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
RERE	473	broad.mit.edu	37	1	8858758	8858758	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8858758delT	uc001ape.2	-						RERE_uc001apf.2_Intron	NM_012102	NP_036234			atrophin-1 like protein isoform a						multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
C1QA	712	broad.mit.edu	37	1	22964234	22964234	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22964234delG	uc001bfy.2	+	2	210	c.125delG	c.(124-126)CGGfs	p.R42fs	C1QA_uc001bfz.2_Frame_Shift_Del_p.R42fs	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	42	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
TCEB3	6924	broad.mit.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24078404delA	uc001bho.2	+	4	1447	c.1387delA	c.(1387-1389)AAAfs	p.K463fs		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	463					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)												OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SRRM1	10250	broad.mit.edu	37	1	24998663	24998663	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24998663delT	uc001bjm.2	+						SRRM1_uc010oel.1_Intron	NM_005839	NP_005830			serine/arginine repetitive matrix 1						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)														---	---	---	---
SNHG12	85028	broad.mit.edu	37	1	28905063	28905064	+	RNA	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28905063_28905064insT	uc001bqk.2	-	6		c.725_726insA			SNHG12_uc001bql.2_RNA|SNHG12_uc001bqm.2_RNA|SNHG12_uc001bqn.2_RNA|SNHG12_uc001bqo.2_RNA|SNHG12_uc001bqp.2_RNA	NR_024127				Homo sapiens PNAS-123 mRNA, complete cds.												0																		---	---	---	---
LCK	3932	broad.mit.edu	37	1	32750903	32750903	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32750903delA	uc001bux.2	+						LCK_uc001buy.2_Intron|LCK_uc001buz.2_Intron|LCK_uc001bva.2_Intron	NM_005356	NP_005347			lymphocyte-specific protein tyrosine kinase						activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)			T	TRB@	T-ALL								---	---	---	---
IPP	3652	broad.mit.edu	37	1	46206445	46206445	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46206445delA	uc001cou.2	-						IPP_uc001cos.3_Intron	NM_005897	NP_005888			intracisternal A particle-promoted polypeptide							actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52923972	52923972	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52923972delA	uc001ctx.2	-						ZCCHC11_uc001cty.2_Intron|ZCCHC11_uc001ctz.2_Intron|ZCCHC11_uc009vze.1_Intron|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cua.1_Intron	NM_015269	NP_056084			zinc finger, CCHC domain containing 11 isoform						miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
USP24	23358	broad.mit.edu	37	1	55609729	55609729	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55609729delT	uc001cyg.3	-							NM_015306	NP_056121			ubiquitin specific protease 24						ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13																		---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57158313	57158313	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57158313delT	uc001cyk.3	+							NM_006252	NP_006243			AMP-activated protein kinase alpha 2 catalytic						carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6																		---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65310329	65310329	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65310329delA	uc001dbu.1	-						JAK1_uc009wam.1_Intron|JAK1_uc009wal.1_Intron	NM_002227	NP_002218			janus kinase 1						interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)				Mis		ALL								---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67142644	67142644	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67142644delT	uc001dcr.2	+						SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|uc010ope.1_Intron|SGIP1_uc009wat.2_Intron	NM_032291	NP_115667			SH3-domain GRB2-like (endophilin) interacting						positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	81674934	81674934	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:81674934delA								None (None upstream) : LPHN2 (96911 downstream)																																			---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82187977	82187977	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:82187977delA	uc001dit.3	+						LPHN2_uc001dis.2_Intron	NM_012302	NP_036434			latrophilin 2 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)														---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85510739	85510739	+	Intron	DEL	A	-	-	rs79389367	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85510739delA	uc001dkp.2	-						MCOLN3_uc001dkq.2_Intron|MCOLN3_uc001dkr.2_Intron|MCOLN3_uc001dks.3_Intron	NM_018298	NP_060768			mucolipin 3							integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)														---	---	---	---
WDR63	126820	broad.mit.edu	37	1	85594654	85594654	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85594654delA	uc001dkt.2	+						WDR63_uc009wcl.2_Intron	NM_145172	NP_660155			WD repeat domain 63											upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)														---	---	---	---
LOC400759	400759	broad.mit.edu	37	1	89887193	89887193	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89887193delT	uc009wcy.1	+							NR_003133				Homo sapiens cDNA, FLJ17004.												0																		---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93722149	93722149	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93722149delT	uc001dpq.2	+						CCDC18_uc001dpr.1_Intron	NM_206886	NP_996769			sarcoma antigen NY-SAR-41											ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)														---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102358807	102358808	+	Intron	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:102358807_102358808delAA	uc001dug.2	-						OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron	NM_058170	NP_477518			olfactomedin 3							extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	109646230	109646230	+	IGR	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109646230delG								SCARNA2 (2996 upstream) : C1orf194 (2344 downstream)																																			---	---	---	---
VTCN1	79679	broad.mit.edu	37	1	117715263	117715263	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117715263delC	uc001ehb.2	-						VTCN1_uc001ehc.2_Intron|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902			V-set domain containing T cell activation							integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)														---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146740634	146740635	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:146740634_146740635insT	uc001epm.3	+						uc001epp.2_Intron|CHD1L_uc001epn.3_Intron|CHD1L_uc010ozo.1_Intron|CHD1L_uc009wjg.2_Intron|CHD1L_uc009wjh.2_Intron|CHD1L_uc010ozp.1_Intron|CHD1L_uc001epo.3_Intron|CHD1L_uc010ozq.1_Intron|CHD1L_uc009wji.2_Intron	NM_004284	NP_004275			chromodomain helicase DNA binding protein						chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)																	---	---	---	---
ANP32E	81611	broad.mit.edu	37	1	150195337	150195337	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150195337delA	uc001etw.2	-						ANP32E_uc010pbt.1_Intron|ANP32E_uc010pbu.1_Intron|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Intron	NM_030920	NP_112182			acidic (leucine-rich) nuclear phosphoprotein 32							cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
ANP32E	81611	broad.mit.edu	37	1	150199259	150199259	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150199259delT	uc001etw.2	-						ANP32E_uc010pbt.1_5'Flank|ANP32E_uc010pbu.1_Intron|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Intron|ANP32E_uc010pbw.1_Intron	NM_030920	NP_112182			acidic (leucine-rich) nuclear phosphoprotein 32							cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity				0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
PRUNE	58497	broad.mit.edu	37	1	150990219	150990220	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150990219_150990220insA	uc001ewh.1	+						PRUNE_uc001ewi.1_Intron|PRUNE_uc010pco.1_Intron|PRUNE_uc001ewj.1_Intron	NM_021222	NP_067045			prune							cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---
GABPB2	126626	broad.mit.edu	37	1	151079397	151079397	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151079397delT	uc001ewr.2	+						GABPB2_uc001ews.2_Intron|GABPB2_uc001ewt.2_Intron	NM_144618	NP_653219			GA repeat binding protein, beta 2						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)														---	---	---	---
FLG	2312	broad.mit.edu	37	1	152287593	152287593	+	Intron	DEL	T	-	-	rs115170236	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152287593delT	uc001ezu.1	-						uc001ezv.2_Intron	NM_002016	NP_002007			filaggrin						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				---	---	---	---
C1orf77	26097	broad.mit.edu	37	1	153614681	153614682	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153614681_153614682insT	uc001fcm.1	+						C1orf77_uc001fcn.1_Intron|C1orf77_uc001fco.1_Intron|C1orf77_uc001fcp.2_5'Flank|C1orf77_uc009woj.1_Intron	NM_015607	NP_056422			small protein rich in arginine and glycine						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153995962	153995962	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153995962delT	uc001fdw.2	-						NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Intron	NM_207308	NP_997191			nucleoporin 210kDa-like isoform 1							integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154090061	154090061	+	Intron	DEL	A	-	-	rs79748906		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154090061delA	uc001fdw.2	-						NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Intron	NM_207308	NP_997191			nucleoporin 210kDa-like isoform 1							integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---
ADAM15	8751	broad.mit.edu	37	1	155030070	155030070	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155030070delC	uc001fgr.1	+						ADAM15_uc001fgq.1_Intron|ADAM15_uc010pet.1_Intron|ADAM15_uc010peu.1_Intron|ADAM15_uc001fgt.1_Intron|ADAM15_uc010pev.1_Intron|ADAM15_uc001fgs.1_Intron|ADAM15_uc001fgu.1_Intron|ADAM15_uc001fgw.1_Intron|ADAM15_uc001fgv.1_Intron|ADAM15_uc001fgx.1_Intron|ADAM15_uc001fgz.1_Intron|ADAM15_uc001fgy.1_Intron|ADAM15_uc001fha.1_Intron|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080			a disintegrin and metalloproteinase domain 15						angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)															---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155177744	155177744	+	5'Flank	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155177744delG	uc001fix.2	-						RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_Intron|THBS3_uc009wqj.1_Intron|MTX1_uc001fjb.2_5'Flank|MTX1_uc001fjc.2_5'Flank	NM_007112	NP_009043			thrombospondin 3 precursor						cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156530966	156530967	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156530966_156530967delTT	uc001fpf.2	-						IQGAP3_uc009wsb.1_Intron	NM_178229	NP_839943			IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
C1orf92	149499	broad.mit.edu	37	1	156899043	156899043	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156899043delC	uc001fqm.2	+						C1orf92_uc001fql.2_Intron	NM_144702	NP_653303			hypothetical protein LOC149499												0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
RGS4	5999	broad.mit.edu	37	1	163042165	163042165	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:163042165delT	uc009wuy.2	+						RGS4_uc001gcl.3_Intron|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Intron	NM_005613	NP_005604			regulator of G-protein signaling 4 isoform 2						inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174241529	174241529	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174241529delT	uc001gjx.2	+						RABGAP1L_uc009wwq.1_Intron|RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_5'Flank	NM_014857	NP_055672			RAB GTPase activating protein 1-like isoform A						regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	175891061	175891061	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175891061delA								TNR (178309 upstream) : RFWD2 (22906 downstream)																																			---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	175958359	175958359	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175958359delA	uc001gku.1	-						RFWD2_uc001gkv.1_Intron|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_Intron|RFWD2_uc001gkt.1_Intron	NM_022457	NP_071902			ring finger and WD repeat domain 2 isoform a						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
ABL2	27	broad.mit.edu	37	1	179153898	179153898	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179153898delT	uc001gmj.3	-						ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Intron|ABL2_uc009wxe.2_Intron	NM_007314	NP_009298			arg tyrosine kinase isoform b						axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)			T	ETV6	AML								---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179604781	179604781	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179604781delT	uc001gnf.1	+						TDRD5_uc010pnp.1_Intron|TDRD5_uc001gnh.1_Intron	NM_173533	NP_775804			tudor domain containing 5						DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5																		---	---	---	---
RNF2	6045	broad.mit.edu	37	1	185068822	185068822	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185068822delT	uc001grc.1	+						RNF2_uc001grd.1_Intron|RNF2_uc001gre.1_Intron	NM_007212	NP_009143			ring finger protein 2						histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(1)	1		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)														---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186040037	186040037	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186040037delA	uc001grq.1	+							NM_031935	NP_114141			hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
CFHR4	10877	broad.mit.edu	37	1	196876310	196876310	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196876310delA	uc001gto.2	+						CFHR4_uc009wyy.2_Intron|CFHR4_uc001gtp.2_Intron	NM_006684	NP_006675			complement factor H-related 4 precursor							extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197564687	197564687	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197564687delT	uc001guf.3	-						DENND1B_uc010ppe.1_Intron|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Intron	NM_144977	NP_659414			DENN/MADD domain containing 1B isoform 2							clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0																		---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203186707	203186707	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203186707delT	uc001gzn.2	-						FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Intron|CHIT1_uc009xam.1_Intron|CHIT1_uc009xan.1_Intron|CHIT1_uc001gzo.2_Intron	NM_003465	NP_003456			chitotriosidase precursor						chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0																		---	---	---	---
CTSE	1510	broad.mit.edu	37	1	206328523	206328524	+	Intron	DEL	TG	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206328523_206328524delTG	uc001hdu.2	+						CTSE_uc001hdv.2_Intron|CTSE_uc010prs.1_Intron	NM_001910	NP_001901			cathepsin E isoform a preproprotein						antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)															---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215914592	215914592	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215914592delA	uc001hku.1	-							NM_206933	NP_996816			usherin isoform B						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216256672	216256672	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216256672delA	uc001hku.1	-							NM_206933	NP_996816			usherin isoform B						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
TGFB2	7042	broad.mit.edu	37	1	218520021	218520021	+	5'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:218520021delT	uc001hlm.2	+	1					TGFB2_uc001hll.2_5'UTR|TGFB2_uc001hln.2_5'UTR|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229			transforming growth factor, beta 2 isoform 2						activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)														---	---	---	---
C1orf65	164127	broad.mit.edu	37	1	223568783	223568783	+	3'UTR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223568783delA	uc001hoa.2	+	1						NM_152610	NP_689823			hypothetical protein LOC164127											central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)														---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234572882	234572882	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234572882delT	uc001hwd.2	-							NM_005646	NP_005637			TAR RNA binding protein 1						regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)															---	---	---	---
ERO1LB	56605	broad.mit.edu	37	1	236385071	236385072	+	Intron	INS	-	TTAATA	TTAATA	rs10647377		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236385071_236385072insTTAATA	uc001hxt.2	-							NM_019891	NP_063944			endoplasmic reticulum oxidoreductin 1-Lbeta						electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)															---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236750617	236750617	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236750617delA	uc001hyd.1	-							NM_018072	NP_060542			protein BAP28						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236926030	236926030	+	3'UTR	DEL	A	-	-	rs1051251	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236926030delA	uc001hyf.2	+	21					ACTN2_uc001hyg.2_3'UTR|ACTN2_uc009xgi.1_3'UTR|ACTN2_uc010pxu.1_3'UTR|ACTN2_uc001hyh.2_3'UTR	NM_001103	NP_001094			actinin, alpha 2						focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)															---	---	---	---
RSAD2	91543	broad.mit.edu	37	2	7023412	7023412	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7023412delT	uc002qyp.1	+							NM_080657	NP_542388			radical S-adenosyl methionine domain containing						defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)														---	---	---	---
Unknown	0	broad.mit.edu	37	2	8743629	8743629	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8743629delA								LOC339788 (626652 upstream) : ID2 (75711 downstream)																																			---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10101687	10101687	+	Intron	DEL	T	-	-	rs138724700		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10101687delT	uc002raa.2	+						GRHL1_uc002rab.2_Intron|GRHL1_uc002rad.2_Intron|GRHL1_uc010yjb.1_Intron	NM_198182	NP_937825			grainyhead-like 1						cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
RRM2	6241	broad.mit.edu	37	2	10263453	10263453	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10263453delA	uc002rah.2	+							NM_001034	NP_001025			ribonucleotide reductase M2 polypeptide isoform						deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)														---	---	---	---
NTSR2	23620	broad.mit.edu	37	2	11800130	11800130	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11800130delC	uc002rbq.3	-							NM_012344	NP_036476			neurotensin receptor 2						sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)													---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20174176	20174178	+	Intron	DEL	AAA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20174176_20174178delAAA	uc002rdi.2	-						WDR35_uc002rdj.2_Intron|WDR35_uc010ext.2_Intron|WDR35_uc002rdh.2_Intron	NM_001006657	NP_001006658			WD repeat domain 35 isoform 1											ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
RAB10	10890	broad.mit.edu	37	2	26350554	26350554	+	Intron	DEL	C	-	-	rs147862296	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26350554delC	uc002rgv.2	+							NM_016131	NP_057215			ras-related GTP-binding protein RAB10						protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27556385	27556385	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27556385delT	uc002rjv.1	-						GTF3C2_uc010eyy.1_Intron|GTF3C2_uc002rju.1_Intron|GTF3C2_uc002rjw.1_Intron|uc002rjy.1_5'Flank	NM_001521	NP_001512			general transcription factor IIIC, polypeptide							transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
YIPF4	84272	broad.mit.edu	37	2	32530841	32530841	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32530841delT	uc002rok.2	+	6						NM_032312	NP_115688			Yip1 domain family, member 4							endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32690110	32690111	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32690110_32690111delTT	uc010ezu.2	+							NM_016252	NP_057336			baculoviral IAP repeat-containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	32892001	32892001	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32892001delT	uc002rom.2	+						TTC27_uc010ymx.1_Intron	NM_017735	NP_060205			tetratricopeptide repeat domain 27								protein binding			central_nervous_system(1)	1																		---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33488080	33488081	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33488080_33488081delTT	uc002ros.2	+						LTBP1_uc002rot.2_Intron|LTBP1_uc002rou.2_Intron|LTBP1_uc002rov.2_Intron|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron	NM_206943	NP_996826			latent transforming growth factor beta binding						negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---
ATL2	64225	broad.mit.edu	37	2	38545836	38545836	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38545836delA	uc002rqq.2	-						ATL2_uc010ynm.1_Intron|ATL2_uc010ynn.1_Intron|ATL2_uc010yno.1_Intron|ATL2_uc002rqs.2_Intron|ATL2_uc002rqr.2_Intron	NM_001135673	NP_001129145			atlastin GTPase 2 isoform 2						endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
SFRS7	6432	broad.mit.edu	37	2	38976951	38976952	+	Intron	INS	-	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38976951_38976952insC	uc002rqz.2	-						SFRS7_uc002rra.2_Intron|SFRS7_uc010ynp.1_Intron|GEMIN6_uc002rrb.2_5'Flank	NM_001031684	NP_001026854			splicing factor, arginine/serine-rich 7						mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding				0		all_hematologic(82;0.248)																---	---	---	---
MTA3	57504	broad.mit.edu	37	2	42883555	42883555	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42883555delT	uc002rso.1	+						MTA3_uc002rsp.1_Intron|MTA3_uc002rsq.2_Intron|MTA3_uc002rsr.2_Intron	NM_020744	NP_065795			metastasis associated 1 family, member 3							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2																		---	---	---	---
THADA	63892	broad.mit.edu	37	2	43513973	43513973	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43513973delT	uc002rsw.3	-						THADA_uc010far.2_Intron|THADA_uc002rsx.3_Intron|THADA_uc002rsy.3_Intron	NM_001083953	NP_001077422			thyroid adenoma associated								binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)																---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50693641	50693641	+	Intron	DEL	A	-	-	rs78516173	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50693641delA	uc010fbq.2	-						NRXN1_uc002rxb.3_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	NM_001135659	NP_001129131			neurexin 1 isoform alpha2 precursor						angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
PUS10	150962	broad.mit.edu	37	2	61171973	61171973	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61171973delA	uc010fci.2	-						PUS10_uc002sao.2_Intron|PUS10_uc010ypk.1_Intron	NM_144709	NP_653310			pseudouridylate synthase 10						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)															---	---	---	---
VPS54	51542	broad.mit.edu	37	2	64124487	64124487	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64124487delA	uc002scq.2	-						VPS54_uc002scp.2_Intron|VPS54_uc002scn.2_Intron|VPS54_uc002sco.2_Intron|VPS54_uc010fct.2_Intron	NM_016516	NP_057600			vacuolar protein sorting 54 isoform 1						protein transport|retrograde transport, endosome to Golgi						0																		---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69747001	69747001	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69747001delT	uc002sfp.2	-						AAK1_uc010fdk.2_Intron|AAK1_uc010yqm.1_Intron	NM_014911	NP_055726			AP2 associated kinase 1							coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0																		---	---	---	---
MIR1285-2	100302268	broad.mit.edu	37	2	70480799	70480799	+	5'Flank	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70480799delT	hsa-mir-1285-2|MI0006347	-																							0																		---	---	---	---
EXOC6B	23233	broad.mit.edu	37	2	72968603	72968603	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:72968603delA	uc010fep.2	-						EXOC6B_uc002sij.2_Intron	NM_015189	NP_056004			SEC15-like 2						protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2																		---	---	---	---
DNAH6	1768	broad.mit.edu	37	2	84777275	84777275	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:84777275delA	uc010fgb.2	+						DNAH6_uc002soo.2_Intron|DNAH6_uc002sop.2_Intron	NM_001370	NP_001361			dynein, axonemal, heavy polypeptide 6						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			central_nervous_system(1)	1																		---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86716975	86716975	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86716975delA	uc002sri.3	+						KDM3A_uc010ytj.1_Intron|KDM3A_uc010ytk.1_Intron	NM_018433	NP_060903			jumonji domain containing 1A						androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	89428590	89428590	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89428590delT	uc010ytr.1	-						uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114489046	114489046	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114489046delA	uc002tku.1	-						SLC35F5_uc002tkt.2_Intron	NM_025181	NP_079457			solute carrier family 35, member F5						transport	integral to membrane					0																		---	---	---	---
PTPN4	5775	broad.mit.edu	37	2	120620318	120620318	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120620318delT	uc002tmf.1	+							NM_002830	NP_002821			protein tyrosine phosphatase, non-receptor type							cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)													---	---	---	---
TSN	7247	broad.mit.edu	37	2	122516529	122516529	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:122516529delA	uc002tnl.2	+						TSN_uc002tnm.2_Intron|TSN_uc010yze.1_Intron|TSN_uc010flt.2_Intron	NM_004622	NP_004613			translin						DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			breast(2)|large_intestine(1)	3		Ovarian(717;0.0563)|Prostate(154;0.116)																---	---	---	---
Unknown	0	broad.mit.edu	37	2	127069561	127069562	+	IGR	DEL	TC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:127069561_127069562delTC								None (None upstream) : GYPC (344122 downstream)																																			---	---	---	---
ERCC3	2071	broad.mit.edu	37	2	128051010	128051010	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128051010delT	uc002toh.1	-						ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_Intron|ERCC3_uc002tog.1_Intron|ERCC3_uc010flx.1_Intron|ERCC3_uc010yzh.1_Intron|ERCC3_uc010fly.2_Intron	NM_000122	NP_000113			excision repair cross-complementing rodent						cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)				Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128884882	128884882	+	Intron	DEL	T	-	-	rs73955930	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128884882delT	uc002tps.2	+						UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.2_Intron	NM_020120	NP_064505			UDP-glucose ceramide glucosyltransferase-like 1						'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
KYNU	8942	broad.mit.edu	37	2	143718078	143718078	+	Intron	DEL	A	-	-	rs74847108		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:143718078delA	uc002tvl.2	+						KYNU_uc002tvk.2_Intron|KYNU_uc010fnm.2_Intron	NM_003937	NP_003928			kynureninase (L-kynurenine hydrolase) isoform a						anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)													---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149221230	149221231	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149221230_149221231insT	uc002twm.3	+						MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Intron	NM_018328	NP_060798			methyl-CpG binding domain protein 5							chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152417500	152417500	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152417500delA	uc010fnx.2	-						NEB_uc002txr.2_Intron	NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152426974	152426974	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152426974delA	uc010fnx.2	-						NEB_uc002txr.2_Intron	NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152524209	152524210	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152524209_152524210delTT	uc010fnx.2	-							NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
GPD2	2820	broad.mit.edu	37	2	157435842	157435843	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:157435842_157435843delTT	uc002tzf.3	+						GPD2_uc010zch.1_Intron|GPD2_uc002tzd.3_Intron|GPD2_uc002tze.1_Intron	NM_001083112	NP_001076581			glycerol-3-phosphate dehydrogenase 2,						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																		---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162851348	162851348	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162851348delA	uc002ubz.2	-						DPP4_uc010fpb.2_Intron	NM_001935	NP_001926			dipeptidylpeptidase IV						cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---
LASS6	253782	broad.mit.edu	37	2	169571833	169571833	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169571833delA	uc002ueb.1	+						LASS6_uc002uec.1_Intron	NM_203463	NP_982288			longevity assurance homolog 6							endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1																		---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169820689	169820689	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169820689delC	uc002ueo.1	-						ABCB11_uc010zda.1_Intron|ABCB11_uc010zdb.1_Intron	NM_003742	NP_003733			ATP-binding cassette, sub-family B (MDR/TAP),						bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	169994160	169994164	+	Intron	DEL	AAAAA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169994160_169994164delAAAAA	uc002ues.2	-							NM_004525	NP_004516			low density lipoprotein-related protein 2						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)													---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170462412	170462412	+	Intron	DEL	A	-	-	rs79084471	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170462412delA	uc002uez.2	+						PPIG_uc010fpx.2_Intron|PPIG_uc010fpy.2_Intron|PPIG_uc002ufa.2_Intron|PPIG_uc002ufb.2_Intron|PPIG_uc002ufc.1_Intron|PPIG_uc002ufd.2_Intron	NM_004792	NP_004783			peptidylprolyl isomerase G						protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)													---	---	---	---
KLHL23	151230	broad.mit.edu	37	2	170556626	170556626	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170556626delA	uc002ufh.1	+						PHOSPHO2_uc002ufg.2_Intron	NM_144711	NP_653312			kelch-like 23												0																		---	---	---	---
HAT1	8520	broad.mit.edu	37	2	172847964	172847964	+	Intron	DEL	A	-	-	rs78900975		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172847964delA	uc002uhi.2	+						HAT1_uc002uhj.2_Intron	NM_003642	NP_003633			histone acetyltransferase 1						chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179501647	179501647	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179501647delC	uc010zfg.1	-						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron	NM_133378	NP_596869			titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179591674	179591674	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179591674delA	uc010zfg.1	-						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133378	NP_596869			titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
CALCRL	10203	broad.mit.edu	37	2	188248043	188248043	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:188248043delA	uc002upv.3	-						CALCRL_uc010frt.2_Intron	NM_005795	NP_005786			calcitonin receptor-like precursor							integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)															---	---	---	---
HIBCH	26275	broad.mit.edu	37	2	191152424	191152424	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191152424delA	uc002uru.2	-						HIBCH_uc002urv.2_Intron	NM_014362	NP_055177			3-hydroxyisobutyryl-Coenzyme A hydrolase isoform						branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)															---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198360212	198360214	+	Intron	DEL	AAT	-	-	rs13432424		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198360212_198360214delAAT	uc002uui.2	-						HSPD1_uc002uuj.2_Intron|HSPD1_uc010zgx.1_Intron|HSPD1_uc010fsm.2_5'UTR|HSPD1_uc002uuk.2_Intron	NM_002156	NP_002147			chaperonin						'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding				0			Epithelial(96;0.225)															---	---	---	---
Unknown	0	broad.mit.edu	37	2	206813725	206813725	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206813725delA								NRP2 (150869 upstream) : INO80D (44721 downstream)																																			---	---	---	---
DYTN	391475	broad.mit.edu	37	2	207575454	207575454	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207575454delT	uc002vbr.1	-							NM_001093730	NP_001087199			dystrotelin							plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)														---	---	---	---
KLF7	8609	broad.mit.edu	37	2	208030440	208030440	+	5'UTR	DEL	A	-	-	rs71412410		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208030440delA	uc002vbz.1	-	1					KLF7_uc002vca.1_Intron	NM_003709	NP_003700			Kruppel-like factor 7 (ubiquitous)						regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			central_nervous_system(1)|skin(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)														---	---	---	---
IDH1	3417	broad.mit.edu	37	2	209115979	209115979	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209115979delT	uc002vcs.2	-						IDH1_uc002vct.2_Intron|IDH1_uc002vcu.2_Intron	NM_005896	NP_005887			isocitrate dehydrogenase 1 (NADP+), soluble						2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)				Mis		gliobastoma 								---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210545255	210545255	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210545255delT	uc002vde.1	+						MAP2_uc002vdc.1_Intron|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Intron	NM_002374	NP_002365			microtubule-associated protein 2 isoform 1						central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	216002611	216002611	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216002611delT	uc002vew.2	-						ABCA12_uc010zjn.1_Intron	NM_173076	NP_775099			ATP-binding cassette, sub-family A, member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219613010	219613010	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219613010delT	uc002viy.2	+						TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.2_Intron|TTLL4_uc010zkm.1_Intron	NM_014640	NP_055455			tubulin tyrosine ligase-like family, member 4						protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)														---	---	---	---
UGT1A5	54579	broad.mit.edu	37	2	234675952	234675952	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234675952delT	uc002vuw.2	+						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Intron|UGT1A1_uc002vvb.2_Intron	NM_019078	NP_061951			UDP glycosyltransferase 1 family, polypeptide A5						xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)														---	---	---	---
ANKMY1	51281	broad.mit.edu	37	2	241421797	241421797	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241421797delG	uc002vyz.1	-						ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Intron|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron	NM_016552	NP_057636			ankyrin repeat and MYND domain containing 1								zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)														---	---	---	---
