G>T	uc002mry.1	-	7	1192	c.812C>A	c.(811-813)GCG>GAG	p.A271E	ELAVL3_uc002mrx.1_Missense_Mutation_p.A264E	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	271					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	11565633	11565633	5242	19	G	T	T	38	38	ELAVL3	T	1	1
ZNF491	126069	broad.mit.edu	37	19	11917126	11917126	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11917126A>T	uc002mso.1	+	3	643	c.358A>T	c.(358-360)AGA>TGA	p.R120*		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	120	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	11917126	11917126	18536	19	A	T	T	3	3	ZNF491	T	5	4
ZNF878	729747	broad.mit.edu	37	19	12155706	12155706	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12155706G>T	uc002mta.1	-	5	651	c.651C>A	c.(649-651)CCC>CCA	p.P217P		NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	zinc finger protein 878	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	12155706	12155706	18799	19	G	T	T	35	35	ZNF878	T	2	2
ZNF20	7568	broad.mit.edu	37	19	12244153	12244153	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12244153T>C	uc002mtf.1	-	4	991	c.848A>G	c.(847-849)TAT>TGT	p.Y283C	ZNF20_uc002mte.1_Missense_Mutation_p.Y248C|ZNF20_uc002mtg.1_Missense_Mutation_p.Y283C	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	283	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	12244153	12244153	18352	19	T	C	C	49	49	ZNF20	C	4	4
EMR3	84658	broad.mit.edu	37	19	14765914	14765914	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14765914C>A	uc002mzi.3	-	6	605	c.457G>T	c.(457-459)GGG>TGG	p.G153W	EMR3_uc010dzp.2_Missense_Mutation_p.G101W|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	153	Extracellular (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	14765914	14765914	5299	19	C	A	A	24	24	EMR3	A	2	2
CASP14	23581	broad.mit.edu	37	19	15164418	15164418	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15164418C>A	uc010dzv.1	+	3	461	c.153C>A	c.(151-153)ACC>ACA	p.T51T	CASP14_uc002naf.2_Silent_p.T51T	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	51					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---	capture		Silent	SNP	15164418	15164418	2789	19	C	A	A	21	21	CASP14	A	2	2
CYP4F12	66002	broad.mit.edu	37	19	15794350	15794350	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15794350T>A	uc002nbl.2	+	7	756	c.695T>A	c.(694-696)GTA>GAA	p.V232E		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)																	---	---	---	---	capture		Missense_Mutation	SNP	15794350	15794350	4352	19	T	A	A	57	57	CYP4F12	A	4	4
OR10H2	26538	broad.mit.edu	37	19	15839195	15839195	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15839195G>T	uc002nbm.2	+	1	362	c.342G>T	c.(340-342)CTG>CTT	p.L114L		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	114	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)																	---	---	---	---	capture		Silent	SNP	15839195	15839195	11312	19	G	T	T	46	46	OR10H2	T	2	2
NCAN	1463	broad.mit.edu	37	19	19338255	19338255	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19338255C>A	uc002nlz.2	+	8	1925	c.1826C>A	c.(1825-1827)GCC>GAC	p.A609D	NCAN_uc010ecc.1_Missense_Mutation_p.A173D	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	609					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)															---	---	---	---	capture		Missense_Mutation	SNP	19338255	19338255	10603	19	C	A	A	26	26	NCAN	A	2	2
ZNF682	91120	broad.mit.edu	37	19	20133816	20133816	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20133816G>T	uc002noq.2	-	3	346	c.223C>A	c.(223-225)CCA>ACA	p.P75T	ZNF682_uc002noo.2_Missense_Mutation_p.P43T|ZNF682_uc002nop.2_Missense_Mutation_p.P43T|ZNF682_uc010eck.2_Intron	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	20133816	20133816	18684	19	G	T	T	43	43	ZNF682	T	2	2
ZNF430	80264	broad.mit.edu	37	19	21205610	21205610	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21205610G>T	uc002npj.2	+	2	129	c.19G>T	c.(19-21)GGA>TGA	p.G7*	ZNF430_uc002npk.2_Nonsense_Mutation_p.G7*	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	21205610	21205610	18497	19	G	T	T	47	47	ZNF430	T	5	2
ZNF254	9534	broad.mit.edu	37	19	24309473	24309473	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:24309473C>T	uc002nru.2	+	4	805	c.671C>T	c.(670-672)ACC>ATC	p.T224I	ZNF254_uc010xrk.1_Missense_Mutation_p.T139I	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	224	C2H2-type 1; degenerate.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)																---	---	---	---	capture		Missense_Mutation	SNP	24309473	24309473	18389	19	C	T	T	18	18	ZNF254	T	2	2
DPY19L3	147991	broad.mit.edu	37	19	32923703	32923703	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:32923703C>T	uc002ntg.2	+	4	495	c.319C>T	c.(319-321)CTC>TTC	p.L107F	DPY19L3_uc002nth.1_Missense_Mutation_p.L107F	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	107						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)																	---	---	---	---	capture		Missense_Mutation	SNP	32923703	32923703	4926	19	C	T	T	24	24	DPY19L3	T	2	2
SLC7A9	11136	broad.mit.edu	37	19	33355167	33355167	+	Missense_Mutation	SNP	C	A	A	rs121908480	byFrequency;by1000genomes	TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33355167C>A	uc002ntv.3	-	4	430	c.313G>T	c.(313-315)GGG>TGG	p.G105W	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.G105W|SLC7A9_uc002ntw.3_5'UTR	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	105	Helical; (Potential).		G -> R (in CSNU; type III; frequent mutation; severe loss of amino acid transport activity).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)													---	---	---	---	capture		Missense_Mutation	SNP	33355167	33355167	15202	19	C	A	A	23	23	SLC7A9	A	1	1
LGALS13	29124	broad.mit.edu	37	19	40097949	40097949	+	Silent	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40097949C>T	uc002omb.2	+	4	430	c.390C>T	c.(388-390)ATC>ATT	p.I130I		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	galectin-13	130	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			ovary(1)	1	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)															---	---	---	---	capture		Silent	SNP	40097949	40097949	9065	19	C	T	T	32	32	LGALS13	T	2	2
CD79A	973	broad.mit.edu	37	19	42383119	42383119	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42383119G>T	uc002orv.2	+	2	324	c.139G>T	c.(139-141)GGG>TGG	p.G47W	CD79A_uc002oru.2_Missense_Mutation_p.G47W	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	47	Ig-like C2-type.|Extracellular (Potential).			G -> V (in Ref. 10; BAD97091).	B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3								O|S		DLBCL								---	---	---	---	capture		Missense_Mutation	SNP	42383119	42383119	3164	19	G	T	T	43	43	CD79A	T	2	2
ATP1A3	478	broad.mit.edu	37	19	42485885	42485885	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42485885G>T	uc002osg.2	-	10	1445	c.1291C>A	c.(1291-1293)CCT>ACT	p.P431T	ATP1A3_uc010xwf.1_Missense_Mutation_p.P442T|ATP1A3_uc010xwg.1_Missense_Mutation_p.P401T|ATP1A3_uc010xwh.1_Missense_Mutation_p.P444T|ATP1A3_uc002osh.2_Missense_Mutation_p.P431T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	431	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	42485885	42485885	1149	19	G	T	T	43	43	ATP1A3	T	2	2
MEGF8	1954	broad.mit.edu	37	19	42866656	42866656	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42866656G>T	uc002otl.3	+	33	6399	c.5764G>T	c.(5764-5766)GGG>TGG	p.G1922W	MEGF8_uc002otm.3_Missense_Mutation_p.G1530W	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1989	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---	capture		Missense_Mutation	SNP	42866656	42866656	9852	19	G	T	T	35	35	MEGF8	T	2	2
TEX101	83639	broad.mit.edu	37	19	43920524	43920524	+	Splice_Site	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43920524G>T	uc010xwo.1	+	4	404	c.209_splice	c.e4-1	p.G70_splice	TEX101_uc002owk.2_Splice_Site_p.G88_splice	NM_001130011	NP_001123483			testis expressed 101 isoform 2							anchored to membrane|plasma membrane				ovary(1)	1		Prostate(69;0.0199)																---	---	---	---	capture		Splice_Site	SNP	43920524	43920524	16300	19	G	T	T	35	35	TEX101	T	5	2
ZNF284	342909	broad.mit.edu	37	19	44590805	44590805	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44590805G>T	uc002oyg.1	+	5	1390	c.1174G>T	c.(1174-1176)GTC>TTC	p.V392F	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	392	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)																---	---	---	---	capture		Missense_Mutation	SNP	44590805	44590805	18413	19	G	T	T	44	44	ZNF284	T	2	2
SAE1	10055	broad.mit.edu	37	19	47653559	47653559	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47653559C>A	uc002pgc.2	+	3	367	c.311C>A	c.(310-312)CCC>CAC	p.P104H	SAE1_uc002pgd.2_Missense_Mutation_p.P104H|SAE1_uc010ekx.2_Missense_Mutation_p.P104H|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_5'UTR|SAE1_uc002pge.2_Missense_Mutation_p.P40H	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	104					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)														---	---	---	---	capture		Missense_Mutation	SNP	47653559	47653559	14285	19	C	A	A	22	22	SAE1	A	2	2
BCAT2	587	broad.mit.edu	37	19	49302957	49302957	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49302957C>A	uc002pkr.2	-	6	707	c.670G>T	c.(670-672)GGG>TGG	p.G224W	BCAT2_uc002pkp.2_Missense_Mutation_p.G184W|BCAT2_uc002pkq.3_Missense_Mutation_p.G184W|BCAT2_uc002pks.2_Missense_Mutation_p.G184W|BCAT2_uc002pkt.2_Missense_Mutation_p.G132W|BCAT2_uc010emh.1_Missense_Mutation_p.G224W|BCAT2_uc010emi.1_Missense_Mutation_p.G132W|BCAT2_uc002pku.1_Missense_Mutation_p.G184W	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	224						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	49302957	49302957	1376	19	C	A	A	23	23	BCAT2	A	1	1
SYT3	84258	broad.mit.edu	37	19	51133130	51133130	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51133130C>A	uc002pst.2	-	3	1607	c.973G>T	c.(973-975)GAC>TAC	p.D325Y	SYT3_uc002psv.2_Missense_Mutation_p.D325Y|SYT3_uc010ycd.1_Missense_Mutation_p.D325Y	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	325	C2 1.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)														---	---	---	---	capture		Missense_Mutation	SNP	51133130	51133130	15996	19	C	A	A	30	30	SYT3	A	2	2
LILRB4	11006	broad.mit.edu	37	19	55179385	55179385	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55179385G>T	uc002qgp.2	+	12	1624	c.1262G>T	c.(1261-1263)AGA>ATA	p.R421I	LILRB4_uc002qgq.2_Missense_Mutation_p.R420I|LILRB4_uc002qgr.2_Missense_Mutation_p.R463I|LILRB4_uc010ert.2_Missense_Mutation_p.R462I|LILRB4_uc010eru.2_Missense_Mutation_p.R451I	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	421	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)														---	---	---	---	capture		Missense_Mutation	SNP	55179385	55179385	9119	19	G	T	T	33	33	LILRB4	T	2	2
ZSCAN5A	79149	broad.mit.edu	37	19	56733267	56733267	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56733267C>A	uc002qmq.2	-	5	1334	c.1168G>T	c.(1168-1170)GGG>TGG	p.G390W	ZSCAN5A_uc010ygi.1_Missense_Mutation_p.G273W|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.G390W|ZSCAN5A_uc002qms.1_Missense_Mutation_p.G389W	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	390	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	56733267	56733267	18842	19	C	A	A	21	21	ZSCAN5A	A	2	2
USP29	57663	broad.mit.edu	37	19	57642748	57642748	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57642748G>C	uc002qny.2	+	4	3061	c.2705G>C	c.(2704-2706)AGC>ACC	p.S902T		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	902					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	57642748	57642748	17623	19	G	C	C	34	34	USP29	C	3	3
GREB1	9687	broad.mit.edu	37	2	11735496	11735496	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11735496C>A	uc002rbk.1	+	12	2116	c.1816C>A	c.(1816-1818)CTC>ATC	p.L606I	GREB1_uc002rbo.1_Missense_Mutation_p.L240I	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	606						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)														---	---	---	---	capture		Missense_Mutation	SNP	11735496	11735496	7037	2	C	A	A	24	24	GREB1	A	2	2
ITSN2	50618	broad.mit.edu	37	2	24427275	24427275	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24427275G>T	uc002rfe.2	-	39	5033	c.4775C>A	c.(4774-4776)CCA>CAA	p.P1592Q	ITSN2_uc002rff.2_Missense_Mutation_p.P1565Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	1592	C2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	24427275	24427275	8231	2	G	T	T	47	47	ITSN2	T	2	2
YIPF4	84272	broad.mit.edu	37	2	32526505	32526505	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32526505G>C	uc002rok.2	+	5	805	c.538G>C	c.(538-540)GTA>CTA	p.V180L		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	180	Helical; (Potential).					endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	32526505	32526505	18063	2	G	C	C	48	48	YIPF4	C	3	3
TTC27	55622	broad.mit.edu	37	2	32855589	32855589	+	Splice_Site	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32855589G>T	uc002rom.2	+	2	320	c.89_splice	c.e2-1	p.E30_splice	TTC27_uc010ymx.1_Splice_Site	NM_017735	NP_060205			tetratricopeptide repeat domain 27								protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Splice_Site	SNP	32855589	32855589	17249	2	G	T	T	33	33	TTC27	T	5	2
LOC728819	728819	broad.mit.edu	37	2	43903033	43903033	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43903033G>T	uc010fav.1	-	1	429	c.429C>A	c.(427-429)CCC>CCA	p.P143P	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.1_Intron	NM_001101330	NP_001094800			C1GALT1-specific chaperone 1-like												0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---	capture		Silent	SNP	43903033	43903033	9257	2	G	T	T	47	47	LOC728819	T	2	2
C2orf61	285051	broad.mit.edu	37	2	47378423	47378423	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47378423G>C	uc002rvs.2	-	3	500	c.373C>G	c.(373-375)CCC>GCC	p.P125A	C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Missense_Mutation_p.P125A	NM_173649	NP_775920	Q8N801	CB061_HUMAN	hypothetical protein LOC285051 isoform 2	125								p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)															---	---	---	---	capture		Missense_Mutation	SNP	47378423	47378423	2268	2	G	C	C	43	43	C2orf61	C	3	3
MEIS1	4211	broad.mit.edu	37	2	66670085	66670085	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:66670085G>T	uc002sdu.2	+	6	992	c.535G>T	c.(535-537)GGG>TGG	p.G179W	MEIS1_uc002sdt.2_Missense_Mutation_p.G179W|MEIS1_uc002sdv.2_Missense_Mutation_p.G177W|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_Missense_Mutation_p.G114W|MEIS1_uc002sdw.1_Missense_Mutation_p.G35W	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Meis homeobox 1	179							sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	66670085	66670085	9856	2	G	T	T	35	35	MEIS1	T	2	2
WDR54	84058	broad.mit.edu	37	2	74650509	74650509	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74650509C>A	uc002slb.2	+	4	409	c.349C>A	c.(349-351)CCA>ACA	p.P117T		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	WD repeat domain 54	117	WD 1.										0																		---	---	---	---	capture		Missense_Mutation	SNP	74650509	74650509	17879	2	C	A	A	22	22	WDR54	A	2	2
LOXL3	84695	broad.mit.edu	37	2	74762792	74762792	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74762792C>A	uc002smp.1	-	8	1411	c.1339G>T	c.(1339-1341)GGG>TGG	p.G447W	LOXL3_uc002smo.1_Missense_Mutation_p.G86W|LOXL3_uc010ffm.1_Intron|LOXL3_uc002smq.1_Missense_Mutation_p.G302W|LOXL3_uc010ffn.1_Missense_Mutation_p.G302W	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	447	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	74762792	74762792	9274	2	C	A	A	21	21	LOXL3	A	2	2
LRRTM1	347730	broad.mit.edu	37	2	80529786	80529786	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80529786G>A	uc002sok.1	-	2	1429	c.1159C>T	c.(1159-1161)CCT>TCT	p.P387S	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	387	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---	capture		Missense_Mutation	SNP	80529786	80529786	9415	2	G	A	A	43	43	LRRTM1	A	2	2
EIF2AK3	9451	broad.mit.edu	37	2	88874860	88874860	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88874860G>T	uc002stc.3	-	13	2343	c.2141C>A	c.(2140-2142)CCT>CAT	p.P714H		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	714	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	88874860	88874860	5187	2	G	T	T	35	35	EIF2AK3	T	2	2