C2orf54	79919	broad.mit.edu	37	2	241829668	241829669	+	Intron	INS	-	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241829668_241829669insG	uc002wae.3	-						C2orf54_uc002wac.2_Intron|C2orf54_uc002wad.2_Intron	NM_001085437	NP_001078906			hypothetical protein LOC79919 isoform 1												0		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	242027866	242027866	+	Intron	DEL	G	-	-	rs58025399	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242027866delG	uc002wah.1	+						SNED1_uc002waj.1_Intron	NM_001080437	NP_001073906			6720455I24Rik homolog precursor						cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)														---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242343227	242343228	+	Intron	INS	-	TC	TC			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242343227_242343228insTC	uc002wbi.1	+						FARP2_uc010zoq.1_Intron|FARP2_uc010zor.1_Intron	NM_014808	NP_055623			FERM, RhoGEF and pleckstrin domain protein 2						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)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1369346	1369347	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1369346_1369347insT	uc003boz.2	+						CNTN6_uc011asj.1_Intron|CNTN6_uc003bpa.2_Intron	NM_014461	NP_055276			contactin 6 precursor						axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2942352	2942352	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:2942352delT	uc003bpc.2	+						CNTN4_uc003bpb.1_Intron|CNTN4_uc003bpd.1_Intron|CNTN4_uc003bpe.2_Intron|CNTN4_uc003bpf.2_Intron	NM_175607	NP_783200			contactin 4 isoform a precursor						axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)														---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7456626	7456626	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:7456626delA	uc003bqm.2	+						GRM7_uc011ata.1_Intron|GRM7_uc011atb.1_Intron|GRM7_uc010hcf.2_Intron|GRM7_uc011atc.1_Intron|GRM7_uc010hcg.2_Intron|GRM7_uc003bql.2_Intron|GRM7_uc003bqn.1_Intron	NM_000844	NP_000835			glutamate receptor, metabotropic 7 isoform a						negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)													---	---	---	---
THUMPD3	25917	broad.mit.edu	37	3	9425697	9425697	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9425697delA	uc003bro.3	+						LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Intron	NM_001114092	NP_001107564			THUMP domain containing 3								methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)														---	---	---	---
OGG1	4968	broad.mit.edu	37	3	9797996	9797996	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9797996delA	uc003bsi.2	+						OGG1_uc003bsh.2_Intron|OGG1_uc003bsj.2_Intron|OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Intron|OGG1_uc010hcm.1_Intron|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Intron	NM_002542	NP_002533			8-oxoguanine DNA-glycosylase 1 isoform 1a						depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)												BER_DNA_glycosylases					---	---	---	---
SEC13	6396	broad.mit.edu	37	3	10357003	10357004	+	Splice_Site	INS	-	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10357003_10357004insC	uc003bvn.2	-	3	283	c.164_splice	c.e3+1	p.G55_splice	SEC13_uc003bvl.2_5'Flank|SEC13_uc003bvm.2_Splice_Site_p.G41_splice|SEC13_uc003bvp.2_Splice_Site_p.G58_splice|SEC13_uc003bvo.2_Splice_Site_p.G101_splice|SEC13_uc003bvq.1_Splice_Site_p.G41_splice|SEC13_uc003bvr.1_Splice_Site_p.G41_splice|SEC13_uc011aul.1_Splice_Site_p.G55_splice	NM_183352	NP_899195			SEC13 protein isoform 1						COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1																		---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10427117	10427117	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10427117delA	uc003bvt.2	-						ATP2B2_uc003bvv.2_Intron|ATP2B2_uc003bvw.2_Intron|ATP2B2_uc010hdo.2_Intron	NM_001001331	NP_001001331			plasma membrane calcium ATPase 2 isoform 1						ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
SLC6A1	6529	broad.mit.edu	37	3	11062017	11062017	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11062017delG	uc010hdq.2	+							NM_003042	NP_003033			solute carrier family 6 (neurotransmitter						neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)													---	---	---	---
Unknown	0	broad.mit.edu	37	3	11923145	11923145	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11923145delA								C3orf31 (34793 upstream) : SYN2 (122717 downstream)																																			---	---	---	---
FBLN2	2199	broad.mit.edu	37	3	13659838	13659838	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13659838delG	uc011avb.1	+						FBLN2_uc011auz.1_Intron|FBLN2_uc011ava.1_Intron|FBLN2_uc011avc.1_Intron	NM_001998	NP_001989			fibulin 2 isoform b precursor							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)															---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15837004	15837004	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15837004delA	uc003caj.1	-						ANKRD28_uc011avz.1_Intron|ANKRD28_uc003cak.1_Intron|ANKRD28_uc011awa.1_Intron|ANKRD28_uc003cal.1_Intron|ANKRD28_uc003cam.2_Intron	NM_015199	NP_056014			ankyrin repeat domain 28							nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
EFHB	151651	broad.mit.edu	37	3	19938398	19938398	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19938398delA	uc003cbl.3	-						EFHB_uc003cbm.2_Intron	NM_144715	NP_653316			EF hand domain family, member B						signal transduction	proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---
UBE2E2	7325	broad.mit.edu	37	3	23574413	23574413	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:23574413delA	uc003ccg.2	+						UBE2E2_uc010hfc.2_Intron	NM_152653	NP_689866			ubiquitin-conjugating enzyme E2E 2						ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity				0																		---	---	---	---
CMC1	152100	broad.mit.edu	37	3	28357733	28357733	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:28357733delT	uc003cea.2	+							NM_182523	NP_872329			COX assembly mitochondrial protein homolog							mitochondrion	metal ion binding				0																		---	---	---	---
RBMS3	27303	broad.mit.edu	37	3	29628734	29628743	+	Intron	DEL	TTTTTTTGTG	-	-	rs55696962		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:29628734_29628743delTTTTTTTGTG	uc003cel.2	+						RBMS3_uc003cek.2_Intron|RBMS3_uc010hfq.2_Intron|RBMS3_uc003cem.2_Intron|RBMS3_uc010hfr.2_Intron	NM_001003793	NP_001003793			RNA binding motif, single stranded interacting							cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)																---	---	---	---
GADL1	339896	broad.mit.edu	37	3	30769515	30769515	+	3'UTR	DEL	T	-	-	rs72077676		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:30769515delT	uc003cep.2	-	15						NM_207359	NP_997242			glutamate decarboxylase-like 1						carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)													---	---	---	---
Unknown	0	broad.mit.edu	37	3	32549855	32549857	+	IGR	DEL	AAA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32549855_32549857delAAA								CMTM6 (5452 upstream) : DYNC1LI1 (17612 downstream)																																			---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32933428	32933429	+	3'UTR	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32933428_32933429delTT	uc003cff.2	+	4						NM_001039111	NP_001034200			tripartite motif-containing 71						multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33576992	33576992	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33576992delT	uc003cfu.2	-						CLASP2_uc003cfs.2_Intron|CLASP2_uc003cft.2_Intron|CLASP2_uc010hgb.2_Intron|CLASP2_uc011axt.1_Intron	NM_015097	NP_055912			CLIP-associating protein 2											ovary(3)|central_nervous_system(1)	4																		---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33686601	33686601	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33686601delT	uc003cfu.2	-						CLASP2_uc003cft.2_Intron|CLASP2_uc010hgb.2_Intron|CLASP2_uc003cfv.2_Intron|CLASP2_uc011axu.1_5'UTR|CLASP2_uc003cfw.2_Intron	NM_015097	NP_055912			CLIP-associating protein 2											ovary(3)|central_nervous_system(1)	4																		---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37053550	37053550	+	Frame_Shift_Del	DEL	G	-	-	rs2308317	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37053550delG	uc003cgl.2	+	8	697	c.637delG	c.(637-639)GTGfs	p.V213fs	MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Frame_Shift_Del_p.V213fs|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Frame_Shift_Del_p.V115fs|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_5'UTR|MLH1_uc010hgk.2_5'UTR|MLH1_uc010hgl.1_5'Flank	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	213					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77							1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37317153	37317153	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37317153delG	uc003cgv.2	+						GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Intron|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgu.1_Intron	NM_002078	NP_002069			golgi autoantigen, golgin subfamily a, 4						Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37330703	37330703	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37330703delT	uc003cgv.2	+						GOLGA4_uc010hgr.1_Intron|GOLGA4_uc003cgw.2_Intron|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Intron|GOLGA4_uc003cgu.1_Intron	NM_002078	NP_002069			golgi autoantigen, golgin subfamily a, 4						Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37381780	37381780	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37381780delT	uc003cgv.2	+						GOLGA4_uc003cgw.2_Intron|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Intron	NM_002078	NP_002069			golgi autoantigen, golgin subfamily a, 4						Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38164763	38164764	+	Intron	DEL	CA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38164763_38164764delCA	uc003cht.2	-						ACAA1_uc003chu.2_Intron|ACAA1_uc010hgy.2_Intron|ACAA1_uc010hgz.2_Intron|ACAA1_uc003chv.2_Intron	NM_001607	NP_001598			acetyl-Coenzyme A acyltransferase 1 isoform a						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)														---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38265108	38265110	+	Intron	DEL	TTT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38265108_38265110delTTT	uc003chy.2	+						OXSR1_uc010hhb.2_Intron|OXSR1_uc010hha.1_Intron	NM_005109	NP_005100			oxidative-stress responsive 1						intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38793535	38793536	+	Intron	INS	-	TC	TC	rs150686487	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38793535_38793536insTC	uc003ciq.2	-							NM_006514	NP_006505			sodium channel, voltage-gated, type X, alpha						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)													---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38949543	38949543	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38949543delT	uc011ays.1	-	10	1569	c.1370delA	c.(1369-1371)AAGfs	p.K457fs		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	457					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)													---	---	---	---
WDR48	57599	broad.mit.edu	37	3	39121307	39121307	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39121307delT	uc003cit.2	+						WDR48_uc011ayt.1_Intron|WDR48_uc011ayu.1_Intron|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_Intron	NM_020839	NP_065890			WD repeat domain 48						interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41265406	41265406	+	Intron	DEL	T	-	-	rs77248156		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:41265406delT	uc010hia.1	+						CTNNB1_uc003ckp.2_Intron|CTNNB1_uc003ckq.2_Intron|CTNNB1_uc003ckr.2_Intron|CTNNB1_uc011azf.1_Intron|CTNNB1_uc011azg.1_Intron|uc010hib.1_Intron	NM_001904	NP_001895			beta-catenin						adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_A80del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41279325	41279325	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:41279325delA	uc010hia.1	+						CTNNB1_uc003ckp.2_Intron|CTNNB1_uc003ckq.2_Intron|CTNNB1_uc003ckr.2_Intron|CTNNB1_uc011azf.1_Intron|CTNNB1_uc011azg.1_Intron	NM_001904	NP_001895			beta-catenin						adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42218106	42218106	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42218106delC	uc003cky.2	+						TRAK1_uc011azh.1_Intron|TRAK1_uc011azi.1_Intron|TRAK1_uc003ckz.3_Intron|TRAK1_uc011azj.1_Intron|TRAK1_uc003cla.2_Intron	NM_001042646	NP_001036111			OGT(O-Glc-NAc transferase)-interacting protein						endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1																		---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44827737	44827737	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44827737delT	uc003cnx.3	+						KIF15_uc010hiq.2_Intron	NM_020242	NP_064627			kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)														---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46560368	46560368	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46560368delT	uc010hji.2	-	9					LRRC2_uc003cpu.3_3'UTR	NM_024512	NP_078788			leucine rich repeat containing 2											ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)														---	---	---	---
PRSS50	29122	broad.mit.edu	37	3	46753703	46753703	+	3'UTR	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46753703delG	uc003cqe.1	-	6					PRSS50_uc003cqf.1_3'UTR	NM_013270	NP_037402			testes-specific protease 50 precursor						proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0																		---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47317034	47317034	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47317034delA	uc010hjp.2	-						KIF9_uc003cqx.2_Intron|KIF9_uc003cqy.2_Intron|KIF9_uc011bat.1_Intron|KIF9_uc011bau.1_Intron|KIF9_uc003cra.3_Intron	NM_001134878	NP_001128350			kinesin family member 9 isoform 2						blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
KLHL18	23276	broad.mit.edu	37	3	47371414	47371414	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47371414delT	uc003crd.2	+						KLHL18_uc003crc.2_Intron|KLHL18_uc011bav.1_Intron|KLHL18_uc010hjq.1_5'Flank	NM_025010	NP_079286			kelch-like 18												0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)														---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47734484	47734484	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47734484delA	uc003crq.2	-						SMARCC1_uc011bbd.1_Intron	NM_003074	NP_003065			SWI/SNF-related matrix-associated						chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)														---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47859779	47859780	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47859779_47859780insT	uc003cru.2	+						DHX30_uc003crs.2_Intron|DHX30_uc003crt.2_Intron	NM_138615	NP_619520			DEAH (Asp-Glu-Ala-His) box polypeptide 30							mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
MAP4	4134	broad.mit.edu	37	3	47956085	47956085	+	Intron	DEL	A	-	-	rs79338534		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47956085delA	uc003csb.2	-						MAP4_uc003csc.3_Intron|MAP4_uc011bbf.1_Intron|MAP4_uc003csf.3_Intron	NM_002375	NP_002366			microtubule-associated protein 4 isoform 1						negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)														---	---	---	---
CDC25A	993	broad.mit.edu	37	3	48224593	48224593	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48224593delA	uc003csh.1	-						CDC25A_uc003csi.1_Intron	NM_001789	NP_001780			cell division cycle 25A isoform a						cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)														---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48447021	48447022	+	Intron	DEL	TG	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48447021_48447022delTG	uc003csw.2	-						PLXNB1_uc003cst.2_Intron|PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Intron	NM_002673	NP_002664			plexin B1 precursor						axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
ATRIP	84126	broad.mit.edu	37	3	48506221	48506222	+	Intron	DEL	CT	-	-	rs3135937		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48506221_48506222delCT	uc003ctf.1	+						ATRIP_uc011bbj.1_Intron|ATRIP_uc003ctg.1_Intron|TREX1_uc010hjy.2_Intron|TREX1_uc003ctj.2_5'Flank|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	NM_130384	NP_569055			ATR interacting protein isoform 1						DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)									Other_conserved_DNA_damage_response_genes					---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48602622	48602622	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48602622delG	uc003ctz.2	-	116	8541	c.8540delC	c.(8539-8541)CCTfs	p.P2847fs	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2847	Nonhelical region (NC2).				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)														---	---	---	---
PRKAR2A	5576	broad.mit.edu	37	3	48810664	48810664	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48810664delA	uc010hki.1	-						PRKAR2A_uc003cux.1_Intron|PRKAR2A_uc003cuy.1_Intron	NM_004157	NP_004148			cAMP-dependent protein kinase, regulatory						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)														---	---	---	---
PRKAR2A	5576	broad.mit.edu	37	3	48831588	48831589	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48831588_48831589delTT	uc010hki.1	-						PRKAR2A_uc003cux.1_Intron|PRKAR2A_uc003cuy.1_Intron	NM_004157	NP_004148			cAMP-dependent protein kinase, regulatory						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)														---	---	---	---
AMT	275	broad.mit.edu	37	3	49456495	49456495	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49456495delG	uc003cww.2	-	7	915	c.786delC	c.(784-786)GACfs	p.D262fs	AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Frame_Shift_Del_p.D262fs|AMT_uc011bco.1_Frame_Shift_Del_p.D218fs|AMT_uc003cwy.2_Frame_Shift_Del_p.D214fs|AMT_uc011bcp.1_Frame_Shift_Del_p.D165fs|AMT_uc011bcq.1_Frame_Shift_Del_p.D206fs	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	262					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)													---	---	---	---
CAMKV	79012	broad.mit.edu	37	3	49897893	49897894	+	Intron	INS	-	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49897893_49897894insC	uc003cxt.1	-						CAMKV_uc011bcy.1_Intron|CAMKV_uc003cxv.1_Intron|CAMKV_uc003cxw.1_Intron|CAMKV_uc003cxx.1_Intron|CAMKV_uc003cxu.2_Intron|CAMKV_uc011bcz.1_Intron|CAMKV_uc011bda.1_Intron|CAMKV_uc011bdb.1_Intron	NM_024046	NP_076951			CaM kinase-like vesicle-associated							cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)														---	---	---	---
RBM5	10181	broad.mit.edu	37	3	50137714	50137716	+	Intron	DEL	TTT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50137714_50137716delTTT	uc003cyg.2	+						RBM5_uc003cyf.2_3'UTR|RBM5_uc011bdj.1_Intron|RBM5_uc011bdk.1_Intron	NM_005778	NP_005769			RNA binding motif protein 5						apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
ALAS1	211	broad.mit.edu	37	3	52246545	52246545	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52246545delT	uc003dcy.1	+						ALAS1_uc003dcz.1_Intron|ALAS1_uc011bec.1_Intron	NM_000688	NP_000679			5-aminolevulinate synthase 1 precursor						heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)													---	---	---	---
NEK4	6787	broad.mit.edu	37	3	52768925	52768926	+	Intron	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52768925_52768926delAA	uc003dfq.3	-						NEK4_uc011bej.1_Intron	NM_003157	NP_003148			NIMA-related kinase 4						cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)														---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53766820	53766820	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53766820delA	uc003dgv.3	+						CACNA1D_uc003dgu.3_Intron|CACNA1D_uc003dgy.3_Intron|CACNA1D_uc003dgw.3_Intron|CACNA1D_uc003dgx.1_Intron	NM_001128840	NP_001122312			calcium channel, voltage-dependent, L type,						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	55052208	55052208	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:55052208delT	uc003dhf.2	+						CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_018398	NP_060868			calcium channel, voltage-dependent, alpha							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)														---	---	---	---
ARHGEF3	50650	broad.mit.edu	37	3	56784954	56784954	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56784954delT	uc003dig.2	-						ARHGEF3_uc011bew.1_Intron|ARHGEF3_uc003dih.2_Intron|ARHGEF3_uc011bev.1_Intron|ARHGEF3_uc003dif.2_Intron|ARHGEF3_uc010hmy.1_Intron|ARHGEF3_uc003dii.2_Intron	NM_019555	NP_062455			Rho guanine nucleotide exchange factor 3 isoform						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)														---	---	---	---
APPL1	26060	broad.mit.edu	37	3	57280018	57280020	+	Intron	DEL	CTC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57280018_57280020delCTC	uc003dio.2	+						APPL1_uc010hnb.2_Intron|APPL1_uc011bey.1_Intron	NM_012096	NP_036228			adaptor protein, phosphotyrosine interaction, PH						apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)														---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58111632	58111632	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58111632delA	uc003djj.2	+						FLNB_uc010hne.2_Intron|FLNB_uc003djk.2_Intron|FLNB_uc010hnf.2_Intron|FLNB_uc003djl.2_Intron|FLNB_uc003djm.2_Intron	NM_001457	NP_001448			filamin B isoform 2						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)														---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100042414	100042414	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100042414delT	uc003dtt.2	+						TBC1D23_uc003dts.2_Intron|TBC1D23_uc003dtu.2_Intron	NM_018309	NP_060779			TBC1 domain family, member 23							intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2																		---	---	---	---
TFG	10342	broad.mit.edu	37	3	100447416	100447417	+	Intron	INS	-	A	A	rs1143775	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100447416_100447417insA	uc003due.2	+						TFG_uc003duf.2_Intron|TFG_uc003dug.2_Intron|TFG_uc003duh.2_Intron|TFG_uc003dui.2_Intron	NM_006070	NP_006061			TRK-fused						positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11								T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								---	---	---	---
C3orf17	25871	broad.mit.edu	37	3	112736520	112736520	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112736520delA	uc003dzr.2	-						C3orf17_uc011bhz.1_Intron|C3orf17_uc010hqh.2_Intron|C3orf17_uc003dzt.2_Intron|C3orf17_uc003dzs.2_Intron|C3orf17_uc010hqg.2_Intron|C3orf17_uc011bia.1_Intron|C3orf17_uc003dzu.2_Intron|C3orf17_uc011bib.1_Intron|C3orf17_uc011bic.1_Intron|C3orf17_uc011bid.1_Intron	NM_015412	NP_056227			hypothetical protein LOC25871							integral to membrane					0																		---	---	---	---
FAM162A	26355	broad.mit.edu	37	3	122126370	122126370	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122126370delA	uc003eez.2	+						FAM162A_uc011bjq.1_3'UTR	NM_014367	NP_055182			growth and transformation-dependent protein							integral to membrane				ovary(1)	1																		---	---	---	---
RPN1	6184	broad.mit.edu	37	3	128363639	128363639	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128363639delA	uc003ekr.1	-						RPN1_uc011bkq.1_Intron	NM_002950	NP_002941			ribophorin I precursor						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)				T	EVI1	AML								---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137888783	137888783	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137888783delA	uc003erv.2	-						DBR1_uc003eru.2_Intron	NM_016216	NP_057300			debranching enzyme homolog 1							nucleus	metal ion binding|RNA lariat debranching enzyme activity				0																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138474573	138474573	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138474573delT	uc011bmq.1	-							NM_006219	NP_006210			catalytic phosphatidylinositol 3-kinase beta						activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5																		---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142051517	142051517	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142051517delA	uc003eus.2	-						XRN1_uc010huu.2_Intron|XRN1_uc003eut.2_Intron|XRN1_uc003euu.2_Intron	NM_019001	NP_061874			5'-3' exoribonuclease 1 isoform a						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3																		---	---	---	---
PLSCR2	57047	broad.mit.edu	37	3	146172071	146172071	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:146172071delT	uc003evv.1	-						PLSCR2_uc003evw.1_Intron	NM_020359	NP_065092			phospholipid scramblase 2						phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity				0																		---	---	---	---
MBNL1	4154	broad.mit.edu	37	3	152173838	152173839	+	Intron	INS	-	C	C	rs140032435		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:152173838_152173839insC	uc003ezm.2	+						MBNL1_uc003ezh.2_Intron|MBNL1_uc003ezi.2_Intron|MBNL1_uc003ezj.2_Intron|MBNL1_uc003ezl.2_Intron|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Intron|MBNL1_uc003ezo.2_Intron|MBNL1_uc010hvp.2_Intron	NM_207293	NP_997176			muscleblind-like 1 isoform c						embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154013228	154013229	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154013228_154013229insT	uc003ezy.3	-						DHX36_uc010hvq.2_Intron|DHX36_uc003ezz.3_Intron	NM_020865	NP_065916			DEAH (Asp-Glu-Ala-His) box polypeptide 36							cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154017854	154017854	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154017854delT	uc003ezy.3	-						DHX36_uc010hvq.2_Intron|DHX36_uc003ezz.3_Intron	NM_020865	NP_065916			DEAH (Asp-Glu-Ala-His) box polypeptide 36							cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
TIPARP	25976	broad.mit.edu	37	3	156421055	156421055	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156421055delT	uc003fav.2	+						TIPARP_uc003faw.2_Intron	NM_015508	NP_056323			TCDD-inducible poly(ADP-ribose) polymerase								NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---
SI	6476	broad.mit.edu	37	3	164779998	164779998	+	Intron	DEL	A	-	-	rs145798125	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164779998delA	uc003fei.2	-							NM_001041	NP_001032			sucrase-isomaltase						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906625	164906625	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906625delA	uc003fej.3	-	2	2438	c.1994delT	c.(1993-1995)TTCfs	p.F665fs	SLITRK3_uc003fek.2_Frame_Shift_Del_p.F665fs	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	665	Helical; (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---
Unknown	0	broad.mit.edu	37	3	166783565	166783566	+	IGR	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:166783565_166783566insA								None (None upstream) : ZBBX (174515 downstream)																																			---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168864478	168864478	+	5'Flank	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168864478delT	uc003ffi.3	-						MECOM_uc003ffj.3_5'Flank|MECOM_uc011bpi.1_5'Flank|MECOM_uc003ffn.3_5'Flank|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Intron|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Intron|MECOM_uc003ffm.1_5'Flank|MECOM_uc003ffo.1_5'Flank	NM_005241	NP_005232			MDS1 and EVI1 complex locus isoform b						apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
USP13	8975	broad.mit.edu	37	3	179479202	179479203	+	Intron	INS	-	T	T	rs112466724		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179479202_179479203insT	uc003fkh.2	+							NM_003940	NP_003931			ubiquitin thiolesterase 13						ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183521617	183521617	+	Intron	DEL	T	-	-	rs3214844		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183521617delT	uc003fly.2	+							NM_018023	NP_060493			YEATS domain containing 2						histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185146204	185146205	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185146204_185146205delTT	uc010hyf.2	+						MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_Intron|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Intron|MAP3K13_uc010hyg.2_Intron	NM_004721	NP_004712			mitogen-activated protein kinase kinase kinase						activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)															---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193336468	193336469	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193336468_193336469insT	uc003ftm.2	+						OPA1_uc003ftg.2_Intron|OPA1_uc003fth.2_Intron|OPA1_uc003fti.2_Intron|OPA1_uc003ftj.2_Intron|OPA1_uc003ftk.2_Intron|OPA1_uc003ftl.2_Intron|OPA1_uc003ftn.2_Intron	NM_015560	NP_056375			optic atrophy 1 isoform 1						apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)														---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194182746	194182748	+	Intron	DEL	AAG	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194182746_194182748delAAG	uc003fty.3	-							NM_024524	NP_078800			ATPase type 13A3						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)														---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196857208	196857208	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196857208delC	uc003fxo.3	-						DLG1_uc011bub.1_Intron|DLG1_uc011buc.1_Intron|DLG1_uc011bud.1_Intron|DLG1_uc003fxn.3_Intron|DLG1_uc011bue.1_Intron|DLG1_uc010ial.2_Intron|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_Intron|DLG1_uc010iam.1_Intron|DLG1_uc010ian.2_Intron	NM_001098424	NP_001091894			discs, large homolog 1 isoform 1						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)														---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197670508	197670508	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197670508delA	uc003fyo.2	-						IQCG_uc003fyp.2_Intron|IQCG_uc003fyq.3_Intron	NM_001134435	NP_001127907			IQ motif containing G												0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)														---	---	---	---
KIAA1530	57654	broad.mit.edu	37	4	1345341	1345341	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1345341delT	uc003gde.3	+							NM_020894	NP_065945			hypothetical protein LOC57654												0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)															---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1940129	1940129	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1940129delT	uc003gdz.3	+						WHSC1_uc003geb.3_Intron|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_Intron|WHSC1_uc003gef.3_Intron|WHSC1_uc003gei.3_5'Flank|WHSC1_uc003gdy.1_Intron|WHSC1_uc010icd.1_Intron|WHSC1_uc003gea.1_Intron|WHSC1_uc010ice.1_Intron|WHSC1_uc003geh.1_Intron	NM_001042424	NP_001035889			Wolf-Hirschhorn syndrome candidate 1 protein						anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)				T	IGH@	MM								---	---	---	---
HTT	3064	broad.mit.edu	37	4	3237477	3237477	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3237477delG	uc011bvq.1	+	64	8908	c.8763delG	c.(8761-8763)CTGfs	p.L2921fs		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2919					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3344469	3344470	+	Intron	INS	-	T	T	rs112112932		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3344469_3344470insT	uc003ggw.2	+						RGS12_uc003ggu.2_Intron|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Intron|RGS12_uc003ggv.2_Intron|RGS12_uc003ggy.1_Intron|RGS12_uc003ggx.1_Intron	NM_198229	NP_937872			regulator of G-protein signalling 12 isoform 1							condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6056049	6056049	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6056049delT	uc003giu.3	-						JAKMIP1_uc010idb.1_Intron|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Intron|JAKMIP1_uc010ide.2_Intron	NM_144720	NP_653321			janus kinase and microtubule interacting protein						protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---
ABLIM2	84448	broad.mit.edu	37	4	8007284	8007284	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8007284delA	uc003gko.2	-						ABLIM2_uc003gkk.2_Intron|ABLIM2_uc003gkl.2_Intron|ABLIM2_uc003gkj.3_Intron|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Intron|ABLIM2_uc003gkr.2_Intron|MIR95_hsa-mir-95|MI0000097_5'Flank	NM_001130084	NP_001123556			actin binding LIM protein family, member 2						axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3																		---	---	---	---
CC2D2A	57545	broad.mit.edu	37	4	15517757	15517757	+	Intron	DEL	T	-	-	rs142208236		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15517757delT	uc010idv.2	+						CC2D2A_uc003gnx.2_Intron|CC2D2A_uc003gnv.2_Intron|uc003gny.1_5'Flank	NM_001080522	NP_001073991			coiled-coil and C2 domain containing 2A isoform						cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3																		---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20714192	20714193	+	Intron	INS	-	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20714192_20714193insG	uc010iek.2	+						PACRGL_uc003gpu.2_Intron|PACRGL_uc010iei.1_Intron|PACRGL_uc003gpz.2_Intron|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpv.2_Intron|PACRGL_uc003gpw.2_Intron|PACRGL_uc010iej.1_Intron|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485			PARK2 co-regulated-like isoform 1								binding				0																		---	---	---	---
PPARGC1A	10891	broad.mit.edu	37	4	23825732	23825732	+	Intron	DEL	T	-	-	rs56881226	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:23825732delT	uc003gqs.2	-						PPARGC1A_uc003gqt.2_Intron|PPARGC1A_uc011bxp.1_Intron|PPARGC1A_uc010ier.1_Intron	NM_013261	NP_037393			peroxisome proliferator-activated receptor						androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)																---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24541704	24541704	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24541704delT	uc003gqx.2	-						DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349			DEAH (Asp-Glu-Ala-His) box polypeptide 15						mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24544451	24544451	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24544451delA	uc003gqx.2	-							NM_001358	NP_001349			DEAH (Asp-Glu-Ala-His) box polypeptide 15						mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---
PI4K2B	55300	broad.mit.edu	37	4	25262248	25262265	+	Intron	DEL	ATATATATATATATATAC	-	-	rs141565073	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25262248_25262265delATATATATATATATATAC	uc003grk.2	+						PI4K2B_uc011bxs.1_Intron	NM_018323	NP_060793			phosphatidylinositol 4-kinase type 2 beta							cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)																---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27009063	27009063	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:27009063delT	uc003gsh.3	+						STIM2_uc003gsg.3_Intron|STIM2_uc010iex.2_Intron|STIM2_uc010iey.2_Intron	NM_020860	NP_065911			stromal interaction molecule 2						activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)																---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30921710	30921710	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:30921710delT	uc011bxx.1	+						PCDH7_uc011bxw.1_Intron	NM_002589	NP_002580			protocadherin 7 isoform a precursor						homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4																		---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691775	38691776	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38691775_38691776insT	uc003gth.3	+						KLF3_uc003gtg.2_3'UTR	NM_016531	NP_057615			Kruppel-like factor 3 (basic)						multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2																		---	---	---	---
TLR1	7096	broad.mit.edu	37	4	38798148	38798148	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38798148delA	uc003gtl.2	-	4	2579	c.2305delT	c.(2305-2307)TGGfs	p.W769fs		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	769	Cytoplasmic (Potential).|TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5																		---	---	---	---
WDR19	57728	broad.mit.edu	37	4	39217323	39217323	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39217323delA	uc003gtv.2	+						WDR19_uc010ifl.1_Intron|WDR19_uc003gtu.1_Intron|WDR19_uc011byi.1_Intron|WDR19_uc003gtw.1_5'Flank	NM_025132	NP_079408			WD repeat domain 19						cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1																		---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39927417	39927418	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39927417_39927418insA	uc003guv.3	-						PDS5A_uc010ifo.2_Intron|PDS5A_uc003guw.3_Intron	NM_001100399	NP_001093869			PDS5, regulator of cohesion maintenance, homolog						cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---
KDR	3791	broad.mit.edu	37	4	55972313	55972313	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55972313delT	uc003has.2	-						KDR_uc003hat.1_Intron|KDR_uc011bzx.1_Intron	NM_002253	NP_002244			kinase insert domain receptor precursor						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76542387	76542387	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76542387delA	uc003hiq.2	-						CDKL2_uc011cbp.1_Intron|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939			cyclin-dependent kinase-like 2						sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(2)|stomach(2)|breast(2)|skin(1)	7			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)															---	---	---	---