BUB1	699	broad.mit.edu	37	2	111398613	111398613	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:111398613G>T	uc002tgc.2	-	23	3065	c.2953C>A	c.(2953-2955)CAG>AAG	p.Q985K	BUB1_uc010yxh.1_Missense_Mutation_p.Q965K|BUB1_uc010fkb.2_Missense_Mutation_p.Q928K	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	985	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)														---	---	---	---	capture		Missense_Mutation	SNP	111398613	111398613	1604	2	G	T	T	47	47	BUB1	T	2	2
INHBB	3625	broad.mit.edu	37	2	121106938	121106938	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121106938T>G	uc002tmn.2	+	2	758	c.712T>G	c.(712-714)TTG>GTG	p.L238V		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	238					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)																---	---	---	---	capture		Missense_Mutation	SNP	121106938	121106938	8043	2	T	G	G	56	56	INHBB	G	4	4
GLI2	2736	broad.mit.edu	37	2	121742113	121742113	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121742113C>A	uc010flp.2	+	11	1780	c.1750C>A	c.(1750-1752)CAT>AAT	p.H584N	GLI2_uc002tmq.1_Missense_Mutation_p.H256N|GLI2_uc002tmr.1_Missense_Mutation_p.H239N|GLI2_uc002tmt.3_Missense_Mutation_p.H256N|GLI2_uc002tmu.3_Missense_Mutation_p.H239N|GLI2_uc002tmw.1_Missense_Mutation_p.H567N	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	584	C2H2-type 5.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)																---	---	---	---	capture		Missense_Mutation	SNP	121742113	121742113	6706	2	C	A	A	25	25	GLI2	A	2	2
GALNT13	114805	broad.mit.edu	37	2	155158018	155158018	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:155158018G>T	uc002tyr.3	+	9	1639	c.1072G>T	c.(1072-1074)GGT>TGT	p.G358C	GALNT13_uc002tyt.3_Missense_Mutation_p.G358C|GALNT13_uc010foc.1_Missense_Mutation_p.G177C|GALNT13_uc010fod.2_Missense_Mutation_p.G111C	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	358	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	155158018	155158018	6475	2	G	T	T	47	47	GALNT13	T	2	2
GPD2	2820	broad.mit.edu	37	2	157425354	157425354	+	Silent	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157425354C>T	uc002tzf.3	+	10	1543	c.1183C>T	c.(1183-1185)CTG>TTG	p.L395L	GPD2_uc010zch.1_Silent_p.L168L|GPD2_uc002tzd.3_Silent_p.L395L|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	395					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	157425354	157425354	6880	2	C	T	T	24	24	GPD2	T	2	2
XIRP2	129446	broad.mit.edu	37	2	168097247	168097247	+	Splice_Site	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168097247G>A	uc002udx.2	+	6	1060	c.1042_splice	c.e6+1	p.V348_splice	XIRP2_uc010fpn.2_Splice_Site_p.V381_splice|XIRP2_uc010fpo.2_Splice_Site_p.V348_splice|XIRP2_uc010fpp.2_Splice_Site_p.V348_splice|XIRP2_uc002udy.2_Splice_Site_p.V173_splice|XIRP2_uc010fpq.2_Splice_Site_p.V126_splice|XIRP2_uc010fpr.2_Splice_Site_p.V126_splice	NM_152381	NP_689594			xin actin-binding repeat containing 2 isoform 1						actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---	capture		Splice_Site	SNP	168097247	168097247	18011	2	G	A	A	44	44	XIRP2	A	5	2
LRP2	4036	broad.mit.edu	37	2	170030452	170030452	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170030452G>T	uc002ues.2	-	56	11204	c.10991C>A	c.(10990-10992)TCG>TAG	p.S3664*		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3664	LDL-receptor class A 29.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---	capture		Nonsense_Mutation	SNP	170030452	170030452	9329	2	G	T	T	37	37	LRP2	T	5	1
ANKAR	150709	broad.mit.edu	37	2	190585355	190585355	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190585355C>A	uc002uqw.1	+	11	2264	c.2264C>A	c.(2263-2265)CCA>CAA	p.P755Q	ANKAR_uc002uqu.2_Intron|ANKAR_uc002uqx.1_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	826	ARM 3.					integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)															---	---	---	---	capture		Missense_Mutation	SNP	190585355	190585355	626	2	C	A	A	21	21	ANKAR	A	2	2
ALS2	57679	broad.mit.edu	37	2	202619266	202619266	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202619266C>A	uc002uyo.2	-	6	1956	c.1600G>T	c.(1600-1602)GGG>TGG	p.G534W	ALS2_uc002uyp.3_Missense_Mutation_p.G534W|ALS2_uc002uyq.2_Missense_Mutation_p.G534W	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	534	RCC1 4.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	202619266	202619266	553	2	C	A	A	24	24	ALS2	A	2	2
ADAM23	8745	broad.mit.edu	37	2	207460815	207460815	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207460815G>T	uc002vbq.2	+	24	2511	c.2288G>T	c.(2287-2289)TGG>TTG	p.W763L	ADAM23_uc010ziv.1_Intron	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	763	EGF-like.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)														---	---	---	---	capture		Missense_Mutation	SNP	207460815	207460815	246	2	G	T	T	47	47	ADAM23	T	2	2
ABCA12	26154	broad.mit.edu	37	2	215884427	215884427	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215884427C>A	uc002vew.2	-	12	1601	c.1381G>T	c.(1381-1383)GGG>TGG	p.G461W	ABCA12_uc002vev.2_Missense_Mutation_p.G143W|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	461					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)														---	---	---	---	capture		Missense_Mutation	SNP	215884427	215884427	31	2	C	A	A	21	21	ABCA12	A	2	2
HJURP	55355	broad.mit.edu	37	2	234762542	234762542	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234762542G>C	uc002vvg.2	-	2	198	c.132C>G	c.(130-132)TTC>TTG	p.F44L	HJURP_uc010znd.1_Missense_Mutation_p.F37L|HJURP_uc010zne.1_Missense_Mutation_p.F37L	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	44					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)														---	---	---	---	capture		Missense_Mutation	SNP	234762542	234762542	7480	2	G	C	C	37	37	HJURP	C	3	3
FARP2	9855	broad.mit.edu	37	2	242373648	242373648	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242373648G>T	uc002wbi.1	+	10	1060	c.943G>T	c.(943-945)GAG>TAG	p.E315*	FARP2_uc010zoq.1_Nonsense_Mutation_p.E315*|FARP2_uc010zor.1_Nonsense_Mutation_p.E315*	NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	315	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)														---	---	---	---	capture		Nonsense_Mutation	SNP	242373648	242373648	5913	2	G	T	T	41	41	FARP2	T	5	2
SLC23A2	9962	broad.mit.edu	37	20	4880259	4880259	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4880259C>A	uc002wlg.1	-	6	799	c.424G>T	c.(424-426)GGG>TGG	p.G142W	SLC23A2_uc010zqr.1_Missense_Mutation_p.G141W|SLC23A2_uc002wlh.1_Missense_Mutation_p.G142W|SLC23A2_uc002wli.2_Missense_Mutation_p.G141W	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	142	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	4880259	4880259	14960	20	C	A	A	21	21	SLC23A2	A	2	2
RRBP1	6238	broad.mit.edu	37	20	17610501	17610501	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17610501C>A	uc002wpv.1	-	10	1771	c.1417G>T	c.(1417-1419)GAG>TAG	p.E473*	RRBP1_uc002wpu.2_Nonsense_Mutation_p.E247*|RRBP1_uc002wpw.1_Nonsense_Mutation_p.E473*|RRBP1_uc010gcl.1_Nonsense_Mutation_p.E247*|RRBP1_uc010gcm.1_Silent_p.P58P	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	906	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	17610501	17610501	14158	20	C	A	A	31	31	RRBP1	A	5	1
C20orf160	140706	broad.mit.edu	37	20	30605622	30605622	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30605622G>T	uc002wxf.2	+	3	231	c.218G>T	c.(217-219)TGG>TTG	p.W73L		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	73										central_nervous_system(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	30605622	30605622	2170	20	G	T	T	47	47	C20orf160	T	2	2
ASXL1	171023	broad.mit.edu	37	20	30956834	30956834	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30956834G>T	uc002wxs.2	+	3	586	c.160G>T	c.(160-162)GCA>TCA	p.A54S	ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_5'UTR	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	54					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								---	---	---	---	capture		Missense_Mutation	SNP	30956834	30956834	1085	20	G	T	T	38	38	ASXL1	T	1	1
E2F1	1869	broad.mit.edu	37	20	32267608	32267608	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32267608C>A	uc002wzu.3	-	3	665	c.525G>T	c.(523-525)GAG>GAT	p.E175D		NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	175	DEF box.|Potential.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	32267608	32267608	5052	20	C	A	A	24	24	E2F1	A	2	2
NCOA6	23054	broad.mit.edu	37	20	33337933	33337933	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33337933G>T	uc002xav.2	-	10	4636	c.2065C>A	c.(2065-2067)CCA>ACA	p.P689T	NCOA6_uc002xaw.2_Missense_Mutation_p.P689T	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	689	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	33337933	33337933	10632	20	G	T	T	43	43	NCOA6	T	2	2
NCOA6	23054	broad.mit.edu	37	20	33345159	33345159	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33345159G>T	uc002xav.2	-	8	3963	c.1392C>A	c.(1390-1392)CCC>CCA	p.P464P	NCOA6_uc002xaw.2_Silent_p.P464P|NCOA6_uc010gew.1_Silent_p.P421P	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	464	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7																		---	---	---	---	capture		Silent	SNP	33345159	33345159	10632	20	G	T	T	43	43	NCOA6	T	2	2
RBM12	10137	broad.mit.edu	37	20	34241817	34241817	+	Silent	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34241817T>C	uc002xdq.2	-	3	1660	c.1428A>G	c.(1426-1428)GTA>GTG	p.V476V	CPNE1_uc010zvj.1_5'UTR|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.V476V|RBM12_uc002xds.2_Silent_p.V476V	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	476	RRM 2.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)													OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---	capture		Silent	SNP	34241817	34241817	13574	20	T	C	C	53	53	RBM12	C	4	4
PLCG1	5335	broad.mit.edu	37	20	39800875	39800875	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39800875C>A	uc002xjp.1	+	25	2972	c.2851C>A	c.(2851-2853)CTG>ATG	p.L951M	PLCG1_uc002xjo.1_Missense_Mutation_p.L951M|PLCG1_uc010zwe.1_Missense_Mutation_p.L577M	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	951					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Missense_Mutation	SNP	39800875	39800875	12461	20	C	A	A	24	24	PLCG1	A	2	2
PTPRT	11122	broad.mit.edu	37	20	40735489	40735489	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40735489C>A	uc002xkg.2	-	24	3511	c.3327G>T	c.(3325-3327)GTG>GTT	p.V1109V	PTPRT_uc010ggj.2_Silent_p.V1128V|PTPRT_uc010ggi.2_Silent_p.V312V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1109	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)																---	---	---	---	capture		Silent	SNP	40735489	40735489	13270	20	C	A	A	21	21	PTPRT	A	2	2
R3HDML	140902	broad.mit.edu	37	20	42965955	42965955	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42965955G>T	uc002xls.1	+	1	330	c.158G>T	c.(157-159)CGC>CTC	p.R53L		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	53						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---	capture		Missense_Mutation	SNP	42965955	42965955	13348	20	G	T	T	38	38	R3HDML	T	1	1
PCK1	5105	broad.mit.edu	37	20	56137948	56137948	+	Silent	SNP	T	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56137948T>A	uc002xyn.3	+	4	766	c.603T>A	c.(601-603)CCT>CCA	p.P201P	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	201					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)															---	---	---	---	capture		Silent	SNP	56137948	56137948	12001	20	T	A	A	56	56	PCK1	A	4	4
ZNF831	128611	broad.mit.edu	37	20	57769790	57769790	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57769790G>C	uc002yan.2	+	1	3716	c.3716G>C	c.(3715-3717)GGA>GCA	p.G1239A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1239						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---	capture		Missense_Mutation	SNP	57769790	57769790	18784	20	G	C	C	41	41	ZNF831	C	3	3
ZNF831	128611	broad.mit.edu	37	20	57829123	57829123	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57829123C>A	uc002yan.2	+	5	4359	c.4359C>A	c.(4357-4359)TCC>TCA	p.S1453S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1453						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---	capture		Silent	SNP	57829123	57829123	18784	20	C	A	A	22	22	ZNF831	A	2	2
C20orf11	54994	broad.mit.edu	37	20	61576136	61576136	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61576136G>T	uc002ydy.2	+	5	736	c.559G>T	c.(559-561)GAG>TAG	p.E187*		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	chromosome 20 open reading frame 11	187						nucleus	protein binding				0	Breast(26;5.68e-08)																	---	---	---	---	capture		Nonsense_Mutation	SNP	61576136	61576136	2155	20	G	T	T	37	37	C20orf11	T	5	1
COL20A1	57642	broad.mit.edu	37	20	61959481	61959481	+	Splice_Site	SNP	T	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61959481T>A	uc011aau.1	+	33	3713	c.3613_splice	c.e33+2	p.S1205_splice	COL20A1_uc011aav.1_Nonsense_Mutation_p.C1026*	NM_020882	NP_065933			collagen, type XX, alpha 1						cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)																	---	---	---	---	capture		Splice_Site	SNP	61959481	61959481	3817	20	T	A	A	59	59	COL20A1	A	5	4
ZNF512B	57473	broad.mit.edu	37	20	62595499	62595499	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62595499C>G	uc002yhl.1	-	8	1459	c.1405G>C	c.(1405-1407)GCC>CCC	p.A469P		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---	capture		Missense_Mutation	SNP	62595499	62595499	18551	20	C	G	G	27	27	ZNF512B	G	3	3
GART	2618	broad.mit.edu	37	21	34889859	34889859	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34889859C>A	uc002yrx.2	-	15	1894	c.1759G>T	c.(1759-1761)GGG>TGG	p.G587W	GART_uc002yrz.2_Missense_Mutation_p.G587W|GART_uc010gmd.2_Missense_Mutation_p.G249W|GART_uc002yry.2_Missense_Mutation_p.G587W	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	587	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)													---	---	---	---	capture		Missense_Mutation	SNP	34889859	34889859	6507	21	C	A	A	21	21	GART	A	2	2
TTC3	7267	broad.mit.edu	37	21	38568106	38568106	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38568106C>A	uc002yvz.2	+	42	5453	c.5348C>A	c.(5347-5349)CCA>CAA	p.P1783Q	TTC3_uc002ywa.2_Missense_Mutation_p.P1783Q|TTC3_uc002ywb.2_Missense_Mutation_p.P1783Q|TTC3_uc010gnf.2_Missense_Mutation_p.P1548Q|TTC3_uc002ywc.2_Missense_Mutation_p.P1473Q	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1783					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---	capture		Missense_Mutation	SNP	38568106	38568106	17252	21	C	A	A	21	21	TTC3	A	2	2
PCNT	5116	broad.mit.edu	37	21	47847543	47847543	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47847543C>A	uc002zji.3	+	34	7435	c.7328C>A	c.(7327-7329)CCC>CAC	p.P2443H	PCNT_uc002zjj.2_Missense_Mutation_p.P2325H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2443					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---	capture		Missense_Mutation	SNP	47847543	47847543	12010	21	C	A	A	22	22	PCNT	A	2	2
C22orf25	128989	broad.mit.edu	37	22	20030920	20030920	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20030920C>A	uc010grw.1	+	4	436	c.99C>A	c.(97-99)CCC>CCA	p.P33P	C22orf25_uc002zrb.1_Silent_p.P33P|C22orf25_uc002zrc.1_Silent_p.P33P|C22orf25_uc002zrd.1_5'UTR|C22orf25_uc002zre.2_Silent_p.P33P|C22orf25_uc010grx.2_5'UTR|C22orf25_uc011ahe.1_RNA|C22orf25_uc011ahf.1_Silent_p.P33P|C22orf25_uc011ahg.1_Silent_p.P74P|C22orf25_uc002zrg.2_Silent_p.P74P|C22orf25_uc011ahh.1_Silent_p.P33P|C22orf25_uc002zrf.2_Silent_p.P33P|C22orf25_uc011ahi.1_5'UTR|C22orf25_uc010gry.1_RNA|C22orf25_uc002zrh.1_5'UTR	NM_152906	NP_690870	Q6ICL3	CV025_HUMAN	hypothetical protein LOC128989	33											0	Colorectal(54;0.0533)																	---	---	---	---	capture		Silent	SNP	20030920	20030920	2219	22	C	A	A	24	24	C22orf25	A	2	2
ZNF280B	140883	broad.mit.edu	37	22	22843151	22843151	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22843151C>A	uc002zwc.1	-	4	1349	c.573G>T	c.(571-573)AGG>AGT	p.R191S	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)														---	---	---	---	capture		Missense_Mutation	SNP	22843151	22843151	18407	22	C	A	A	22	22	ZNF280B	A	2	2
CHCHD10	400916	broad.mit.edu	37	22	24108318	24108318	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24108318G>T	uc002zxw.2	-	3	486	c.406C>A	c.(406-408)CAT>AAT	p.H136N		NM_213720	NP_998885	Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain	136						mitochondrion					0																		---	---	---	---	capture		Missense_Mutation	SNP	24108318	24108318	3449	22	G	T	T	47	47	CHCHD10	T	2	2
RFPL1	5988	broad.mit.edu	37	22	29837623	29837623	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29837623C>T	uc003afn.2	+	2	675	c.466C>T	c.(466-468)CGG>TGG	p.R156W	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	156	B30.2/SPRY.						zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	29837623	29837623	13724	22	C	T	T	31	31	RFPL1	T	1	1
MTMR3	8897	broad.mit.edu	37	22	30415997	30415997	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30415997C>A	uc003agv.3	+	17	2677	c.2349C>A	c.(2347-2349)CCC>CCA	p.P783P	MTMR3_uc003agu.3_Silent_p.P783P|MTMR3_uc003agw.3_Silent_p.P783P	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	783					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)															---	---	---	---	capture		Silent	SNP	30415997	30415997	10338	22	C	A	A	21	21	MTMR3	A	2	2
PATZ1	23598	broad.mit.edu	37	22	31741322	31741322	+	Silent	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31741322G>A	uc003akq.2	-	1	928	c.267C>T	c.(265-267)GGC>GGT	p.G89G	PATZ1_uc003akp.2_Silent_p.G89G|PATZ1_uc003akr.2_Silent_p.G89G|PATZ1_uc003aks.2_Silent_p.G89G|uc003akt.2_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	89	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2																		---	---	---	---	capture		Silent	SNP	31741322	31741322	11896	22	G	A	A	38	38	PATZ1	A	1	1
C22orf30	253143	broad.mit.edu	37	22	32108241	32108241	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32108241C>A	uc003alp.3	-	4	5777	c.5584G>T	c.(5584-5586)GGG>TGG	p.G1862W	C22orf30_uc003alo.1_Missense_Mutation_p.G1661W|C22orf30_uc010gwj.1_Missense_Mutation_p.G1661W	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	hypothetical protein LOC253143	1862											0																		---	---	---	---	capture		Missense_Mutation	SNP	32108241	32108241	2223	22	C	A	A	24	24	C22orf30	A	2	2
SLC5A1	6523	broad.mit.edu	37	22	32495287	32495287	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32495287C>A	uc003amc.2	+	12	1630	c.1398C>A	c.(1396-1398)CCC>CCA	p.P466P	SLC5A1_uc011alz.1_Silent_p.P339P	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	466	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	32495287	32495287	15158	22	C	A	A	21	21	SLC5A1	A	2	2
LARGE	9215	broad.mit.edu	37	22	34000433	34000433	+	Silent	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:34000433T>C	uc003and.3	-	6	1182	c.603A>G	c.(601-603)GCA>GCG	p.A201A	LARGE_uc003ane.3_Silent_p.A201A|LARGE_uc010gwp.2_Silent_p.A201A|LARGE_uc011ame.1_Silent_p.A133A|LARGE_uc011amf.1_Silent_p.A201A	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	201	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)																---	---	---	---	capture		Silent	SNP	34000433	34000433	8950	22	T	C	C	55	55	LARGE	C	4	4
TOM1	10043	broad.mit.edu	37	22	35723368	35723368	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35723368G>T	uc003ann.2	+	7	878	c.753G>T	c.(751-753)CTG>CTT	p.L251L	TOM1_uc011ami.1_Silent_p.L218L|TOM1_uc011amj.1_Silent_p.L94L|TOM1_uc003ans.2_Silent_p.L94L|TOM1_uc011amk.1_Silent_p.L213L|TOM1_uc003anp.2_Silent_p.L251L|TOM1_uc011aml.1_Silent_p.L206L|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Silent_p.L245L|TOM1_uc003anr.2_Silent_p.L94L	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	251	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	35723368	35723368	16892	22	G	T	T	47	47	TOM1	T	2	2
MB	4151	broad.mit.edu	37	22	36003352	36003352	+	Nonsense_Mutation	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36003352G>A	uc003anz.2	-	3	537	c.457C>T	c.(457-459)CAG>TAG	p.Q153*	MB_uc003aoa.2_Nonsense_Mutation_p.Q153*|MB_uc003aob.2_Nonsense_Mutation_p.Q153*	NM_005368	NP_005359	P02144	MYG_HUMAN	myoglobin	153							heme binding|oxygen transporter activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	36003352	36003352	9725	22	G	A	A	47	47	MB	A	5	2
SOX10	6663	broad.mit.edu	37	22	38370113	38370113	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38370113C>A	uc003aun.1	-	4	1068	c.790G>T	c.(790-792)GGG>TGG	p.G264W	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.G264W	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	264						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)																	---	---	---	---	capture		Missense_Mutation	SNP	38370113	38370113	15441	22	C	A	A	22	22	SOX10	A	2	2
CACNA1I	8911	broad.mit.edu	37	22	40045840	40045840	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40045840C>A	uc003ayc.2	+	10	1902	c.1902C>A	c.(1900-1902)CGC>CGA	p.R634R	CACNA1I_uc003ayd.2_Silent_p.R599R|CACNA1I_uc003aye.2_Silent_p.R549R|CACNA1I_uc003ayf.2_Silent_p.R514R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	634	II.|Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---	capture		Silent	SNP	40045840	40045840	2662	22	C	A	A	27	27	CACNA1I	A	1	1
ENTHD1	150350	broad.mit.edu	37	22	40217076	40217076	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40217076G>T	uc003ayg.2	-	5	1005	c.754C>A	c.(754-756)CTA>ATA	p.L252I		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	252										ovary(2)|skin(1)	3	Melanoma(58;0.0749)																	---	---	---	---	capture		Missense_Mutation	SNP	40217076	40217076	5330	22	G	T	T	36	36	ENTHD1	T	2	2
RANGAP1	5905	broad.mit.edu	37	22	41647034	41647034	+	Missense_Mutation	SNP	C	A	A	rs139565299		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41647034C>A	uc003azs.2	-	12	2930	c.1460G>T	c.(1459-1461)AGG>ATG	p.R487M	RANGAP1_uc003azt.2_Missense_Mutation_p.R487M|RANGAP1_uc003azu.2_Missense_Mutation_p.R487M|RANGAP1_uc003azr.2_Translation_Start_Site|RANGAP1_uc010gyk.2_Translation_Start_Site|RANGAP1_uc011aoz.1_Missense_Mutation_p.R432M	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	487					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	41647034	41647034	13493	22	C	A	A	24	24	RANGAP1	A	2	2
WBP2NL	164684	broad.mit.edu	37	22	42423027	42423027	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42423027G>T	uc011ape.1	+	7	788	c.772G>T	c.(772-774)GGA>TGA	p.G258*	WBP2NL_uc003bbt.2_Nonsense_Mutation_p.G258*|WBP2NL_uc011apk.1_Nonsense_Mutation_p.G130*|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	258	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|9.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			ovary(2)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	42423027	42423027	17832	22	G	T	T	39	39	WBP2NL	T	5	1
TCF20	6942	broad.mit.edu	37	22	42609031	42609031	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42609031G>T	uc003bcj.1	-	1	2415	c.2281C>A	c.(2281-2283)CAC>AAC	p.H761N	TCF20_uc003bck.1_Missense_Mutation_p.H761N|TCF20_uc003bnt.2_Missense_Mutation_p.H761N	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	42609031	42609031	16216	22	G	T	T	47	47	TCF20	T	2	2
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45258268	45258268	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45258268C>A	uc003bfd.2	+	17	1997	c.1725C>A	c.(1723-1725)CCC>CCA	p.P575P	PRR5-ARHGAP8_uc003bfc.2_Silent_p.P496P|PRR5-ARHGAP8_uc011aqi.1_Silent_p.P487P|PRR5-ARHGAP8_uc011aqj.1_Silent_p.P418P|ARHGAP8_uc010gzv.2_3'UTR|ARHGAP8_uc003bfj.2_Silent_p.P396P|ARHGAP8_uc003bfk.2_Silent_p.P365P|ARHGAP8_uc003bfl.2_RNA	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2																		---	---	---	---	capture		Silent	SNP	45258268	45258268	13050	22	C	A	A	22	22	PRR5-ARHGAP8	A	2	2
BRD1	23774	broad.mit.edu	37	22	50217798	50217798	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50217798G>T	uc003biv.2	-	1	655	c.168C>A	c.(166-168)CCC>CCA	p.P56P	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.P56P|BRD1_uc011arh.1_Silent_p.P56P|BRD1_uc003biu.3_Silent_p.P56P	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	56					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)														---	---	---	---	capture		Silent	SNP	50217798	50217798	1532	22	G	T	T	43	43	BRD1	T	2	2
SAPS2	9701	broad.mit.edu	37	22	50861936	50861936	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50861936G>T	uc003blb.1	+	11	1440	c.1018G>T	c.(1018-1020)GGG>TGG	p.G340W	SAPS2_uc003bky.1_Missense_Mutation_p.G340W|SAPS2_uc003bkz.1_Missense_Mutation_p.G340W|SAPS2_uc003blc.2_Missense_Mutation_p.G340W|SAPS2_uc003bla.1_Missense_Mutation_p.G341W|uc011arw.1_5'Flank	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	340						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)														---	---	---	---	capture		Missense_Mutation	SNP	50861936	50861936	14318	22	G	T	T	43	43	SAPS2	T	2	2
EDEM1	9695	broad.mit.edu	37	3	5249922	5249922	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:5249922G>T	uc003bqi.2	+	8	1615	c.1483G>T	c.(1483-1485)GTG>TTG	p.V495L	EDEM1_uc011asz.1_Missense_Mutation_p.V273L|EDEM1_uc003bqh.2_Missense_Mutation_p.V495L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	495	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)														---	---	---	---	capture		Missense_Mutation	SNP	5249922	5249922	5098	3	G	T	T	36	36	EDEM1	T	2	2
THUMPD3	25917	broad.mit.edu	37	3	9425899	9425899	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9425899G>T	uc003bro.3	+	9	1387	c.1239G>T	c.(1237-1239)ATG>ATT	p.M413I	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.M413I	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	413							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)														---	---	---	---	capture		Missense_Mutation	SNP	9425899	9425899	16412	3	G	T	T	47	47	THUMPD3	T	2	2
BRPF1	7862	broad.mit.edu	37	3	9776016	9776016	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9776016G>T	uc003bse.2	+	2	591	c.192G>T	c.(190-192)AAG>AAT	p.K64N	BRPF1_uc003bsf.2_Missense_Mutation_p.K64N|BRPF1_uc003bsg.2_Missense_Mutation_p.K64N|BRPF1_uc011ati.1_Missense_Mutation_p.K64N	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	64	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)																	---	---	---	---	capture		Missense_Mutation	SNP	9776016	9776016	1551	3	G	T	T	35	35	BRPF1	T	2	2
ZFYVE20	64145	broad.mit.edu	37	3	15115590	15115590	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15115590G>T	uc003bzm.1	-	14	2668	c.2054C>A	c.(2053-2055)CCA>CAA	p.P685Q	ZFYVE20_uc010hek.1_Missense_Mutation_p.P685Q	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	685	Necessary for the interaction with RAB5A.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	15115590	15115590	18256	3	G	T	T	47	47	ZFYVE20	T	2	2
SH3BP5	9467	broad.mit.edu	37	3	15301308	15301308	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15301308G>T	uc003bzp.1	-	6	818	c.629C>A	c.(628-630)CCT>CAT	p.P210H	SH3BP5_uc010hem.1_Intron|SH3BP5_uc003bzq.1_Missense_Mutation_p.P53H|SH3BP5_uc003bzr.1_Missense_Mutation_p.P53H|uc003bzo.1_RNA	NM_004844	NP_004835	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	210					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	15301308	15301308	14738	3	G	T	T	35	35	SH3BP5	T	2	2
SCN10A	6336	broad.mit.edu	37	3	38805039	38805039	+	Silent	SNP	T	G	G	rs150977149	byFrequency	TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38805039T>G	uc003ciq.2	-	5	648	c.648A>C	c.(646-648)ACA>ACC	p.T216T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	216	I.|Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)													---	---	---	---	capture		Silent	SNP	38805039	38805039	14394	3	T	G	G	51	51	SCN10A	G	4	4
ZNF619	285267	broad.mit.edu	37	3	40524167	40524167	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:40524167G>T	uc011azb.1	+	5	665	c.387G>T	c.(385-387)GGG>GGT	p.G129G	ZNF619_uc010hhz.2_Missense_Mutation_p.G57W|ZNF619_uc003ckj.2_Missense_Mutation_p.G57W|ZNF619_uc011azc.1_Silent_p.G89G|ZNF619_uc011azd.1_Silent_p.G45G|ZNF619_uc011aza.1_Silent_p.G31G	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619 isoform 1	129					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---	capture		Silent	SNP	40524167	40524167	18638	3	G	T	T	43	43	ZNF619	T	2	2
COL7A1	1294	broad.mit.edu	37	3	48618883	48618883	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48618883G>T	uc003ctz.2	-	50	4817	c.4816C>A	c.(4816-4818)CCA>ACA	p.P1606T	MIR711_hsa-mir-711|MI0012488_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1606	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---	capture		Missense_Mutation	SNP	48618883	48618883	3842	3	G	T	T	43	43	COL7A1	T	2	2
CELSR3	1951	broad.mit.edu	37	3	48664368	48664368	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48664368T>C	uc003cuf.1	-	53	12172	c.12172A>G	c.(12172-12174)ATC>GTC	p.I4058V	SLC26A6_uc003cug.2_Missense_Mutation_p.I651V|SLC26A6_uc003cuh.2_Missense_Mutation_p.I672V|SLC26A6_uc010hke.2_Missense_Mutation_p.I504V|SLC26A6_uc003cuk.2_Missense_Mutation_p.I564V|SLC26A6_uc003cui.2_Missense_Mutation_p.I671V|SLC26A6_uc003cuj.2_Missense_Mutation_p.I653V|SLC26A6_uc011bbp.1_Missense_Mutation_p.I636V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---	capture		Missense_Mutation	SNP	48664368	48664368	3356	3	T	C	C	51	51	CELSR3	C	4	4
IQCF2	389123	broad.mit.edu	37	3	51895936	51895936	+	Silent	SNP	A	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51895936A>C	uc003dbt.1	+	2	119	c.81A>C	c.(79-81)ACA>ACC	p.T27T	IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	27											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)														---	---	---	---	capture		Silent	SNP	51895936	51895936	8109	3	A	C	C	8	8	IQCF2	C	4	4
GNL3	26354	broad.mit.edu	37	3	52724612	52724612	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52724612G>T	uc003dfd.2	+	7	719	c.546G>T	c.(544-546)CTG>CTT	p.L182L	GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Silent_p.L170L|GNL3_uc003dff.2_Silent_p.L170L|SNORD19B_uc010hml.1_5'Flank|SNORD69_uc003dfh.1_5'Flank	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3	182					regulation of cell proliferation	nucleolus	GTP binding|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)														---	---	---	---	capture		Silent	SNP	52724612	52724612	6806	3	G	T	T	47	47	GNL3	T	2	2
ITIH1	3697	broad.mit.edu	37	3	52819059	52819059	+	Splice_Site	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52819059G>T	uc003dfs.2	+	12	1432	c.1408_splice	c.e12-1	p.G470_splice	ITIH1_uc010hmn.1_Splice_Site|ITIH1_uc003dft.2_Splice_Site_p.G71_splice|ITIH1_uc010hmo.1_Splice_Site_p.G24_splice|ITIH1_uc003dfu.2_5'Flank	NM_002215	NP_002206			inter-alpha (globulin) inhibitor H1						hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)														---	---	---	---	capture		Splice_Site	SNP	52819059	52819059	8207	3	G	T	T	35	35	ITIH1	T	5	2
CACNA2D3	55799	broad.mit.edu	37	3	54905622	54905622	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54905622G>T	uc003dhf.2	+	18	1731	c.1683G>T	c.(1681-1683)GAG>GAT	p.E561D	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E467D|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E295D	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	561	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---	capture		Missense_Mutation	SNP	54905622	54905622	2666	3	G	T	T	35	35	CACNA2D3	T	2	2
C3orf63	23272	broad.mit.edu	37	3	56661628	56661628	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56661628G>T	uc003did.3	-	19	3930	c.3829C>A	c.(3829-3831)CCA>ACA	p.P1277T	C3orf63_uc003dib.3_Missense_Mutation_p.P396T|C3orf63_uc003dic.3_Missense_Mutation_p.P901T|C3orf63_uc003die.3_Missense_Mutation_p.P1338T	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1338										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)														---	---	---	---	capture		Missense_Mutation	SNP	56661628	56661628	2332	3	G	T	T	43	43	C3orf63	T	2	2
COL8A1	1295	broad.mit.edu	37	3	99514756	99514756	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99514756G>T	uc003dtg.1	+	5	2256	c.2011G>T	c.(2011-2013)GGG>TGG	p.G671W	COL8A1_uc003dth.1_Missense_Mutation_p.G671W|COL8A1_uc003dti.1_Missense_Mutation_p.G672W	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	671	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0																		---	---	---	---	capture		Missense_Mutation	SNP	99514756	99514756	3843	3	G	T	T	43	43	COL8A1	T	2	2