SCARB2	950	broad.mit.edu	37	4	77094999	77094999	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77094999delT	uc003hju.1	-						SCARB2_uc011cbu.1_Intron	NM_005506	NP_005497			scavenger receptor class B, member 2						cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity				0			Lung(101;0.196)															---	---	---	---
CCNI	10983	broad.mit.edu	37	4	77969240	77969240	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77969240delT	uc003hkm.2	-	7					CCNI_uc011ccb.1_3'UTR	NM_006835	NP_006826			cyclin I						spermatogenesis					ovary(1)	1																		---	---	---	---
CNOT6L	246175	broad.mit.edu	37	4	78695895	78695895	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:78695895delA	uc011ccd.1	-						CNOT6L_uc003hks.2_Intron|CNOT6L_uc011cce.1_Intron	NM_144571	NP_653172			CCR4-NOT transcription complex, subunit 6-like						nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1																		---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81307673	81307674	+	Intron	INS	-	C	C	rs138985849		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81307673_81307674insC	uc003hmf.2	+						C4orf22_uc010ijp.2_Intron	NM_152770	NP_689983			hypothetical protein LOC255119											skin(2)	2																		---	---	---	---
AGPAT9	84803	broad.mit.edu	37	4	84511261	84511262	+	Intron	DEL	AC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84511261_84511262delAC	uc003how.2	+						AGPAT9_uc003hox.2_Intron|AGPAT9_uc003hoy.2_Intron	NM_032717	NP_116106			1-acylglycerol-3-phosphate O-acyltransferase 9						phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			skin(1)	1		Hepatocellular(203;0.114)																---	---	---	---
ARHGAP24	83478	broad.mit.edu	37	4	86893509	86893509	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86893509delA	uc003hpk.2	+						ARHGAP24_uc003hpl.2_Intron|ARHGAP24_uc010ikf.2_Intron|ARHGAP24_uc003hpm.2_Intron	NM_001025616	NP_001020787			Rho GTPase activating protein 24 isoform 1						angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)														---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89670709	89670709	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89670709delT	uc003hse.1	-						FAM13A_uc003hsa.1_Intron|FAM13A_uc003hsb.1_Intron|FAM13A_uc003hsd.1_Intron|FAM13A_uc003hsc.1_Intron|FAM13A_uc011cdq.1_Intron|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_Intron|FAM13A_uc010ikr.1_Intron	NM_014883	NP_055698			family with sequence similarity 13, member A1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2																		---	---	---	---
RAP1GDS1	5910	broad.mit.edu	37	4	99313341	99313341	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99313341delT	uc003htx.3	+						RAP1GDS1_uc003htu.2_3'UTR|RAP1GDS1_uc003htw.3_Intron|RAP1GDS1_uc003htv.3_Intron|RAP1GDS1_uc003htz.3_Intron|RAP1GDS1_uc003hty.3_Intron|RAP1GDS1_uc003hua.3_Intron	NM_001100427	NP_001093897			RAP1, GTP-GDP dissociation stimulator 1 isoform								binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)				T	NUP98	T-ALL								---	---	---	---
DAPP1	27071	broad.mit.edu	37	4	100789086	100789086	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100789086delA	uc003hvf.3	+						DAPP1_uc010ilh.2_Intron	NM_014395	NP_055210			dual adaptor of phosphotyrosine and						signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity				0				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)														---	---	---	---
MAPKSP1	8649	broad.mit.edu	37	4	100806896	100806896	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100806896delT	uc003hvg.2	-						MAPKSP1_uc003hvi.2_Intron|MAPKSP1_uc003hvh.2_Intron	NM_021970	NP_068805			MAPK scaffold protein 1						cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding				0																		---	---	---	---
EMCN	51705	broad.mit.edu	37	4	101337124	101337124	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101337124delA	uc003hvr.2	-						EMCN_uc011cel.1_Intron|EMCN_uc011cem.1_Intron	NM_016242	NP_057326			endomucin isoform 1							extracellular region|integral to membrane|plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)														---	---	---	---
PPP3CA	5530	broad.mit.edu	37	4	101984180	101984180	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101984180delT	uc011cen.1	-						PPP3CA_uc003hvu.2_Intron|PPP3CA_uc010ilj.2_Intron|PPP3CA_uc003hvt.2_Intron|PPP3CA_uc003hvs.2_Intron|PPP3CA_uc010ilk.2_Intron	NM_000944	NP_000935			protein phosphatase 3, catalytic subunit, alpha						protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)														---	---	---	---
COL25A1	84570	broad.mit.edu	37	4	109765898	109765898	+	Intron	DEL	A	-	-	rs113033840		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:109765898delA	uc003hze.1	-						COL25A1_uc003hzg.2_Intron|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_Intron	NM_198721	NP_942014			collagen, type XXV, alpha 1 isoform 1							collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)														---	---	---	---
GAR1	54433	broad.mit.edu	37	4	110739444	110739444	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110739444delT	uc003hzt.2	+						GAR1_uc003hzu.2_Intron|GAR1_uc010imh.1_Intron|GAR1_uc010imi.2_Intron	NM_018983	NP_061856			nucleolar protein family A, member 1						rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding				0																		---	---	---	---
AP1AR	55435	broad.mit.edu	37	4	113186056	113186056	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113186056delT	uc003iaj.3	+						AP1AR_uc010imm.1_Intron|AP1AR_uc003iak.3_Intron	NM_018569	NP_061039			adaptor-related protein complex 1 associated						protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle					0																		---	---	---	---
LARP7	51574	broad.mit.edu	37	4	113569801	113569801	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113569801delT	uc003iay.2	+						LARP7_uc003iaz.2_Intron|LARP7_uc003iba.2_Intron|LARP7_uc003ibb.2_Intron|uc011cfy.1_5'Flank|MIR367_hsa-mir-367|MI0000775_5'Flank|MIR302D_hsa-mir-302d|MI0000774_5'Flank|uc011cfz.1_5'Flank|MIR302A_hsa-mir-302a|MI0000738_5'Flank|MIR302C_hsa-mir-302c|MI0000773_5'Flank|MIR302B_hsa-mir-302b|MI0000772_5'Flank|uc011cga.1_5'Flank	NM_016648	NP_057732			La ribonucleoprotein domain family, member 7						RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(3)	3		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114119996	114119996	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114119996delT	uc003ibe.3	+						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Intron	NM_001148	NP_001139			ankyrin 2 isoform 1						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
ANK2	287	broad.mit.edu	37	4	114199851	114199851	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114199851delT	uc003ibe.3	+						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Intron	NM_001148	NP_001139			ankyrin 2 isoform 1						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)												OREG0016024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114274007	114274007	+	Intron	DEL	T	-	-	rs34053670	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114274007delT	uc003ibe.3	+						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Intron	NM_001148	NP_001139			ankyrin 2 isoform 1						axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119239769	119239769	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119239769delT	uc003ica.1	-							NM_003619	NP_003610			neurotrypsin precursor							membrane	scavenger receptor activity			skin(1)	1																		---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121616101	121616101	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121616101delT	uc003idn.2	-	16					PRDM5_uc003ido.2_3'UTR|PRDM5_uc010ine.2_3'UTR	NM_018699	NP_061169			PR domain containing 5						histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123314640	123314640	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123314640delA	uc003ieo.2	+						ADAD1_uc003iep.2_Intron|ADAD1_uc003ieq.2_Intron	NM_139243	NP_640336			adenosine deaminase domain containing 1						multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	4	123533754	123533755	+	IGR	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123533754_123533755delTT								IL2 (156104 upstream) : IL21 (28 downstream)																																			---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140262335	140262335	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140262335delT	uc003ihu.1	+							NM_057175	NP_476516			NMDA receptor regulated 1						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
SETD7	80854	broad.mit.edu	37	4	140441259	140441259	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140441259delA	uc003ihw.2	-							NM_030648	NP_085151			SET domain-containing protein 7						peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.156)																	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141313170	141313172	+	Intron	DEL	CTT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141313170_141313172delCTT	uc011chi.1	-						CLGN_uc003iii.2_Intron	NM_001130675	NP_001124147			calmegin precursor						protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)																	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146478799	146478799	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146478799delT	uc003ikc.2	+						SMAD1_uc003ikd.2_Intron|SMAD1_uc010iov.2_Intron|SMAD1_uc011cic.1_Intron	NM_005900	NP_005891			Sma- and Mad-related protein 1						BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)															OREG0016348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155462251	155462251	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155462251delA	uc003iny.2	-						PLRG1_uc003inz.2_Intron|PLRG1_uc011cil.1_Intron	NM_002669	NP_002660			pleiotropic regulator 1 (PRL1 homolog,							catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)																---	---	---	---
NAF1	92345	broad.mit.edu	37	4	164067106	164067106	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164067106delA	uc003iqj.2	-						NAF1_uc010iqw.1_Intron	NM_138386	NP_612395			nuclear assembly factor 1 homolog isoform a						rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			ovary(2)	2	all_hematologic(180;0.166)	Prostate(90;0.109)																---	---	---	---
C4orf43	55319	broad.mit.edu	37	4	164436769	164436769	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164436769delT	uc003iqq.3	+							NM_018352	NP_060822			hypothetical protein LOC55319												0																		---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166218560	166218560	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166218560delA	uc003irb.2	+						KLHL2_uc011cjm.1_Intron|KLHL2_uc003irc.2_Intron|KLHL2_uc010ira.2_Intron	NM_007246	NP_009177			kelch-like 2, Mayven isoform 1						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)														---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170616741	170616742	+	Intron	DEL	AT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170616741_170616742delAT	uc003isi.2	+						CLCN3_uc003ish.2_Intron|CLCN3_uc011cjz.1_Intron|CLCN3_uc011cka.1_Intron|CLCN3_uc003isj.1_Intron	NM_001829	NP_001820			chloride channel 3 isoform b						endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)														---	---	---	---
KIAA1712	80817	broad.mit.edu	37	4	175238739	175238739	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:175238739delT	uc003itr.2	+	12					KIAA1712_uc010iro.2_Intron|KIAA1712_uc003its.2_RNA	NM_001040157	NP_001035247			HBV PreS1-transactivated protein 3 isoform a							centrosome|midbody|spindle pole					0		Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949)														---	---	---	---
GLRA3	8001	broad.mit.edu	37	4	175598519	175598519	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:175598519delT	uc003ity.1	-						GLRA3_uc003itz.1_Intron	NM_006529	NP_006520			glycine receptor, alpha 3 isoform a						synaptic transmission	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(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)													---	---	---	---
AHRR	57491	broad.mit.edu	37	5	413763	413764	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:413763_413764insT	uc003jav.2	+						AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron	NM_020731	NP_065782			arylhydrocarbon receptor repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)															---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5457380	5457381	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5457380_5457381delTT	uc003jdm.3	+							NM_015325	NP_056140			hypothetical protein LOC23379											ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7885676	7885676	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7885676delT	uc003jed.2	+						MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Intron|MTRR_uc003jef.3_Intron|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_Intron	NM_024010	NP_076915			methionine synthase reductase isoform 2						methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)													---	---	---	---
C5orf22	55322	broad.mit.edu	37	5	31553181	31553181	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31553181delT	uc003jhj.3	+	9					C5orf22_uc003jhk.3_3'UTR|C5orf22_uc010iuj.2_3'UTR	NM_018356	NP_060826			hypothetical protein LOC55322											ovary(2)	2																		---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31823262	31823274	+	Intron	DEL	AAAAAAAAAAAAA	-	-	rs148984437		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31823262_31823274delAAAAAAAAAAAAA	uc003jhl.2	+						PDZD2_uc003jhm.2_Intron	NM_178140	NP_835260			PDZ domain containing 2						cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32073714	32073714	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32073714delG	uc003jhl.2	+						PDZD2_uc003jhm.2_Intron|PDZD2_uc011cnx.1_Intron	NM_178140	NP_835260			PDZ domain containing 2						cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
DNAJC21	134218	broad.mit.edu	37	5	34944824	34944824	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34944824delA	uc003jjc.2	+						DNAJC21_uc003jjb.2_Intron|DNAJC21_uc010iuu.1_Intron|DNAJC21_uc003jjd.2_5'Flank	NM_001012339	NP_001012339			DnaJ homology subfamily A member 5 isoform 2						protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)															---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37166985	37166985	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37166985delT	uc011cpa.1	-						C5orf42_uc011coy.1_Intron|C5orf42_uc003jks.2_Intron|C5orf42_uc011coz.1_Intron	NM_023073	NP_075561			hypothetical protein LOC65250											ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)															---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37752732	37752732	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37752732delT	uc003jkv.2	+	18						NM_018034	NP_060504			WD repeat domain 70											ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
Unknown	0	broad.mit.edu	37	5	41967157	41967157	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41967157delA								FBXO4 (25494 upstream) : GHR (456869 downstream)																																			---	---	---	---
NNT	23530	broad.mit.edu	37	5	43659063	43659063	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43659063delT	uc003joe.2	+						NNT_uc003jof.2_Intron	NM_012343	NP_036475			nicotinamide nucleotide transhydrogenase						tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50073873	50073874	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50073873_50073874insA	uc003jon.3	+						PARP8_uc011cpz.1_Intron|PARP8_uc003joo.2_Intron|PARP8_uc003jop.2_Intron	NM_024615	NP_078891			poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)																---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50092777	50092778	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50092777_50092778insA	uc003jon.3	+						PARP8_uc011cpz.1_Intron|PARP8_uc003joo.2_Intron|PARP8_uc003jop.2_Intron	NM_024615	NP_078891			poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)																---	---	---	---
GZMA	3001	broad.mit.edu	37	5	54398401	54398401	+	5'Flank	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54398401delA	uc003jpm.2	+							NM_006144	NP_006135			granzyme A precursor						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)																---	---	---	---
C5orf44	80006	broad.mit.edu	37	5	64954408	64954408	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64954408delT	uc003jtz.3	+						C5orf44_uc003jua.3_Intron|C5orf44_uc003juc.3_Intron|C5orf44_uc010iwv.2_Intron	NM_024941	NP_079217			hypothetical protein LOC80006 isoform 2											ovary(1)	1																		---	---	---	---
MARVELD2	153562	broad.mit.edu	37	5	68736189	68736189	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:68736189delT	uc003jwq.2	+						MARVELD2_uc010ixf.2_Intron|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692			MARVEL domain containing 2 isoform 1						sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)														---	---	---	---
MARVELD2	153562	broad.mit.edu	37	5	68737186	68737187	+	Intron	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:68737186_68737187delAA	uc003jwq.2	+						MARVELD2_uc010ixf.2_Intron|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692			MARVEL domain containing 2 isoform 1						sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)														---	---	---	---
FCHO2	115548	broad.mit.edu	37	5	72264329	72264329	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72264329delA	uc003kcl.2	+	2	154	c.38delA	c.(37-39)GAAfs	p.E13fs	FCHO2_uc011csl.1_Frame_Shift_Del_p.E13fs|FCHO2_uc011csk.1_Frame_Shift_Del_p.E13fs	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2 isoform a	13	FCH.									ovary(1)	1		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)														---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	76003254	76003254	+	3'UTR	DEL	A	-	-	rs463188	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76003254delA	uc003kek.2	+	36					IQGAP2_uc011csv.1_3'UTR|IQGAP2_uc003kel.2_3'UTR	NM_006633	NP_006624			IQ motif containing GTPase activating protein 2						small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
LYSMD3	116068	broad.mit.edu	37	5	89821125	89821125	+	Intron	DEL	A	-	-	rs13361350	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89821125delA	uc003kjr.2	-						LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Intron	NM_198273	NP_938014			LysM, putative peptidoglycan-binding, domain						cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89933829	89933829	+	Intron	DEL	T	-	-	rs72382716		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89933829delT	uc003kju.2	+						GPR98_uc003kjt.2_Intron	NM_032119	NP_115495			G protein-coupled receptor 98 precursor						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90106038	90106038	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90106038delT	uc003kju.2	+						GPR98_uc003kjt.2_Intron|GPR98_uc003kjw.2_Intron	NM_032119	NP_115495			G protein-coupled receptor 98 precursor						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101748695	101748695	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101748695delT	uc003knn.2	-	9	1797	c.1625delA	c.(1624-1626)AAGfs	p.K542fs	SLCO6A1_uc003kno.2_Frame_Shift_Del_p.K289fs|SLCO6A1_uc003knp.2_Frame_Shift_Del_p.K542fs|SLCO6A1_uc003knq.2_Frame_Shift_Del_p.K480fs	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	542	Extracellular (Potential).|Kazal-like.					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)														---	---	---	---
ATG12	9140	broad.mit.edu	37	5	115173167	115173167	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115173167delA	uc003krh.2	-						ATG12_uc003kri.2_Intron|ATG12_uc003krj.2_Intron	NM_004707	NP_004698			APG12 autophagy 12-like						autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)														---	---	---	---
AQPEP	206338	broad.mit.edu	37	5	115329414	115329414	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115329414delT	uc003kro.2	+						AQPEP_uc003krp.2_Intron|AQPEP_uc003krq.2_5'Flank|AQPEP_uc003krr.2_5'Flank|AQPEP_uc003krs.2_5'Flank	NM_173800	NP_776161			laeverin						proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0																		---	---	---	---
AQPEP	206338	broad.mit.edu	37	5	115339264	115339264	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115339264delG	uc003kro.2	+						AQPEP_uc003krp.2_Intron|AQPEP_uc003krq.2_Intron|AQPEP_uc003krr.2_Intron|AQPEP_uc003krs.2_Intron	NM_173800	NP_776161			laeverin						proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0																		---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118437568	118437569	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118437568_118437569insT	uc003ksd.2	+						DMXL1_uc010jcl.1_Intron|DMXL1_uc003ksc.1_Intron	NM_005509	NP_005500			Dmx-like 1											ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127607500	127607500	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127607500delT	uc003kuu.2	-							NM_001999	NP_001990			fibrillin 2 precursor						bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131914905	131914905	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131914905delT	uc003kxi.2	+						RAD50_uc003kxg.1_Intron|RAD50_uc003kxh.2_Intron	NM_005732	NP_005723			RAD50 homolog isoform 1						DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)										Homologous_recombination					---	---	---	---
KLHL3	26249	broad.mit.edu	37	5	136972883	136972883	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:136972883delA	uc010jek.2	-						KLHL3_uc011cyc.1_Intron|KLHL3_uc003lbr.3_Intron|KLHL3_uc011cyd.1_Intron|KLHL3_uc010jel.1_Intron	NM_017415	NP_059111			kelch-like 3							cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)														---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137713621	137713621	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137713621delT	uc003lcy.1	+						KDM3B_uc010jew.1_Intron	NM_016604	NP_057688			jumonji domain containing 1B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11																		---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140803318	140803319	+	Intron	DEL	GG	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140803318_140803319delGG	uc003lkq.1	+						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_3'UTR|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank	NM_018914	NP_061737			protocadherin gamma subfamily A, 11 isoform 1						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)															---	---	---	---
SPINK7	84651	broad.mit.edu	37	5	147695441	147695441	+	3'UTR	DEL	T	-	-	rs74351593		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147695441delT	uc003lpd.2	+	4					uc003lpb.1_Intron	NM_032566	NP_115955			serine peptidase inhibitor, Kazal type 7							extracellular region	protein binding|serine-type endopeptidase inhibitor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
MYOZ3	91977	broad.mit.edu	37	5	150051079	150051079	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150051079delT	uc003lss.2	+						MYOZ3_uc003lsr.2_Intron	NM_001122853	NP_001116325			myozenin 3							sarcomere	protein binding			skin(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
MFAP3	4238	broad.mit.edu	37	5	153432331	153432331	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153432331delT	uc003lvf.2	+						MFAP3_uc010jib.2_Intron|MFAP3_uc011ddb.1_Intron	NM_001135037	NP_001128509			microfibrillar-associated protein 3 isoform 2							integral to membrane|plasma membrane					0	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)														---	---	---	---
ITK	3702	broad.mit.edu	37	5	156659230	156659230	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156659230delT	uc003lwo.1	+							NM_005546	NP_005537			IL2-inducible T-cell kinase						cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)					T	SYK	peripheral T-cell lymphoma								---	---	---	---
C1QTNF2	114898	broad.mit.edu	37	5	159776084	159776084	+	3'UTR	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159776084delC	uc003lyd.2	-	3						NM_031908	NP_114114			C1q and tumor necrosis factor related protein 2							collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
SLU7	10569	broad.mit.edu	37	5	159833770	159833770	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159833770delA	uc003lyg.2	-							NM_006425	NP_006416			step II splicing factor SLU7						alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			ovary(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
FAF2	23197	broad.mit.edu	37	5	175913675	175913675	+	Intron	DEL	T	-	-	rs5873535		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:175913675delT	uc003mej.3	+							NM_014613	NP_055428			UBX domain containing 8						response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1																		---	---	---	---
FGFR4	2264	broad.mit.edu	37	5	176520905	176520905	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176520905delA	uc003mfl.2	+						FGFR4_uc003mfm.2_Intron|FGFR4_uc011dfu.1_Intron|FGFR4_uc003mfo.2_Intron	NM_002011	NP_002002			fibroblast growth factor receptor 4 isoform 1						insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)										TSP Lung(9;0.080)			---	---	---	---
GFPT2	9945	broad.mit.edu	37	5	179729287	179729288	+	Intron	DEL	AA	-	-	rs34163399		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179729287_179729288delAA	uc003mlw.1	-							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)													---	---	---	---
Unknown	0	broad.mit.edu	37	5	180394138	180394138	+	IGR	DEL	T	-	-	rs113766077		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180394138delT								BTNL8 (16234 upstream) : BTNL3 (21763 downstream)																																			---	---	---	---
DSP	1832	broad.mit.edu	37	6	7566455	7566455	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7566455delA	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
SLC35B3	51000	broad.mit.edu	37	6	8434774	8434774	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:8434774delT	uc010joe.2	-						uc003mye.2_5'Flank|SLC35B3_uc003myc.2_Intron|SLC35B3_uc003myb.2_Intron|SLC35B3_uc011did.1_Intron|SLC35B3_uc003myd.2_Intron|SLC35B3_uc010jof.2_Intron|SLC35B3_uc011die.1_Intron	NM_001142541	NP_001136013			solute carrier family 35, member B3						transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)																	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	12718911	12718911	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:12718911delT	uc010jpc.2	+						PHACTR1_uc011dir.1_Intron|PHACTR1_uc003nag.1_Intron|PHACTR1_uc003nah.1_Intron|PHACTR1_uc003nai.2_Intron	NM_030948	NP_112210			phosphatase and actin regulator 1							cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)															---	---	---	---
SIRT5	23408	broad.mit.edu	37	6	13584591	13584591	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13584591delT	uc003nay.2	+						SIRT5_uc003naw.2_Intron|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Intron	NM_012241	NP_036373			sirtuin 5 isoform 1						chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)													---	---	---	---
SCGN	10590	broad.mit.edu	37	6	25689981	25689981	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25689981delT	uc003nfb.2	+						SCGN_uc010jpz.2_Intron	NM_006998	NP_008929			secretagogin precursor							extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33377634	33377635	+	3'UTR	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33377634_33377635insT	uc003oef.3	+	11					KIFC1_uc011drf.1_3'UTR|PHF1_uc011drh.1_5'Flank|PHF1_uc003oeh.2_5'Flank|PHF1_uc003oei.2_5'Flank|PHF1_uc010jux.2_5'Flank	NM_002263	NP_002254			kinesin family member C1						blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	6	34158925	34158925	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34158925delA								GRM4 (45056 upstream) : HMGA1 (45652 downstream)																																			---	---	---	---
NFYA	4800	broad.mit.edu	37	6	41057863	41057863	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41057863delT	uc003opo.2	+						NFYA_uc003opp.2_Intron|NFYA_uc003opq.2_Intron	NM_002505	NP_002496			nuclear transcription factor Y, alpha isoform 1						transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---
MRPL2	51069	broad.mit.edu	37	6	43021911	43021912	+	3'UTR	DEL	AA	-	-	rs79913628		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43021911_43021912delAA	uc003ots.1	-	7					CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034			mitochondrial ribosomal protein L2 precursor						translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)														---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43310013	43310013	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43310013delT	uc003oux.2	-						ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160			zinc finger protein 318						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)															---	---	---	---
CENPQ	55166	broad.mit.edu	37	6	49440671	49440671	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49440671delT	uc003ozh.1	+							NM_018132	NP_060602			centromere protein Q						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				ovary(2)	2	Lung NSC(77;0.0128)																	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50805449	50805449	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50805449delT	uc003pag.2	+							NM_003221	NP_003212			transcription factor AP-2 beta						nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51604584	51604584	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51604584delT	uc003pah.1	-						PKHD1_uc010jzn.1_Intron|PKHD1_uc003pai.2_Intron	NM_138694	NP_619639			fibrocystin isoform 1						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)																	---	---	---	---
DST	667	broad.mit.edu	37	6	56497994	56497994	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56497994delT	uc003pdf.2	-						DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Intron|DST_uc003pdd.3_Intron	NM_001144769	NP_001138241			dystonin isoform 2						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
Unknown	0	broad.mit.edu	37	6	63258234	63258235	+	IGR	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:63258234_63258235delAA								KHDRBS2 (262134 upstream) : LGSN (727622 downstream)																																			---	---	---	---
BAI3	577	broad.mit.edu	37	6	70049069	70049069	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70049069delA	uc003pev.3	+						BAI3_uc010kak.2_Intron|BAI3_uc011dxx.1_Intron|BAI3_uc003pex.1_Intron	NM_001704	NP_001695			brain-specific angiogenesis inhibitor 3						negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72952000	72952000	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72952000delT	uc003pga.2	+						RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgb.3_Intron|RIMS1_uc010kas.1_Intron	NM_014989	NP_055804			regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---
PGM3	5238	broad.mit.edu	37	6	83900377	83900378	+	Intron	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83900377_83900378delAA	uc003pjv.2	-						PGM3_uc003pjw.2_Intron|PGM3_uc011dyz.1_Intron|RWDD2A_uc003pjx.3_5'Flank|RWDD2A_uc011dza.1_5'Flank	NM_015599	NP_056414			phosphoglucomutase 3						dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)														---	---	---	---
SLC35A1	10559	broad.mit.edu	37	6	88220956	88220956	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88220956delT	uc011dzj.1	+						SLC35A1_uc003plx.2_Intron|SLC35A1_uc010kbw.2_Intron|SLC35A1_uc003plz.2_Intron|SLC35A1_uc011dzi.1_Intron|SLC35A1_uc003ply.2_Intron|SLC35A1_uc010kbx.2_Intron|SLC35A1_uc010kby.2_Intron	NM_006416	NP_006407			solute carrier family 35 (CMP-sialic acid						carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity				0		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89888394	89888394	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89888394delT	uc003pna.2	-	10					GABRR1_uc011dzv.1_3'UTR	NM_002042	NP_002033			gamma-aminobutyric acid (GABA) receptor, rho 1						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)													---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91256871	91256871	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:91256871delA	uc003pnz.1	-						MAP3K7_uc003poa.1_Intron|MAP3K7_uc003pob.1_Intron|MAP3K7_uc003poc.1_Intron	NM_145331	NP_663304			mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|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 interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---
Unknown	0	broad.mit.edu	37	6	95153181	95153182	+	IGR	INS	-	T	T	rs112693954		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:95153181_95153182insT								TSG1 (666982 upstream) : MANEA (872231 downstream)																																			---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105219640	105219640	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105219640delT	uc003pqu.1	-						HACE1_uc010kcy.1_Intron|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Intron|HACE1_uc003pqt.1_Intron	NM_020771	NP_065822			HECT domain and ankyrin repeat containing, E3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)														---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105280774	105280774	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105280774delA	uc003pqu.1	-						HACE1_uc010kcy.1_Intron|HACE1_uc010kcz.1_Intron	NM_020771	NP_065822			HECT domain and ankyrin repeat containing, E3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)														---	---	---	---
TUBE1	51175	broad.mit.edu	37	6	112407649	112407649	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112407649delA	uc003pvq.2	-						TUBE1_uc003pvr.2_Intron|C6orf225_uc003pvs.2_5'Flank	NM_016262	NP_057346			tubulin, epsilon 1						centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			ovary(1)	1		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)														---	---	---	---
MCM9	254394	broad.mit.edu	37	6	119245424	119245424	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119245424delA	uc003pyh.2	-							NM_153255	NP_694987			minichromosome maintenance complex component 9						DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			ovary(1)	1		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)														---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130387432	130387433	+	Intron	DEL	TA	-	-	rs66543366		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130387432_130387433delTA	uc003qbt.2	+						L3MBTL3_uc003qbu.2_Intron	NM_032438	NP_115814			l(3)mbt-like 3 isoform a						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---
FAM54A	113115	broad.mit.edu	37	6	136563816	136563816	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136563816delA	uc010kgp.1	-						FAM54A_uc003qgt.1_Intron|FAM54A_uc003qgu.1_Intron	NM_001099286	NP_001092756			DUF729 domain containing 1											skin(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)														---	---	---	---
FAM54A	113115	broad.mit.edu	37	6	136566111	136566111	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136566111delT	uc010kgp.1	-						FAM54A_uc003qgt.1_Intron|FAM54A_uc003qgu.1_Intron	NM_001099286	NP_001092756			DUF729 domain containing 1											skin(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)														---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136596612	136596612	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136596612delT	uc003qgx.1	-						BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Intron|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Intron|BCLAF1_uc011ede.1_Intron	NM_014739	NP_055554			BCL2-associated transcription factor 1 isoform						induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)														---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139135838	139135838	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139135838delA	uc003qif.1	+						ECT2L_uc011edq.1_Intron	NM_001077706	NP_001071174			epithelial cell transforming sequence 2						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144796037	144796037	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144796037delA	uc003qkt.2	+						UTRN_uc010khq.1_Intron	NM_007124	NP_009055			utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144843999	144843999	+	Intron	DEL	A	-	-	rs150930485		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144843999delA	uc003qkt.2	+							NM_007124	NP_009055			utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147583348	147583348	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147583348delT	uc003qlz.2	+						STXBP5_uc010khz.1_Intron|STXBP5_uc003qlx.2_Intron|STXBP5_uc003qly.2_Intron	NM_001127715	NP_001121187			syntaxin binding protein 5 (tomosyn) isoform b						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)														---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149847587	149847588	+	Intron	DEL	TG	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149847587_149847588delTG	uc003qmo.1	-						PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Intron	NM_139126	NP_624311			peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149856013	149856013	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149856013delA	uc003qmo.1	-						PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Intron	NM_139126	NP_624311			peptidylprolyl isomerase-like 4						protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
TMEM181	57583	broad.mit.edu	37	6	159004835	159004835	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159004835delA	uc003qrm.3	+						TMEM181_uc010kjr.1_Intron|TMEM181_uc003qri.1_Intron|TMEM181_uc003qrj.1_Intron|TMEM181_uc003qrk.1_Intron	NM_020823	NP_065874			G protein-coupled receptor 178						pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)														---	---	---	---
TAGAP	117289	broad.mit.edu	37	6	159459426	159459427	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159459426_159459427delTT	uc003qrz.2	-						TAGAP_uc011eft.1_Intron|TAGAP_uc003qsa.2_Intron	NM_054114	NP_473455			T-cell activation Rho GTPase-activating protein						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)														---	---	---	---
QKI	9444	broad.mit.edu	37	6	163987695	163987695	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:163987695delT	uc003qui.2	+						QKI_uc003que.2_3'UTR|QKI_uc003quf.2_3'UTR|QKI_uc003qug.2_3'UTR|QKI_uc003quh.2_3'UTR|QKI_uc003quj.2_Intron	NM_006775	NP_006766			quaking homolog, KH domain RNA binding isoform						mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)														---	---	---	---
SFT2D1	113402	broad.mit.edu	37	6	166736178	166736184	+	Intron	DEL	AAAAAAA	-	-	rs71693661		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166736178_166736184delAAAAAAA	uc003qux.2	-							NM_145169	NP_660152			SFT2 domain containing 1						protein transport|vesicle-mediated transport	integral to membrane				central_nervous_system(1)	1		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)														---	---	---	---
WIPI2	26100	broad.mit.edu	37	7	5232565	5232565	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5232565delT	uc003snv.2	+						WIPI2_uc003snw.2_Intron|WIPI2_uc003snx.2_Intron|WIPI2_uc003sny.2_Intron|WIPI2_uc010ksv.2_Intron	NM_015610	NP_056425			WD repeat domain, phosphoinositide interacting 2						autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)														---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6022753	6022753	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6022753delT	uc003spl.2	-						PMS2_uc003spj.2_Intron|PMS2_uc003spk.2_Intron|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_Intron|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron	NM_000535	NP_000526			PMS2 postmeiotic segregation increased 2 isoform						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)				Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6036896	6036896	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6036896delA	uc003spl.2	-						PMS2_uc003spj.2_Intron|PMS2_uc003spk.2_Intron|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_Intron|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Intron	NM_000535	NP_000526			PMS2 postmeiotic segregation increased 2 isoform						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)				Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
Unknown	0	broad.mit.edu	37	7	6907086	6907086	+	IGR	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6907086delG								C7orf28B (41225 upstream) : C1GALT1 (315160 downstream)																																			---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11142222	11142223	+	3'UTR	INS	-	AT	AT			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11142222_11142223insAT	uc003sry.1	+	17					PHF14_uc011jxi.1_3'UTR|PHF14_uc003srz.2_Intron|PHF14_uc011jxj.1_Intron	NM_014660	NP_055475			PHD finger protein 14 isoform 2								zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	20042879	20042880	+	IGR	DEL	AA	-	-	rs34222141		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20042879_20042880delAA								TMEM196 (229663 upstream) : MACC1 (131408 downstream)																																			---	---	---	---
STK31	56164	broad.mit.edu	37	7	23766955	23766955	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23766955delT	uc003sws.3	+						STK31_uc003swt.3_Intron|STK31_uc011jze.1_Intron|STK31_uc010kuq.2_Intron	NM_031414	NP_113602			serine/threonine kinase 31 isoform a								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24903320	24903320	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:24903320delT	uc003sxf.2	-						OSBPL3_uc003sxd.2_Intron|OSBPL3_uc003sxe.2_Intron|OSBPL3_uc003sxg.2_Intron|OSBPL3_uc003sxh.2_Intron|OSBPL3_uc003sxi.2_Intron|OSBPL3_uc003sxj.1_5'Flank|OSBPL3_uc003sxk.1_5'Flank	NM_015550	NP_056365			oxysterol-binding protein-like protein 3 isoform						lipid transport		lipid binding|protein binding			skin(1)	1																		---	---	---	---
GARS	2617	broad.mit.edu	37	7	30662267	30662268	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30662267_30662268delTT	uc003tbm.2	+							NM_002047	NP_002038			glycyl-tRNA synthetase						cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)													---	---	---	---
DPY19L2P1	554236	broad.mit.edu	37	7	35131318	35131318	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:35131318delT	uc003teq.1	-						DPY19L2P1_uc003tep.1_Intron|DPY19L2P1_uc010kwz.1_Intron					RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2;												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	35807609	35807609	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:35807609delT								HERPUD2 (72837 upstream) : SEPT7 (33018 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	38695693	38695693	+	IGR	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38695693delG								AMPH (24673 upstream) : FAM183B (29254 downstream)																																			---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39246850	39246850	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:39246850delT	uc003thb.1	+						POU6F2_uc010kxo.2_Intron	NM_007252	NP_009183			POU class 6 homeobox 2 isoform 1						central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1																		---	---	---	---
ZMIZ2	83637	broad.mit.edu	37	7	44804525	44804525	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44804525delT	uc003tlr.2	+						ZMIZ2_uc003tlq.2_Intron|ZMIZ2_uc003tls.2_Intron|ZMIZ2_uc003tlt.2_Intron|ZMIZ2_uc010kyj.2_Intron|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637			zinc finger, MIZ-type containing 2 isoform 1						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5																		---	---	---	---
DDC	1644	broad.mit.edu	37	7	50605685	50605685	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50605685delG	uc003tpf.3	-						DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Intron	NM_000790	NP_000781			dopa decarboxylase (aromatic L-amino acid						cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)													---	---	---	---
LOC442308	442308	broad.mit.edu	37	7	55713246	55713246	+	5'Flank	DEL	A	-	-	rs77079107		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55713246delA	uc010kzj.2	+							NR_003598				Homo sapiens similar to tubulin, beta 5 (LOC442308), non-coding RNA.												0																		---	---	---	---
PSPH	5723	broad.mit.edu	37	7	56082636	56082637	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56082636_56082637insA	uc003trg.2	-						PSPH_uc003trh.2_Intron|PSPH_uc003tri.2_Intron|PSPH_uc003trj.2_Intron	NM_004577	NP_004568			phosphoserine phosphatase						L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
Unknown	0	broad.mit.edu	37	7	62517999	62517999	+	IGR	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:62517999delG								None (None upstream) : LOC643955 (233673 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	65222951	65222951	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65222951delT	uc003tud.1	-						CCT6P1_uc003tug.2_Intron|CCT6P1_uc003tuh.2_Intron|CCT6P1_uc003tui.2_Intron|uc003tuk.1_5'Flank					Homo sapiens hypothetical LOC441242, mRNA (cDNA clone MGC:87648 IMAGE:5267764), complete cds.																														---	---	---	---
FKBP6	8468	broad.mit.edu	37	7	72694266	72694266	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72694266delT	uc003twz.2	+						uc003txt.2_Intron	NM_001135211	NP_001128683			FK506 binding protein 6 isoform b						protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)																---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73520765	73520765	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73520765delA	uc003uaa.1	+						RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_Intron|LIMK1_uc003uab.2_Intron|LIMK1_uc003uac.1_Intron	NM_002314	NP_002305			LIM domain kinase 1						actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)																---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	74005523	74005523	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:74005523delT	uc003uaq.2	+						GTF2IRD1_uc010lbq.2_Intron|GTF2IRD1_uc003uap.2_Intron|GTF2IRD1_uc003uar.1_Intron	NM_016328	NP_057412			GTF2I repeat domain containing 1 isoform 1							nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---
TRIM74	378108	broad.mit.edu	37	7	75034218	75034218	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75034218delG	uc003udc.1	+	4	792	c.592delG	c.(592-594)GGGfs	p.G198fs	TRIM74_uc010ldc.2_Frame_Shift_Del_p.G198fs|TRIM74_uc010ldd.2_Frame_Shift_Del_p.G198fs	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN	tripartite motif-containing 73	198						intracellular	zinc ion binding				0																		---	---	---	---
CCDC146	57639	broad.mit.edu	37	7	76908051	76908051	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76908051delT	uc003uga.2	+						CCDC146_uc010ldp.2_Intron	NM_020879	NP_065930			coiled-coil domain containing 146											ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)																---	---	---	---
PTPN12	5782	broad.mit.edu	37	7	77264933	77264933	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77264933delT	uc003ugh.2	+						PTPN12_uc011kgp.1_Intron|PTPN12_uc011kgq.1_Intron|PTPN12_uc010lds.2_Intron	NM_002835	NP_002826			protein tyrosine phosphatase, non-receptor type							soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3																		---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87516630	87516630	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87516630delT	uc003ujf.1	+						DBF4_uc003ujh.1_Intron|DBF4_uc003ujg.1_Intron|DBF4_uc011khf.1_Intron	NM_006716	NP_006707			activator of S phase kinase						cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)																---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107749452	107749452	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107749452delT	uc010ljo.1	-						LAMB4_uc003vey.2_Intron	NM_007356	NP_031382			laminin, beta 4 precursor						cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117400810	117400810	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117400810delA	uc003vjf.2	-							NM_033427	NP_219499			cortactin binding protein 2											ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
NAA38	51691	broad.mit.edu	37	7	117828135	117828135	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117828135delC	uc003vjg.2	+							NM_016200	NP_057284			U6 snRNA-associated Sm-like protein LSm8						nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding				0																		---	---	---	---
AASS	10157	broad.mit.edu	37	7	121754958	121754958	+	Intron	DEL	A	-	-	rs56052527	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121754958delA	uc003vka.2	-						AASS_uc011knu.1_Intron|AASS_uc011knv.1_Intron|AASS_uc003vkb.2_Intron|AASS_uc011knw.1_Intron	NM_005763	NP_005754			aminoadipate-semialdehyde synthase precursor						protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122337666	122337666	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122337666delA	uc010lkp.2	-						CADPS2_uc010lkq.2_Intron	NM_017954	NP_060424			Ca2+-dependent activator protein for secretion 2						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122811637	122811637	+	Intron	DEL	T	-	-	rs147641390	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122811637delT	uc003vkm.2	-						SLC13A1_uc010lks.2_Intron	NM_022444	NP_071889			solute carrier family 13 (sodium/sulfate							integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)													---	---	---	---
UBN2	254048	broad.mit.edu	37	7	138969521	138969522	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138969521_138969522delTT	uc011kqr.1	+							NM_173569	NP_775840			ubinuclein 2											ovary(1)|skin(1)	2																		---	---	---	---
JHDM1D	80853	broad.mit.edu	37	7	139820179	139820179	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139820179delA	uc003vvm.2	-						JHDM1D_uc010lng.2_5'Flank	NM_030647	NP_085150			jumonji C domain containing histone demethylase						midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)																	---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148529947	148529947	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148529947delA	uc003wfd.1	-						EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Intron|EZH2_uc003wfc.1_Intron|EZH2_uc011kuh.1_Intron|EZH2_uc011kui.1_Intron|EZH2_uc011kuj.1_Intron	NM_004456	NP_004447			enhancer of zeste 2 isoform a						negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)					Mis		DLBCL								---	---	---	---
TMEM176A	55365	broad.mit.edu	37	7	150499164	150499165	+	Intron	INS	-	TTCTC	TTCTC	rs137988135		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150499164_150499165insTTCTC	uc003whx.1	+						TMEM176B_uc003whu.3_5'Flank|TMEM176B_uc003whv.3_5'Flank|TMEM176B_uc003whw.3_5'Flank	NM_018487	NP_060957			hepatocellular carcinoma-associated antigen 112							integral to membrane				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
ATG9B	285973	broad.mit.edu	37	7	150719079	150719080	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150719079_150719080delTT	uc011kvc.1	-						ATG9B_uc003wig.3_Intron	NM_173681	NP_775952			ATG9 autophagy related 9 homolog B						autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151961982	151961982	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151961982delT	uc003wla.2	-							NM_170606	NP_733751			myeloid/lymphoid or mixed-lineage leukemia 3						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155473256	155473256	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155473256delT	uc010lqk.1	+						RBM33_uc003wme.2_Intron	NM_053043	NP_444271			RNA binding motif protein 33								nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3224464	3224467	+	Intron	DEL	ACAC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3224464_3224467delACAC	uc011kwk.1	-						CSMD1_uc011kwj.1_Intron|CSMD1_uc003wqe.2_Intron	NM_033225	NP_150094			CUB and Sushi multiple domains 1 precursor							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
FAM66D	100132923	broad.mit.edu	37	8	12397630	12397631	+	Intron	INS	-	A	A	rs144512072	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12397630_12397631insA	uc011kxp.1	+						uc003wvm.1_Intron|uc003wvv.2_Intron|uc003wvw.1_Intron|uc003wvx.1_Intron|uc003wvy.3_Intron					Homo sapiens cDNA FLJ37098 fis, clone BRACE2019004.												0																		---	---	---	---
C8orf79	57604	broad.mit.edu	37	8	12879694	12879695	+	3'UTR	INS	-	T	T	rs146268183	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12879694_12879695insT	uc010lsq.2	+	5					C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_3'UTR|C8orf79_uc010lsr.2_3'UTR	NM_020844	NP_065895			hypothetical protein LOC57604 isoform 1								methyltransferase activity				0																		---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17820599	17820599	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17820599delA	uc003wyi.3	+						PCM1_uc011kyh.1_Intron|PCM1_uc003wyj.3_Intron	NM_006197	NP_006188			pericentriolar material 1						centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)				T	RET|JAK2	papillary thyroid|CML|MPD								---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19679868	19679868	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19679868delA	uc003wzj.2	+							NM_018142	NP_060612			integrator complex subunit 10						snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25708397	25708397	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25708397delA	uc003xes.1	-						PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_Intron	NM_022659	NP_073150			early B-cell factor 2						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)														---	---	---	---
TACC1	6867	broad.mit.edu	37	8	38683083	38683083	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38683083delT	uc010lwp.2	+						TACC1_uc011lby.1_Intron|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Intron|TACC1_uc003xmc.3_Intron|TACC1_uc011lbz.1_Intron|TACC1_uc003xmb.3_Intron|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Intron|TACC1_uc011lcb.1_Intron|TACC1_uc011lcc.1_Intron|TACC1_uc011lcd.1_Intron|TACC1_uc003xmh.3_Intron|TACC1_uc010lwq.2_Intron	NM_006283	NP_006274			transforming, acidic coiled-coil containing						cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)															---	---	---	---
ADAM32	203102	broad.mit.edu	37	8	39014993	39014993	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39014993delT	uc003xmt.3	+						ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	NM_145004	NP_659441			a disintegrin and metalloprotease domain 32						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)															---	---	---	---
HGSNAT	138050	broad.mit.edu	37	8	43025715	43025715	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:43025715delT	uc003xpx.3	+							NM_152419	NP_689632			heparan-alpha-glucosaminide N-acetyltransferase						lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)															---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51363429	51363429	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:51363429delA	uc010lxy.1	+						SNTG1_uc003xqs.1_Intron|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_Intron	NM_018967	NP_061840			syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)																---	---	---	---
Unknown	0	broad.mit.edu	37	8	54445840	54445840	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54445840delA								OPRK1 (281646 upstream) : ATP6V1H (182276 downstream)																																			---	---	---	---
LYPLA1	10434	broad.mit.edu	37	8	54965403	54965403	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54965403delA	uc003xry.2	-						LYPLA1_uc011ldx.1_Intron|LYPLA1_uc003xrz.2_Intron	NM_006330	NP_006321			lysophospholipase 1						fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)															---	---	---	---
LYPLA1	10434	broad.mit.edu	37	8	55013706	55013706	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55013706delG	uc003xry.2	-						LYPLA1_uc011ldx.1_Intron|LYPLA1_uc003xrz.2_Intron	NM_006330	NP_006321			lysophospholipase 1						fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)															---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68005725	68005725	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68005725delT	uc003xxi.2	+						CSPP1_uc003xxg.1_Intron|CSPP1_uc003xxh.1_Intron|CSPP1_uc003xxj.2_Intron|CSPP1_uc003xxk.2_Intron	NM_001077204	NP_001070672			centrosome spindle pole associated protein 1							centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---
GDAP1	54332	broad.mit.edu	37	8	75276043	75276043	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:75276043delT	uc003yah.2	+						GDAP1_uc011lfj.1_Intron|GDAP1_uc003yai.2_Intron	NM_018972	NP_061845			ganglioside-induced differentiation-associated							cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)															---	---	---	---
NECAB1	64168	broad.mit.edu	37	8	91937903	91937904	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91937903_91937904insT	uc011lgg.1	+							NM_022351	NP_071746			N-terminal EF-hand calcium binding protein 1						antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)															---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92364307	92364308	+	Intron	INS	-	TT	TT	rs80206690		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92364307_92364308insTT	uc003yex.2	+						SLC26A7_uc003yey.2_Intron|SLC26A7_uc003yez.2_Intron|SLC26A7_uc003yfa.2_Intron	NM_052832	NP_439897			solute carrier family 26, member 7 isoform a							basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)															---	---	---	---
CCNE2	9134	broad.mit.edu	37	8	95894896	95894896	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95894896delT	uc003yhc.2	-						CCNE2_uc003yhd.2_Intron	NM_057749	NP_477097			cyclin E2						cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)																	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100403604	100403604	+	Intron	DEL	A	-	-	rs74650444		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100403604delA	uc003yiv.2	+						VPS13B_uc003yiw.2_Intron|VPS13B_uc003yiu.1_Intron|VPS13B_uc003yix.1_Intron	NM_017890	NP_060360			vacuolar protein sorting 13B isoform 5						protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
POLR2K	5440	broad.mit.edu	37	8	101165723	101165723	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101165723delT	uc003yjf.2	+	4						NM_005034	NP_005025			DNA directed RNA polymerase II polypeptide K						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)															---	---	---	---
RRM2B	50484	broad.mit.edu	37	8	103238407	103238407	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103238407delA	uc003ykn.2	-						RRM2B_uc003yko.2_Intron|RRM2B_uc010mbv.1_Intron|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_015713	NP_056528			ribonucleotide reductase M2 B (TP53 inducible)						deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	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;0.000728)										Direct_reversal_of_damage|Modulation_of_nucleotide_pools					---	---	---	---
EIF3E	3646	broad.mit.edu	37	8	109247340	109247340	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:109247340delA	uc003ymu.2	-						EIF3E_uc003ymt.2_Intron|EIF3E_uc003ymv.2_Intron|EIF3E_uc010mci.1_Intron|EIF3E_uc010mcj.1_Intron	NM_001568	NP_001559			eukaryotic translation initiation factor 3,						negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)															---	---	---	---
COLEC10	10584	broad.mit.edu	37	8	120103625	120103628	+	Intron	DEL	AAAA	-	-	rs33915063		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120103625_120103628delAAAA	uc003yoo.2	+							NM_006438	NP_006429			collectin sub-family member 10 precursor							collagen|cytoplasm	mannose binding			ovary(2)|skin(1)	3	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)															---	---	---	---
FBXO32	114907	broad.mit.edu	37	8	124516682	124516682	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124516682delC	uc003yqr.2	-						FBXO32_uc003yqq.2_Intron|FBXO32_uc010mdk.2_Intron	NM_058229	NP_478136			F-box only protein 32 isoform 1											skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141810338	141810338	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141810338delT	uc003yvu.2	-						PTK2_uc011ljq.1_Intron|PTK2_uc003yvp.2_Intron|PTK2_uc003yvq.2_Intron|PTK2_uc003yvr.2_Intron|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Intron|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Intron	NM_153831	NP_722560			PTK2 protein tyrosine kinase 2 isoform a						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141874667	141874667	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141874667delA	uc003yvu.2	-						PTK2_uc003yvr.2_Intron|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Intron|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Intron	NM_153831	NP_722560			PTK2 protein tyrosine kinase 2 isoform a						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
TSNARE1	203062	broad.mit.edu	37	8	143310945	143310946	+	Intron	DEL	GA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143310945_143310946delGA	uc003ywk.2	-						TSNARE1_uc011lju.1_Intron|TSNARE1_uc003ywj.2_Intron	NM_145003	NP_659440			t-SNARE domain containing 1						vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144885804	144885804	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144885804delG	uc003yzp.1	-						SCRIB_uc003yzn.1_Intron|SCRIB_uc003yzo.1_Intron	NM_015356	NP_056171			scribble isoform b						activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)															---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2110070	2110070	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2110070delT	uc003zhc.2	+						SMARCA2_uc003zhd.2_Intron|SMARCA2_uc010mha.2_Intron	NM_003070	NP_003061			SWI/SNF-related matrix-associated						chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
AK3	50808	broad.mit.edu	37	9	4712750	4712750	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4712750delT	uc003ziq.1	-	5					AK3_uc003zip.1_RNA|AK3_uc011lma.1_3'UTR|AK3_uc003zir.1_3'UTR	NM_016282	NP_057366			adenylate kinase 3						blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			ovary(2)	2	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)														---	---	---	---
C9orf46	55848	broad.mit.edu	37	9	5432077	5432077	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5432077delA	uc003zjc.2	-						C9orf46_uc003zjd.2_Intron	NM_018465	NP_060935			hypothetical protein LOC55848							integral to membrane				ovary(1)	1	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125)														---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8492687	8492687	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8492687delT	uc003zkk.2	-						PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Intron|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830			protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
Unknown	0	broad.mit.edu	37	9	15001532	15001532	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15001532delA	uc003zln.1	-						LOC389705_uc010mid.1_Intron					Homo sapiens cDNA FLJ46077 fis, clone TESTI2003768, weakly  similar to Chloride channel protein 3.																														---	---	---	---
Unknown	0	broad.mit.edu	37	9	19201057	19201057	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19201057delT								PLIN2 (73484 upstream) : DENND4C (89645 downstream)																																			---	---	---	---
KIAA1797	54914	broad.mit.edu	37	9	20953057	20953057	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20953057delA	uc003zog.1	+	37	4488	c.4125delA	c.(4123-4125)GGAfs	p.G1375fs	KIAA1797_uc003zoh.1_Frame_Shift_Del_p.G811fs	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1375						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)														---	---	---	---
PLAA	9373	broad.mit.edu	37	9	26926684	26926684	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26926684delT	uc003zqd.2	-						PLAA_uc003zqe.2_Intron	NM_001031689	NP_001026859			phospholipase A2-activating protein						phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)														---	---	---	---
IFT74	80173	broad.mit.edu	37	9	26998345	26998345	+	Intron	DEL	A	-	-	rs12341712		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:26998345delA	uc010mja.2	+						IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron|LRRC19_uc003zqh.2_Intron	NM_001099223	NP_001092693			coiled-coil domain containing 2 isoform a							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	31645188	31645188	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:31645188delA								None (None upstream) : ACO1 (739413 downstream)																																			---	---	---	---
APTX	54840	broad.mit.edu	37	9	32986220	32986220	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32986220delT	uc003zrm.2	-						APTX_uc010mjm.2_Intron|APTX_uc003zrj.2_Intron|APTX_uc011lns.1_Intron|APTX_uc003zrl.2_Intron|APTX_uc003zrn.2_Intron|APTX_uc003zro.2_Intron|APTX_uc003zrp.2_Intron|APTX_uc003zrq.2_Intron|APTX_uc003zrr.2_Intron|APTX_uc003zrs.2_Intron|APTX_uc003zrt.2_Intron|APTX_uc003zru.2_Intron|APTX_uc003zrv.2_Intron|APTX_uc003zrw.2_Intron|APTX_uc003zrx.2_Intron|APTX_uc003zry.2_Intron|APTX_uc003zrz.2_Intron|APTX_uc003zsa.1_Intron|APTX_uc003zsb.1_Intron|APTX_uc003zsc.1_Intron	NM_175072	NP_778242			aprataxin isoform c						cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)									Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---
Unknown	0	broad.mit.edu	37	9	38643838	38643838	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:38643838delA								C9orf122 (20563 upstream) : CNTNAP3 (428928 downstream)																																			---	---	---	---
FAM75A6	389730	broad.mit.edu	37	9	43624517	43624518	+	3'UTR	INS	-	AT	AT			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:43624517_43624518insAT	uc011lrb.1	-	4						NM_001145196	NP_001138668			hypothetical protein LOC389730							integral to membrane					0																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	69721737	69721737	+	IGR	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69721737delG								LOC100133920 (56788 upstream) : FOXD4L5 (453972 downstream)																																			---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79917680	79917680	+	Intron	DEL	A	-	-	rs115557456	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79917680delA	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_Intron|VPS13A_uc010mpo.1_Intron	NM_033305	NP_150648			vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	88437680	88437680	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88437680delA	uc004aog.1	+						uc004aoh.1_Intron					Homo sapiens cDNA FLJ42532 fis, clone BRACE3003004.																														---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88957837	88957837	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88957837delA	uc004aoq.2	-						ZCCHC6_uc011ltf.1_Intron|ZCCHC6_uc004aor.2_Intron|ZCCHC6_uc004aos.2_Intron|ZCCHC6_uc004aot.2_Intron|ZCCHC6_uc004aou.2_Intron|ZCCHC6_uc004aov.2_Intron|ZCCHC6_uc004aow.2_Intron	NM_024617	NP_078893			zinc finger, CCHC domain containing 6						RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
CDC14B	8555	broad.mit.edu	37	9	99327506	99327508	+	Intron	DEL	TTT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99327506_99327508delTTT	uc004awj.2	-						CDC14B_uc004awk.2_Intron|CDC14B_uc004awl.2_Intron|CDC14B_uc004awi.2_Intron	NM_033331	NP_201588			CDC14 homolog B isoform 2						activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
MURC	347273	broad.mit.edu	37	9	103340316	103340316	+	5'Flank	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103340316delG	uc004bba.2	+							NM_001018116	NP_001018126			muscle-related coiled-coil protein						cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)																---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114176142	114176142	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114176142delT	uc004bfe.1	-							NM_001080398	NP_001073867			KIAA0368 protein												0																		---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114206519	114206521	+	Intron	DEL	AAA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114206519_114206521delAAA	uc004bfe.1	-						KIAA0368_uc010muc.1_Intron	NM_001080398	NP_001073867			KIAA0368 protein												0																		---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	116034543	116034543	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116034543delA	uc010muu.1	-						CDC26_uc004bgw.2_Intron	NM_015258	NP_056073			FK506 binding protein 15, 133kDa						endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---
RABEPK	10244	broad.mit.edu	37	9	127995785	127995785	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127995785delT	uc004bpi.2	+						RABEPK_uc004bpj.2_Intron|RABEPK_uc004bpk.2_Intron|RABEPK_uc004bpl.1_Intron|RABEPK_uc004bpm.2_Intron	NM_005833	NP_005824			Rab9 effector protein with kelch motifs						receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1																		---	---	---	---
ZBTB43	23099	broad.mit.edu	37	9	129596298	129596298	+	3'UTR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129596298delA	uc004bql.2	+	3					ZBTB43_uc010mxf.2_3'UTR	NM_014007	NP_054726			zinc finger and BTB domain containing 43						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
LRSAM1	90678	broad.mit.edu	37	9	130247868	130247868	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130247868delT	uc004brb.1	+						LRSAM1_uc010mxk.1_Intron|LRSAM1_uc004brc.1_Intron|LRSAM1_uc004brd.1_Intron|LRSAM1_uc004bre.1_Intron	NM_001005373	NP_001005373			leucine rich repeat and sterile alpha motif						negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
SLC27A4	10999	broad.mit.edu	37	9	131116023	131116025	+	Intron	DEL	TTT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131116023_131116025delTTT	uc004but.2	+						SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085			solute carrier family 27 (fatty acid						long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0																		---	---	---	---
PHYHD1	254295	broad.mit.edu	37	9	131689650	131689650	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131689650delT	uc004bwo.2	+						PHYHD1_uc004bwn.2_Intron|PHYHD1_uc004bwm.2_Intron|PHYHD1_uc004bwp.2_Intron	NM_001100876	NP_001094346			phytanoyl-CoA dioxygenase domain containing 1								metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																OREG0019526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
USP20	10868	broad.mit.edu	37	9	132623004	132623004	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132623004delA	uc004bys.2	+						USP20_uc004byr.2_Intron|USP20_uc004byt.1_Intron	NM_001110303	NP_001103773			ubiquitin specific protease 20						endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)																---	---	---	---
Unknown	0	broad.mit.edu	37	9	133834279	133834281	+	IGR	DEL	CAT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133834279_133834281delCAT								FIBCD1 (19824 upstream) : LAMC3 (50223 downstream)																																			---	---	---	---
SURF6	6838	broad.mit.edu	37	9	136198598	136198599	+	3'UTR	DEL	GA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136198598_136198599delGA	uc004cdb.3	-	5						NM_006753	NP_006744			surfeit 6							granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)														---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140396079	140396079	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140396079delC	uc004cnf.2	-						C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Intron	NM_152286	NP_689499			patatin-like phospholipase domain containing 7						lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)														---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8005853	8005853	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8005853delT	uc010qbd.1	+							NM_031923	NP_114129			RNA polymerase II transcription factor TAFII140						maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