ABI3BP	25890	broad.mit.edu	37	3	100469395	100469395	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100469395G>T	uc003dun.2	-	35	3257	c.3172C>A	c.(3172-3174)CAA>AAA	p.Q1058K	ABI3BP_uc003duj.2_Missense_Mutation_p.Q638K|ABI3BP_uc003duk.2_Missense_Mutation_p.Q767K|ABI3BP_uc003dul.2_Missense_Mutation_p.Q888K|ABI3BP_uc011bhd.1_Missense_Mutation_p.Q1012K|ABI3BP_uc003dum.2_Missense_Mutation_p.Q469K	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	1058						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	100469395	100469395	92	3	G	T	T	47	47	ABI3BP	T	2	2
DZIP3	9666	broad.mit.edu	37	3	108373066	108373066	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108373066A>T	uc003dxd.2	+	19	2530	c.2108A>T	c.(2107-2109)AAA>ATA	p.K703I	DZIP3_uc003dxf.1_Missense_Mutation_p.K703I|DZIP3_uc011bhm.1_Missense_Mutation_p.K154I|DZIP3_uc003dxg.1_Missense_Mutation_p.K426I	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	703					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	108373066	108373066	5051	3	A	T	T	1	1	DZIP3	T	4	4
SLC35A5	55032	broad.mit.edu	37	3	112300035	112300035	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112300035G>T	uc003dze.2	+	6	1316	c.1071G>T	c.(1069-1071)CTG>CTT	p.L357L		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	357	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	112300035	112300035	15071	3	G	T	T	47	47	SLC35A5	T	2	2
CCDC80	151887	broad.mit.edu	37	3	112357818	112357818	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112357818T>A	uc003dzf.2	-	2	1153	c.935A>T	c.(934-936)AAA>ATA	p.K312I	CCDC80_uc011bhv.1_Missense_Mutation_p.K312I|CCDC80_uc003dzg.2_Missense_Mutation_p.K312I|CCDC80_uc003dzh.1_Missense_Mutation_p.K312I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	312										ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	112357818	112357818	2978	3	T	A	A	64	64	CCDC80	A	4	4
SIDT1	54847	broad.mit.edu	37	3	113286504	113286504	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113286504C>A	uc003eak.2	+	3	1113	c.462C>A	c.(460-462)CCC>CCA	p.P154P	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.P154P|SIDT1_uc011big.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	154	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5																		---	---	---	---	capture		Silent	SNP	113286504	113286504	14797	3	C	A	A	22	22	SIDT1	A	2	2
POLQ	10721	broad.mit.edu	37	3	121206859	121206859	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121206859G>T	uc003eee.3	-	16	5048	c.4919C>A	c.(4918-4920)CCA>CAA	p.P1640Q	POLQ_uc003eed.2_Missense_Mutation_p.P812Q	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1640					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---	capture		Missense_Mutation	SNP	121206859	121206859	12636	3	G	T	T	47	47	POLQ	T	2	2
PARP14	54625	broad.mit.edu	37	3	122418630	122418630	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122418630G>T	uc003efq.3	+	6	1288	c.1229G>T	c.(1228-1230)TGG>TTG	p.W410L	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.W127L|PARP14_uc003efs.1_Missense_Mutation_p.W127L	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)														---	---	---	---	capture		Missense_Mutation	SNP	122418630	122418630	11875	3	G	T	T	47	47	PARP14	T	2	2
SEMA5B	54437	broad.mit.edu	37	3	122641184	122641184	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122641184C>A	uc003efz.1	-	11	1687	c.1383G>T	c.(1381-1383)GAG>GAT	p.E461D	SEMA5B_uc011bju.1_Missense_Mutation_p.E403D|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E461D|SEMA5B_uc010hro.1_Missense_Mutation_p.E403D|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	461	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)														---	---	---	---	capture		Missense_Mutation	SNP	122641184	122641184	14524	3	C	A	A	28	28	SEMA5B	A	2	2
MYLK	4638	broad.mit.edu	37	3	123339143	123339143	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123339143G>T	uc003ego.2	-	32	5561	c.5279C>A	c.(5278-5280)TCT>TAT	p.S1760Y	uc003egk.2_Intron|MYLK_uc003egl.2_5'UTR|MYLK_uc003egm.2_5'UTR|MYLK_uc010hrr.2_Missense_Mutation_p.S195Y|MYLK_uc011bjv.1_Missense_Mutation_p.S560Y|MYLK_uc011bjw.1_Missense_Mutation_p.S1760Y|MYLK_uc003egp.2_Missense_Mutation_p.S1691Y|MYLK_uc003egq.2_Missense_Mutation_p.S1709Y|MYLK_uc003egr.2_Missense_Mutation_p.S1640Y|MYLK_uc003egs.2_Missense_Mutation_p.S1584Y	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1760	Calmodulin-binding.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)														---	---	---	---	capture		Missense_Mutation	SNP	123339143	123339143	10451	3	G	T	T	33	33	MYLK	T	2	2
KALRN	8997	broad.mit.edu	37	3	124380707	124380707	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124380707G>T	uc003ehg.2	+	45	6401	c.6274G>T	c.(6274-6276)GAG>TAG	p.E2092*	KALRN_uc003ehi.2_Nonsense_Mutation_p.E433*|KALRN_uc003ehk.2_Nonsense_Mutation_p.E395*|KALRN_uc011bjz.1_Nonsense_Mutation_p.E184*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2091	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Nonsense_Mutation	SNP	124380707	124380707	8279	3	G	T	T	41	41	KALRN	T	5	2
KALRN	8997	broad.mit.edu	37	3	124393451	124393451	+	Missense_Mutation	SNP	G	T	T	rs150398770		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124393451G>T	uc003ehg.2	+	49	7310	c.7183G>T	c.(7183-7185)GGG>TGG	p.G2395W	KALRN_uc003ehi.2_Missense_Mutation_p.G735W|KALRN_uc003ehk.2_Missense_Mutation_p.G698W|KALRN_uc011bjz.1_Missense_Mutation_p.G486W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2394					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	124393451	124393451	8279	3	G	T	T	39	39	KALRN	T	1	1
UROC1	131669	broad.mit.edu	37	3	126207057	126207057	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126207057C>A	uc003eiz.1	-	18	1806	c.1774G>T	c.(1774-1776)GGA>TGA	p.G592*	UROC1_uc010hsi.1_Nonsense_Mutation_p.G652*	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	592					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)														---	---	---	---	capture		Nonsense_Mutation	SNP	126207057	126207057	17590	3	C	A	A	23	23	UROC1	A	5	1
SEC61A1	29927	broad.mit.edu	37	3	127786843	127786843	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127786843G>T	uc003ekb.2	+	11	1369	c.1185G>T	c.(1183-1185)AAG>AAT	p.K395N	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Missense_Mutation_p.K342N|SEC61A1_uc003ekd.2_Missense_Mutation_p.K275N|SEC61A1_uc003ekg.2_Missense_Mutation_p.K89N	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	395	Cytoplasmic (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1																OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	127786843	127786843	14486	3	G	T	T	35	35	SEC61A1	T	2	2
RAB43	339122	broad.mit.edu	37	3	128848948	128848948	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128848948T>G	uc003elo.1	-	11	1045	c.834A>C	c.(832-834)GAA>GAC	p.E278D	ISY1_uc010hsz.1_Missense_Mutation_p.E98D|ISY1_uc003elp.1_Missense_Mutation_p.E278D|ISY1_uc010hta.1_Missense_Mutation_p.E300D	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN	ISY1 splicing factor homolog	Error:Variant_position_missing_in_Q86YS6_after_alignment					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	128848948	128848948	13404	3	T	G	G	56	56	RAB43	G	4	4
PIK3R4	30849	broad.mit.edu	37	3	130398279	130398279	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130398279C>A	uc003enj.2	-	20	4538	c.3957G>T	c.(3955-3957)AGG>AGT	p.R1319S		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1319					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12																		---	---	---	---	capture		Missense_Mutation	SNP	130398279	130398279	12345	3	C	A	A	22	22	PIK3R4	A	2	2
MRPL3	11222	broad.mit.edu	37	3	131181652	131181652	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:131181652G>T	uc003eoh.2	-	10	1126	c.962C>A	c.(961-963)CCT>CAT	p.P321H	MRPL3_uc011blo.1_Missense_Mutation_p.P216H|MRPL3_uc011blp.1_Missense_Mutation_p.P348H	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	321					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0																		---	---	---	---	capture		Missense_Mutation	SNP	131181652	131181652	10186	3	G	T	T	35	35	MRPL3	T	2	2
SOX14	8403	broad.mit.edu	37	3	137484005	137484005	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137484005G>A	uc003erm.1	+	1	427	c.379G>A	c.(379-381)GCC>ACC	p.A127T		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	127					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	137484005	137484005	15445	3	G	A	A	42	42	SOX14	A	2	2
IGSF10	285313	broad.mit.edu	37	3	151164397	151164397	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151164397G>T	uc011bod.1	-	4	3372	c.3372C>A	c.(3370-3372)CCC>CCA	p.P1124P		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1124					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Silent	SNP	151164397	151164397	7898	3	G	T	T	47	47	IGSF10	T	2	2
PHC3	80012	broad.mit.edu	37	3	169835124	169835124	+	Missense_Mutation	SNP	T	A	A	rs138410529	by1000genomes	TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169835124T>A	uc010hws.1	-	10	2111	c.2047A>T	c.(2047-2049)AGT>TGT	p.S683C	PHC3_uc003fgl.2_Missense_Mutation_p.S695C|PHC3_uc011bpq.1_Missense_Mutation_p.S642C	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	683					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---	capture		Missense_Mutation	SNP	169835124	169835124	12241	3	T	A	A	55	55	PHC3	A	4	4
ZNF639	51193	broad.mit.edu	37	3	179051978	179051978	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179051978G>T	uc003fjq.1	+	6	1569	c.1226G>T	c.(1225-1227)GGG>GTG	p.G409V	ZNF639_uc003fjr.1_Missense_Mutation_p.G409V	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	zinc finger protein 639	409	Interaction with CTNNA2.|C2H2-type 6.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---	capture		Missense_Mutation	SNP	179051978	179051978	18651	3	G	T	T	43	43	ZNF639	T	2	2
BCL6	604	broad.mit.edu	37	3	187447083	187447083	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:187447083G>T	uc003frp.3	-	5	1567	c.1110C>A	c.(1108-1110)CCC>CCA	p.P370P	BCL6_uc011bsf.1_Silent_p.P370P|BCL6_uc010hza.2_Silent_p.P268P|BCL6_uc003frq.1_Silent_p.P370P	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	370					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)				T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								---	---	---	---	capture		Silent	SNP	187447083	187447083	1397	3	G	T	T	47	47	BCL6	T	2	2
MUC4	4585	broad.mit.edu	37	3	195498628	195498628	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195498628G>T	uc011bto.1	-	6	13213	c.12753C>A	c.(12751-12753)CCC>CCA	p.P4251P	MUC4_uc003fuz.2_Missense_Mutation_p.P59Q|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Silent_p.P120P|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Silent_p.P120P|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Silent_p.P143P|MUC4_uc003fvp.2_Silent_p.P92P|MUC4_uc010hzu.1_Silent_p.P991P	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1136					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)														---	---	---	---	capture		Silent	SNP	195498628	195498628	10372	3	G	T	T	47	47	MUC4	T	2	2
BDH1	622	broad.mit.edu	37	3	197259348	197259348	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197259348C>A	uc003fxr.2	-	5	604	c.202G>T	c.(202-204)GGG>TGG	p.G68W	BDH1_uc003fxs.2_Missense_Mutation_p.G68W|BDH1_uc003fxt.2_5'UTR|BDH1_uc003fxu.2_Missense_Mutation_p.G68W	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	68	NAD (By similarity).				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	197259348	197259348	1412	3	C	A	A	21	21	BDH1	A	2	2
FAM53A	152877	broad.mit.edu	37	4	1656817	1656817	+	Missense_Mutation	SNP	C	A	A	rs143343605	byFrequency	TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1656817C>A	uc011bve.1	-	4	968	c.770G>T	c.(769-771)CGG>CTG	p.R257L	FAM53A_uc010ibw.2_Missense_Mutation_p.R257L	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	257						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)															---	---	---	---	capture		Missense_Mutation	SNP	1656817	1656817	5801	4	C	A	A	23	23	FAM53A	A	1	1
LDB2	9079	broad.mit.edu	37	4	16504350	16504350	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16504350C>A	uc003goz.2	-	8	1354	c.1038G>T	c.(1036-1038)CTG>CTT	p.L346L	LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Silent_p.L344L|LDB2_uc011bxh.1_Silent_p.L318L|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Silent_p.L221L|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	346							LIM domain binding|transcription cofactor activity				0																		---	---	---	---	capture		Silent	SNP	16504350	16504350	9020	4	C	A	A	21	21	LDB2	A	2	2
BEND4	389206	broad.mit.edu	37	4	42145654	42145654	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42145654A>C	uc003gwn.2	-	3	1425	c.845T>G	c.(844-846)CTG>CGG	p.L282R	BEND4_uc003gwm.2_Missense_Mutation_p.L282R|BEND4_uc011byy.1_Missense_Mutation_p.L282R	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	282											0																		---	---	---	---	capture		Missense_Mutation	SNP	42145654	42145654	1423	4	A	C	C	7	7	BEND4	C	4	4
PDGFRA	5156	broad.mit.edu	37	4	55131190	55131190	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55131190C>A	uc003han.3	+	5	1064	c.733C>A	c.(733-735)CTT>ATT	p.L245I	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.L139I|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	245	Ig-like C2-type 3.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	55131190	55131190	12082	4	C	A	A	24	24	PDGFRA	A	2	2
SMR3A	26952	broad.mit.edu	37	4	71232555	71232555	+	Silent	SNP	C	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71232555C>G	uc003hfg.1	+	3	330	c.249C>G	c.(247-249)CCC>CCG	p.P83P	SMR3B_uc011cas.1_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3	83	Pro-rich.|Poly-Pro.					extracellular region					0		all_hematologic(202;0.196)																---	---	---	---	capture		Silent	SNP	71232555	71232555	15311	4	C	G	G	24	24	SMR3A	G	3	3
PPEF2	5470	broad.mit.edu	37	4	76817476	76817476	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76817476C>A	uc003hix.2	-	2	360	c.3G>T	c.(1-3)ATG>ATT	p.M1I	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.M1I	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	1					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)													OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	76817476	76817476	12738	4	C	A	A	21	21	PPEF2	A	2	2
ANKRD56	345079	broad.mit.edu	37	4	77816775	77816775	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77816775G>T	uc003hki.2	-	1	2228	c.2228C>A	c.(2227-2229)CCT>CAT	p.P743H		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	743											0																		---	---	---	---	capture		Missense_Mutation	SNP	77816775	77816775	690	4	G	T	T	35	35	ANKRD56	T	2	2
SEC31A	22872	broad.mit.edu	37	4	83748729	83748729	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83748729C>A	uc003hnf.2	-	24	3248	c.3084G>T	c.(3082-3084)TTG>TTT	p.L1028F	SEC31A_uc003hnd.2_Missense_Mutation_p.L197F|SEC31A_uc003hne.2_Missense_Mutation_p.L777F|SEC31A_uc011ccl.1_Missense_Mutation_p.L974F|SEC31A_uc003hnl.2_Missense_Mutation_p.L875F|SEC31A_uc003hng.2_Missense_Mutation_p.L1013F|SEC31A_uc003hnh.2_Missense_Mutation_p.L1028F|SEC31A_uc003hni.2_Missense_Mutation_p.L914F|SEC31A_uc003hnj.2_Missense_Mutation_p.L989F|SEC31A_uc011ccm.1_Missense_Mutation_p.L1008F|SEC31A_uc011ccn.1_Missense_Mutation_p.L1013F|SEC31A_uc003hnk.2_Missense_Mutation_p.L989F|SEC31A_uc003hnm.2_Missense_Mutation_p.L1028F	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	1028	Interaction with PDCD6.|Pro-rich.				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)																---	---	---	---	capture		Missense_Mutation	SNP	83748729	83748729	14484	4	C	A	A	21	21	SEC31A	A	2	2
CDS1	1040	broad.mit.edu	37	4	85525418	85525418	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85525418A>G	uc011ccv.1	+	2	638	c.140A>G	c.(139-141)TAT>TGT	p.Y47C		NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	47					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)														---	---	---	---	capture		Missense_Mutation	SNP	85525418	85525418	3306	4	A	G	G	16	16	CDS1	G	4	4
PDHA2	5161	broad.mit.edu	37	4	96761394	96761394	+	Missense_Mutation	SNP	C	A	A	rs143281239		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96761394C>A	uc003htr.3	+	1	156	c.93C>A	c.(91-93)GAC>GAA	p.D31E		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	31					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	96761394	96761394	12086	4	C	A	A	19	19	PDHA2	A	1	1