CELF2	10659	broad.mit.edu	37	10	11060019	11060019	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:11060019delC	uc001iki.3	+						CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Intron|CELF2_uc001ikk.2_5'UTR|CELF2_uc001ikl.3_5'UTR	NM_001025077	NP_001020248			CUG triplet repeat, RNA binding protein 2						mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0																		---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13320112	13320112	+	3'UTR	DEL	T	-	-	rs149348982		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13320112delT	uc001imf.2	-	9					PHYH_uc001ime.2_3'UTR|PHYH_uc001img.2_3'UTR	NM_006214	NP_006205			phytanoyl-CoA 2-hydroxylase isoform a precursor						fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding				0		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)													---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16882224	16882224	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16882224delA	uc001ioo.2	-							NM_001081	NP_001072			cubilin precursor						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)													---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17432798	17432799	+	Intron	INS	-	A	A	rs150378097	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17432798_17432799insA	uc001ipd.2	-						ST8SIA6_uc010qce.1_Intron|uc001ipe.2_Intron|uc001ipf.1_Intron	NM_001004470	NP_001004470			ST8 alpha-N-acetyl-neuraminide						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1																		---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21097279	21097280	+	Intron	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21097279_21097280delAA	uc001iqi.2	-						NEBL_uc001iqj.2_Intron|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384			nebulette sarcomeric isoform						regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21884079	21884079	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21884079delT	uc001iqs.2	+						MLLT10_uc001iqt.2_Intron|MLLT10_uc001iqv.2_Intron|MLLT10_uc001iqy.2_Intron|MLLT10_uc001iqz.2_5'Flank|MLLT10_uc009xke.1_Intron|MLLT10_uc001iqw.1_Intron|MLLT10_uc001iqx.1_Intron|MLLT10_uc009xkf.1_Intron	NM_004641	NP_004632			myeloid/lymphoid or mixed-lineage leukemia						positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2								T	MLL|PICALM|CDK6	AL								---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21958033	21958033	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21958033delT	uc001iqs.2	+						MLLT10_uc001iqt.2_Intron|MLLT10_uc001iqv.2_Intron|MLLT10_uc001iqy.2_Intron|MLLT10_uc001ira.2_Intron|MLLT10_uc001iqz.2_Intron	NM_004641	NP_004632			myeloid/lymphoid or mixed-lineage leukemia						positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2								T	MLL|PICALM|CDK6	AL								---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24875171	24875171	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24875171delT	uc001isb.2	-						ARHGAP21_uc010qdb.1_Intron	NM_020824	NP_065875			Rho GTPase activating protein 21						signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8																		---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26457970	26457970	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26457970delT	uc001isn.2	+						MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129			myosin IIIA						protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18																		---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27349136	27349136	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27349136delA	uc001ith.2	-						ANKRD26_uc001itg.2_Intron|ANKRD26_uc009xku.1_Intron	NM_014915	NP_055730			ankyrin repeat domain 26							centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---
MAP3K8	1326	broad.mit.edu	37	10	30728362	30728362	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30728362delA	uc001ivi.1	+						MAP3K8_uc009xlf.1_Intron|MAP3K8_uc001ivj.1_Intron	NM_005204	NP_005195			mitogen-activated protein kinase kinase kinase						cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)																---	---	---	---
KIF5B	3799	broad.mit.edu	37	10	32307659	32307659	+	Intron	DEL	T	-	-	rs211377		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:32307659delT	uc001iwe.3	-							NM_004521	NP_004512			kinesin family member 5B						stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)																---	---	---	---
EPC1	80314	broad.mit.edu	37	10	32573497	32573497	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:32573497delT	uc001iwg.1	-						EPC1_uc001iwi.3_Intron|EPC1_uc009xlt.2_Intron|EPC1_uc001iwh.1_Intron	NM_025209	NP_079485			enhancer of polycomb 1						histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)																---	---	---	---
EPC1	80314	broad.mit.edu	37	10	32582402	32582403	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:32582402_32582403insT	uc001iwg.1	-						EPC1_uc001iwi.3_Intron|EPC1_uc009xlt.2_Intron|EPC1_uc001iwh.1_Intron	NM_025209	NP_079485			enhancer of polycomb 1						histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)																---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37490017	37490017	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37490017delT	uc001iza.1	+							NM_052997	NP_443723			ankyrin repeat domain 30A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	45689567	45689568	+	IGR	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45689567_45689568insA								LOC100133308 (39523 upstream) : OR13A1 (108534 downstream)																																			---	---	---	---
FAM21C	253725	broad.mit.edu	37	10	46238682	46238682	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46238682delT	uc001jcu.2	+						FAM21C_uc001jcs.1_Intron|FAM21C_uc001jct.2_Intron|FAM21C_uc010qfi.1_Intron	NM_015262	NP_056077			hypothetical protein LOC253725											ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	48980053	48980053	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48980053delA	uc001jgc.1	+											full-length cDNA clone CS0DI009YC01 of Placenta Cot 25-normalized of Homo sapiens (human).																														---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49382781	49382782	+	Intron	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49382781_49382782delAA	uc001jgi.2	-						FRMPD2_uc001jgh.2_Intron|FRMPD2_uc001jgj.2_Intron|FRMPD2L1_uc001jgf.2_Intron|FRMPD2_uc001jgg.2_Intron|FRMPD2_uc001jgk.2_Intron	NM_001018071	NP_001018081			FERM and PDZ domain containing 2 isoform 3						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60461683	60461683	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60461683delT	uc001jki.1	+							NM_001080512	NP_001073981			bicaudal C homolog 1						multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
ANK3	288	broad.mit.edu	37	10	61958418	61958418	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61958418delA	uc001jky.2	-						ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jlb.1_Intron|ANK3_uc001jlc.1_Intron	NM_020987	NP_066267			ankyrin 3 isoform 1						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
ASCC1	51008	broad.mit.edu	37	10	73956534	73956534	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73956534delT	uc001jst.1	-						ASCC1_uc001jsr.1_Intron|ASCC1_uc001jss.1_Intron|ASCC1_uc001jsu.1_Intron|ASCC1_uc010qju.1_Intron					RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding				0																		---	---	---	---
LIPN	643418	broad.mit.edu	37	10	90524412	90524412	+	Intron	DEL	A	-	-	rs398126	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90524412delA	uc010qmw.1	+							NM_001102469	NP_001095939			lipase-like, ab-hydrolase domain containing 4						lipid catabolic process	extracellular region	hydrolase activity				0		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)														---	---	---	---
ANKRD22	118932	broad.mit.edu	37	10	90585659	90585659	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90585659delA	uc001kfj.3	-							NM_144590	NP_653191			ankyrin repeat domain 22												0		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)														---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91497021	91497021	+	Intron	DEL	T	-	-	rs72076248		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91497021delT	uc001kgs.1	+						KIF20B_uc001kgr.1_Intron|KIF20B_uc001kgt.1_Intron|KIF20B_uc009xtw.1_5'Flank	NM_016195	NP_057279			M-phase phosphoprotein 1						cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	94968105	94968106	+	IGR	DEL	TT	-	-	rs76646378		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94968105_94968106delTT								CYP26A1 (130464 upstream) : MYOF (98081 downstream)																																			---	---	---	---
PDE6C	5146	broad.mit.edu	37	10	95382046	95382046	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95382046delT	uc001kiu.3	+							NM_006204	NP_006195			phosphodiesterase 6C						visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)																---	---	---	---
LGI1	9211	broad.mit.edu	37	10	95549725	95549725	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95549725delA	uc001kjc.3	+						LGI1_uc010qnv.1_Intron|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_Intron|LGI1_uc001kje.2_Intron	NM_005097	NP_005088			leucine-rich, glioma inactivated 1 precursor						axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4		Colorectal(252;0.124)																---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96094287	96094287	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96094287delA	uc001kjq.1	-							NM_022451	NP_071896			nucleolar complex associated 3 homolog							nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)																---	---	---	---
CNNM1	26507	broad.mit.edu	37	10	101124158	101124158	+	Intron	DEL	T	-	-	rs74506525		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101124158delT	uc001kpp.3	+						CNNM1_uc009xwe.2_Intron|CNNM1_uc010qpi.1_Intron|CNNM1_uc009xwf.2_Intron|CNNM1_uc009xwg.2_Intron	NM_020348	NP_065081			cyclin M1						ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)														---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101462505	101462505	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101462505delT	uc001kqa.3	+						ENTPD7_uc009xwl.2_Intron	NM_020354	NP_065087			ectonucleoside triphosphate diphosphohydrolase							cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)														---	---	---	---
LDB1	8861	broad.mit.edu	37	10	103870407	103870407	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103870407delC	uc009xwz.2	-	6	747	c.404delG	c.(403-405)GGTfs	p.G135fs	LDB1_uc001kuk.3_Frame_Shift_Del_p.G99fs|LDB1_uc001kul.3_Frame_Shift_Del_p.G99fs	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	135					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)														---	---	---	---
NFKB2	4791	broad.mit.edu	37	10	104157585	104157586	+	Intron	INS	-	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104157585_104157586insC	uc001kvb.2	+						NFKB2_uc001kva.2_Intron|NFKB2_uc010qqk.1_Intron|NFKB2_uc001kvd.2_Intron|NFKB2_uc009xxc.2_Intron	NM_001077494	NP_001070962			nuclear factor of kappa light polypeptide gene						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)				T	IGH@	B-NHL								---	---	---	---
NT5C2	22978	broad.mit.edu	37	10	104858754	104858754	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104858754delA	uc001kwo.2	-						NT5C2_uc010qqp.1_Intron|NT5C2_uc001kwq.2_Intron|NT5C2_uc001kwp.2_Intron	NM_012229	NP_036361			5'-nucleotidase, cytosolic II						purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)													---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105186868	105186868	+	Intron	DEL	A	-	-	rs75558099		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105186868delA	uc001kwy.1	+							NM_014976	NP_055791			programmed cell death 11						mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114918625	114918625	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114918625delT	uc001lae.3	+						TCF7L2_uc001lac.3_Intron|TCF7L2_uc010qrk.1_Intron|TCF7L2_uc010qrl.1_Intron|TCF7L2_uc010qrm.1_Intron|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Intron|TCF7L2_uc001lag.3_Intron|TCF7L2_uc001laf.3_Intron|TCF7L2_uc010qro.1_Intron|TCF7L2_uc001lah.2_Intron|TCF7L2_uc010qrp.1_Intron|TCF7L2_uc010qrq.1_Intron|TCF7L2_uc010qrr.1_Intron|TCF7L2_uc010qrs.1_Intron|TCF7L2_uc010qrt.1_Intron|TCF7L2_uc010qru.1_Intron|TCF7L2_uc010qrv.1_Intron|TCF7L2_uc010qrw.1_Intron|TCF7L2_uc010qrx.1_Intron	NM_001146274	NP_001139746			transcription factor 7-like 2 isoform 1						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)														---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114919601	114919602	+	Intron	INS	-	TCT	TCT	rs140077292	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114919601_114919602insTCT	uc001lae.3	+						TCF7L2_uc001lac.3_Intron|TCF7L2_uc010qrk.1_Intron|TCF7L2_uc010qrl.1_Intron|TCF7L2_uc010qrm.1_Intron|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Intron|TCF7L2_uc001lag.3_Intron|TCF7L2_uc001laf.3_Intron|TCF7L2_uc010qro.1_Intron|TCF7L2_uc001lah.2_Intron|TCF7L2_uc010qrp.1_Intron|TCF7L2_uc010qrq.1_Intron|TCF7L2_uc010qrr.1_Intron|TCF7L2_uc010qrs.1_Intron|TCF7L2_uc010qrt.1_Intron|TCF7L2_uc010qru.1_Intron|TCF7L2_uc010qrv.1_Intron|TCF7L2_uc010qrw.1_Intron|TCF7L2_uc010qrx.1_Intron	NM_001146274	NP_001139746			transcription factor 7-like 2 isoform 1						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)														---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118401833	118401833	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118401833delT	uc001lcq.2	+							NM_005396	NP_005387			pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)														---	---	---	---
C10orf119	79892	broad.mit.edu	37	10	121609304	121609304	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121609304delT	uc001ler.2	-						C10orf119_uc001leq.1_Intron|C10orf119_uc001les.1_Intron|C10orf119_uc001let.1_Intron	NM_024834	NP_079110			chromosome 10 open reading frame 119						cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding				0		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.0044)														---	---	---	---
WDR11	55717	broad.mit.edu	37	10	122631018	122631020	+	Intron	DEL	AAT	-	-	rs58155572		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:122631018_122631020delAAT	uc010qtf.1	+						WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_Intron	NM_018117	NP_060587			bromodomain and WD repeat domain containing 2							integral to membrane					0																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	129351059	129351060	+	IGR	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129351059_129351060insA								NPS (124 upstream) : FOXI2 (184478 downstream)																																			---	---	---	---
TALDO1	6888	broad.mit.edu	37	11	756115	756115	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:756115delA	uc001lqz.2	+						TALDO1_uc010qwl.1_Intron|TALDO1_uc001lra.2_Intron	NM_006755	NP_006746			transaldolase 1						energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)														---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1024987	1024988	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1024987_1024988delCC	uc001lsw.2	-	24	3132_3133	c.3081_3082delGG	c.(3079-3084)TTGGTGfs	p.L1027fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1027_1028	VWFD 3.				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)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1159081	1159081	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1159081delC	uc009ycr.1	+							NM_017511	NP_059981			SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)														---	---	---	---
CTSD	1509	broad.mit.edu	37	11	1774945	1774945	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1774945delC	uc001luc.1	-						CTSD_uc009yda.1_Intron	NM_001909	NP_001900			cathepsin D preproprotein						cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9850658	9850658	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9850658delA	uc001mib.2	-							NM_030962	NP_112224			SET binding factor 2						myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)														---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10828156	10828156	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10828156delA	uc001mjc.2	-						EIF4G2_uc001mjb.2_Intron|EIF4G2_uc009ygf.2_Intron|EIF4G2_uc001mjd.2_Intron|EIF4G2_uc001mjf.1_Intron	NM_001418	NP_001409			eukaryotic translation initiation factor 4						cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---
HPS5	11234	broad.mit.edu	37	11	18308089	18308089	+	Intron	DEL	A	-	-	rs76467437		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18308089delA	uc001mod.1	-						HPS5_uc001moe.1_Intron|HPS5_uc001mof.1_Intron	NM_181507	NP_852608			Hermansky-Pudlak syndrome 5 isoform a							cytosol				ovary(1)|pancreas(1)|skin(1)	3														Hermansky-Pudlak_syndrome				---	---	---	---
LDHAL6A	160287	broad.mit.edu	37	11	18500558	18500559	+	3'UTR	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18500558_18500559delTT	uc001mop.1	+	8					LDHAL6A_uc001moq.2_3'UTR	NM_001144071	NP_001137543			lactate dehydrogenase A-like 6A						glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)													---	---	---	---
Unknown	0	broad.mit.edu	37	11	18894389	18894389	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18894389delT								PTPN5 (81000 upstream) : MRGPRX1 (60972 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	11	18894524	18894524	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18894524delT								PTPN5 (81135 upstream) : MRGPRX1 (60837 downstream)																																			---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20065349	20065349	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20065349delA	uc010rdm.1	+						NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Intron|NAV2_uc001mpt.2_Intron|NAV2_uc009yhx.2_Intron|NAV2_uc009yhy.1_Intron	NM_145117	NP_660093			neuron navigator 2 isoform 2							nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
HTATIP2	10553	broad.mit.edu	37	11	20404503	20404503	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20404503delT	uc009yia.1	+						HTATIP2_uc009yib.1_Intron|HTATIP2_uc001mpx.2_Intron|HTATIP2_uc001mpz.2_Intron	NM_006410	NP_006401			HIV-1 Tat interactive protein 2, 30kDa isoform						angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity				0																		---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27390693	27390693	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27390693delA	uc001mrj.3	-						LGR4_uc001mrk.3_Intron	NM_018490	NP_060960			leucine-rich repeat-containing G protein-coupled							integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1																		---	---	---	---
ELP4	26610	broad.mit.edu	37	11	31785302	31785302	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:31785302delT	uc001mtb.2	+						ELP4_uc001mtc.2_Intron|ELP4_uc010rdz.1_Intron	NM_019040	NP_061913			elongation protein 4 homolog						histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)																	---	---	---	---
CSTF3	1479	broad.mit.edu	37	11	33182669	33182669	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33182669delA	uc001muh.2	-						CSTF3_uc001mui.2_Intron|CSTF3_uc001muj.2_Intron|uc001muk.2_5'Flank	NM_001326	NP_001317			cleavage stimulation factor subunit 3 isoform 1						mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0																OREG0020867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CAT	847	broad.mit.edu	37	11	34474415	34474416	+	Intron	DEL	AG	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34474415_34474416delAG	uc001mvm.2	+						CAT_uc009ykc.1_Intron	NM_001752	NP_001743			catalase						hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
CAT	847	broad.mit.edu	37	11	34482536	34482536	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34482536delA	uc001mvm.2	+						CAT_uc009ykc.1_Intron|CAT_uc001mvn.2_5'Flank	NM_001752	NP_001743			catalase						hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59417202	59417202	+	Intron	DEL	T	-	-	rs111578876		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59417202delT	uc001noe.3	-						PATL1_uc009yms.1_Intron|PATL1_uc010rkw.1_Intron	NM_152716	NP_689929			protein associated with topoisomerase II homolog						cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1																		---	---	---	---
HRASLS5	117245	broad.mit.edu	37	11	63256148	63256151	+	Intron	DEL	TTTT	-	-	rs35614311		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63256148_63256151delTTTT	uc001nwy.2	-						HRASLS5_uc001nwz.2_Intron|HRASLS5_uc010rmq.1_Intron|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449			HRAS-like suppressor family, member 5 isoform 1											ovary(1)	1																		---	---	---	---
MEN1	4221	broad.mit.edu	37	11	64572093	64572093	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64572093delG	uc001obj.2	-	10	1634	c.1561delC	c.(1561-1563)CGGfs	p.R521fs	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obl.2_Frame_Shift_Del_p.R481fs|MEN1_uc001obm.2_Frame_Shift_Del_p.R516fs|MEN1_uc001obn.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obo.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obp.2_Frame_Shift_Del_p.R516fs|MEN1_uc001obq.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obr.2_Frame_Shift_Del_p.R521fs	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	521					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.R516fs*15(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238								D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				---	---	---	---
RAB1B	81876	broad.mit.edu	37	11	66039143	66039143	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66039143delA	uc001ohf.2	+						uc001ohg.1_RNA	NM_030981	NP_112243			RAB1B, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding				0																		---	---	---	---
PITPNM1	9600	broad.mit.edu	37	11	67268082	67268082	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67268082delC	uc001olx.2	-						PITPNM1_uc001olw.2_5'Flank|PITPNM1_uc001oly.2_Intron|PITPNM1_uc001olz.2_Intron	NM_004910	NP_004901			phosphatidylinositol transfer protein,						brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3																		---	---	---	---
NDUFV1	4723	broad.mit.edu	37	11	67377309	67377309	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67377309delT	uc001omj.2	+						NDUFV1_uc010rpv.1_Intron|NDUFV1_uc001oml.2_Intron|NDUFV1_uc001omk.3_Intron|NDUFV1_uc009yrz.1_Intron|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034			NADH dehydrogenase ubiquinone flavoprotein 1						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)													---	---	---	---
Unknown	0	broad.mit.edu	37	11	89771988	89771988	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89771988delT	uc010rua.1	+							NM_020358	NP_065091			ring finger protein 18																														---	---	---	---
SESN3	143686	broad.mit.edu	37	11	94917941	94917941	+	Intron	DEL	T	-	-	rs79049625		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94917941delT	uc001pfk.1	-						SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Intron	NM_144665	NP_653266			sestrin 3						cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)														---	---	---	---
AASDHPPT	60496	broad.mit.edu	37	11	105961907	105961907	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105961907delT	uc001pjc.1	+						AASDHPPT_uc010rvn.1_Intron|AASDHPPT_uc001pjd.1_Intron	NM_015423	NP_056238			aminoadipate-semialdehyde						macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding				0		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)														---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114121372	114121372	+	3'UTR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114121372delA	uc001pop.2	+	7					ZBTB16_uc001poq.2_3'UTR	NM_006006	NP_005997			promyelocytic leukemia zinc finger protein						apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	114383759	114383759	+	IGR	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114383759delC								REXO2 (62761 upstream) : FAM55A (8679 downstream)																																			---	---	---	---
ZNF259	8882	broad.mit.edu	37	11	116650308	116650309	+	Intron	DEL	AA	-	-	rs36064778		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116650308_116650309delAA	uc001ppp.2	-						ZNF259_uc009yzd.2_Intron|ZNF259_uc001ppq.2_Intron	NM_003904	NP_003895			zinc finger protein 259						cell proliferation|signal transduction	cytoplasm|nucleolus					0	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)														---	---	---	---
SCN2B	6327	broad.mit.edu	37	11	118047235	118047235	+	5'UTR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118047235delA	uc001psf.2	-	1						NM_004588	NP_004579			sodium channel, voltage-gated, type II, beta						synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)														---	---	---	---
UBE4A	9354	broad.mit.edu	37	11	118252002	118252002	+	Intron	DEL	T	-	-	rs139803253	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118252002delT	uc001psw.2	+						UBE4A_uc001psv.2_Intron	NM_004788	NP_004779			ubiquitination factor E4A						ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)														---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119051752	119051752	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119051752delA	uc001pvu.2	+						NLRX1_uc010rzc.1_Intron|NLRX1_uc001pvv.2_Intron|NLRX1_uc001pvw.2_Intron|NLRX1_uc001pvx.2_Intron	NM_024618	NP_078894			NLR family member X1 isoform 1						innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)														---	---	---	---
TBCEL	219899	broad.mit.edu	37	11	120930918	120930918	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120930918delA	uc009zay.2	+						TBCEL_uc001pxo.2_Intron|TBCEL_uc001pxp.2_Intron|TBCEL_uc001pxq.2_Intron	NM_001130047	NP_001123519			tubulin folding cofactor E-like							cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)														---	---	---	---
CRTAM	56253	broad.mit.edu	37	11	122724521	122724521	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122724521delA	uc001pyj.2	+							NM_019604	NP_062550			class-I MHC-restricted T cell associated						cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)														---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122775729	122775729	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122775729delT	uc001pym.2	+						C11orf63_uc001pyl.1_Intron	NM_024806	NP_079082			hypothetical protein LOC79864 isoform 1											ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)														---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128993225	128993225	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128993225delA	uc009zcp.2	-						ARHGAP32_uc009zcq.1_Intron	NM_001142685	NP_001136157			Rho GTPase-activating protein isoform 1						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																		---	---	---	---
SPATA19	219938	broad.mit.edu	37	11	133712619	133712619	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133712619delT	uc001qgv.1	-							NM_174927	NP_777587			spermatogenesis associated 19 precursor						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)														---	---	---	---
C1S	716	broad.mit.edu	37	12	7169412	7169412	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7169412delA	uc001qsj.2	+						C1S_uc001qsk.2_Intron|C1S_uc001qsl.2_Intron|C1S_uc009zfr.2_Intron|C1S_uc009zfs.2_Intron	NM_201442	NP_958850			complement component 1, s subcomponent						complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)													---	---	---	---
C1R	715	broad.mit.edu	37	12	7242010	7242010	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7242010delG	uc010sfy.1	-	5	706	c.647delC	c.(646-648)CCTfs	p.P216fs	C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	216	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20523344	20523345	+	Intron	DEL	TT	-	-	rs11045194		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20523344_20523345delTT	uc001reh.1	+							NM_000921	NP_000912			phosphodiesterase 3A						lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)													---	---	---	---
KIAA0528	9847	broad.mit.edu	37	12	22637469	22637469	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22637469delT	uc001rfq.2	-						KIAA0528_uc010sir.1_Intron|KIAA0528_uc010sis.1_Intron|KIAA0528_uc010sit.1_Intron|KIAA0528_uc010siu.1_Intron|KIAA0528_uc001rfr.2_Intron|KIAA0528_uc009ziy.1_Intron	NM_014802	NP_055617			hypothetical protein LOC9847								protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
BCAT1	586	broad.mit.edu	37	12	25002621	25002621	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:25002621delT	uc001rgd.3	-						BCAT1_uc001rgc.2_Intron|BCAT1_uc010six.1_Intron|BCAT1_uc010siy.1_Intron|BCAT1_uc001rge.3_Intron	NM_005504	NP_005495			branched chain aminotransferase 1, cytosolic						branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)													---	---	---	---
MRPS35	60488	broad.mit.edu	37	12	27888320	27888320	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27888320delT	uc001rih.2	+						MRPS35_uc001rii.2_Intron	NM_021821	NP_068593			mitochondrial ribosomal protein S35 precursor						DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit					0	Lung SC(9;0.0873)																	---	---	---	---
DENND5B	160518	broad.mit.edu	37	12	31633203	31633203	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31633203delA	uc001rki.1	-						DENND5B_uc001rkh.1_Intron|DENND5B_uc009zjq.1_5'Flank|DENND5B_uc001rkj.2_Intron|DENND5B_uc001rkk.1_Intron	NM_144973	NP_659410			DENN/MADD domain containing 5B							integral to membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40265442	40265442	+	Intron	DEL	T	-	-	rs78698425		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40265442delT	uc010skm.1	-						C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Intron	NM_052885	NP_443117			solute carrier family 2 (facilitated glucose							integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)													HNSCC(50;0.14)			---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41312364	41312365	+	Intron	INS	-	T	T	rs112565704		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41312364_41312365insT	uc001rmm.1	+						CNTN1_uc009zjy.1_Intron|CNTN1_uc001rmn.1_Intron|CNTN1_uc001rmo.2_Intron	NM_001843	NP_001834			contactin 1 isoform 1 precursor						axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---
SLC38A1	81539	broad.mit.edu	37	12	46582935	46582935	+	Intron	DEL	T	-	-	rs147250173	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46582935delT	uc001rpa.2	-						SLC38A1_uc001rpb.2_Intron|SLC38A1_uc001rpc.2_Intron|SLC38A1_uc001rpd.2_Intron|SLC38A1_uc001rpe.2_Intron	NM_030674	NP_109599			amino acid transporter system A1						cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)															---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47170830	47170830	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:47170830delA	uc001rpi.2	-						SLC38A4_uc001rpj.2_Intron	NM_018018	NP_060488			solute carrier family 38, member 4						cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)																	---	---	---	---
TMPRSS12	283471	broad.mit.edu	37	12	51279387	51279387	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51279387delT	uc001rwx.3	+						TMPRSS12_uc001rwy.2_3'UTR	NM_182559	NP_872365			transmembrane protease, serine 12 precursor						proteolysis	integral to membrane	serine-type endopeptidase activity				0																		---	---	---	---
TFCP2	7024	broad.mit.edu	37	12	51493732	51493732	+	Intron	DEL	T	-	-	rs55976164		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51493732delT	uc001rxw.2	-						TFCP2_uc001rxv.1_Intron|TFCP2_uc009zlx.1_Intron|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Intron	NM_005653	NP_005644			transcription factor CP2						regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
KRT83	3889	broad.mit.edu	37	12	52711957	52711957	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52711957delT	uc001saf.2	-							NM_002282	NP_002273			keratin 83						epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
SPRYD3	84926	broad.mit.edu	37	12	53470733	53470734	+	Intron	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53470733_53470734delAA	uc001sbt.1	-						SPRYD3_uc010snw.1_Intron	NM_032840	NP_116229			SPRY domain containing 3											central_nervous_system(1)	1																		---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55759486delT	uc010spk.1	+	1	592	c.592delT	c.(592-594)TTTfs	p.F198fs		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3																		---	---	---	---
DNAJC14	85406	broad.mit.edu	37	12	56197268	56197268	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56197268delA	uc001shu.1	-						SARNP_uc009zoa.2_Intron|SARNP_uc001shs.3_Intron|SARNP_uc001sht.2_Intron|SARNP_uc001shv.3_Intron	NM_032364	NP_115740			dopamine receptor interacting protein						protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
CDK2	1017	broad.mit.edu	37	12	56361582	56361582	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56361582delG	uc001sit.3	+						CDK2_uc001siu.3_Intron|CDK2_uc010spy.1_Intron	NM_001798	NP_001789			cyclin-dependent kinase 2 isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)															---	---	---	---
RAB5B	5869	broad.mit.edu	37	12	56384192	56384192	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56384192delA	uc001siv.2	+						RAB5B_uc001siw.2_Intron|RAB5B_uc009zog.2_Intron|RAB5B_uc010spz.1_Intron	NM_002868	NP_002859			RAB5B, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)															---	---	---	---
OS9	10956	broad.mit.edu	37	12	58113738	58113738	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58113738delT	uc001spj.2	+						OS9_uc010srx.1_Intron|OS9_uc001spk.2_Intron|OS9_uc001spl.2_Intron|OS9_uc001spm.2_Intron|OS9_uc001spn.2_Intron|OS9_uc010sry.1_Intron|OS9_uc010srz.1_Intron	NM_006812	NP_006803			osteosarcoma amplified 9, endoplasmic reticulum						ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)															---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58124639	58124639	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58124639delC	uc001spq.2	-	11	2243	c.2243delG	c.(2242-2244)GGCfs	p.G748fs	AGAP2_uc001spp.2_Frame_Shift_Del_p.G748fs|AGAP2_uc001spr.2_Frame_Shift_Del_p.G412fs	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	748	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5																		---	---	---	---
CDK4	1019	broad.mit.edu	37	12	58145599	58145599	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58145599delA	uc001spv.2	-						CDK4_uc010ssb.1_Intron|CDK4_uc001spw.2_Intron	NM_000075	NP_000066			cyclin-dependent kinase 4						cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)|breast(1)|central_nervous_system(1)	3	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)					Mis			melanoma 			Hereditary_Melanoma				---	---	---	---
C12orf56	115749	broad.mit.edu	37	12	64746925	64746925	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64746925delT	uc001ssa.3	-						uc001srx.2_Intron	NM_001099676	NP_001093146			hypothetical protein LOC115749												0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)														---	---	---	---
PPP1R12A	4659	broad.mit.edu	37	12	80199648	80199649	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80199648_80199649insT	uc001syz.2	-						PPP1R12A_uc010suc.1_Intron|PPP1R12A_uc001sza.2_Intron|PPP1R12A_uc010sud.1_Intron|PPP1R12A_uc001szb.2_Intron|PPP1R12A_uc001szc.2_Intron	NM_002480	NP_002471			protein phosphatase 1, regulatory (inhibitor)							contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7																		---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81655693	81655693	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81655693delT	uc001szo.1	-						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Intron|PPFIA2_uc010suh.1_Intron|PPFIA2_uc010suf.1_Intron|PPFIA2_uc009zsh.2_Intron	NM_003625	NP_003616			PTPRF interacting protein alpha 2											ovary(3)|lung(2)|pancreas(1)	6																		---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88514121	88514121	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88514121delT	uc001tar.2	-						CEP290_uc001tat.2_Intron|CEP290_uc009zsl.1_Intron	NM_025114	NP_079390			centrosomal protein 290kDa						cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7																		---	---	---	---
SLC25A3	5250	broad.mit.edu	37	12	98985037	98985037	+	5'Flank	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98985037delT	uc001tfo.2	+						SLC25A3_uc001tfm.2_5'Flank|SLC25A3_uc001tfn.2_5'Flank|SLC25A3_uc001tfp.2_5'Flank|SLC25A3_uc001tfq.2_5'Flank|SLC25A3_uc001tfr.2_5'Flank|SLC25A3_uc001tfs.2_5'Flank|SLC25A3_uc009ztn.2_5'Flank|SLC25A3_uc001tft.2_5'Flank	NM_005888	NP_005879			solute carrier family 25 member 3 isoform a						generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity				0		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)														---	---	---	---
SLC25A3	5250	broad.mit.edu	37	12	98992548	98992548	+	Intron	DEL	T	-	-	rs71756041		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98992548delT	uc001tfo.2	+						SLC25A3_uc001tfm.2_Intron|SLC25A3_uc001tfn.2_Intron|SLC25A3_uc001tfp.2_Intron|SLC25A3_uc001tfq.2_Intron|SLC25A3_uc001tfr.2_Intron|SLC25A3_uc001tfs.2_Intron|SLC25A3_uc009ztn.2_Intron|SLC25A3_uc001tft.2_Intron|SNORA53_uc001tfu.1_5'Flank	NM_005888	NP_005879			solute carrier family 25 member 3 isoform a						generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity				0		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)														---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100443930	100443930	+	Intron	DEL	A	-	-	rs150785024		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100443930delA	uc001tgq.2	-						UHRF1BP1L_uc001tgp.2_Intron	NM_015054	NP_055869			UHRF1 (ICBP90) binding protein 1-like isoform a											ovary(2)	2																		---	---	---	---