FAT4	79633	broad.mit.edu	37	4	126242434	126242434	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126242434G>T	uc003ifj.3	+	1	4868	c.4868G>T	c.(4867-4869)GGC>GTC	p.G1623V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1623	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---	capture		Missense_Mutation	SNP	126242434	126242434	5928	4	G	T	T	42	42	FAT4	T	2	2
ZFP42	132625	broad.mit.edu	37	4	188924324	188924324	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:188924324A>T	uc003izg.1	+	3	608	c.363A>T	c.(361-363)GAA>GAT	p.E121D	ZFP42_uc003izh.1_Missense_Mutation_p.E121D|ZFP42_uc003izi.1_Missense_Mutation_p.E121D	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	121					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)														---	---	---	---	capture		Missense_Mutation	SNP	188924324	188924324	18238	4	A	T	T	4	4	ZFP42	T	4	4
SEMA5A	9037	broad.mit.edu	37	5	9202246	9202246	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9202246G>T	uc003jek.2	-	9	1465	c.753C>A	c.(751-753)GCC>GCA	p.A251A		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	251	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	9202246	9202246	14523	5	G	T	T	43	43	SEMA5A	T	2	2
PRDM9	56979	broad.mit.edu	37	5	23523402	23523402	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23523402C>A	uc003jgo.2	+	9	1067	c.885C>A	c.(883-885)ATC>ATA	p.I295I		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	295	SET.			I -> VRRACHF (in Ref. 4; AAF87242).	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6															HNSCC(3;0.000094)			---	---	---	---	capture		Silent	SNP	23523402	23523402	12906	5	C	A	A	29	29	PRDM9	A	2	2
LMBRD2	92255	broad.mit.edu	37	5	36105250	36105250	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36105250T>C	uc003jkb.1	-	17	2362	c.1947A>G	c.(1945-1947)ATA>ATG	p.I649M	uc003jka.1_5'Flank	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	649	Cytoplasmic (Potential).					integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	36105250	36105250	9172	5	T	C	C	53	53	LMBRD2	C	4	4
NIPBL	25836	broad.mit.edu	37	5	37024753	37024753	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37024753A>G	uc003jkl.3	+	30	6140	c.5641A>G	c.(5641-5643)ACA>GCA	p.T1881A	NIPBL_uc003jkk.3_Missense_Mutation_p.T1881A	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1881	HEAT 2.				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	37024753	37024753	10829	5	A	G	G	2	2	NIPBL	G	4	4
GHR	2690	broad.mit.edu	37	5	42695076	42695076	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:42695076G>T	uc003jmt.2	+	5	367	c.324G>T	c.(322-324)GGG>GGT	p.G108G	GHR_uc011cpq.1_5'UTR	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	108	Extracellular (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)													---	---	---	---	capture		Silent	SNP	42695076	42695076	6639	5	G	T	T	43	43	GHR	T	2	2
GZMA	3001	broad.mit.edu	37	5	54401310	54401310	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54401310G>A	uc003jpm.2	+	2	116	c.79G>A	c.(79-81)GAA>AAA	p.E27K		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	27					cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)																---	---	---	---	capture		Missense_Mutation	SNP	54401310	54401310	7195	5	G	A	A	45	45	GZMA	A	2	2
DDX4	54514	broad.mit.edu	37	5	55075836	55075836	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55075836A>G	uc003jqg.3	+	8	513	c.439A>G	c.(439-441)AGA>GGA	p.R147G	DDX4_uc010ivz.2_Missense_Mutation_p.R127G|DDX4_uc003jqh.3_Intron|DDX4_uc003jqj.2_Intron	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	147	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---	capture		Missense_Mutation	SNP	55075836	55075836	4531	5	A	G	G	3	3	DDX4	G	4	4
BDP1	55814	broad.mit.edu	37	5	70806897	70806897	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70806897C>A	uc003kbp.1	+	17	4241	c.3978C>A	c.(3976-3978)ACC>ACA	p.T1326T	BDP1_uc003kbn.1_Silent_p.T1326T|BDP1_uc003kbo.2_Silent_p.T1326T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1326	9; approximate.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---	capture		Silent	SNP	70806897	70806897	1417	5	C	A	A	21	21	BDP1	A	2	2
PDE8B	8622	broad.mit.edu	37	5	76646894	76646894	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76646894G>T	uc003kfa.2	+	9	1067	c.1022G>T	c.(1021-1023)TGG>TTG	p.W341L	PDE8B_uc003kfb.2_Missense_Mutation_p.W321L|PDE8B_uc003kfc.2_Missense_Mutation_p.W341L|PDE8B_uc003kfd.2_Missense_Mutation_p.W294L|PDE8B_uc003kfe.2_Intron	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	341					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)														---	---	---	---	capture		Missense_Mutation	SNP	76646894	76646894	12075	5	G	T	T	47	47	PDE8B	T	2	2
GIN1	54826	broad.mit.edu	37	5	102433412	102433412	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102433412G>T	uc003koa.1	-	5	795	c.713C>A	c.(712-714)CCA>CAA	p.P238Q	GIN1_uc003kob.1_Missense_Mutation_p.P91Q|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	238	Integrase catalytic.				DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)														---	---	---	---	capture		Missense_Mutation	SNP	102433412	102433412	6654	5	G	T	T	47	47	GIN1	T	2	2
DDX46	9879	broad.mit.edu	37	5	134153324	134153324	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134153324G>T	uc003kzw.2	+	20	2917	c.2749G>T	c.(2749-2751)GAA>TAA	p.E917*		NM_014829	NP_055644	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	917					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---	capture		Nonsense_Mutation	SNP	134153324	134153324	4535	5	G	T	T	33	33	DDX46	T	5	2
PCDHA11	56138	broad.mit.edu	37	5	140249153	140249153	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140249153G>T	uc003lia.2	+	1	1323	c.465G>T	c.(463-465)GAG>GAT	p.E155D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.E155D	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	155	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140249153	140249153	11941	5	G	T	T	35	35	PCDHA11	T	2	2
PCDHB11	56125	broad.mit.edu	37	5	140579904	140579904	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140579904C>A	uc003liy.2	+	1	557	c.557C>A	c.(556-558)CCA>CAA	p.P186Q	PCDHB11_uc011daj.1_Intron	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	186	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Missense_Mutation	SNP	140579904	140579904	11956	5	C	A	A	21	21	PCDHB11	A	2	2
PCDHGA11	56105	broad.mit.edu	37	5	140801516	140801516	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140801516C>A	uc003lkq.1	+	1	980	c.722C>A	c.(721-723)CCA>CAA	p.P241Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.P241Q|PCDHGA11_uc003lkp.1_Missense_Mutation_p.P241Q	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	241	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140801516	140801516	11972	5	C	A	A	21	21	PCDHGA11	A	2	2
PCDH12	51294	broad.mit.edu	37	5	141337102	141337102	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141337102C>A	uc003llx.2	-	1	1526	c.315G>T	c.(313-315)CTG>CTT	p.L105L		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	105	Cadherin 1.|Extracellular (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	141337102	141337102	11930	5	C	A	A	21	21	PCDH12	A	2	2
CSNK1A1	1452	broad.mit.edu	37	5	148929646	148929646	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148929646G>T	uc003lqx.1	-	2	702	c.222C>A	c.(220-222)CCC>CCA	p.P74P	CSNK1A1_uc011dcc.1_5'UTR|CSNK1A1_uc003lqv.1_5'UTR|CSNK1A1_uc003lqw.1_Silent_p.P74P|CSNK1A1_uc003lqy.1_Silent_p.P74P|CSNK1A1_uc010jha.1_Silent_p.P74P	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	74	Protein kinase.			P -> T (in Ref. 4; AAV38633).	cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)														---	---	---	---	capture		Silent	SNP	148929646	148929646	4091	5	G	T	T	43	43	CSNK1A1	T	2	2
GPRIN1	114787	broad.mit.edu	37	5	176024762	176024762	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176024762C>A	uc003meo.1	-	2	2249	c.2074G>T	c.(2074-2076)GGG>TGG	p.G692W		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	692						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Missense_Mutation	SNP	176024762	176024762	7005	5	C	A	A	22	22	GPRIN1	A	2	2
KAAG1	353219	broad.mit.edu	37	6	24358065	24358065	+	Silent	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24358065G>A	uc003ndz.1	+	1	935	c.198G>A	c.(196-198)GCG>GCA	p.A66A	DCDC2_uc003ndx.2_5'UTR|DCDC2_uc003ndy.2_5'UTR	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	66					immune response						0																		---	---	---	---	capture		Silent	SNP	24358065	24358065	8277	6	G	A	A	39	39	KAAG1	A	1	1
TRIM38	10475	broad.mit.edu	37	6	25967109	25967109	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25967109A>T	uc003nfm.2	+	3	794	c.359A>T	c.(358-360)CAG>CTG	p.Q120L	TRIM38_uc003nfn.2_Missense_Mutation_p.Q120L	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	120	B box-type.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	25967109	25967109	17056	6	A	T	T	7	7	TRIM38	T	4	4
VARS2	57176	broad.mit.edu	37	6	30883772	30883772	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30883772G>T	uc003nsc.1	+	5	1153	c.521G>T	c.(520-522)GGG>GTG	p.G174V	VARS2_uc003nsd.2_Missense_Mutation_p.G174V|VARS2_uc011dmx.1_Missense_Mutation_p.G174V|VARS2_uc011dmy.1_Missense_Mutation_p.G34V|VARS2_uc011dmz.1_Missense_Mutation_p.G204V|VARS2_uc011dna.1_Missense_Mutation_p.G174V|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	174					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	30883772	30883772	17689	6	G	T	T	43	43	VARS2	T	2	2
BAT2	7916	broad.mit.edu	37	6	31598397	31598397	+	Missense_Mutation	SNP	G	T	T	rs3204001		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31598397G>T	uc003nvb.3	+	15	2533	c.2284G>T	c.(2284-2286)GGG>TGG	p.G762W	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.G762W	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	762	4 X 57 AA type A repeats.			G -> R (in Ref. 8; CAA78744).|G -> L (in Ref. 1; AAA35585/AAA35586).		cytoplasm|nucleus	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	31598397	31598397	1340	6	G	T	T	47	47	BAT2	T	2	2
C2	717	broad.mit.edu	37	6	31902047	31902047	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31902047A>G	uc003nyf.2	+	6	1084	c.820A>G	c.(820-822)AAG>GAG	p.K274E	C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.K274E|C2_uc010jtk.2_Missense_Mutation_p.K142E|C2_uc011doq.1_Missense_Mutation_p.K245E|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank	NM_000063	NP_000054	P06681	CO2_HUMAN	complement component 2 isoform 1 preproprotein	274	VWFA.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)|skin(1)	2		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	31902047	31902047	2150	6	A	G	G	5	5	C2	G	4	4
HLA-DMA	3108	broad.mit.edu	37	6	32918393	32918393	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32918393C>A	uc003ocm.2	-	2	362	c.276G>T	c.(274-276)CAG>CAT	p.Q92H	HLA-DMA_uc011dqm.1_Missense_Mutation_p.Q92H	NM_006120	NP_006111	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM	92						integral to membrane|MHC class II protein complex					0																		---	---	---	---	capture		Missense_Mutation	SNP	32918393	32918393	7489	6	C	A	A	24	24	HLA-DMA	A	2	2
SPDEF	25803	broad.mit.edu	37	6	34507062	34507062	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34507062T>C	uc003ojq.1	-	5	1209	c.794A>G	c.(793-795)TAT>TGT	p.Y265C	SPDEF_uc011dsq.1_Missense_Mutation_p.Y249C	NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	265	ETS.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(3)|ovary(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	34507062	34507062	15536	6	T	C	C	49	49	SPDEF	C	4	4
SCUBE3	222663	broad.mit.edu	37	6	35214015	35214015	+	Nonsense_Mutation	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35214015C>T	uc003okf.1	+	21	2791	c.2785C>T	c.(2785-2787)CGA>TGA	p.R929*	SCUBE3_uc003okg.1_Nonsense_Mutation_p.R928*|SCUBE3_uc003okh.1_Nonsense_Mutation_p.R816*	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	929					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	35214015	35214015	14429	6	C	T	T	27	27	SCUBE3	T	5	1
PI16	221476	broad.mit.edu	37	6	36931007	36931007	+	Silent	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36931007C>T	uc003ona.2	+	5	1217	c.889C>T	c.(889-891)CTG>TTG	p.L297L	PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Silent_p.L68L	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	297	Extracellular (Potential).					extracellular region|integral to membrane	peptidase inhibitor activity				0																		---	---	---	---	capture		Silent	SNP	36931007	36931007	12293	6	C	T	T	24	24	PI16	T	2	2
TREML2	79865	broad.mit.edu	37	6	41168703	41168703	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41168703C>A	uc010jxm.1	-	1	223	c.44G>T	c.(43-45)GGT>GTT	p.G15V		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	15					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---	capture		Missense_Mutation	SNP	41168703	41168703	17017	6	C	A	A	18	18	TREML2	A	2	2
TREML2	79865	broad.mit.edu	37	6	41168707	41168707	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41168707G>T	uc010jxm.1	-	1	219	c.40C>A	c.(40-42)CAG>AAG	p.Q14K		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	14					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---	capture		Missense_Mutation	SNP	41168707	41168707	17017	6	G	T	T	48	48	TREML2	T	2	2
PKHD1	5314	broad.mit.edu	37	6	51774224	51774224	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51774224G>T	uc003pah.1	-	40	6815	c.6539C>A	c.(6538-6540)TCC>TAC	p.S2180Y	PKHD1_uc010jzn.1_Missense_Mutation_p.S205Y|PKHD1_uc003pai.2_Missense_Mutation_p.S2180Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2180	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---	capture		Missense_Mutation	SNP	51774224	51774224	12396	6	G	T	T	41	41	PKHD1	T	2	2
GFRAL	389400	broad.mit.edu	37	6	55264165	55264165	+	Splice_Site	SNP	A	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:55264165A>G	uc003pcm.1	+	8	1135	c.1049_splice	c.e8-2	p.G350_splice		NM_207410	NP_997293			GDNF family receptor alpha like precursor							integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)															---	---	---	---	capture		Splice_Site	SNP	55264165	55264165	6619	6	A	G	G	15	15	GFRAL	G	5	4
IBTK	25998	broad.mit.edu	37	6	82909856	82909856	+	Splice_Site	SNP	A	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:82909856A>C	uc003pjl.1	-	21	3552	c.3025_splice	c.e21+1	p.G1009_splice	IBTK_uc011dyu.1_Splice_Site|IBTK_uc011dyv.1_Splice_Site_p.E1009_splice|IBTK_uc011dyw.1_Splice_Site_p.G808_splice|IBTK_uc010kbi.1_Splice_Site_p.G703_splice|IBTK_uc003pjm.2_Splice_Site_p.G1009_splice	NM_015525	NP_056340			inhibitor of Bruton's tyrosine kinase						negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)														---	---	---	---	capture		Splice_Site	SNP	82909856	82909856	7776	6	A	C	C	2	2	IBTK	C	5	4
PRSS35	167681	broad.mit.edu	37	6	84234230	84234230	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84234230C>A	uc003pjz.2	+	2	1233	c.1070C>A	c.(1069-1071)CCA>CAA	p.P357Q	PRSS35_uc010kbm.2_Missense_Mutation_p.P357Q	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	357	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)														---	---	---	---	capture		Missense_Mutation	SNP	84234230	84234230	13074	6	C	A	A	21	21	PRSS35	A	2	2
MDN1	23195	broad.mit.edu	37	6	90499528	90499528	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90499528C>A	uc003pnn.1	-	7	1317	c.1201G>T	c.(1201-1203)GAG>TAG	p.E401*	MDN1_uc003pnp.1_Nonsense_Mutation_p.E401*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	401					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---	capture		Nonsense_Mutation	SNP	90499528	90499528	9804	6	C	A	A	30	30	MDN1	A	5	2
BACH2	60468	broad.mit.edu	37	6	90718521	90718521	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90718521C>G	uc011eab.1	-	6	852	c.43G>C	c.(43-45)GAG>CAG	p.E15Q	BACH2_uc003pnw.2_Missense_Mutation_p.E15Q|BACH2_uc010kch.2_Missense_Mutation_p.E15Q	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	15						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---	capture		Missense_Mutation	SNP	90718521	90718521	1305	6	C	G	G	29	29	BACH2	G	3	3
C6orf204	387119	broad.mit.edu	37	6	118786592	118786592	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:118786592C>A	uc003pxz.1	-	13	2982	c.2394G>T	c.(2392-2394)ATG>ATT	p.M798I		NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	798						centrosome				breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)														---	---	---	---	capture		Missense_Mutation	SNP	118786592	118786592	2458	6	C	A	A	21	21	C6orf204	A	2	2
LAMA2	3908	broad.mit.edu	37	6	129513940	129513940	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129513940G>T	uc003qbn.2	+	12	1829	c.1724G>T	c.(1723-1725)CGG>CTG	p.R575L	LAMA2_uc003qbo.2_Missense_Mutation_p.R575L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	575	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)														---	---	---	---	capture		Missense_Mutation	SNP	129513940	129513940	8929	6	G	T	T	39	39	LAMA2	T	1	1
HIVEP2	3097	broad.mit.edu	37	6	143092007	143092007	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143092007G>T	uc003qjd.2	-	5	4612	c.3869C>A	c.(3868-3870)CCA>CAA	p.P1290Q		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)														---	---	---	---	capture		Missense_Mutation	SNP	143092007	143092007	7478	6	G	T	T	47	47	HIVEP2	T	2	2
SASH1	23328	broad.mit.edu	37	6	148865632	148865632	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148865632G>T	uc003qme.1	+	18	3501	c.3026G>T	c.(3025-3027)GGG>GTG	p.G1009V	SASH1_uc011eeb.1_Missense_Mutation_p.G770V|SASH1_uc003qmf.1_Missense_Mutation_p.G419V	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1009	Pro-rich.						protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---	capture		Missense_Mutation	SNP	148865632	148865632	14329	6	G	T	T	43	43	SASH1	T	2	2
TAB2	23118	broad.mit.edu	37	6	149700403	149700403	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149700403C>A	uc003qmj.2	+	3	1530	c.1352C>A	c.(1351-1353)CCT>CAT	p.P451H	TAB2_uc011eec.1_Missense_Mutation_p.P419H|TAB2_uc010kia.1_Missense_Mutation_p.P451H|TAB2_uc010kib.1_Missense_Mutation_p.P451H|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	451					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	149700403	149700403	16017	6	C	A	A	24	24	TAB2	A	2	2
AKAP12	9590	broad.mit.edu	37	6	151670180	151670180	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151670180C>A	uc011eep.1	+	4	894	c.654C>A	c.(652-654)CCC>CCA	p.P218P	AKAP12_uc003qoe.2_Silent_p.P218P|AKAP12_uc003qof.2_Silent_p.P120P|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.P113P	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	218					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)														---	---	---	---	capture		Silent	SNP	151670180	151670180	451	6	C	A	A	21	21	AKAP12	A	2	2
SYNJ2	8871	broad.mit.edu	37	6	158505132	158505132	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158505132C>A	uc003qqx.1	+	22	3209	c.3134C>A	c.(3133-3135)CCC>CAC	p.P1045H	SYNJ2_uc003qqw.1_Missense_Mutation_p.P1045H|SYNJ2_uc003qqy.1_Missense_Mutation_p.P758H|SYNJ2_uc003qqz.1_Missense_Mutation_p.P662H|SYNJ2_uc003qra.1_Missense_Mutation_p.P388H|SYNJ2_uc010kjp.1_5'Flank	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1045	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)														---	---	---	---	capture		Missense_Mutation	SNP	158505132	158505132	15974	6	C	A	A	22	22	SYNJ2	A	2	2
TULP4	56995	broad.mit.edu	37	6	158923027	158923027	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158923027C>A	uc003qrf.2	+	13	3689	c.2332C>A	c.(2332-2334)CCG>ACG	p.P778T	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	778					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---	capture		Missense_Mutation	SNP	158923027	158923027	17331	6	C	A	A	22	22	TULP4	A	2	2
FTSJ2	29960	broad.mit.edu	37	7	2275030	2275030	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2275030C>A	uc003slm.2	-	3	497	c.468G>T	c.(466-468)GCG>GCT	p.A156A	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_Silent_p.A2A|FTSJ2_uc003sll.2_Silent_p.A2A|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Silent_p.A2A	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	156					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)														---	---	---	---	capture		Silent	SNP	2275030	2275030	6339	7	C	A	A	27	27	FTSJ2	A	1	1
IQCE	23288	broad.mit.edu	37	7	2623912	2623912	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2623912G>T	uc003smo.3	+	11	1001	c.817G>T	c.(817-819)GGA>TGA	p.G273*	IQCE_uc010ksm.1_Nonsense_Mutation_p.G273*|IQCE_uc003sml.1_Nonsense_Mutation_p.G273*|IQCE_uc011jvy.1_Nonsense_Mutation_p.G257*|IQCE_uc011jvz.1_Nonsense_Mutation_p.G208*|IQCE_uc003smk.3_Nonsense_Mutation_p.G257*|IQCE_uc003smn.3_Nonsense_Mutation_p.G208*	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	273											0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)														---	---	---	---	capture		Nonsense_Mutation	SNP	2623912	2623912	8107	7	G	T	T	39	39	IQCE	T	5	1
COL28A1	340267	broad.mit.edu	37	7	7546760	7546760	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7546760G>T	uc003src.1	-	10	1077	c.960C>A	c.(958-960)CCC>CCA	p.P320P	COL28A1_uc011jxe.1_Missense_Mutation_p.P6Q|COL28A1_uc003srd.2_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	320	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)														---	---	---	---	capture		Silent	SNP	7546760	7546760	3824	7	G	T	T	47	47	COL28A1	T	2	2
STK31	56164	broad.mit.edu	37	7	23793980	23793980	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23793980A>C	uc003sws.3	+	10	1247	c.1180A>C	c.(1180-1182)ATA>CTA	p.I394L	STK31_uc003swt.3_Missense_Mutation_p.I371L|STK31_uc011jze.1_Missense_Mutation_p.I394L|STK31_uc010kuq.2_Missense_Mutation_p.I371L	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	394							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---	capture		Missense_Mutation	SNP	23793980	23793980	15816	7	A	C	C	16	16	STK31	C	4	4
HOXA3	3200	broad.mit.edu	37	7	27150165	27150165	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27150165G>T	uc011jzl.1	-	2	295	c.95C>A	c.(94-96)CCG>CAG	p.P32Q	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.P32Q	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	32					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	27150165	27150165	7585	7	G	T	T	39	39	HOXA3	T	1	1
HOXA7	3204	broad.mit.edu	37	7	27194745	27194745	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27194745C>A	uc003sys.2	-	2	608	c.476G>T	c.(475-477)CGC>CTC	p.R159L	HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	159	Poly-Arg.|Homeobox.				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	27194745	27194745	7589	7	C	A	A	27	27	HOXA7	A	1	1
INMT	11185	broad.mit.edu	37	7	30795294	30795294	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30795294G>T	uc003tbs.1	+	3	635	c.619G>T	c.(619-621)GGG>TGG	p.G207W	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.G206W	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	207						cytoplasm	amine N-methyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	30795294	30795294	8046	7	G	T	T	43	43	INMT	T	2	2
FAM188B	84182	broad.mit.edu	37	7	30831048	30831048	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30831048G>T	uc003tbt.2	+	5	1008	c.931G>T	c.(931-933)GAG>TAG	p.E311*	FAM188B_uc010kwe.2_Nonsense_Mutation_p.E282*	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	311											0																		---	---	---	---	capture		Nonsense_Mutation	SNP	30831048	30831048	5725	7	G	T	T	37	37	FAM188B	T	5	1
ADCYAP1R1	117	broad.mit.edu	37	7	31127246	31127246	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31127246G>T	uc003tca.1	+	12	1113	c.890G>T	c.(889-891)TGG>TTG	p.W297L	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.W276L|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.W297L|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.W297L|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.W297L|ADCYAP1R1_uc003tcf.1_5'UTR	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	297	Extracellular (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	31127246	31127246	304	7	G	T	T	47	47	ADCYAP1R1	T	2	2
ADCY1	107	broad.mit.edu	37	7	45725621	45725621	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45725621T>A	uc003tne.3	+	13	2152	c.2134T>A	c.(2134-2136)TCT>ACT	p.S712T		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	712					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---	capture		Missense_Mutation	SNP	45725621	45725621	293	7	T	A	A	58	58	ADCY1	A	4	4
BCL7B	9275	broad.mit.edu	37	7	72957879	72957879	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72957879C>A	uc003tyf.1	-	3	380	c.264G>T	c.(262-264)CAG>CAT	p.Q88H	BCL7B_uc003tye.1_RNA|BCL7B_uc003tyg.1_Missense_Mutation_p.Q88H	NM_001707	NP_001698	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	88							actin binding			ovary(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---	capture		Missense_Mutation	SNP	72957879	72957879	1400	7	C	A	A	24	24	BCL7B	A	2	2
GTF2IRD1	9569	broad.mit.edu	37	7	74016709	74016709	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:74016709G>T	uc003uaq.2	+	27	3222	c.2829G>T	c.(2827-2829)ATG>ATT	p.M943I	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.M960I|GTF2IRD1_uc003uap.2_Missense_Mutation_p.M928I|GTF2IRD1_uc003uar.1_3'UTR	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	943				Missing: Cytoplasmic localization.		nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	74016709	74016709	7148	7	G	T	T	47	47	GTF2IRD1	T	2	2
TRRAP	8295	broad.mit.edu	37	7	98527640	98527640	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98527640G>T	uc003upp.2	+	24	3413	c.3204G>T	c.(3202-3204)GTG>GTT	p.V1068V	TRRAP_uc011kis.1_Silent_p.V1068V|TRRAP_uc003upr.2_Silent_p.V760V	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1068					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---	capture		Silent	SNP	98527640	98527640	17152	7	G	T	T	47	47	TRRAP	T	2	2
TRRAP	8295	broad.mit.edu	37	7	98548596	98548596	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98548596C>A	uc003upp.2	+	38	5620	c.5411C>A	c.(5410-5412)CCA>CAA	p.P1804Q	TRRAP_uc011kis.1_Missense_Mutation_p.P1786Q|TRRAP_uc003upr.2_Missense_Mutation_p.P1503Q	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1804					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---	capture		Missense_Mutation	SNP	98548596	98548596	17152	7	C	A	A	21	21	TRRAP	A	2	2
STAG3	10734	broad.mit.edu	37	7	99809145	99809145	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99809145G>T	uc003utx.1	+	31	3653	c.3498G>T	c.(3496-3498)CTG>CTT	p.L1166L	STAG3_uc011kjk.1_Silent_p.L1108L|GATS_uc003uty.3_RNA|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Silent_p.L391L|GATS_uc011kjl.1_RNA|GATS_uc010lgu.2_RNA	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1166					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Silent	SNP	99809145	99809145	15762	7	G	T	T	47	47	STAG3	T	2	2
SRRT	51593	broad.mit.edu	37	7	100473315	100473315	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100473315G>T	uc003uwy.2	+	3	372	c.104G>T	c.(103-105)GGG>GTG	p.G35V	SRRT_uc010lhl.1_Missense_Mutation_p.G35V|SRRT_uc003uxa.2_Missense_Mutation_p.G35V|SRRT_uc003uwz.2_Missense_Mutation_p.G35V	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	35	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	100473315	100473315	15687	7	G	T	T	43	43	SRRT	T	2	2
MUC17	140453	broad.mit.edu	37	7	100680080	100680080	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100680080G>T	uc003uxp.1	+	3	5436	c.5383G>T	c.(5383-5385)GGT>TGT	p.G1795C	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1795	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|28.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---	capture		Missense_Mutation	SNP	100680080	100680080	10368	7	G	T	T	35	35	MUC17	T	2	2
MUC17	140453	broad.mit.edu	37	7	100685234	100685234	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100685234G>T	uc003uxp.1	+	3	10590	c.10537G>T	c.(10537-10539)GGT>TGT	p.G3513C	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3513	Extracellular (Potential).|Ser-rich.|57.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.G3513V(1)		ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---	capture		Missense_Mutation	SNP	100685234	100685234	10368	7	G	T	T	47	47	MUC17	T	2	2
IMPDH1	3614	broad.mit.edu	37	7	128037064	128037064	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128037064C>A	uc011kol.1	-	8	938	c.832G>T	c.(832-834)GGG>TGG	p.G278W	IMPDH1_uc011kom.1_Missense_Mutation_p.G273W|IMPDH1_uc003vmt.2_Missense_Mutation_p.G253W|IMPDH1_uc003vmu.2_Missense_Mutation_p.G363W|IMPDH1_uc003vmw.2_Missense_Mutation_p.G353W|IMPDH1_uc011kon.1_Missense_Mutation_p.G330W|IMPDH1_uc003vmv.2_Missense_Mutation_p.G327W|IMPDH1_uc003vmx.2_Missense_Mutation_p.G286W|IMPDH1_uc003vmy.2_Missense_Mutation_p.G294W	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	278					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)													---	---	---	---	capture		Missense_Mutation	SNP	128037064	128037064	8027	7	C	A	A	24	24	IMPDH1	A	2	2
NUP205	23165	broad.mit.edu	37	7	135277850	135277850	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135277850G>T	uc003vsw.2	+	12	1771	c.1740G>T	c.(1738-1740)CAG>CAT	p.Q580H		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	580					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	135277850	135277850	11164	7	G	T	T	36	36	NUP205	T	2	2
DENND2A	27147	broad.mit.edu	37	7	140273642	140273642	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140273642G>T	uc010lnj.2	-	4	1557	c.1412C>A	c.(1411-1413)CCA>CAA	p.P471Q	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.P471Q|DENND2A_uc003vvw.2_Missense_Mutation_p.P471Q|DENND2A_uc003vvx.2_Missense_Mutation_p.P471Q	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	471										ovary(3)|breast(1)	4	Melanoma(164;0.00956)																	---	---	---	---	capture		Missense_Mutation	SNP	140273642	140273642	4608	7	G	T	T	47	47	DENND2A	T	2	2
TMEM139	135932	broad.mit.edu	37	7	142983246	142983246	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142983246C>A	uc010lov.2	+	3	335	c.196C>A	c.(196-198)CAG>AAG	p.Q66K	CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|TMEM139_uc003wck.3_Missense_Mutation_p.Q66K|TMEM139_uc003wcl.2_Missense_Mutation_p.Q66K|TMEM139_uc003wcm.2_Missense_Mutation_p.Q66K|TMEM139_uc003wcn.2_Intron	NM_153345	NP_699176	Q8IV31	TM139_HUMAN	transmembrane protein 139 precursor	66	Cytoplasmic (Potential).					integral to membrane					0	Melanoma(164;0.059)																	---	---	---	---	capture		Missense_Mutation	SNP	142983246	142983246	16586	7	C	A	A	21	21	TMEM139	A	2	2
CNTNAP2	26047	broad.mit.edu	37	7	146805264	146805264	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:146805264C>A	uc003weu.1	+	5	1092	c.576C>A	c.(574-576)GGC>GGA	p.G192G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	192	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---	capture		Silent	SNP	146805264	146805264	3785	7	C	A	A	26	26	CNTNAP2	A	2	2
GIMAP6	474344	broad.mit.edu	37	7	150325574	150325574	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150325574G>T	uc003whn.2	-	3	536	c.112C>A	c.(112-114)CCA>ACA	p.P38T	GIMAP6_uc003whm.2_Intron	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	38							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	150325574	150325574	6651	7	G	T	T	43	43	GIMAP6	T	2	2
ACCN3	9311	broad.mit.edu	37	7	150749273	150749273	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150749273G>T	uc003win.2	+	9	1775	c.1407G>T	c.(1405-1407)CTG>CTT	p.L469L	ACCN3_uc003wio.2_Silent_p.L469L|ACCN3_uc003wip.2_Silent_p.L469L|ACCN3_uc003wiq.2_RNA	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a	469	Cytoplasmic (Potential).				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Silent	SNP	150749273	150749273	131	7	G	T	T	47	47	ACCN3	T	2	2
INTS9	55756	broad.mit.edu	37	8	28651468	28651468	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28651468G>T	uc003xha.2	-	10	1192	c.893C>A	c.(892-894)CCC>CAC	p.P298H	INTS9_uc011lav.1_Missense_Mutation_p.P274H|INTS9_uc011law.1_Missense_Mutation_p.P277H|INTS9_uc011lax.1_Missense_Mutation_p.P191H|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.P298H	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	298					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)														---	---	---	---	capture		Missense_Mutation	SNP	28651468	28651468	8086	8	G	T	T	43	43	INTS9	T	2	2