DEPDC4	120863	broad.mit.edu	37	12	100657163	100657163	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100657163delT	uc001thi.2	-						DEPDC4_uc001thh.1_Intron|DEPDC4_uc001thj.1_Intron|DEPDC4_uc009ztv.1_Intron|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	NM_152317	NP_689530			DEP domain containing 4						intracellular signal transduction						0																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101701820	101701820	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101701820delA	uc001tia.1	+							NM_014503	NP_055318			down-regulated in metastasis						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102040416	102040417	+	Intron	INS	-	A	A	rs35547157		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102040416_102040417insA	uc001tii.2	+						MYBPC1_uc001tif.1_Intron|MYBPC1_uc001tig.2_Intron|MYBPC1_uc010svq.1_Intron|MYBPC1_uc001tih.2_Intron|MYBPC1_uc001tij.2_Intron|MYBPC1_uc010svr.1_Intron|MYBPC1_uc010svs.1_Intron|MYBPC1_uc010svt.1_Intron|MYBPC1_uc010svu.1_Intron|MYBPC1_uc001tik.2_Intron	NM_206820	NP_996556			myosin binding protein C, slow type isoform 3						cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102468600	102468600	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102468600delA	uc001tjc.2	-							NM_024057	NP_076962			nucleoporin 37kDa						carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1																		---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109849552	109849553	+	Intron	INS	-	CT	CT	rs146618593	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109849552_109849553insCT	uc010sxn.1	+							NM_001101421	NP_001094891			myosin 1H							myosin complex	motor activity				0																		---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110584610	110584610	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110584610delA	uc001tqi.2	+						IFT81_uc001tqh.2_Intron|IFT81_uc001tqj.2_Intron|IFT81_uc001tqg.2_Intron	NM_001143779	NP_001137251			intraflagellar transport 81-like isoform 1						cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1																		---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112184800	112184800	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112184800delT	uc001tsq.2	+						ACAD10_uc001tsp.2_Intron|ACAD10_uc009zvx.2_Intron|ACAD10_uc001tss.1_Intron	NM_025247	NP_079523			acyl-Coenzyme A dehydrogenase family, member 10								acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2																		---	---	---	---
TMEM116	89894	broad.mit.edu	37	12	112430908	112430909	+	Intron	INS	-	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112430908_112430909insC	uc001ttc.1	-						TMEM116_uc001ttd.1_Intron|TMEM116_uc001tte.1_Intron|TMEM116_uc001ttf.1_Intron|TMEM116_uc001ttg.1_Intron|TMEM116_uc001tth.1_Intron|TMEM116_uc001tti.1_Intron	NM_138341	NP_612350			transmembrane protein 116							integral to membrane				ovary(1)	1																		---	---	---	---
PLBD2	196463	broad.mit.edu	37	12	113812857	113812858	+	Intron	DEL	CA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113812857_113812858delCA	uc001tve.2	+						PLBD2_uc001tvf.2_Intron	NM_173542	NP_775813			phospholipase B domain containing 2 isoform 1						lipid catabolic process	lysosomal lumen	hydrolase activity				0																		---	---	---	---
FBXO21	23014	broad.mit.edu	37	12	117612801	117612801	+	Intron	DEL	A	-	-	rs138433024		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117612801delA	uc001twk.2	-						FBXO21_uc001twj.2_Intron|FBXO21_uc009zwq.2_Intron	NM_033624	NP_296373			F-box only protein 21 isoform 1						ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)														---	---	---	---
COQ5	84274	broad.mit.edu	37	12	120959801	120959801	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120959801delA	uc001tyn.2	-						COQ5_uc001tyo.2_Intron|COQ5_uc010szj.1_Intron	NM_032314	NP_115690			coenzyme Q5 homolog, methyltransferase						ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
C12orf43	64897	broad.mit.edu	37	12	121444023	121444026	+	Intron	DEL	AAAG	-	-	rs144577739		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121444023_121444026delAAAG	uc001tzh.1	-						C12orf43_uc009zxa.1_Intron|C12orf43_uc010szo.1_Intron|C12orf43_uc010szp.1_Intron|C12orf43_uc001tzi.1_Intron	NM_022895	NP_075046			hypothetical protein LOC64897												0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
P2RX4	5025	broad.mit.edu	37	12	121660724	121660724	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121660724delC	uc001tzr.2	+						P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.2_Intron|P2RX4_uc001tzs.2_Intron|P2RX4_uc009zxb.2_Intron|P2RX4_uc010szt.1_Intron	NM_002560	NP_002551			purinergic receptor P2X4						endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
ANAPC5	51433	broad.mit.edu	37	12	121757630	121757630	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121757630delA	uc001uag.2	-						ANAPC5_uc010szu.1_Intron|ANAPC5_uc001uae.2_Intron|ANAPC5_uc010szv.1_Intron|ANAPC5_uc001uaf.2_Intron|ANAPC5_uc001uah.2_Intron|ANAPC5_uc001uai.1_Intron	NM_016237	NP_057321			anaphase-promoting complex subunit 5 isoform a						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
WDR66	144406	broad.mit.edu	37	12	122399654	122399654	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122399654delT	uc009zxk.2	+							NM_144668	NP_653269			WD repeat domain 66								calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)														---	---	---	---
RSRC2	65117	broad.mit.edu	37	12	122991552	122991552	+	Intron	DEL	A	-	-	rs144251671		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122991552delA	uc001ucr.2	-						RSRC2_uc001uco.2_Intron|RSRC2_uc001ucp.2_Intron|RSRC2_uc001ucq.2_Intron|RSRC2_uc001ucs.2_Intron|RSRC2_uc001uct.2_Intron|RSRC2_uc001ucu.2_Intron	NM_023012	NP_075388			arginine/serine-rich coiled-coil 2 isoform a											ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)														---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123028211	123028211	+	Intron	DEL	A	-	-	rs35450849		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123028211delA	uc001ucv.2	+						KNTC1_uc010taf.1_Intron	NM_014708	NP_055523			Rough Deal homolog, centromere/kinetochore						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)														---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123073397	123073397	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123073397delT	uc001ucv.2	+						KNTC1_uc010taf.1_Intron	NM_014708	NP_055523			Rough Deal homolog, centromere/kinetochore						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)														---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123087620	123087620	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123087620delA	uc001ucv.2	+	48	5094	c.4931delA	c.(4930-4932)GAAfs	p.E1644fs	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1644					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)														---	---	---	---
ABCB9	23457	broad.mit.edu	37	12	123419717	123419717	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123419717delA	uc001udm.3	-						ABCB9_uc010tai.1_Intron|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Intron|ABCB9_uc010taj.1_Intron|ABCB9_uc001udp.2_Intron|ABCB9_uc001udq.2_Intron	NM_019625	NP_062571			ATP-binding cassette, sub-family B (MDR/TAP),						positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124352404	124352404	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124352404delG	uc001uft.3	+							NM_207437	NP_997320			dynein, axonemal, heavy chain 10						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125438941	125438941	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125438941delT	uc001ugy.2	-						DHX37_uc001ugz.1_5'Flank	NM_032656	NP_116045			DEAH (Asp-Glu-Ala-His) box polypeptide 37								ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)														---	---	---	---
EP400NL	347918	broad.mit.edu	37	12	132610873	132610873	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132610873delT	uc001ujx.1	+											Homo sapiens cDNA FLJ33915 fis, clone CTONG2016658.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	13	19532155	19532155	+	IGR	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:19532155delG								LOC284232 (86046 upstream) : LOC348021 (50244 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	13	20449423	20449423	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20449423delA								ZMYM5 (11647 upstream) : ZMYM2 (83387 downstream)																																			---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20626552	20626552	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20626552delT	uc001umr.2	+						ZMYM2_uc001ums.2_Intron|ZMYM2_uc001umt.2_Intron|ZMYM2_uc010tco.1_Intron|ZMYM2_uc001umv.2_Intron|ZMYM2_uc001umw.2_Intron	NM_003453	NP_003444			zinc finger protein 198						regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)														---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21374614	21374614	+	Intron	DEL	A	-	-	rs77671650		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21374614delA	uc001unq.3	-							NM_022459	NP_071904			exportin 4						protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	21677699	21677699	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21677699delA								LATS2 (41977 upstream) : SAP18 (36954 downstream)																																			---	---	---	---
RPL21	6144	broad.mit.edu	37	13	27830554	27830554	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27830554delT	uc001ura.2	+							NM_000982	NP_000973			ribosomal protein L21						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)														---	---	---	---
ATP5EP2	432369	broad.mit.edu	37	13	28519334	28519334	+	5'Flank	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28519334delA	uc001uru.2	+							NR_002162				Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 (ATP5EP2), transcript variant 6, non-coding RNA.											ovary(1)	1																		---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28635910	28635910	+	Intron	DEL	A	-	-	rs78564726		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28635910delA	uc001urw.2	-						FLT3_uc010aao.2_Intron|FLT3_uc010tdn.1_Intron	NM_004119	NP_004110			fms-related tyrosine kinase 3 precursor						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32365922	32365922	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32365922delT	uc001utt.2	+						RXFP2_uc010aba.2_Intron	NM_130806	NP_570718			relaxin/insulin-like family peptide receptor 2							integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36202145	36202145	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36202145delA	uc001uvb.2	+						NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_Intron|NBEA_uc010teg.1_Intron|NBEA_uc001uvd.2_Intron	NM_015678	NP_056493			neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---
C13orf23	80209	broad.mit.edu	37	13	39603372	39603372	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39603372delT	uc001uwy.2	-						C13orf23_uc001uwz.2_Intron	NM_025138	NP_079414			hypothetical protein LOC80209 isoform 1											ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)														---	---	---	---
SUGT1L1	283507	broad.mit.edu	37	13	41486862	41486862	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41486862delA	uc001uxp.1	-						SUGT1L1_uc001uxq.2_Intron	NR_003365				Homo sapiens cDNA FLJ35913 fis, clone TESTI2010239.												0																		---	---	---	---
EPSTI1	94240	broad.mit.edu	37	13	43544616	43544616	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:43544616delA	uc001uyw.1	-						EPSTI1_uc001uyx.1_Intron	NM_001002264	NP_001002264			epithelial stromal interaction 1 isoform 1											ovary(1)	1		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)														---	---	---	---
LRCH1	23143	broad.mit.edu	37	13	47224214	47224214	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47224214delA	uc001vbj.2	+						LRCH1_uc010acp.2_Intron|LRCH1_uc001vbk.2_Intron|LRCH1_uc001vbl.3_Intron	NM_015116	NP_055931			leucine-rich repeats and calponin homology (CH)											ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)														---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49761878	49761878	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49761878delT	uc001vcm.2	+						FNDC3A_uc001vcn.2_Intron|FNDC3A_uc001vco.2_Intron|FNDC3A_uc001vcp.1_Intron|FNDC3A_uc001vcq.2_Intron	NM_001079673	NP_001073141			fibronectin type III domain containing 3A							Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)														---	---	---	---
RCBTB1	55213	broad.mit.edu	37	13	50141513	50141513	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50141513delA	uc001vde.1	-							NM_018191	NP_060661			regulator of chromosome condensation (RCC1) and						cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)														---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51517413	51517413	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:51517413delT	uc001vfa.3	+						RNASEH2B_uc001vfb.3_Intron	NM_024570	NP_078846			ribonuclease H2, subunit B isoform 1						RNA catabolic process	nucleus|ribonuclease H2 complex					0		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)														---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51527972	51527972	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:51527972delT	uc001vfa.3	+						RNASEH2B_uc001vfb.3_Intron	NM_024570	NP_078846			ribonuclease H2, subunit B isoform 1						RNA catabolic process	nucleus|ribonuclease H2 complex					0		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)														---	---	---	---
TDRD3	81550	broad.mit.edu	37	13	61057789	61057789	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:61057789delT	uc001via.2	+						TDRD3_uc010aef.2_Intron|TDRD3_uc001vhz.3_Intron|TDRD3_uc010aeg.2_Intron|TDRD3_uc001vib.3_Intron	NM_030794	NP_110421			tudor domain containing 3 isoform 2						chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)														---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75894317	75894317	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75894317delT	uc001vjl.1	-						TBC1D4_uc010aer.2_Intron|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647			TBC1 domain family, member 4							cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	77562857	77562857	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77562857delT								BTF3L1 (59634 upstream) : CLN5 (3202 downstream)																																			---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77644557	77644557	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77644557delT	uc001vkf.2	-						MYCBP2_uc010aev.2_Intron|MYCBP2_uc001vke.2_Intron	NM_015057	NP_055872			MYC binding protein 2						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)														---	---	---	---
CUL4A	8451	broad.mit.edu	37	13	113883617	113883617	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113883617delA	uc010tjy.1	+						CUL4A_uc010tjx.1_Intron|CUL4A_uc010agu.2_Intron|CUL4A_uc001vth.2_Intron|CUL4A_uc001vtj.2_Intron	NM_001008895	NP_001008895			cullin 4A isoform 1						cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)															---	---	---	---
TFDP1	7027	broad.mit.edu	37	13	114294635	114294635	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114294635delT	uc001vtw.2	+	12					TFDP1_uc010tkd.1_3'UTR|TFDP1_uc010tke.1_3'UTR|TFDP1_uc001vty.3_3'UTR|TFDP1_uc001vtx.2_3'UTR	NM_007111	NP_009042			transcription factor Dp-1						cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)												TSP Lung(29;0.18)			---	---	---	---
APEX1	328	broad.mit.edu	37	14	20925853	20925853	+	3'UTR	DEL	A	-	-	rs71824122		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20925853delA	uc001vxg.2	+	5					OSGEP_uc001vxf.2_5'Flank|APEX1_uc001vxh.2_3'UTR|APEX1_uc001vxi.2_3'UTR|APEX1_uc001vxj.2_3'UTR	NM_001641	NP_001632			APEX nuclease 1						base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			ovary(2)|breast(2)	4	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)	Lucanthone(DB04967)								Direct_reversal_of_damage|Other_BER_factors					---	---	---	---
Unknown	0	broad.mit.edu	37	14	22592119	22592119	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22592119delA	uc001wbw.2	+						uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Frame_Shift_Del_p.L68fs|uc010ajj.1_Frame_Shift_Del_p.L68fs|uc001wde.1_Frame_Shift_Del_p.L42fs|uc010aji.1_Frame_Shift_Del_p.L68fs					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22749756	22749756	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22749756delA	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc001wdj.2_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
HAUS4	54930	broad.mit.edu	37	14	23419353	23419353	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23419353delC	uc001whp.2	-						HAUS4_uc001who.2_Intron|HAUS4_uc001whq.2_Intron|HAUS4_uc001whr.2_Intron|HAUS4_uc001whs.2_Intron|HAUS4_uc001wht.2_Intron|HAUS4_uc001whu.2_Intron|HAUS4_uc001whv.2_Intron|HAUS4_uc001whw.2_Intron|HAUS4_uc001whx.2_Intron	NM_017815	NP_060285			HAUS augmin-like complex, subunit 4						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				ovary(1)	1																		---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31074613	31074613	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31074613delT	uc001wqk.2	+						G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Intron	NM_017769	NP_060239			G2/M-phase specific E3 ubiquitin ligase						apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
SCFD1	23256	broad.mit.edu	37	14	31112379	31112379	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31112379delA	uc001wqm.1	+						SCFD1_uc001wqn.1_Intron|SCFD1_uc010tpg.1_Intron|SCFD1_uc010tph.1_Intron|SCFD1_uc010amf.1_Intron|SCFD1_uc010tpi.1_Intron|SCFD1_uc010amd.1_Intron|SCFD1_uc010ame.1_Intron	NM_016106	NP_057190			vesicle transport-related protein isoform a						post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50655134	50655134	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50655134delA	uc001wxs.3	-						SOS2_uc010tql.1_Intron	NM_006939	NP_008870			son of sevenless homolog 2						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)																	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64427327	64427327	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64427327delT	uc001xgm.2	+						SYNE2_uc001xgk.2_Intron|SYNE2_uc001xgl.2_Intron	NM_015180	NP_055995			spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64496811	64496811	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64496811delA	uc001xgm.2	+						SYNE2_uc001xgl.2_Intron	NM_015180	NP_055995			spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
RAD51L1	5890	broad.mit.edu	37	14	68352877	68352877	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68352877delA	uc001xkf.1	+						RAD51L1_uc010aqq.2_Intron|RAD51L1_uc001xkd.2_Intron|RAD51L1_uc010aqr.2_Intron|RAD51L1_uc001xke.2_Intron|RAD51L1_uc010aqs.1_Intron|RAD51L1_uc001xkg.1_Intron	NM_133509	NP_598193			RAD51-like 1 isoform 3						blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0				UCEC - Uterine corpus endometrioid carcinoma (185;0.163)|all cancers(60;3.9e-06)|OV - Ovarian serous cystadenocarcinoma(108;0.000103)|BRCA - Breast invasive adenocarcinoma(234;0.000421)				T	HMGA2	lipoma|uterine leiomyoma			Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
DNAL1	83544	broad.mit.edu	37	14	74153808	74153808	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74153808delA	uc001xoq.3	+						DNAL1_uc010aru.2_Intron|DNAL1_uc010arv.2_Intron	NM_031427	NP_113615			axonemal dynein light chain 1												0				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)														---	---	---	---
COQ6	51004	broad.mit.edu	37	14	74424654	74424654	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74424654delT	uc001xph.2	+						COQ6_uc001xpe.2_Intron|COQ6_uc001xpf.2_Intron|COQ6_uc010tuk.1_Intron|COQ6_uc010tul.1_Intron|COQ6_uc010tum.1_Intron|COQ6_uc010tun.1_Intron|COQ6_uc001xpg.2_Intron	NM_182476	NP_872282			coenzyme Q6 homolog isoform a						ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.00337)														---	---	---	---
C14orf45	80127	broad.mit.edu	37	14	74532209	74532209	+	3'UTR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74532209delA	uc010tup.1	+	12					C14orf45_uc001xpm.1_Intron|ALDH6A1_uc001xpo.2_Intron|ALDH6A1_uc010asa.2_Intron|ALDH6A1_uc010tuq.1_Intron	NM_025057	NP_079333			hypothetical protein LOC80127												0				BRCA - Breast invasive adenocarcinoma(234;0.00351)														---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92555366	92555366	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92555366delT	uc001yac.3	-						ATXN3_uc010aug.2_Intron|ATXN3_uc001yad.3_Intron|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron	NM_004993	NP_004984			ataxin 3 reference isoform						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)														---	---	---	---
CPSF2	53981	broad.mit.edu	37	14	92623949	92623949	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92623949delT	uc001yah.1	+							NM_017437	NP_059133			cleavage and polyadenylation specific factor 2						histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)														---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102548312	102548312	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102548312delA	uc001yku.3	-						HSP90AA1_uc001ykv.3_Intron	NM_005348	NP_005339			heat shock 90kDa protein 1, alpha isoform 2						axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)													---	---	---	---
RAGE	5891	broad.mit.edu	37	14	102698300	102698300	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102698300delT	uc001ylm.2	-						RAGE_uc010txv.1_Intron|RAGE_uc001yln.2_Intron|RAGE_uc001ylh.2_Intron|RAGE_uc001yli.2_Intron|RAGE_uc001yll.2_Intron|RAGE_uc001ylj.2_Intron|RAGE_uc001ylk.2_Intron	NM_014226	NP_055041			MAPK/MAK/MRK overlapping kinase						signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104203919	104203920	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104203919_104203920insA	uc001yof.1	-						PPP1R13B_uc010awv.1_Intron	NM_015316	NP_056131			apoptosis-stimulating protein of p53, 1						apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)																---	---	---	---
C14orf2	9556	broad.mit.edu	37	14	104381692	104381692	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104381692delT	uc001yoi.3	-						C14orf2_uc001yoj.3_Intron|C14orf2_uc010aww.1_Intron|C14orf2_uc001yok.2_Intron	NM_004894	NP_004885			6.8 kDa mitochondrial proteolipid isoform 1							mitochondrion					0				Epithelial(152;0.223)														---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104642560	104642560	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104642560delC	uc001yos.3	+	12	3435	c.3435delC	c.(3433-3435)GGCfs	p.G1145fs		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1145					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)														---	---	---	---
C14orf180	400258	broad.mit.edu	37	14	105054103	105054103	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105054103delC	uc001yow.1	+	3	430	c.129delC	c.(127-129)TGCfs	p.C43fs	C14orf180_uc010tyh.1_Frame_Shift_Del_p.C43fs|C14orf180_uc010awy.1_Frame_Shift_Del_p.C43fs	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	hypothetical protein LOC400258	43						integral to membrane					0		Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)														---	---	---	---
INF2	64423	broad.mit.edu	37	14	105174185	105174185	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105174185delC	uc001ypb.2	+	8	1724	c.1581delC	c.(1579-1581)AGCfs	p.S527fs	INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)														---	---	---	---
Unknown	0	broad.mit.edu	37	15	20710852	20710852	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:20710852delG	uc001ytg.2	-						uc010tyx.1_5'Flank|uc001yth.3_Intron					RecName: Full=Putative HERC2-like protein 3;																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	22152175	22152176	+	IGR	INS	-	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22152175_22152176insG								CXADRP2 (135297 upstream) : LOC727924 (125856 downstream)																																			---	---	---	---
GOLGA6L1	283767	broad.mit.edu	37	15	22742372	22742372	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22742372delA	uc010tzx.1	+						uc010tzy.1_5'Flank	NM_001001413	NP_001001413			golgi autoantigen, golgin subfamily a, 6-like 1												0																		---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28473276	28473277	+	Intron	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28473276_28473277delAA	uc001zbj.2	-							NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
Unknown	0	broad.mit.edu	37	15	28913367	28913367	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28913367delT	uc010azc.2	+						uc010uao.1_Intron					Homo sapiens I.M.A.G.E. clone 321824, mRNA sequence.																														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31353862	31353862	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31353862delT	uc001zfm.2	-						TRPM1_uc010azy.2_Intron|TRPM1_uc001zfl.2_Intron	NM_002420	NP_002411			transient receptor potential cation channel,						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33180571	33180571	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33180571delA	uc001zhf.3	-							NM_001103184	NP_001096654			formin 1						actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33923503	33923503	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33923503delT	uc001zhi.2	+						RYR3_uc010bar.2_Intron	NM_001036	NP_001027			ryanodine receptor 3						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)														---	---	---	---
AVEN	57099	broad.mit.edu	37	15	34158800	34158800	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34158800delT	uc001zhj.2	-	6						NM_020371	NP_065104			cell death regulator aven						anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)														---	---	---	---
ATPBD4	89978	broad.mit.edu	37	15	35834517	35834517	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35834517delT	uc001zja.2	-						ATPBD4_uc001ziz.2_Intron|ATPBD4_uc001zjb.2_Intron	NM_080650	NP_542381			ATP binding domain 4 isoform 1												0		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)														---	---	---	---
FAM82A2	55177	broad.mit.edu	37	15	41029060	41029060	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41029060delT	uc001zmo.1	-						FAM82A2_uc001zmp.1_Intron|FAM82A2_uc001zmq.1_Intron	NM_018145	NP_060615			family with sequence similarity 82, member A2						apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0																		---	---	---	---
DNAJC17	55192	broad.mit.edu	37	15	41068948	41068948	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41068948delC	uc001zms.1	-						DNAJC17_uc010bbz.1_Intron|DNAJC17_uc010bca.1_Intron|DNAJC17_uc010bcb.1_Intron	NM_018163	NP_060633			DnaJ (Hsp40) homolog, subfamily C, member 17						protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)														---	---	---	---
NUSAP1	51203	broad.mit.edu	37	15	41657842	41657842	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41657842delA	uc001zns.3	+						NUSAP1_uc001znq.3_Intron|NUSAP1_uc001znr.3_Intron|NUSAP1_uc010bce.2_Intron|NUSAP1_uc001znt.3_Intron|NUSAP1_uc001znv.3_Intron|NUSAP1_uc001znu.3_Intron|NUSAP1_uc010ucw.1_Intron|NUSAP1_uc001znw.3_Intron	NM_016359	NP_057443			nucleolar and spindle associated protein 1						cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)														---	---	---	---
CATSPER2	117155	broad.mit.edu	37	15	43927354	43927354	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43927354delT	uc001zsh.2	-						STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Intron|CATSPER2_uc001zsi.2_Intron|CATSPER2_uc001zsj.2_Intron	NM_172095	NP_742093			sperm-associated cation channel 2 isoform 2						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)												OREG0003957	type=REGULATORY REGION|Gene=AK093318|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44887360	44887360	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44887360delA	uc001ztx.2	-						SPG11_uc010ueh.1_Intron|SPG11_uc010uei.1_Intron|SPG11_uc001zty.1_Intron	NM_025137	NP_079413			spatacsin isoform 1						cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)														---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48500526	48500526	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48500526delT	uc001zwn.3	+						SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Intron|SLC12A1_uc010uex.1_Intron	NM_000338	NP_000329			sodium potassium chloride cotransporter 2						potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)													---	---	---	---
AP4E1	23431	broad.mit.edu	37	15	51221550	51221550	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51221550delT	uc001zyx.1	+						AP4E1_uc010ufi.1_Intron|AP4E1_uc010ufj.1_Intron|AP4E1_uc010ufk.1_Intron	NM_007347	NP_031373			adaptor-related protein complex 4, epsilon 1						intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51748025	51748026	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51748025_51748026insT	uc002abf.2	-						DMXL2_uc002abd.2_Intron|DMXL2_uc010ufy.1_Intron|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078			Dmx-like 2							cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
TMOD3	29766	broad.mit.edu	37	15	52201131	52201131	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52201131delT	uc002abm.2	+	10					TMOD3_uc010bfc.1_Intron|TMOD3_uc002abn.2_5'Flank	NM_014547	NP_055362			tropomodulin 3 (ubiquitous)							cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1				all cancers(107;0.00194)														---	---	---	---
WDR72	256764	broad.mit.edu	37	15	54003354	54003355	+	Intron	INS	-	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54003354_54003355insC	uc002acj.2	-						WDR72_uc010bfi.1_Intron	NM_182758	NP_877435			WD repeat domain 72											lung(1)|skin(1)	2				all cancers(107;0.0511)														---	---	---	---
PYGO1	26108	broad.mit.edu	37	15	55841207	55841209	+	Intron	DEL	AAT	-	-	rs76876528		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55841207_55841209delAAT	uc010bfl.1	-						PYGO1_uc002adf.1_Intron	NM_015617	NP_056432			pygopus homolog 1						Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)														---	---	---	---
ADAM10	102	broad.mit.edu	37	15	58913462	58913472	+	Intron	DEL	AAAAAAAAAAA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:58913462_58913472delAAAAAAAAAAA	uc002afd.1	-						ADAM10_uc010bgc.1_Intron|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Intron	NM_001110	NP_001101			ADAM metallopeptidase domain 10 precursor						cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)														---	---	---	---
GTF2A2	2958	broad.mit.edu	37	15	59942804	59942804	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59942804delA	uc002agg.2	-							NM_004492	NP_004483			general transcription factor IIA, 2, 12kDa						interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	62538894	62538894	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62538894delA	uc002ain.1	-						uc002ajj.1_Intron|uc002ajq.2_RNA|uc002ajr.1_5'Flank|uc010uhp.1_5'Flank|uc002ajt.2_5'Flank|uc002ajw.2_5'Flank|uc010uhq.1_5'Flank|uc002ajx.2_5'Flank|uc002ajy.2_5'Flank					Homo sapiens cDNA FLJ38723 fis, clone KIDNE2010137, weakly similar to GOLGIN-95.																														---	---	---	---
DAPK2	23604	broad.mit.edu	37	15	64275696	64275696	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64275696delC	uc002amr.2	-						DAPK2_uc010uim.1_Intron|DAPK2_uc010bgu.1_Intron	NM_014326	NP_055141			death-associated kinase 2						apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2				LUAD - Lung adenocarcinoma(2;0.215)														---	---	---	---
TRIP4	9325	broad.mit.edu	37	15	64686385	64686385	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64686385delT	uc002anm.2	+							NM_016213	NP_057297			thyroid hormone receptor interactor 4						positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
TRIP4	9325	broad.mit.edu	37	15	64702168	64702168	+	Intron	DEL	G	-	-	rs10468032	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64702168delG	uc002anm.2	+							NM_016213	NP_057297			thyroid hormone receptor interactor 4						positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
PDCD7	10081	broad.mit.edu	37	15	65411613	65411613	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65411613delA	uc002aol.2	-							NM_005707	NP_005698			programmed cell death 7						apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex					0																		---	---	---	---
CLPX	10845	broad.mit.edu	37	15	65447556	65447556	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65447556delA	uc002aom.2	-						CLPX_uc010uiu.1_Intron	NM_006660	NP_006651			ClpX caseinolytic protease X homolog precursor						protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0																		---	---	---	---
CLN6	54982	broad.mit.edu	37	15	68500398	68500398	+	3'UTR	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68500398delC	uc002arf.2	-	7					CALML4_uc002arb.2_5'Flank|CALML4_uc002arc.2_5'Flank|CALML4_uc002ard.2_5'Flank|CALML4_uc002are.2_5'Flank|CALML4_uc010bhz.2_5'Flank|CLN6_uc010ujy.1_3'UTR|CLN6_uc010ujz.1_3'UTR	NM_017882	NP_060352			CLN6 protein						cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0																		---	---	---	---
UACA	55075	broad.mit.edu	37	15	70971793	70971793	+	Intron	DEL	A	-	-	rs113009669		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70971793delA	uc002asr.2	-						UACA_uc010uke.1_Intron|UACA_uc002asq.2_Intron|UACA_uc010bin.1_Intron	NM_018003	NP_060473			uveal autoantigen with coiled-coil domains and							cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71188413	71188413	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:71188413delT	uc002asw.2	+						LRRC49_uc002asu.2_Intron|LRRC49_uc002asx.2_Intron|LRRC49_uc010ukf.1_Intron|LRRC49_uc002asy.2_Intron|LRRC49_uc002asz.2_Intron	NM_017691	NP_060161			leucine rich repeat containing 49							cytoplasm|microtubule				ovary(1)	1																		---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74865018	74865018	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74865018delA	uc002aye.2	+						ARID3B_uc002ayc.2_Intron|ARID3B_uc002ayd.2_Intron	NM_006465	NP_006456			AT rich interactive domain 3B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84690439	84690439	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:84690439delT	uc002bjz.3	+						ADAMTSL3_uc010bmt.1_Intron|ADAMTSL3_uc010bmu.1_Intron	NM_207517	NP_997400			ADAMTS-like 3 precursor							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)															---	---	---	---
Unknown	0	broad.mit.edu	37	15	84911363	84911363	+	5'Flank	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:84911363delA	uc010uov.1	-						uc010uow.1_5'Flank					DQ594729																														---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88670279	88670279	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88670279delT	uc002bme.1	-						NTRK3_uc002bmh.2_Intron|NTRK3_uc002bmf.1_Intron|NTRK3_uc010upl.1_Intron|NTRK3_uc010bnh.1_Intron|NTRK3_uc002bmg.2_Intron	NM_001012338	NP_001012338			neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)					T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			---	---	---	---
ZNF774	342132	broad.mit.edu	37	15	90898036	90898037	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90898036_90898037insT	uc002bpk.3	+							NM_001004309	NP_001004309			zinc finger protein 774						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93557783	93557783	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93557783delT	uc002bsp.2	+						CHD2_uc002bso.1_Intron	NM_001271	NP_001262			chromodomain helicase DNA binding protein 2						regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99500476	99500476	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99500476delC	uc002bul.2	+	21	3959	c.3909delC	c.(3907-3909)GTCfs	p.V1303fs	IGF1R_uc010bon.2_Frame_Shift_Del_p.V1302fs	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1303	Cytoplasmic (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)													---	---	---	---
CLCN7	1186	broad.mit.edu	37	16	1501517	1501518	+	Intron	INS	-	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1501517_1501518insC	uc002clv.2	-						CLCN7_uc002clu.2_5'Flank|CLCN7_uc002clw.2_Intron	NM_001287	NP_001278			chloride channel 7 isoform a							integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)																---	---	---	---
C16orf71	146562	broad.mit.edu	37	16	4788056	4788057	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4788056_4788057delTT	uc002cxn.2	+							NM_139170	NP_631909			hypothetical protein LOC146562											central_nervous_system(1)	1																		---	---	---	---