ANK1	286	broad.mit.edu	37	8	41561576	41561576	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41561576G>T	uc003xok.2	-	20	2362	c.2278C>A	c.(2278-2280)CCA>ACA	p.P760T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.P68T|ANK1_uc003xoi.2_Missense_Mutation_p.P760T|ANK1_uc003xoj.2_Missense_Mutation_p.P760T|ANK1_uc003xol.2_Missense_Mutation_p.P760T|ANK1_uc003xom.2_Missense_Mutation_p.P793T	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	760	ANK 22.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---	capture		Missense_Mutation	SNP	41561576	41561576	623	8	G	T	T	43	43	ANK1	T	2	2
RB1CC1	9821	broad.mit.edu	37	8	53573532	53573532	+	Silent	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53573532T>C	uc003xre.3	-	11	2139	c.1581A>G	c.(1579-1581)TTA>TTG	p.L527L	RB1CC1_uc003xrf.3_Silent_p.L527L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	527					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)																---	---	---	---	capture		Silent	SNP	53573532	53573532	13560	8	T	C	C	49	49	RB1CC1	C	4	4
RB1CC1	9821	broad.mit.edu	37	8	53573823	53573823	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53573823C>G	uc003xre.3	-	10	1935	c.1377G>C	c.(1375-1377)ATG>ATC	p.M459I	RB1CC1_uc003xrf.3_Missense_Mutation_p.M459I	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	459					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)																---	---	---	---	capture		Missense_Mutation	SNP	53573823	53573823	13560	8	C	G	G	25	25	RB1CC1	G	3	3
ARFGEF1	10565	broad.mit.edu	37	8	68204208	68204208	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68204208C>A	uc003xxo.1	-	6	1180	c.790G>T	c.(790-792)GAC>TAC	p.D264Y		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	264					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	68204208	68204208	863	8	C	A	A	30	30	ARFGEF1	A	2	2
CRISPLD1	83690	broad.mit.edu	37	8	75941732	75941732	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:75941732G>T	uc003yan.2	+	14	1806	c.1431G>T	c.(1429-1431)CAG>CAT	p.Q477H	CRISPLD1_uc011lfk.1_Missense_Mutation_p.Q289H|CRISPLD1_uc011lfl.1_Missense_Mutation_p.Q289H	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	477	LCCL 2.					extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---	capture		Missense_Mutation	SNP	75941732	75941732	4021	8	G	T	T	33	33	CRISPLD1	T	2	2
ZFHX4	79776	broad.mit.edu	37	8	77766784	77766784	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77766784A>C	uc003yav.2	+	10	7879	c.7492A>C	c.(7492-7494)AAC>CAC	p.N2498H	ZFHX4_uc003yau.1_Missense_Mutation_p.N2543H|ZFHX4_uc003yaw.1_Missense_Mutation_p.N2498H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2498						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	77766784	77766784	18223	8	A	C	C	5	5	ZFHX4	C	4	4
PEX2	5828	broad.mit.edu	37	8	77895842	77895842	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77895842C>A	uc003yax.2	-	4	1031	c.573G>T	c.(571-573)ATG>ATT	p.M191I	PEX2_uc003yay.2_Missense_Mutation_p.M191I|PEX2_uc003yaz.2_Missense_Mutation_p.M191I	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	191					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	77895842	77895842	12167	8	C	A	A	29	29	PEX2	A	2	2
CDH17	1015	broad.mit.edu	37	8	95186160	95186160	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95186160C>A	uc003ygh.2	-	7	773	c.648G>T	c.(646-648)ATG>ATT	p.M216I	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.M216I	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	216	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)															---	---	---	---	capture		Missense_Mutation	SNP	95186160	95186160	3231	8	C	A	A	21	21	CDH17	A	2	2
RPL30	6156	broad.mit.edu	37	8	99057265	99057265	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99057265C>A	uc003yif.2	-	3	143	c.73G>T	c.(73-75)GGG>TGG	p.G25W	RPL30_uc010mbk.1_Missense_Mutation_p.G25W|SNORA72_uc003yig.1_5'Flank	NM_000989	NP_000980	P62888	RL30_HUMAN	ribosomal protein L30	25					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)															---	---	---	---	capture		Missense_Mutation	SNP	99057265	99057265	14059	8	C	A	A	21	21	RPL30	A	2	2
UBR5	51366	broad.mit.edu	37	8	103301779	103301779	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103301779T>C	uc003ykr.1	-	35	4648	c.4615A>G	c.(4615-4617)ATC>GTC	p.I1539V	UBR5_uc003yks.1_Missense_Mutation_p.I1539V	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1539					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)															---	---	---	---	capture		Missense_Mutation	SNP	103301779	103301779	17463	8	T	C	C	51	51	UBR5	C	4	4
SLC30A8	169026	broad.mit.edu	37	8	118184797	118184797	+	Silent	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:118184797G>A	uc003yoh.2	+	8	1217	c.987G>A	c.(985-987)GTG>GTA	p.V329V	SLC30A8_uc010mcz.2_Silent_p.V280V|SLC30A8_uc011lia.1_Silent_p.V280V|SLC30A8_uc003yog.2_Silent_p.V280V	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	329	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)															---	---	---	---	capture		Silent	SNP	118184797	118184797	15058	8	G	A	A	47	47	SLC30A8	A	2	2
FAM135B	51059	broad.mit.edu	37	8	139190841	139190841	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139190841C>A	uc003yuy.2	-	10	1137	c.966G>T	c.(964-966)CTG>CTT	p.L322L	FAM135B_uc003yux.2_Silent_p.L223L|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	322										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---	capture		Silent	SNP	139190841	139190841	5646	8	C	A	A	21	21	FAM135B	A	2	2
COL22A1	169044	broad.mit.edu	37	8	139606266	139606266	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139606266G>T	uc003yvd.2	-	63	5056	c.4609C>A	c.(4609-4611)CCC>ACC	p.P1537T	COL22A1_uc011ljo.1_Missense_Mutation_p.P817T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1537	Pro-rich.|Gly-rich.|Collagen-like 15.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)												HNSCC(7;0.00092)			---	---	---	---	capture		Missense_Mutation	SNP	139606266	139606266	3819	8	G	T	T	41	41	COL22A1	T	2	2
COL22A1	169044	broad.mit.edu	37	8	139635986	139635986	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139635986G>T	uc003yvd.2	-	52	4207	c.3760C>A	c.(3760-3762)CCT>ACT	p.P1254T	COL22A1_uc011ljo.1_Missense_Mutation_p.P534T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1254	Pro-rich.|Gly-rich.|Collagen-like 12.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)												HNSCC(7;0.00092)			---	---	---	---	capture		Missense_Mutation	SNP	139635986	139635986	3819	8	G	T	T	43	43	COL22A1	T	2	2
MPDZ	8777	broad.mit.edu	37	9	13176150	13176150	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13176150G>T	uc010mia.1	-	19	2973	c.2916C>A	c.(2914-2916)CCC>CCA	p.P972P	MPDZ_uc003zkz.3_5'Flank|MPDZ_uc010mhy.2_Silent_p.P972P|MPDZ_uc010mhz.2_Silent_p.P972P|MPDZ_uc011lmn.1_Silent_p.P972P|MPDZ_uc003zlb.3_Silent_p.P972P	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	972					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)														---	---	---	---	capture		Silent	SNP	13176150	13176150	10114	9	G	T	T	39	39	MPDZ	T	1	1
FAM154A	158297	broad.mit.edu	37	9	18928305	18928305	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18928305C>A	uc003zni.1	-	4	1448	c.1170G>T	c.(1168-1170)AAG>AAT	p.K390N	FAM154A_uc010mip.1_Missense_Mutation_p.K198N	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	390										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)														---	---	---	---	capture		Missense_Mutation	SNP	18928305	18928305	5661	9	C	A	A	28	28	FAM154A	A	2	2
IFNA16	3449	broad.mit.edu	37	9	21217192	21217192	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21217192A>G	uc003zor.1	-	1	119	c.113T>C	c.(112-114)TTG>TCG	p.L38S	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	interferon, alpha 16 precursor	38					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			skin(1)	1				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)														---	---	---	---	capture		Missense_Mutation	SNP	21217192	21217192	7836	9	A	G	G	5	5	IFNA16	G	4	4
C9orf131	138724	broad.mit.edu	37	9	35045095	35045095	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35045095G>T	uc003zvw.2	+	2	2498	c.2469G>T	c.(2467-2469)TGG>TGT	p.W823C	C9orf131_uc003zvu.2_Missense_Mutation_p.W775C|C9orf131_uc003zvv.2_Missense_Mutation_p.W750C|C9orf131_uc003zvx.2_Missense_Mutation_p.W788C	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	823											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)															---	---	---	---	capture		Missense_Mutation	SNP	35045095	35045095	2570	9	G	T	T	43	43	C9orf131	T	2	2
C9orf129	445577	broad.mit.edu	37	9	96080747	96080747	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96080747G>T	uc010mre.2	-	5	888	c.524C>A	c.(523-525)CCT>CAT	p.P175H	WNK2_uc011lud.1_3'UTR|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_3'UTR	NM_001098808	NP_001092278	Q5T035	CI129_HUMAN	hypothetical protein LOC445577	175										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	96080747	96080747	2569	9	G	T	T	35	35	C9orf129	T	2	2
ZNF782	158431	broad.mit.edu	37	9	99580443	99580443	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99580443T>C	uc004awp.1	-	6	2143	c.1862A>G	c.(1861-1863)AAT>AGT	p.N621S	ZNF782_uc011lup.1_Missense_Mutation_p.N489S	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	621	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---	capture		Missense_Mutation	SNP	99580443	99580443	18753	9	T	C	C	52	52	ZNF782	C	4	4
BAAT	570	broad.mit.edu	37	9	104124815	104124815	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104124815C>A	uc010mtd.2	-	4	1261	c.1152G>T	c.(1150-1152)TGG>TGT	p.W384C	BAAT_uc004bbd.3_Missense_Mutation_p.W384C	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	384					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)													---	---	---	---	capture		Missense_Mutation	SNP	104124815	104124815	1301	9	C	A	A	22	22	BAAT	A	2	2
PPP3R2	5535	broad.mit.edu	37	9	104356972	104356972	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104356972C>A	uc004bbr.2	-	1	312	c.241G>T	c.(241-243)GGG>TGG	p.G81W	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	78	EF-hand 2.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)													---	---	---	---	capture		Missense_Mutation	SNP	104356972	104356972	12837	9	C	A	A	22	22	PPP3R2	A	2	2
TMEM38B	55151	broad.mit.edu	37	9	108467943	108467943	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108467943G>T	uc004bcu.1	+	2	295	c.178G>T	c.(178-180)GGT>TGT	p.G60C	TMEM38B_uc010mtn.1_Missense_Mutation_p.G60C	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	60	Helical; (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	108467943	108467943	16699	9	G	T	T	47	47	TMEM38B	T	2	2
TRIM32	22954	broad.mit.edu	37	9	119461288	119461288	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119461288G>T	uc004bjx.2	+	2	1425	c.1267G>T	c.(1267-1269)GGG>TGG	p.G423W	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.G423W	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	423	NHL 2.				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3														Bardet-Biedl_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	119461288	119461288	17050	9	G	T	T	47	47	TRIM32	T	2	2
GARNL3	84253	broad.mit.edu	37	9	130117712	130117712	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130117712C>A	uc011mae.1	+	20	2297	c.1896C>A	c.(1894-1896)CCC>CCA	p.P632P	GARNL3_uc011mad.1_Silent_p.P610P|GARNL3_uc010mxi.2_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	632	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	130117712	130117712	6505	9	C	A	A	22	22	GARNL3	A	2	2
ZNF79	7633	broad.mit.edu	37	9	130206392	130206392	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130206392G>T	uc004bqw.3	+	5	827	c.413G>T	c.(412-414)GGG>GTG	p.G138V	ZNF79_uc011maf.1_Missense_Mutation_p.G114V|ZNF79_uc011mag.1_Missense_Mutation_p.G114V	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	130206392	130206392	18759	9	G	T	T	43	43	ZNF79	T	2	2
GYG2	8908	broad.mit.edu	37	X	2795308	2795308	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2795308C>A	uc004cqs.1	+	11	1586	c.1304C>A	c.(1303-1305)GCT>GAT	p.A435D	GYG2_uc004cqt.1_Missense_Mutation_p.A404D|GYG2_uc004cqu.1_Missense_Mutation_p.A403D|GYG2_uc004cqv.1_Intron|GYG2_uc004cqw.1_Missense_Mutation_p.A395D|GYG2_uc004cqx.1_Intron|GYG2_uc010ndc.1_Intron	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	435					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---	capture		Missense_Mutation	SNP	2795308	2795308	7186	23	C	A	A	28	28	GYG2	A	2	2
NLGN4X	57502	broad.mit.edu	37	X	5821666	5821666	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5821666G>T	uc010ndh.2	-	5	1554	c.1053C>A	c.(1051-1053)GAC>GAA	p.D351E	NLGN4X_uc004crp.2_Missense_Mutation_p.D371E|NLGN4X_uc004crq.2_Missense_Mutation_p.D351E|NLGN4X_uc010ndi.2_Missense_Mutation_p.D388E|NLGN4X_uc004crr.2_Missense_Mutation_p.D351E|NLGN4X_uc010ndj.2_Missense_Mutation_p.D351E	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	351	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	5821666	5821666	10867	23	G	T	T	40	40	NLGN4X	T	1	1
GLRA2	2742	broad.mit.edu	37	X	14550448	14550448	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14550448G>T	uc010nep.2	+	3	488	c.156G>T	c.(154-156)ATG>ATT	p.M52I	GLRA2_uc010neq.2_Missense_Mutation_p.M52I|GLRA2_uc004cwe.3_Missense_Mutation_p.M52I|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.M30I	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	52	Extracellular (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)													---	---	---	---	capture		Missense_Mutation	SNP	14550448	14550448	6723	23	G	T	T	47	47	GLRA2	T	2	2
NHS	4810	broad.mit.edu	37	X	17743832	17743832	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17743832G>T	uc004cxx.2	+	6	1881	c.1543G>T	c.(1543-1545)GGT>TGT	p.G515C	NHS_uc011mix.1_Missense_Mutation_p.G536C|NHS_uc004cxy.2_Missense_Mutation_p.G359C|NHS_uc004cxz.2_Missense_Mutation_p.G338C|NHS_uc004cya.2_Missense_Mutation_p.G238C	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	515						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)																	---	---	---	---	capture		Missense_Mutation	SNP	17743832	17743832	10811	23	G	T	T	43	43	NHS	T	2	2
PHKA2	5256	broad.mit.edu	37	X	18949818	18949818	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18949818C>A	uc004cyv.3	-	12	1616	c.1186G>T	c.(1186-1188)GGG>TGG	p.G396W		NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	396					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)															OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	18949818	18949818	12268	23	C	A	A	22	22	PHKA2	A	2	2
GPR64	10149	broad.mit.edu	37	X	19013118	19013118	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19013118T>A	uc004cyx.2	-	28	2929	c.2765A>T	c.(2764-2766)CAA>CTA	p.Q922L	GPR64_uc004cyy.2_Missense_Mutation_p.Q919L|GPR64_uc004cyz.2_Missense_Mutation_p.Q908L|GPR64_uc004czb.2_Intron|GPR64_uc004czc.2_Missense_Mutation_p.Q906L|GPR64_uc004czd.2_Missense_Mutation_p.Q898L|GPR64_uc004cze.2_Missense_Mutation_p.Q892L|GPR64_uc004czf.2_Missense_Mutation_p.Q884L|GPR64_uc004cza.2_Missense_Mutation_p.Q900L|GPR64_uc004cyw.2_Intron|GPR64_uc010nfj.2_Missense_Mutation_p.Q803L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	922	Cytoplasmic (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)																	---	---	---	---	capture		Missense_Mutation	SNP	19013118	19013118	6980	23	T	A	A	63	63	GPR64	A	4	4
GPR64	10149	broad.mit.edu	37	X	19018072	19018072	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19018072G>T	uc004cyx.2	-	25	2401	c.2237C>A	c.(2236-2238)CCA>CAA	p.P746Q	GPR64_uc004cyy.2_Missense_Mutation_p.P743Q|GPR64_uc004cyz.2_Missense_Mutation_p.P732Q|GPR64_uc004czb.2_Missense_Mutation_p.P746Q|GPR64_uc004czc.2_Missense_Mutation_p.P730Q|GPR64_uc004czd.2_Missense_Mutation_p.P722Q|GPR64_uc004cze.2_Missense_Mutation_p.P716Q|GPR64_uc004czf.2_Missense_Mutation_p.P708Q|GPR64_uc004cza.2_Missense_Mutation_p.P724Q|GPR64_uc004cyw.2_Missense_Mutation_p.P730Q|GPR64_uc010nfj.2_Missense_Mutation_p.P627Q	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	746	Helical; Name=4; (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)																	---	---	---	---	capture		Missense_Mutation	SNP	19018072	19018072	6980	23	G	T	T	47	47	GPR64	T	2	2