MKL2	57496	broad.mit.edu	37	16	14312561	14312561	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14312561delT	uc010uza.1	+						MKL2_uc002dcg.2_Intron|MKL2_uc002dch.2_Intron|MKL2_uc010uzb.1_Intron	NM_014048	NP_054767			megakaryoblastic leukemia 2 protein						cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15870226	15870226	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15870226delA	uc002ddy.2	-						MYH11_uc002ddv.2_Intron|MYH11_uc002ddw.2_Intron|MYH11_uc002ddx.2_Intron|MYH11_uc010bvg.2_Intron|MYH11_uc002dea.1_Intron	NM_002474	NP_002465			smooth muscle myosin heavy chain 11 isoform						axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15								T	CBFB	AML								---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18895528	18895528	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18895528delA	uc002dfm.2	-						SMG1_uc010bwb.2_Intron	NM_015092	NP_055907			PI-3-kinase-related kinase SMG-1						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																		---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20429352	20429352	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20429352delT	uc002dhe.2	+						ACSM5_uc002dhd.1_Intron	NM_017888	NP_060358			acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	21598985	21598985	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21598985delT	uc002diq.3	+											Homo sapiens cDNA FLJ59829 complete cds.																														---	---	---	---
OTOA	146183	broad.mit.edu	37	16	21690724	21690725	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21690724_21690725insT	uc002djh.2	+						uc002diq.3_Intron	NM_144672	NP_653273			otoancorin isoform 1						sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)														---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23382881	23382881	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23382881delC	uc002dln.2	+							NM_000336	NP_000327			sodium channel, nonvoltage-gated 1, beta						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)													---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24874160	24874160	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24874160delA	uc002dmu.2	+						SLC5A11_uc002dms.2_Intron|SLC5A11_uc010vcd.1_Intron|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Intron|SLC5A11_uc010bxt.2_Intron	NM_052944	NP_443176			solute carrier family 5 (sodium/glucose						apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)														---	---	---	---
XPO6	23214	broad.mit.edu	37	16	28118592	28118593	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28118592_28118593insA	uc002dpa.1	-						XPO6_uc002dpb.1_Intron|XPO6_uc010vcp.1_Intron	NM_015171	NP_055986			exportin 6						protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
PRRT2	112476	broad.mit.edu	37	16	29825016	29825016	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29825016delC	uc002due.3	+	2	942	c.641delC	c.(640-642)GCCfs	p.A214fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Frame_Shift_Del_p.A214fs|PRRT2_uc002duf.1_Frame_Shift_Del_p.A214fs|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	214	Extracellular (Potential).|Pro-rich.			A -> AP (in Ref. 3; CAD38881).	response to biotic stimulus	integral to membrane					0																		---	---	---	---
LOC595101	595101	broad.mit.edu	37	16	30291742	30291742	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30291742delA	uc002dxp.1	-							NR_002453				Homo sapiens cDNA FLJ39663 fis, clone SMINT2007187.												0																		---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47598882	47598883	+	Intron	DEL	TC	-	-	rs71134543		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47598882_47598883delTC	uc002eev.3	+						PHKB_uc002eeu.3_Intron	NM_000293	NP_000284			phosphorylase kinase, beta isoform a						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)																---	---	---	---
ESRP2	80004	broad.mit.edu	37	16	68269735	68269736	+	Intron	DEL	CT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68269735_68269736delCT	uc010cfa.1	-						ESRP2_uc002evq.1_Intron	NM_024939	NP_079215			RNA binding motif protein 35B						mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1																		---	---	---	---
CLEC18C	283971	broad.mit.edu	37	16	70066043	70066043	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70066043delA	uc002exy.2	+						PDXDC2_uc002eyb.2_Intron|PDXDC2_uc002eyc.2_Intron	NM_182619	NP_872425			secretory protein LOC348174 precursor							extracellular region	sugar binding				0																		---	---	---	---
VAC14	55697	broad.mit.edu	37	16	70765775	70765775	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70765775delA	uc002ezm.2	-						VAC14_uc010cfw.2_Intron|VAC14_uc002ezn.2_Intron|VAC14_uc002ezl.2_5'Flank|VAC14_uc010cfx.1_Intron	NM_018052	NP_060522			Vac14 homolog						interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)																---	---	---	---
MLKL	197259	broad.mit.edu	37	16	74719239	74719239	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74719239delA	uc002fdb.2	-						MLKL_uc002fdc.2_Intron	NM_152649	NP_689862			mixed lineage kinase domain-like isoform 1								ATP binding|protein binding|protein kinase activity			stomach(2)	2																		---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84066667	84066668	+	Intron	DEL	TC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84066667_84066668delTC	uc002fhg.1	-							NM_001080442	NP_001073911			solute carrier family 38, member 8						amino acid transport|sodium ion transport	integral to membrane					0																		---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84101130	84101131	+	Intron	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84101130_84101131insT	uc002fhi.2	-						MBTPS1_uc002fhh.2_Intron	NM_003791	NP_003782			membrane-bound transcription factor site-1						cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
ATP2C2	9914	broad.mit.edu	37	16	84456440	84456440	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84456440delT	uc002fhx.2	+						ATP2C2_uc010chj.2_Intron|ATP2C2_uc002fhy.2_Intron|ATP2C2_uc002fhz.2_Intron	NM_014861	NP_055676			ATPase, Ca++ transporting, type 2C, member 2						ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---
RPL13	6137	broad.mit.edu	37	16	89629119	89629119	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89629119delT	uc002fnm.1	+						RPL13_uc010vpj.1_Intron|RPL13_uc002fnn.1_Intron|RPL13_uc002fno.1_Intron	NM_000977	NP_000968			ribosomal protein L13						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	protein binding|RNA binding|structural constituent of ribosome				0		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)														---	---	---	---
CDK10	8558	broad.mit.edu	37	16	89755516	89755516	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89755516delA	uc010cio.2	+						CDK10_uc002foa.2_Intron|CDK10_uc010cip.2_Intron|CDK10_uc010vpl.1_Intron|CDK10_uc002fob.2_Intron|CDK10_uc002fod.2_Intron|CDK10_uc002foe.2_Intron|CDK10_uc002fof.2_Intron|CDK10_uc002fog.3_Intron|CDK10_uc002foh.3_Intron	NM_052988	NP_443714			cyclin-dependent kinase 10 isoform a						negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)														---	---	---	---
PITPNA	5306	broad.mit.edu	37	17	1442417	1442417	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1442417delT	uc002fst.3	-						PITPNA_uc010cjt.2_Intron|PITPNA_uc010cju.2_Intron	NM_006224	NP_006215			phosphatidylinositol transfer protein, alpha						axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)														---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1798593	1798593	+	Intron	DEL	G	-	-	rs76957189	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1798593delG	uc002fto.2	+							NM_002945	NP_002936			replication protein A1						cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding				0													NER					---	---	---	---
SLC13A5	284111	broad.mit.edu	37	17	6607062	6607062	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6607062delT	uc002gdj.2	-						SLC13A5_uc010vtf.1_Intron|SLC13A5_uc010clq.2_Intron|SLC13A5_uc002gdk.2_Intron|SLC13A5_uc002gdl.1_Intron	NM_177550	NP_808218			solute carrier family 13, member 5 isoform a							integral to membrane	citrate transmembrane transporter activity				0																		---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7805739	7805739	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7805739delA	uc002gje.2	+						CHD3_uc002gjd.2_Intron|CHD3_uc002gjf.2_Intron|CHD3_uc002gjh.2_5'Flank	NM_001005273	NP_001005273			chromodomain helicase DNA binding protein 3						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)																---	---	---	---
RICH2	9912	broad.mit.edu	37	17	12860161	12860162	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:12860161_12860162delTT	uc002gnr.3	+						RICH2_uc010vvk.1_Intron|RICH2_uc010vvl.1_Intron|RICH2_uc002gns.3_Intron|RICH2_uc010vvm.1_Intron|RICH2_uc010vvn.1_Intron|RICH2_uc002gnt.1_Intron	NM_014859	NP_055674			Rho GTPase-activating protein RICH2						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0																		---	---	---	---
COPS3	8533	broad.mit.edu	37	17	17167902	17167902	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17167902delC	uc002grd.2	-						COPS3_uc010vwv.1_Intron|COPS3_uc010vww.1_Intron	NM_003653	NP_003644			COP9 constitutive photomorphogenic homolog						cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			skin(1)	1																		---	---	---	---
USP22	23326	broad.mit.edu	37	17	20921190	20921190	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:20921190delT	uc002gym.3	-						USP22_uc002gyn.3_Intron|USP22_uc002gyl.3_Intron	NM_015276	NP_056091			ubiquitin thiolesterase 22						cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	17	21408394	21408394	+	IGR	DEL	A	-	-	rs141315490		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21408394delA								KCNJ12 (85215 upstream) : C17orf51 (23178 downstream)																																			---	---	---	---
PIGS	94005	broad.mit.edu	37	17	26882987	26882987	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26882987delA	uc002hbo.2	-						PIGS_uc002hbn.2_Intron|PIGS_uc010wap.1_Intron	NM_033198	NP_149975			phosphatidylinositol glycan anchor biosynthesis,						attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)																	---	---	---	---
Unknown	0	broad.mit.edu	37	17	30330017	30330017	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30330017delA								SUZ12 (1960 upstream) : LRRC37B (5020 downstream)																																			---	---	---	---
SNORD7	692076	broad.mit.edu	37	17	33900515	33900515	+	5'Flank	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33900515delA	uc002hjo.1	+							NR_003037				Homo sapiens small nucleolar RNA, C/D box 7 (SNORD7), non-coding RNA.												0																		---	---	---	---
MED24	9862	broad.mit.edu	37	17	38191237	38191237	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38191237delA	uc002htt.2	-						MED24_uc010wes.1_Intron|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Intron|MED24_uc002htu.2_Intron|MED24_uc010cwn.2_Intron|MED24_uc010weu.1_Intron|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Intron|MED24_uc010wfb.1_Intron|MED24_uc010wfc.1_Intron	NM_014815	NP_055630			mediator complex subunit 24 isoform 1						androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			ovary(1)	1	Colorectal(19;0.000442)																	---	---	---	---
TOP2A	7153	broad.mit.edu	37	17	38572397	38572397	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38572397delA	uc002huq.2	-							NM_001067	NP_001058			DNA topoisomerase II, alpha isozyme						apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)													---	---	---	---
KRT23	25984	broad.mit.edu	37	17	39079111	39079111	+	3'UTR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39079111delA	uc002hvm.1	-	9					KRT23_uc010wfl.1_3'UTR|KRT23_uc010cxf.1_3'UTR	NM_015515	NP_056330			keratin 23							intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)																---	---	---	---
DHX8	1659	broad.mit.edu	37	17	41573761	41573761	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41573761delA	uc002idu.1	+						DHX8_uc010wif.1_Intron|DHX8_uc010wig.1_Intron	NM_004941	NP_004932			DEAH (Asp-Glu-Ala-His) box polypeptide 8							catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)														---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43192644	43192644	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43192644delC	uc002iib.2	-							NM_133373	NP_588614			phospholipase C delta 3						intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
CDC27	996	broad.mit.edu	37	17	45215987	45215987	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45215987delA	uc002ild.3	-						CDC27_uc002ile.3_Intron|CDC27_uc002ilf.3_Intron|CDC27_uc010wkp.1_Intron|CDC27_uc010wkq.1_Intron	NM_001256	NP_001247			cell division cycle protein 27 isoform 2						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5																		---	---	---	---
ABI3	51225	broad.mit.edu	37	17	47295005	47295005	+	Intron	DEL	C	-	-	rs113223751		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47295005delC	uc002iop.1	+						ABI3_uc002ioq.1_Intron	NM_016428	NP_057512			NESH protein isoform 1						cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)												HNSCC(55;0.14)			---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56647529	56647529	+	Intron	DEL	A	-	-	rs76999958		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56647529delA	uc010dcz.1	-						TEX14_uc002iwr.1_Intron|TEX14_uc002iws.1_Intron|TEX14_uc010dda.1_Intron	NM_198393	NP_938207			testis expressed sequence 14 isoform a							cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
SKA2	348235	broad.mit.edu	37	17	57232751	57232752	+	5'UTR	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57232751_57232752delTT	uc002ixd.2	-	1					PRR11_uc002ixf.1_5'Flank|PRR11_uc002ixg.1_5'Flank|SKA2_uc010dde.1_5'UTR|SKA2_uc002ixe.2_RNA	NM_182620	NP_872426			spindle and KT associated 2 isoform 1						cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0																		---	---	---	---
BRIP1	83990	broad.mit.edu	37	17	59760492	59760492	+	3'UTR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59760492delA	uc002izk.1	-	20						NM_032043	NP_114432			BRCA1 interacting protein C-terminal helicase 1						DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1								F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60802634	60802634	+	Intron	DEL	T	-	-	rs67409327		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60802634delT	uc010ddr.2	-						MARCH10_uc002jag.3_Intron|MARCH10_uc010dds.2_Intron|MARCH10_uc002jah.2_Intron|uc002jaj.1_Intron|uc002jak.2_Intron	NM_001100875	NP_001094345			ring finger protein 190								ligase activity|zinc ion binding				0																		---	---	---	---
SMURF2	64750	broad.mit.edu	37	17	62594752	62594752	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62594752delA	uc002jep.1	-						SMURF2_uc002jeq.1_Intron|SMURF2_uc002jer.1_Intron	NM_022739	NP_073576			SMAD specific E3 ubiquitin protein ligase 2						BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)															---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67189890	67189891	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67189890_67189891insA	uc010dfa.1	-						ABCA10_uc010wqt.1_Intron|ABCA10_uc010dfb.1_Intron	NM_080282	NP_525021			ATP-binding cassette, sub-family A, member 10						transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)																	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80037561	80037561	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80037561delT	uc002kdu.2	-						FASN_uc002kdv.1_Intron	NM_004104	NP_004095			fatty acid synthase						energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)													---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80152186	80152186	+	Intron	DEL	T	-	-	rs35785177		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80152186delT	uc002kdz.1	-						CCDC57_uc002kdx.1_Intron	NM_198082	NP_932348			coiled-coil domain containing 57											ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)															---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80878413	80878413	+	Intron	DEL	T	-	-	rs3214869		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80878413delT	uc002kfz.2	+						TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kgb.1_Intron	NM_005993	NP_005984			beta-tubulin cofactor D						'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)															---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3085192	3085192	+	Intron	DEL	T	-	-	rs148266515		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3085192delT	uc002klp.2	-						MYOM1_uc002klq.2_Intron	NM_003803	NP_003794			myomesin 1 isoform a							striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3134954	3134954	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3134954delT	uc002klp.2	-						MYOM1_uc002klq.2_Intron	NM_003803	NP_003794			myomesin 1 isoform a							striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13103410	13103410	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13103410delT	uc010xac.1	+						CEP192_uc010dlf.1_Intron|CEP192_uc010xad.1_Intron|CEP192_uc002kru.2_Intron|CEP192_uc002krv.2_Intron|CEP192_uc002krw.2_Intron|CEP192_uc002krx.2_Intron|CEP192_uc002kry.2_Intron	NM_032142	NP_115518			centrosomal protein 192kDa											ovary(4)|pancreas(1)	5																		---	---	---	---
ZNF519	162655	broad.mit.edu	37	18	14124177	14124180	+	Intron	DEL	AAAA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:14124177_14124180delAAAA	uc002kst.1	-						ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330			zinc finger protein 519						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
NPC1	4864	broad.mit.edu	37	18	21127742	21127742	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21127742delT	uc002kum.3	-						NPC1_uc010xaz.1_Intron|NPC1_uc010xba.1_Intron	NM_000271	NP_000262			Niemann-Pick disease, type C1 precursor						autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)																	---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30349570	30349570	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30349570delC	uc002kxm.1	-							NM_020805	NP_065856			kelch-like 14							cytosol|endoplasmic reticulum membrane				ovary(1)	1																		---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32405028	32405028	+	Intron	DEL	T	-	-	rs77685796		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32405028delT	uc010dmn.1	+						DTNA_uc002kxu.2_Intron|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc002kxx.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dmk.1_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Intron|DTNA_uc010dmm.2_Intron|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Intron|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	NM_001390	NP_001381			dystrobrevin alpha isoform 1						neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0																		---	---	---	---
KIAA1328	57536	broad.mit.edu	37	18	34465500	34465500	+	Intron	DEL	T	-	-	rs33942453		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34465500delT	uc002kzz.2	+							NM_020776	NP_065827			hypothetical protein LOC57536											central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)														---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39617537	39617537	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:39617537delT	uc002lap.2	+						PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002laq.2_Intron|PIK3C3_uc002lar.1_5'Flank	NM_002647	NP_002638			catalytic phosphatidylinositol 3-kinase 3						cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10															TSP Lung(28;0.18)			---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43437669	43437670	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43437669_43437670delTT	uc002lbm.2	-							NM_020964	NP_066015			hypothetical protein LOC57724						autophagy						0																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43468063	43468063	+	Intron	DEL	T	-	-	rs1075748		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43468063delT	uc002lbm.2	-						KIAA1632_uc010xcq.1_Intron|KIAA1632_uc010xcr.1_Intron|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Intron	NM_020964	NP_066015			hypothetical protein LOC57724						autophagy						0																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43529365	43529365	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43529365delT	uc002lbm.2	-						KIAA1632_uc002lbo.1_Intron	NM_020964	NP_066015			hypothetical protein LOC57724						autophagy						0																		---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47438271	47438271	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47438271delT	uc002leb.2	-							NM_001080467	NP_001073936			myosin VB						protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---
MRO	83876	broad.mit.edu	37	18	48335511	48335512	+	Intron	DEL	TC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48335511_48335512delTC	uc002lew.3	-						MRO_uc010xdn.1_Intron|MRO_uc010dpa.2_Intron|MRO_uc010dpb.2_Intron|MRO_uc010dpc.2_Intron|MRO_uc002lex.3_Intron	NM_031939	NP_114145			maestro isoform a							nucleolus	binding				0		Colorectal(6;0.0596)		Colorectal(21;0.082)														---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48581091	48581091	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48581091delT	uc010xdp.1	+						SMAD4_uc010xdo.1_Intron|SMAD4_uc002lfb.3_5'UTR	NM_005359	NP_005350			mothers against decapentaplegic homolog 4						BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(3)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)										Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
DCC	1630	broad.mit.edu	37	18	50961733	50961734	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:50961733_50961734insA	uc002lfe.1	+						DCC_uc010dpf.1_Intron	NM_005215	NP_005206			netrin receptor DCC precursor						apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---
Unknown	0	broad.mit.edu	37	18	57445696	57445696	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57445696delA								CCBE1 (81052 upstream) : PMAIP1 (121496 downstream)																																			---	---	---	---
KIAA1468	57614	broad.mit.edu	37	18	59925008	59925008	+	Intron	DEL	A	-	-	rs79682519		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59925008delA	uc002lil.2	+						KIAA1468_uc002lik.1_Intron|KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron	NM_020854	NP_065905			hypothetical protein LOC57614								binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)																---	---	---	---
ADAMTSL5	339366	broad.mit.edu	37	19	1507951	1507951	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1507951delG	uc002ltd.2	-						ADAMTSL5_uc010dsl.2_Intron|ADAMTSL5_uc010xgq.1_Intron	NM_213604	NP_998769			ADAMTS-like 5 precursor							proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)														---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2339743	2339743	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2339743delC	uc002lvs.2	+						SPPL2B_uc010dsw.1_Intron|SPPL2B_uc010dsy.1_Intron|SPPL2B_uc010dsz.1_Intron|SPPL2B_uc002lvr.2_Intron|SPPL2B_uc010dta.1_Intron|SPPL2B_uc002lvu.2_5'UTR	NM_152988	NP_694533			signal peptide peptidase-like 2B isoform 2							Golgi membrane|integral to membrane	aspartic-type endopeptidase 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)														---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5594281	5594281	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5594281delA	uc002mcd.2	-							NM_014649	NP_055464			scaffold attachment factor B2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)														---	---	---	---
TMEM146	257062	broad.mit.edu	37	19	5727207	5727207	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5727207delA	uc002mda.2	+						TMEM146_uc010duj.1_Intron	NM_152784	NP_689997			transmembrane protein 146 precursor							integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
TMEM146	257062	broad.mit.edu	37	19	5752009	5752009	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5752009delA	uc002mda.2	+						TMEM146_uc010duj.1_Intron	NM_152784	NP_689997			transmembrane protein 146 precursor							integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
KHSRP	8570	broad.mit.edu	37	19	6418140	6418141	+	Intron	INS	-	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6418140_6418141insC	uc002mer.3	-							NM_003685	NP_003676			KH-type splicing regulatory protein						mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1																OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TIMM44	10469	broad.mit.edu	37	19	8005854	8005854	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8005854delC	uc002miz.2	-						TIMM44_uc002mja.2_Intron|TIMM44_uc010dvx.1_Intron	NM_006351	NP_006342			translocase of inner mitochondrial membrane 44						protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1																		---	---	---	---
ZNF699	374879	broad.mit.edu	37	19	9415943	9415944	+	5'Flank	DEL	AC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9415943_9415944delAC	uc002mlc.1	-							NM_198535	NP_940937			zinc finger protein 699						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9451724	9451724	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9451724delT	uc002mlg.2	+						ZNF559_uc002mlf.2_Intron|ZNF559_uc010dwl.1_Intron|ZNF559_uc010xkn.1_Intron|ZNF559_uc010dwm.1_Intron|ZNF559_uc002mle.3_Intron|ZNF559_uc010dwk.1_Intron|ZNF559_uc002mld.2_Intron|ZNF559_uc010dwo.1_Intron|ZNF559_uc002mlh.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886			zinc finger protein 559						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
FBXL12	54850	broad.mit.edu	37	19	9931194	9931194	+	5'Flank	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9931194delA	uc002mme.2	-						FBXL12_uc002mmd.2_5'Flank|FBXL12_uc002mmf.2_5'Flank|FBXL12_uc002mmg.2_5'Flank|FBXL12_uc002mmh.2_Intron	NM_017703	NP_060173			F-box and leucine-rich repeat protein 12								protein binding			lung(1)|kidney(1)	2																		---	---	---	---
ICAM4	3386	broad.mit.edu	37	19	10397719	10397719	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10397719delT	uc002mns.1	+	1	70	c.31delT	c.(31-33)TTTfs	p.F11fs	ICAM4_uc002mnr.1_Frame_Shift_Del_p.F11fs|ICAM4_uc002mnt.1_Frame_Shift_Del_p.F11fs|ICAM5_uc002mnu.3_5'Flank	NM_001544	NP_001535	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 isoform 1	11					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)															---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11144368	11144368	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11144368delT	uc002mqf.3	+						SMARCA4_uc010dxp.2_Intron|SMARCA4_uc010dxo.2_Intron|SMARCA4_uc010dxq.2_Intron|SMARCA4_uc010dxr.2_Intron|SMARCA4_uc002mqj.3_Intron|SMARCA4_uc010dxs.2_Intron|SMARCA4_uc010dxt.1_Intron|SMARCA4_uc002mqh.3_Intron|SMARCA4_uc002mqi.1_Intron	NM_003072	NP_003063			SWI/SNF-related matrix-associated						chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)						F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				---	---	---	---
LDLR	3949	broad.mit.edu	37	19	11200332	11200332	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11200332delC	uc002mqk.3	+						LDLR_uc010xlk.1_Intron|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Intron	NM_000527	NP_000518			low density lipoprotein receptor precursor						cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)													---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488472	11488473	+	3'UTR	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11488472_11488473insA	uc002mrh.2	-	2										SubName: Full=Erythropoietin receptor; Flags: Fragment;							extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			ovary(1)	1					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14277881	14277881	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14277881delA	uc010xnn.1	-						LPHN1_uc010xno.1_Intron|uc002myf.2_Intron	NM_001008701	NP_001008701			latrophilin 1 isoform 1 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14732269	14732269	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14732269delA	uc002mzi.3	-						EMR3_uc010dzp.2_Intron|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960			egf-like module-containing mucin-like receptor						neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6																		---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15575174	15575174	+	5'UTR	DEL	G	-	-	rs76267899		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15575174delG	uc002nbe.2	-	2						NM_022904	NP_075055			RAS protein activator like 3						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity				0																		---	---	---	---
TPM4	7171	broad.mit.edu	37	19	16212005	16212005	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16212005delT	uc002ndj.2	+						TPM4_uc002ndi.2_Intron|TPM4_uc002ndl.1_RNA	NM_003290	NP_003281			tropomyosin 4 isoform 2						cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	soft_tissue(10)|haematopoietic_and_lymphoid_tissue(2)|breast(1)	13								T	ALK	ALCL								---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16617404	16617404	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16617404delA	uc002neh.1	+						MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Intron|C19orf44_uc002neg.2_Intron|C19orf44_uc010eai.1_Intron	NM_032207	NP_115583			hypothetical protein LOC84167												0																		---	---	---	---
USHBP1	83878	broad.mit.edu	37	19	17369974	17369974	+	Intron	DEL	A	-	-	rs80351288		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17369974delA	uc002nfs.1	-						USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Intron|USHBP1_uc010xpk.1_Intron|USHBP1_uc010eam.1_Intron	NM_031941	NP_114147			Usher syndrome 1C binding protein 1								PDZ domain binding			ovary(1)	1																		---	---	---	---
FKBP8	23770	broad.mit.edu	37	19	18642956	18642956	+	3'UTR	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18642956delG	uc002njk.1	-	9					FKBP8_uc002nji.1_3'UTR|FKBP8_uc010xqi.1_3'UTR|FKBP8_uc002njj.1_3'UTR|FKBP8_uc002njl.1_3'UTR|FKBP8_uc002njm.1_3'UTR|FKBP8_uc010ebr.1_3'UTR|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313			FK506-binding protein 8						apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1																		---	---	---	---
TMEM59L	25789	broad.mit.edu	37	19	18731118	18731118	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18731118delA	uc002njy.3	+							NM_012109	NP_036241			brain-specific membrane-anchored protein							Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4																		---	---	---	---
ZNF14	7561	broad.mit.edu	37	19	19843658	19843658	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19843658delC	uc002nnk.1	-							NM_021030	NP_066358			zinc finger protein 14						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)																---	---	---	---
Unknown	0	broad.mit.edu	37	19	20361055	20361055	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20361055delA								ZNF486 (52071 upstream) : LOC284441 (7402 downstream)																																			---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22191570	22191571	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22191570_22191571insA	uc002nqp.2	-						ZNF208_uc002nqo.1_Intron|ZNF208_uc002nqq.2_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)																---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33137323	33137323	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33137323delT	uc002ntn.1	-						ANKRD27_uc002nto.1_Intron	NM_032139	NP_115515			ankyrin repeat domain 27 (VPS9 domain)						early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)																	---	---	---	---
Unknown	0	broad.mit.edu	37	19	35128512	35128512	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35128512delA	uc002nvo.1	-											Homo sapiens cDNA FLJ36176 fis, clone TESTI2026491.																														---	---	---	---
ZNF382	84911	broad.mit.edu	37	19	37118583	37118584	+	3'UTR	INS	-	AC	AC	rs143882643	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37118583_37118584insAC	uc002oek.2	+	5					ZNF382_uc010efa.2_3'UTR|ZNF382_uc010efb.2_3'UTR|ZNF382_uc002oel.2_3'UTR	NM_032825	NP_116214			zinc finger protein 382						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)															---	---	---	---
ZNF829	374899	broad.mit.edu	37	19	37398706	37398708	+	Intron	DEL	AAA	-	-	rs113535347		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37398706_37398708delAAA	uc002ofa.1	-						ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_3'UTR	NM_001037232	NP_001032309			zinc finger protein 829						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948584	38948585	+	Intron	DEL	TC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38948584_38948585delTC	uc002oit.2	+						RYR1_uc002oiu.2_Intron	NM_000540	NP_000531			skeletal muscle ryanodine receptor isoform 1						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
CLC	1178	broad.mit.edu	37	19	40226833	40226833	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40226833delA	uc002omh.2	-							NM_001828	NP_001819			Charcot-Leyden crystal protein						lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding				0	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)														---	---	---	---
CD79A	973	broad.mit.edu	37	19	42383610	42383610	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42383610delC	uc002orv.2	+	3	570	c.385delC	c.(385-387)CCCfs	p.P129fs	CD79A_uc002oru.2_Frame_Shift_Del_p.P91fs	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	129	Extracellular (Potential).				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								---	---	---	---
CEACAM1	634	broad.mit.edu	37	19	43016797	43016797	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43016797delT	uc002otv.2	-						uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Intron|CEACAM1_uc010eij.2_Intron|CEACAM1_uc002otx.2_Intron|CEACAM1_uc002oty.2_Intron|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Intron	NM_001712	NP_001703			carcinoembryonic antigen-related cell adhesion						angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)													---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43556931	43556931	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43556931delA	uc002ovi.2	-						PSG10_uc002ouv.1_Intron|PSG6_uc010xwk.1_Intron					SubName: Full=Putative uncharacterized protein PSG6;						female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)																---	---	---	---
IRGQ	126298	broad.mit.edu	37	19	44098825	44098825	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44098825delA	uc002oww.2	-						IRGQ_uc010eiv.2_Intron|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	NM_001007561	NP_001007562			immunity-related GTPase family, Q								protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)																---	---	---	---
CEACAM16	388551	broad.mit.edu	37	19	45202702	45202702	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45202702delT	uc010xxd.1	+						CEACAM16_uc002ozq.2_Frame_Shift_Del_p.T51fs	NM_001039213	NP_001034302			carcinoembryonic antigen-related cell adhesion											ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)																---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45316993	45316993	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45316993delA	uc002ozu.2	+						BCAM_uc002ozt.1_Intron	NM_005581	NP_005572			basal cell adhesion molecule isoform 1						cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)																---	---	---	---
APOC1P1	342	broad.mit.edu	37	19	45431268	45431268	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45431268delA	uc010eju.2	+											Homo sapiens clone DKFZp781C1677 mRNA sequence.												0																		---	---	---	---
CKM	1158	broad.mit.edu	37	19	45822685	45822685	+	Intron	DEL	C	-	-	rs68016783		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45822685delC	uc002pbd.2	-							NM_001824	NP_001815			muscle creatine kinase						creatine metabolic process	cytosol	ATP binding|creatine kinase activity			skin(1)	1		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)													---	---	---	---
CGB	1082	broad.mit.edu	37	19	49536865	49536866	+	Intron	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49536865_49536866delAA	uc010yad.1	-						SNAR-G2_uc010yae.1_5'Flank	NM_033183	NP_149439			chorionic gonadotropin, beta polypeptide 8						apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)													---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50215900	50215900	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50215900delA	uc002ppj.2	+						CPT1C_uc002ppi.2_Intron|CPT1C_uc002ppk.2_Intron|CPT1C_uc010eng.2_Intron|CPT1C_uc010enh.2_Intron|CPT1C_uc010eni.1_Intron	NM_152359	NP_689572			carnitine palmitoyltransferase 1C isoform 2						fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)														---	---	---	---