PDHA1	5160	broad.mit.edu	37	X	19373469	19373469	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19373469C>A	uc004czg.3	+	7	751	c.606C>A	c.(604-606)GGC>GGA	p.G202G	PDHA1_uc004czh.3_Silent_p.G237G|PDHA1_uc011mjc.1_Silent_p.G206G|PDHA1_uc011mjd.1_Silent_p.G168G|PDHA1_uc010nfk.2_Silent_p.G199G|PDHA1_uc010nfl.2_5'UTR	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase E1 alpha 1 precursor	202					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)													---	---	---	---	capture		Silent	SNP	19373469	19373469	12085	23	C	A	A	26	26	PDHA1	A	2	2
SMS	6611	broad.mit.edu	37	X	21995346	21995346	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21995346G>T	uc004dag.2	+	5	598	c.497G>T	c.(496-498)GGG>GTG	p.G166V	SMS_uc011mjq.1_Missense_Mutation_p.G70V|SMS_uc004daf.1_Missense_Mutation_p.G113V|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	166					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)													---	---	---	---	capture		Missense_Mutation	SNP	21995346	21995346	15313	23	G	T	T	43	43	SMS	T	2	2
FAM48B2	170067	broad.mit.edu	37	X	24330493	24330493	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24330493C>A	uc011mjw.1	-	1	940	c.940G>T	c.(940-942)GGG>TGG	p.G314W		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	314											0																		---	---	---	---	capture		Missense_Mutation	SNP	24330493	24330493	5796	23	C	A	A	24	24	FAM48B2	A	2	2
MAGEB6	158809	broad.mit.edu	37	X	26212906	26212906	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26212906G>T	uc004dbr.2	+	2	1092	c.943G>T	c.(943-945)GGG>TGG	p.G315W	MAGEB6_uc010ngc.1_Missense_Mutation_p.G95W	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	315	MAGE.									ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	26212906	26212906	9560	23	G	T	T	43	43	MAGEB6	T	2	2
TAB3	257397	broad.mit.edu	37	X	30873249	30873249	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30873249G>T	uc004dcj.2	-	6	1196	c.533C>A	c.(532-534)CCA>CAA	p.P178Q	TAB3_uc004dck.2_Missense_Mutation_p.P178Q|TAB3_uc010ngl.2_Missense_Mutation_p.P178Q	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	178	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	30873249	30873249	16018	23	G	T	T	47	47	TAB3	T	2	2
USP9X	8239	broad.mit.edu	37	X	40994071	40994071	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40994071G>T	uc004dfb.2	+	5	1049	c.416G>T	c.(415-417)GGC>GTC	p.G139V	USP9X_uc004dfc.2_Missense_Mutation_p.G139V	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	139					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	40994071	40994071	17654	23	G	T	T	42	42	USP9X	T	2	2
WAS	7454	broad.mit.edu	37	X	48545326	48545326	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48545326G>T	uc004dkm.3	+	7	773	c.716G>T	c.(715-717)GGT>GTT	p.G239V		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	239	CRIB.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)						Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	48545326	48545326	17823	23	G	T	T	44	44	WAS	T	2	2
AKAP4	8852	broad.mit.edu	37	X	49958015	49958015	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49958015G>T	uc004dow.1	-	5	1473	c.1349C>A	c.(1348-1350)TCT>TAT	p.S450Y	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.S272Y|AKAP4_uc004dou.1_Missense_Mutation_p.S441Y	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	450					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)																	---	---	---	---	capture		Missense_Mutation	SNP	49958015	49958015	456	23	G	T	T	33	33	AKAP4	T	2	2
SHROOM4	57477	broad.mit.edu	37	X	50351144	50351144	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50351144G>T	uc004dpe.2	-	6	3024	c.2998C>A	c.(2998-3000)CCT>ACT	p.P1000T	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1000					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)																	---	---	---	---	capture		Missense_Mutation	SNP	50351144	50351144	14791	23	G	T	T	43	43	SHROOM4	T	2	2
HUWE1	10075	broad.mit.edu	37	X	53610791	53610791	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53610791G>T	uc004dsp.2	-	42	5649	c.5247C>A	c.(5245-5247)GGC>GGA	p.G1749G	HUWE1_uc004dsn.2_Silent_p.G574G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	1749					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17																		---	---	---	---	capture		Silent	SNP	53610791	53610791	7761	23	G	T	T	34	34	HUWE1	T	2	2
KLF8	11279	broad.mit.edu	37	X	56296637	56296637	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:56296637C>A	uc004dur.2	+	5	1727	c.781C>A	c.(781-783)CAG>AAG	p.Q261K	KLF8_uc011mop.1_Intron|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	56296637	56296637	8664	23	C	A	A	25	25	KLF8	A	2	2
MSN	4478	broad.mit.edu	37	X	64957195	64957195	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64957195C>G	uc004dwf.2	+	10	1444	c.1246C>G	c.(1246-1248)CAG>GAG	p.Q416E		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	416					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10								T	ALK	ALCL								---	---	---	---	capture		Missense_Mutation	SNP	64957195	64957195	10278	23	C	G	G	17	17	MSN	G	3	3
KIF4A	24137	broad.mit.edu	37	X	69510564	69510564	+	Silent	SNP	C	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69510564C>G	uc004dyg.2	+	3	271	c.144C>G	c.(142-144)TCC>TCG	p.S48S	KIF4A_uc010nkw.2_Silent_p.S48S|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.1_Silent_p.S48S	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	48	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4																		---	---	---	---	capture		Silent	SNP	69510564	69510564	8614	23	C	G	G	24	24	KIF4A	G	3	3
MED12	9968	broad.mit.edu	37	X	70339613	70339613	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70339613C>A	uc004dyy.2	+	3	481	c.282C>A	c.(280-282)CCC>CCA	p.P94P	MED12_uc011mpq.1_Silent_p.P94P|MED12_uc004dyz.2_Silent_p.P94P|MED12_uc004dza.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	94					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)																	---	---	---	---	capture		Silent	SNP	70339613	70339613	9817	23	C	A	A	22	22	MED12	A	2	2
MAGEE2	139599	broad.mit.edu	37	X	75003990	75003990	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75003990C>A	uc004ecj.1	-	1	1082	c.897G>T	c.(895-897)CTG>CTT	p.L299L		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	299										ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	75003990	75003990	9569	23	C	A	A	29	29	MAGEE2	A	2	2
BRWD3	254065	broad.mit.edu	37	X	79999630	79999630	+	Silent	SNP	A	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79999630A>G	uc004edt.2	-	8	977	c.714T>C	c.(712-714)GCT>GCC	p.A238A	BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Silent_p.A67A|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	238	WD 3.									ovary(4)	4																		---	---	---	---	capture		Silent	SNP	79999630	79999630	1557	23	A	G	G	7	7	BRWD3	G	4	4
ZNF711	7552	broad.mit.edu	37	X	84502603	84502603	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84502603G>T	uc004eeo.2	+	3	372	c.25G>T	c.(25-27)GGA>TGA	p.G9*	ZNF711_uc004eep.2_Nonsense_Mutation_p.G9*|ZNF711_uc004eeq.2_Nonsense_Mutation_p.G9*	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	9					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	84502603	84502603	18712	23	G	T	T	47	47	ZNF711	T	5	2
CHM	1121	broad.mit.edu	37	X	85218784	85218784	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:85218784C>A	uc004eet.2	-	5	618	c.588G>T	c.(586-588)ATG>ATT	p.M196I	CHM_uc011mqz.1_Missense_Mutation_p.M48I	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	196					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)																---	---	---	---	capture		Missense_Mutation	SNP	85218784	85218784	3484	23	C	A	A	29	29	CHM	A	2	2
TGIF2LX	90316	broad.mit.edu	37	X	89177414	89177414	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:89177414G>T	uc004efe.2	+	2	379	c.330G>T	c.(328-330)CCG>CCT	p.P110P		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	110	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	89177414	89177414	16355	23	G	T	T	39	39	TGIF2LX	T	1	1
SYTL4	94121	broad.mit.edu	37	X	99955935	99955935	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99955935C>A	uc004egd.3	-	7	853	c.497G>T	c.(496-498)TGG>TTG	p.W166L	SYTL4_uc010nnc.2_Missense_Mutation_p.W166L|SYTL4_uc004ege.3_Missense_Mutation_p.W166L|SYTL4_uc004egf.3_Missense_Mutation_p.W166L|SYTL4_uc004egg.3_Missense_Mutation_p.W166L	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	166					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	capture		Missense_Mutation	SNP	99955935	99955935	16006	23	C	A	A	21	21	SYTL4	A	2	2
SERPINA7	6906	broad.mit.edu	37	X	105280734	105280734	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105280734C>G	uc004eme.1	-	1	332	c.316G>C	c.(316-318)GTA>CTA	p.V106L	SERPINA7_uc010npd.2_Missense_Mutation_p.V106L|SERPINA7_uc010npe.1_Missense_Mutation_p.V106L	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	106					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---	capture		Missense_Mutation	SNP	105280734	105280734	14582	23	C	G	G	18	18	SERPINA7	G	3	3
ACSL4	2182	broad.mit.edu	37	X	108926550	108926550	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:108926550C>A	uc004eoi.2	-	4	671	c.166G>T	c.(166-168)GGA>TGA	p.G56*	ACSL4_uc004eoj.2_Nonsense_Mutation_p.G15*|ACSL4_uc004eok.2_Nonsense_Mutation_p.G15*|ACSL4_uc010npp.1_Nonsense_Mutation_p.G56*	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	56	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)													---	---	---	---	capture		Nonsense_Mutation	SNP	108926550	108926550	180	23	C	A	A	21	21	ACSL4	A	5	2
ODZ1	10178	broad.mit.edu	37	X	123554415	123554415	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123554415G>T	uc004euj.2	-	24	4771	c.4707C>A	c.(4705-4707)ACC>ACA	p.T1569T	ODZ1_uc011muj.1_Silent_p.T1575T|ODZ1_uc010nqy.2_Silent_p.T1576T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1569	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---	capture		Silent	SNP	123554415	123554415	11239	23	G	T	T	35	35	ODZ1	T	2	2
OCRL	4952	broad.mit.edu	37	X	128724198	128724198	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128724198G>C	uc004euq.2	+	24	2822	c.2657G>C	c.(2656-2658)CGT>CCT	p.R886P	OCRL_uc004eur.2_Missense_Mutation_p.R878P|OCRL_uc010nrb.2_RNA	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	886	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	128724198	128724198	11228	23	G	C	C	40	40	OCRL	C	3	3
ZDHHC9	51114	broad.mit.edu	37	X	128957775	128957775	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128957775G>T	uc004euv.2	-	4	736	c.367C>A	c.(367-369)CCG>ACG	p.P123T	ZDHHC9_uc004euw.2_Missense_Mutation_p.P123T|ZDHHC9_uc004eux.1_Missense_Mutation_p.P123T|ZDHHC9_uc004euy.1_Missense_Mutation_p.P50T	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	123	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	128957775	128957775	18210	23	G	T	T	44	44	ZDHHC9	T	2	2
IGSF1	3547	broad.mit.edu	37	X	130419285	130419285	+	Missense_Mutation	SNP	C	A	A	rs34885487		TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130419285C>A	uc004ewd.2	-	5	773	c.535G>T	c.(535-537)GGG>TGG	p.G179W	IGSF1_uc004ewe.3_Missense_Mutation_p.G168W|IGSF1_uc004ewf.2_Missense_Mutation_p.G159W|IGSF1_uc004ewg.2_Missense_Mutation_p.G179W	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	179	Ig-like C2-type 2.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	130419285	130419285	7897	23	C	A	A	21	21	IGSF1	A	2	2
GPC4	2239	broad.mit.edu	37	X	132440118	132440118	+	Silent	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132440118G>T	uc004exc.1	-	5	1154	c.942C>A	c.(940-942)CCC>CCA	p.P314P	GPC4_uc011mvg.1_Silent_p.P244P	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	314					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Silent	SNP	132440118	132440118	6874	23	G	T	T	47	47	GPC4	T	2	2
MAP7D3	79649	broad.mit.edu	37	X	135314149	135314149	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135314149G>T	uc004ezt.2	-	8	1058	c.967C>A	c.(967-969)CCC>ACC	p.P323T	MAP7D3_uc004ezs.2_Missense_Mutation_p.P287T|MAP7D3_uc011mwc.1_Missense_Mutation_p.P305T|MAP7D3_uc010nsa.1_Missense_Mutation_p.P281T	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	323						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	SNP	135314149	135314149	9652	23	G	T	T	43	43	MAP7D3	T	2	2
MAGEC1	9947	broad.mit.edu	37	X	140995469	140995469	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140995469C>A	uc004fbt.2	+	4	2565	c.2279C>A	c.(2278-2280)CCT>CAT	p.P760H	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	760							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---	capture		Missense_Mutation	SNP	140995469	140995469	9561	23	C	A	A	24	24	MAGEC1	A	2	2
AFF2	2334	broad.mit.edu	37	X	148037578	148037578	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148037578G>C	uc004fcp.2	+	11	2482	c.2003G>C	c.(2002-2004)AGA>ACA	p.R668T	AFF2_uc004fcq.2_Missense_Mutation_p.R658T|AFF2_uc004fcr.2_Missense_Mutation_p.R629T|AFF2_uc011mxb.1_Missense_Mutation_p.R633T|AFF2_uc004fcs.2_Missense_Mutation_p.R635T|AFF2_uc011mxc.1_Missense_Mutation_p.R309T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	668					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	148037578	148037578	358	23	G	C	C	33	33	AFF2	C	3	3
MAMLD1	10046	broad.mit.edu	37	X	149638823	149638823	+	Silent	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149638823C>A	uc004fee.1	+	3	1054	c.978C>A	c.(976-978)CCC>CCA	p.P326P	MAMLD1_uc011mxt.1_Silent_p.P288P|MAMLD1_uc011mxu.1_Silent_p.P301P|MAMLD1_uc011mxv.1_Silent_p.P301P|MAMLD1_uc011mxw.1_Silent_p.P253P	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	326					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Silent	SNP	149638823	149638823	9591	23	C	A	A	21	21	MAMLD1	A	2	2
MTM1	4534	broad.mit.edu	37	X	149814185	149814185	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149814185G>T	uc004fef.3	+	9	784	c.708G>T	c.(706-708)AAG>AAT	p.K236N	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.K199N|MTM1_uc011mxz.1_Missense_Mutation_p.K121N|MTM1_uc010nte.2_Missense_Mutation_p.K104N	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	236	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	149814185	149814185	10330	23	G	T	T	33	33	MTM1	T	2	2
GPR50	9248	broad.mit.edu	37	X	150345263	150345263	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150345263C>A	uc010ntg.1	+	1	205	c.70C>A	c.(70-72)CCA>ACA	p.P24T	uc004fes.1_Intron|GPR50_uc011myc.1_Missense_Mutation_p.P24T	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	24	Extracellular (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	150345263	150345263	6972	23	C	A	A	22	22	GPR50	A	2	2
CNGA2	1260	broad.mit.edu	37	X	150911903	150911903	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150911903C>A	uc004fey.1	+	7	1152	c.928C>A	c.(928-930)CCA>ACA	p.P310T		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	310	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	150911903	150911903	3735	23	C	A	A	22	22	CNGA2	A	2	2
CNGA2	1260	broad.mit.edu	37	X	150912080	150912080	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150912080G>T	uc004fey.1	+	7	1329	c.1105G>T	c.(1105-1107)GGA>TGA	p.G369*		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	369	Helical; Name=H5; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Nonsense_Mutation	SNP	150912080	150912080	3735	23	G	T	T	43	43	CNGA2	T	5	2
MAGEA6	4105	broad.mit.edu	37	X	151870096	151870096	+	Silent	SNP	C	T	T			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151870096C>T	uc004ffq.1	+	3	980	c.786C>T	c.(784-786)CCC>CCT	p.P262P	MAGEA6_uc004ffr.1_Silent_p.P262P|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	262	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Silent	SNP	151870096	151870096	9549	23	C	T	T	23	23	MAGEA6	T	1	1
PLXNA3	55558	broad.mit.edu	37	X	153689015	153689015	+	Silent	SNP	G	A	A			TCGA-66-2734-01	TCGA-66-2734-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153689015G>A	uc004flm.2	+	2	665	c.492G>A	c.(490-492)AAG>AAA	p.K164K		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	164	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---	capture		Silent	SNP	153689015	153689015	12547	23	G	A	A	34	34	PLXNA3	A	2	2