NR1H2	7376	broad.mit.edu	37	19	50880753	50880753	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50880753delA	uc010enw.2	+						NR1H2_uc002prv.3_Intron|NR1H2_uc002prz.3_Intron|NR1H2_uc002psa.3_Intron	NM_007121	NP_009052			nuclear receptor subfamily 1, group H, member 2						negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)														---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877539	52877539	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52877539delT	uc002pzc.2	+						ZNF880_uc002pzb.3_Intron	NM_001145434	NP_001138906			zinc finger protein LOC400713						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	19	53365804	53365804	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53365804delT								ZNF468 (4902 upstream) : ZNF320 (1315 downstream)																																			---	---	---	---
ZNF845	91664	broad.mit.edu	37	19	53848945	53848945	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53848945delT	uc010ydv.1	+						ZNF845_uc010ydw.1_Intron	NM_138374	NP_612383			zinc finger protein 845						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
MIR520E	574461	broad.mit.edu	37	19	54177772	54177772	+	5'Flank	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54177772delT	hsa-mir-520e|MI0003143	+																							0																		---	---	---	---
KIR2DL3	3804	broad.mit.edu	37	19	55263199	55263199	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55263199delA	uc002qgv.2	+	6	832	c.814delA	c.(814-816)AAAfs	p.K272fs	KIR2DL3_uc002qgx.2_Frame_Shift_Del_p.K272fs|KIR2DL3_uc002qgy.2_Frame_Shift_Del_p.K174fs|KIR2DL3_uc010erw.1_Frame_Shift_Del_p.K272fs|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	272	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3619684	3619684	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3619684delT	uc002wim.2	+							NM_139321	NP_647537			attractin isoform 1						inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2																		---	---	---	---
C20orf30	29058	broad.mit.edu	37	20	5086697	5086697	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5086697delA	uc002wll.2	-						C20orf30_uc010gbi.2_Intron|C20orf30_uc002wlk.2_Intron|C20orf30_uc002wlm.2_Intron|C20orf30_uc002wln.2_Intron|C20orf30_uc002wlo.2_Intron	NM_001009924	NP_001009924			hypothetical protein LOC29058 isoform 2							integral to membrane					0																		---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8782688	8782688	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:8782688delT	uc002wnb.2	+						PLCB1_uc002wna.2_Intron	NM_015192	NP_056007			phosphoinositide-specific phospholipase C beta 1						activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12																		---	---	---	---
C20orf7	79133	broad.mit.edu	37	20	13769424	13769424	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13769424delT	uc002wom.2	+						C20orf7_uc002wol.1_Intron|C20orf7_uc002won.2_Intron|C20orf7_uc002woo.2_Intron	NM_024120	NP_077025			hypothetical protein LOC79133 isoform 1						mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)																---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18535858	18535858	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18535858delT	uc002wqz.1	+						SEC23B_uc002wra.1_Intron|SEC23B_uc002wrb.1_Intron|SEC23B_uc010zsb.1_Intron|SEC23B_uc002wrc.1_Intron	NM_006363	NP_006354			Sec23 homolog B						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF341	84905	broad.mit.edu	37	20	32376885	32376886	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32376885_32376886delTT	uc002wzy.2	+						ZNF341_uc002wzx.2_Intron|ZNF341_uc010geq.2_Intron|ZNF341_uc010ger.2_Intron|ZNF341_uc002wzz.2_Intron	NM_032819	NP_116208			zinc finger protein 341						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
EIF2S2	8894	broad.mit.edu	37	20	32678445	32678445	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32678445delT	uc002xaf.2	-						EIF2S2_uc002xag.2_Intron|EIF2S2_uc010ges.2_Intron	NM_003908	NP_003899			eukaryotic translation initiation factor 2 beta							cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			large_intestine(1)	1																		---	---	---	---
NDRG3	57446	broad.mit.edu	37	20	35315708	35315708	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35315708delC	uc002xfw.2	-						NDRG3_uc002xfx.2_Intron|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron	NM_032013	NP_114402			N-myc downstream regulated gene 3 isoform a						cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)																---	---	---	---
NDRG3	57446	broad.mit.edu	37	20	35349931	35349931	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35349931delA	uc002xfw.2	-						NDRG3_uc002xfx.2_Intron|NDRG3_uc010zvq.1_Intron|NDRG3_uc010zvr.1_Intron	NM_032013	NP_114402			N-myc downstream regulated gene 3 isoform a						cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)																---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35684440	35684441	+	Intron	DEL	AA	-	-	rs78217757		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35684440_35684441delAA	uc002xgi.2	-						RBL1_uc010zvt.1_Intron|RBL1_uc002xgj.1_Intron	NM_002895	NP_002886			retinoblastoma-like protein 1 isoform a						cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)																---	---	---	---
TP53TG5	27296	broad.mit.edu	37	20	44006414	44006414	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44006414delA	uc002xny.2	-						SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292			TP53-target gene 5 protein						intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1																		---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46281062	46281062	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46281062delA	uc002xtk.2	+						NCOA3_uc002xtl.2_Intron|NCOA3_uc002xtm.2_Intron|NCOA3_uc002xtn.2_Intron|NCOA3_uc010zyc.1_Intron	NM_181659	NP_858045			nuclear receptor coactivator 3 isoform a						androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5																		---	---	---	---
NPEPL1	79716	broad.mit.edu	37	20	57290340	57290340	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57290340delG	uc010zzs.1	+	12	1625	c.1530delG	c.(1528-1530)GAGfs	p.E510fs	NPEPL1_uc010zzr.1_Frame_Shift_Del_p.E462fs|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Frame_Shift_Del_p.E482fs|NPEPL1_uc002xzp.2_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	510					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)															---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58494812	58494812	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58494812delT	uc002yaz.2	-						SYCP2_uc010gju.1_5'Flank	NM_014258	NP_055073			synaptonemal complex protein 2						cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)															---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62073580	62073580	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62073580delC	uc002yey.1	-						KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron|KCNQ2_uc011aax.1_Intron|KCNQ2_uc002yfc.1_Intron	NM_172107	NP_742105			potassium voltage-gated channel KQT-like protein						axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)													---	---	---	---
C21orf99	149992	broad.mit.edu	37	21	14468722	14468722	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:14468722delT	uc002yja.3	+							NR_026916				Homo sapiens C21orf99 protein (C21orf99) mRNA, complete cds.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	21	21112410	21112412	+	IGR	DEL	AGA	-	-	rs1829338	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:21112410_21112412delAGA								None (None upstream) : None (None downstream)																																			---	---	---	---
IL10RB	3588	broad.mit.edu	37	21	34660708	34660711	+	Intron	DEL	ACAG	-	-	rs67118950		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34660708_34660711delACAG	uc002yrk.1	+						IL10RB_uc002yrl.1_Intron	NM_000628	NP_000619			interleukin 10 receptor, beta precursor						immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity				0																		---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45499777	45499779	+	Intron	DEL	AAA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45499777_45499779delAAA	uc002zea.2	+						TRAPPC10_uc010gpo.2_Intron|TRAPPC10_uc011afa.1_5'Flank	NM_003274	NP_003265			trafficking protein particle complex 10						vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47862398	47862398	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47862398delT	uc002zji.3	+						PCNT_uc002zjj.2_Intron	NM_006031	NP_006022			pericentrin						cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47976820	47976820	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47976820delT	uc002zjo.2	+						DIP2A_uc011afz.1_Intron|DIP2A_uc002zjr.2_Intron	NM_015151	NP_055966			disco-interacting protein 2A isoform a						multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)														---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17075872	17075872	+	5'Flank	DEL	A	-	-	rs148690764		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17075872delA	uc002zlp.1	-							NM_014406	NP_055221			T-complex protein 1						cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)																---	---	---	---
DGCR8	54487	broad.mit.edu	37	22	20080575	20080575	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20080575delT	uc002zri.2	+						DGCR8_uc010grz.2_Intron|DGCR8_uc002zrj.2_Intron	NM_022720	NP_073557			DiGeorge syndrome critical region gene 8						primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)																	---	---	---	---
RNF185	91445	broad.mit.edu	37	22	31593111	31593111	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31593111delA	uc003akb.2	+						RNF185_uc010gwh.2_Intron|RNF185_uc011alm.1_Intron|RNF185_uc003akc.2_Intron|RNF185_uc003ake.2_Intron	NM_152267	NP_689480			ring finger protein 185 isoform 1							integral to membrane	zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	22	34492090	34492090	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:34492090delT								LARGE (173506 upstream) : ISX (970039 downstream)																																			---	---	---	---
EIF3L	51386	broad.mit.edu	37	22	38270142	38270142	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38270142delA	uc003auf.2	+						EIF3L_uc003aue.1_Intron|EIF3L_uc011ann.1_Intron|EIF3L_uc003aug.2_Intron|EIF3L_uc003auh.2_Intron	NM_016091	NP_057175			eukaryotic translation initiation factor 3							eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1																		---	---	---	---
PICK1	9463	broad.mit.edu	37	22	38460768	38460768	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38460768delA	uc003auq.2	+						PICK1_uc003aur.2_Intron|PICK1_uc003aus.2_Intron|PICK1_uc003aut.2_Intron	NM_012407	NP_036539			protein interacting with C kinase 1						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)																	---	---	---	---
DMC1	11144	broad.mit.edu	37	22	38917965	38917965	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38917965delT	uc003avz.1	-						DMC1_uc011anv.1_Intron	NM_007068	NP_008999			DMC1 dosage suppressor of mck1 homolog						reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)												Homologous_recombination					---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40521717	40521717	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40521717delA	uc003aym.2	+							NM_001024843	NP_001020014			trinucleotide repeat containing 6B isoform 3						gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
POLR3H	171568	broad.mit.edu	37	22	41925756	41925756	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41925756delT	uc003baf.2	-						POLR3H_uc003bae.2_Intron|POLR3H_uc003bag.2_Intron|POLR3H_uc003bai.2_Intron	NM_138338	NP_612211			polymerase (RNA) III (DNA directed) polypeptide						innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			skin(1)	1																		---	---	---	---
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42898666delC	uc011apm.1	+						SERHL_uc011apl.1_Intron					RecName: Full=Serine hydrolase-like protein;          EC=3.1.-.-;												0																		---	---	---	---
CYB5R3	1727	broad.mit.edu	37	22	43036329	43036329	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43036329delC	uc003bcz.2	-						CYB5R3_uc011aps.1_Intron|CYB5R3_uc003bcy.2_Intron|CYB5R3_uc003bcx.2_Intron|ATP5L2_uc003bda.1_RNA	NM_000398	NP_000389			cytochrome b5 reductase 3 isoform m						blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)													---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43227348	43227349	+	Intron	DEL	TT	-	-	rs71754335		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43227348_43227349delTT	uc003bdd.2	-						ARFGAP3_uc010gzf.2_Intron|ARFGAP3_uc011apu.1_Intron	NM_014570	NP_055385			ADP-ribosylation factor GTPase activating						intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1																		---	---	---	---
SAPS2	9701	broad.mit.edu	37	22	50857138	50857140	+	Intron	DEL	AAG	-	-	rs7293044	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50857138_50857140delAAG	uc003blb.1	+						SAPS2_uc003bky.1_Intron|SAPS2_uc003bkz.1_Intron|SAPS2_uc003blc.2_Intron|SAPS2_uc003bla.1_Intron	NM_014678	NP_055493			SAPS domain family, member 2							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)														---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5947478	5947478	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5947478delA	uc010ndh.2	-						NLGN4X_uc004crp.2_Intron|NLGN4X_uc004crq.2_Intron|NLGN4X_uc010ndi.2_Intron|NLGN4X_uc004crr.2_Intron|NLGN4X_uc010ndj.2_Intron	NM_181332	NP_851849			X-linked neuroligin 4 precursor						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																		---	---	---	---
STS	412	broad.mit.edu	37	X	7193971	7193973	+	Intron	DEL	TTT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:7193971_7193973delTTT	uc004cry.3	+							NM_000351	NP_000342			steryl-sulfatase precursor						female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)									Ichthyosis				---	---	---	---
GEMIN8	54960	broad.mit.edu	37	X	14039512	14039512	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14039512delA	uc004cwb.2	-						GEMIN8_uc004cwc.2_Intron|GEMIN8_uc004cwd.2_Intron	NM_017856	NP_060326			gem (nuclear organelle) associated protein 8						spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0																		---	---	---	---
GLRA2	2742	broad.mit.edu	37	X	14592332	14592332	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14592332delT	uc010nep.2	+						GLRA2_uc010neq.2_Intron|GLRA2_uc004cwe.3_Intron|GLRA2_uc011mio.1_Intron|GLRA2_uc011mip.1_Intron	NM_001118885	NP_001112357			glycine receptor, alpha 2 isoform A						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)													---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14868472	14868472	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14868472delA	uc004cwg.1	-						FANCB_uc004cwh.1_Intron	NM_001018113	NP_001018123			Fanconi anemia complementation group B						DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)												Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14868854	14868856	+	Intron	DEL	AAA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14868854_14868856delAAA	uc004cwg.1	-						FANCB_uc004cwh.1_Intron	NM_001018113	NP_001018123			Fanconi anemia complementation group B						DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)												Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
RBBP7	5931	broad.mit.edu	37	X	16871713	16871714	+	Intron	DEL	AA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16871713_16871714delAA	uc004cxt.2	-						RBBP7_uc004cxs.1_Intron|RBBP7_uc004cxu.2_Intron|RBBP7_uc010nez.2_3'UTR	NM_002893	NP_002884			retinoblastoma binding protein 7						cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)																	---	---	---	---
REPS2	9185	broad.mit.edu	37	X	17086448	17086449	+	Intron	DEL	AT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17086448_17086449delAT	uc004cxv.1	+						REPS2_uc004cxw.1_Intron|REPS2_uc011miw.1_Intron	NM_004726	NP_004717			RALBP1 associated Eps domain containing 2						epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19433196	19433197	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19433196_19433197insA	uc004czk.1	-						MAP3K15_uc004czj.1_Intron	NM_001001671	NP_001001671			mitogen-activated protein kinase kinase kinase								ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)																	---	---	---	---
MAP7D2	256714	broad.mit.edu	37	X	20033970	20033970	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:20033970delA	uc004czr.1	-						MAP7D2_uc004czq.1_Intron|MAP7D2_uc011mji.1_Intron|MAP7D2_uc010nfo.1_Intron|MAP7D2_uc011mjj.1_Intron	NM_152780	NP_689993			MAP7 domain containing 2											ovary(2)|breast(1)	3																		---	---	---	---
EIF1AX	1964	broad.mit.edu	37	X	20150389	20150390	+	Intron	DEL	AG	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:20150389_20150390delAG	uc004czt.2	-							NM_001412	NP_001403			X-linked eukaryotic translation initiation							cytosol	translation initiation factor activity			ovary(1)	1																		---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21666889	21666890	+	Intron	DEL	TC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21666889_21666890delTC	uc004czx.1	+						CNKSR2_uc011mjo.1_Intron	NM_014927	NP_055742			connector enhancer of kinase suppressor of Ras						regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2																		---	---	---	---
SMPX	23676	broad.mit.edu	37	X	21772423	21772423	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21772423delA	uc004daa.2	-							NM_014332	NP_055147			small muscle protein, X-linked						striated muscle contraction						0																		---	---	---	---
SAT1	6303	broad.mit.edu	37	X	23802147	23802147	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23802147delA	uc004dau.2	+						SAT1_uc010nfv.2_Frame_Shift_Del_p.K117fs|SAT1_uc004dav.2_Intron	NM_002970	NP_002961			diamine N-acetyltransferase 1						angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding				0					Spermine(DB00127)													---	---	---	---
FAM48B2	170067	broad.mit.edu	37	X	24331747	24331747	+	5'Flank	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24331747delC	uc011mjw.1	-							NM_001136233	NP_001129705			family with sequence similarity 48, member B2												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	25212958	25212958	+	IGR	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:25212958delG								ARX (178893 upstream) : MAGEB18 (943505 downstream)																																			---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29972559	29972559	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:29972559delA	uc004dby.2	+							NM_014271	NP_055086			interleukin 1 receptor accessory protein-like 1						innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	31950371	31950371	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31950371delT	uc004dda.1	-						DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Intron|DMD_uc004dcu.1_Intron|DMD_uc004dcv.1_Intron|DMD_uc004dcw.2_Intron|DMD_uc004dcx.2_Intron|DMD_uc004dcz.2_Intron|DMD_uc004dcy.1_Intron|DMD_uc004ddb.1_Intron|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_Intron	NM_004006	NP_003997			dystrophin Dp427m isoform						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32834517	32834517	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32834517delA	uc004dda.1	-						DMD_uc004dcz.2_Intron|DMD_uc004dcy.1_Intron|DMD_uc004ddb.1_Intron|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Intron|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_003997			dystrophin Dp427m isoform						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
LANCL3	347404	broad.mit.edu	37	X	37431309	37431309	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37431309delG	uc011mkd.1	+	1	488	c.186delG	c.(184-186)CAGfs	p.Q62fs	LANCL3_uc004ddp.1_Frame_Shift_Del_p.Q62fs	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	62							catalytic activity				0																		---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38144668	38144668	+	3'UTR	DEL	T	-	-	rs66997072		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38144668delT	uc004ded.1	-	15					RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025			retinitis pigmentosa GTPase regulator isoform C						intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	40767693	40767693	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40767693delA								LOC100132831 (75244 upstream) : USP9X (177195 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	X	40936858	40936858	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40936858delA								LOC100132831 (244409 upstream) : USP9X (8030 downstream)																																			---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41031402	41031402	+	Intron	DEL	A	-	-	rs143523515		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41031402delA	uc004dfb.2	+						USP9X_uc004dfc.2_Intron	NM_001039590	NP_001034679			ubiquitin specific protease 9, X-linked isoform						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																		---	---	---	---
MAOB	4129	broad.mit.edu	37	X	43638035	43638035	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:43638035delA	uc004dfz.3	-						MAOB_uc011mkx.1_Intron|MAOB_uc011mky.1_Intron	NM_000898	NP_000889			monoamine oxidase B						xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)													---	---	---	---
UBA1	7317	broad.mit.edu	37	X	47059187	47059187	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47059187delT	uc004dhj.3	+						UBA1_uc004dhk.3_Intron	NM_153280	NP_695012			ubiquitin-activating enzyme E1						cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1																		---	---	---	---
ZNF157	7712	broad.mit.edu	37	X	47230179	47230179	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47230179delT	uc004dhr.1	+							NM_003446	NP_003437			zinc finger protein 157						negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ELK1	2002	broad.mit.edu	37	X	47500596	47500596	+	Intron	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47500596delG	uc004dik.3	-						ELK1_uc010nhv.2_Intron|ELK1_uc010nhw.2_5'UTR|ELK1_uc004dil.3_Intron	NM_001114123	NP_001107595			ELK1 protein						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2																		---	---	---	---
SUV39H1	6839	broad.mit.edu	37	X	48565054	48565055	+	Intron	DEL	TG	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48565054_48565055delTG	uc004dkn.2	+						SUV39H1_uc011mmf.1_Intron|SUV39H1_uc011mmg.1_Intron	NM_003173	NP_003164			suppressor of variegation 3-9 homolog 1						cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0																		---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49955569	49955569	+	3'UTR	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49955569delG	uc004dow.1	-	6					AKAP4_uc004dov.1_3'UTR|AKAP4_uc010njp.1_3'UTR|AKAP4_uc004dou.1_3'UTR	NM_003886	NP_003877			A-kinase anchor protein 4 isoform 1						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)																	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53246393	53246393	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53246393delG	uc004drz.2	-	5	1122	c.589delC	c.(589-591)CTAfs	p.L197fs	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Frame_Shift_Del_p.L130fs|KDM5C_uc004dsa.2_Frame_Shift_Del_p.L196fs	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	197					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18								N|F|S		clear cell renal carcinoma								---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53651494	53651495	+	Intron	DEL	AG	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53651494_53651495delAG	uc004dsp.2	-							NM_031407	NP_113584			HECT, UBA and WWE domain containing 1						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																		---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54228568	54228568	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54228568delT	uc004dtd.1	-	22	5197	c.4758delA	c.(4756-4758)AAAfs	p.K1586fs	WNK3_uc004dtc.1_Frame_Shift_Del_p.K1643fs	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1586					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11																		---	---	---	---
ALAS2	212	broad.mit.edu	37	X	55040196	55040196	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:55040196delT	uc004dua.3	-						ALAS2_uc004dub.3_Intron|ALAS2_uc004dud.3_Intron	NM_000032	NP_000023			5-aminolevulinate synthase 2 isoform a						cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)													---	---	---	---
Unknown	0	broad.mit.edu	37	X	55307953	55307953	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:55307953delT								PAGE3 (16674 upstream) : MAGEH1 (170585 downstream)																																			---	---	---	---
UBQLN2	29978	broad.mit.edu	37	X	56591874	56591874	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:56591874delC	uc004dus.2	+	1	1803	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	11.|12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2																		---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57368049	57368050	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57368049_57368050delTT	uc004dvc.2	+							NM_174912	NP_777572			fatty acid amide hydrolase 2							integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3															HNSCC(52;0.14)			---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57458220	57458221	+	Intron	INS	-	TTTT	TTTT	rs6521622		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57458220_57458221insTTTT	uc004dvc.2	+							NM_174912	NP_777572			fatty acid amide hydrolase 2							integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3															HNSCC(52;0.14)			---	---	---	---
ZC4H2	55906	broad.mit.edu	37	X	64139884	64139885	+	Intron	DEL	GT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64139884_64139885delGT	uc004dvu.2	-						ZC4H2_uc004dvv.2_Intron|ZC4H2_uc011mov.1_Intron|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	NM_018684	NP_061154			zinc finger, C4H2 domain containing								metal ion binding|protein binding			ovary(1)	1																		---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65426921	65426922	+	Intron	DEL	TT	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:65426921_65426922delTT	uc011moz.1	+						HEPH_uc004dwn.2_Intron|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Intron|HEPH_uc010nks.2_Intron	NM_138737	NP_620074			hephaestin isoform a						cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9																		---	---	---	---
AR	367	broad.mit.edu	37	X	66943842	66943842	+	3'UTR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:66943842delT	uc004dwu.1	+	8					AR_uc004dwv.1_3'UTR	NM_000044	NP_000035			androgen receptor isoform 1						cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)									Androgen_Insensitivity_Syndrome				---	---	---	---
TEX11	56159	broad.mit.edu	37	X	69960654	69960654	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69960654delA	uc004dyl.2	-						TEX11_uc004dym.2_Intron	NM_001003811	NP_001003811			testis expressed sequence 11 isoform 1								protein binding			ovary(3)|breast(1)|skin(1)	5	Renal(35;0.156)																	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70626427	70626427	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70626427delT	uc004dzu.3	+						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Intron|TAF1_uc004dzv.3_Intron|TAF1_uc010nld.1_5'Flank|TAF1_uc010nle.1_5'Flank|TAF1_uc010nlf.1_5'Flank|TAF1_uc004dzx.2_5'Flank|TAF1_uc004dzy.2_5'Flank	NM_138923	NP_620278			TBP-associated factor 1 isoform 2						G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)																---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70642757	70642757	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70642757delT	uc004dzu.3	+						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Intron|TAF1_uc004dzv.3_Intron|TAF1_uc010nld.1_Intron|TAF1_uc010nle.1_Intron|TAF1_uc010nlf.1_Intron|TAF1_uc004dzx.2_Intron|TAF1_uc004dzy.2_Intron|TAF1_uc004dzw.1_5'Flank	NM_138923	NP_620278			TBP-associated factor 1 isoform 2						G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)																---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70812449	70812449	+	Intron	DEL	T	-	-	rs71886942		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70812449delT	uc004eae.2	+						BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189			ACRC protein							nucleus				ovary(3)	3	Renal(35;0.156)																	---	---	---	---
Unknown	0	broad.mit.edu	37	X	71492424	71492424	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71492424delA								PIN4 (7612 upstream) : RPS4X (30 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	X	72744763	72744763	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:72744763delT								CDX4 (70343 upstream) : CHIC1 (38221 downstream)																																			---	---	---	---
XIST	7503	broad.mit.edu	37	X	73053273	73053273	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73053273delA	uc004ebm.1	-							NR_001564				Homo sapiens cDNA: FLJ21545 fis, clone COL06195.												0																		---	---	---	---
NCRNA00182	100302692	broad.mit.edu	37	X	73507434	73507434	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73507434delT	uc010nlq.1	-						NCRNA00182_uc004ebr.1_Intron|MIR545_hsa-mir-545|MI0003516_5'Flank|MIR374A_hsa-mir-374a|MI0000782_5'Flank|uc011mqm.1_5'Flank					Homo sapiens cDNA FLJ33139 fis, clone UTERU1000109.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	74387595	74387595	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74387595delT								ABCB7 (11463 upstream) : UPRT (106366 downstream)																																			---	---	---	---
ATRX	546	broad.mit.edu	37	X	76845413	76845413	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76845413delA	uc004ecp.3	-						ATRX_uc004ecq.3_Intron|ATRX_uc004eco.3_Intron	NM_000489	NP_000480			transcriptional regulator ATRX isoform 1						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						---	---	---	---
ATRX	546	broad.mit.edu	37	X	76874118	76874118	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76874118delT	uc004ecp.3	-						ATRX_uc004ecq.3_Intron|ATRX_uc004eco.3_Intron	NM_000489	NP_000480			transcriptional regulator ATRX isoform 1						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77264922	77264922	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77264922delT	uc004ecx.3	+						ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043			ATPase, Cu++ transporting, alpha polypeptide						ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	80047491	80047491	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:80047491delT	uc004edt.2	-						BRWD3_uc004edo.2_Intron|BRWD3_uc004edp.2_Intron|BRWD3_uc004edq.2_Intron|BRWD3_uc010nmj.1_Intron|BRWD3_uc004edr.2_Intron|BRWD3_uc004eds.2_Intron|BRWD3_uc004edu.2_Intron|BRWD3_uc004edv.2_Intron|BRWD3_uc004edw.2_Intron|BRWD3_uc004edx.2_Intron|BRWD3_uc004edy.2_Intron|BRWD3_uc004edz.2_Intron|BRWD3_uc004eea.2_Intron|BRWD3_uc004eeb.2_Intron	NM_153252	NP_694984			bromodomain and WD repeat domain containing 3											ovary(4)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	83141720	83141720	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83141720delT								CYLC1 (94 upstream) : RPS6KA6 (177264 downstream)																																			---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83371300	83371300	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83371300delA	uc004eej.1	-						RPS6KA6_uc011mqt.1_Intron|RPS6KA6_uc011mqu.1_Intron	NM_014496	NP_055311			ribosomal protein S6 kinase polypeptide 6						axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84524996	84524996	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84524996delT	uc004eeo.2	+						ZNF711_uc004eep.2_Intron|ZNF711_uc004eeq.2_Intron|ZNF711_uc011mqy.1_Intron	NM_021998	NP_068838			zinc finger protein 711						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---
POF1B	79983	broad.mit.edu	37	X	84570750	84570751	+	Intron	INS	-	A	A	rs75595710		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84570750_84570751insA	uc004eer.2	-						POF1B_uc004ees.2_Intron	NM_024921	NP_079197			premature ovarian failure, 1B								actin binding				0																		---	---	---	---
CHM	1121	broad.mit.edu	37	X	85149403	85149403	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:85149403delA	uc004eet.2	-						CHM_uc011mqz.1_Intron	NM_000390	NP_000381			choroideremia isoform a						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)																---	---	---	---
DIAPH2	1730	broad.mit.edu	37	X	96502621	96502621	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:96502621delA	uc004efu.3	+						DIAPH2_uc004eft.3_Intron	NM_006729	NP_006720			diaphanous 2 isoform 156						cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4																		---	---	---	---
CSTF2	1478	broad.mit.edu	37	X	100093175	100093175	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100093175delT	uc004egh.2	+						CSTF2_uc010nnd.2_Intron|CSTF2_uc004egi.2_Intron	NM_001325	NP_001316			cleavage stimulation factor subunit 2						mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1																		---	---	---	---
TEX13A	56157	broad.mit.edu	37	X	104463832	104463832	+	Frame_Shift_Del	DEL	C	-	-	rs1060551	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:104463832delC	uc004ema.2	-	5	1156	c.1044delG	c.(1042-1044)GGGfs	p.G348fs	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Frame_Shift_Del_p.G349fs	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	348						intracellular	zinc ion binding			ovary(2)	2																		---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106066802	106066802	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106066802delT	uc004emo.2	+						MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Intron|TBC1D8B_uc004emn.2_Intron	NM_017752	NP_060222			TBC1 domain family, member 8B (with GRAM domain)							intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106069300	106069300	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106069300delT	uc004emo.2	+	6	1033	c.868delT	c.(868-870)TTTfs	p.F290fs	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Frame_Shift_Del_p.F290fs|TBC1D8B_uc004emn.2_Frame_Shift_Del_p.F290fs	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	290	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977803	107977803	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107977803delC	uc004eoc.2	-	1	1805	c.1772delG	c.(1771-1773)GGCfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10																		---	---	---	---
TMEM164	84187	broad.mit.edu	37	X	109414417	109414418	+	Intron	DEL	AG	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109414417_109414418delAG	uc004eom.2	+						TMEM164_uc004eol.2_Intron|TMEM164_uc010npq.2_Intron	NM_032227	NP_115603			transmembrane protein 164 isoform b							integral to membrane				large_intestine(1)|lung(1)|skin(1)	3																		---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	109943788	109943788	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109943788delT	uc004eou.3	-						CHRDL1_uc004eov.2_Intron|CHRDL1_uc004eow.2_Intron|CHRDL1_uc010nps.2_Intron|CHRDL1_uc004eot.2_Intron|CHRDL1_uc011mss.1_Intron	NM_001143981	NP_001137453			chordin-like 1 isoform 1 precursor						BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	111933747	111933747	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111933747delA								LHFPL1 (10372 upstream) : AMOT (84359 downstream)																																			---	---	---	---
SLC6A14	11254	broad.mit.edu	37	X	115576302	115576302	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115576302delT	uc004eqi.2	+						SLC6A14_uc011mtm.1_Intron	NM_007231	NP_009162			solute carrier family 6 (amino acid						cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)|pancreas(1)	3					L-Proline(DB00172)													---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117527389	117527389	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117527389delA	uc004eqn.2	+						WDR44_uc004eqo.2_Intron|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Intron	NM_019045	NP_061918			WD repeat domain 44 protein							cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117733260	117733260	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117733260delA	uc004eqp.2	+						DOCK11_uc004eqq.2_Intron	NM_144658	NP_653259			dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---
UPF3B	65109	broad.mit.edu	37	X	118975216	118975217	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118975216_118975217delCA	uc004erz.1	-	7	706_707	c.629_630delTG	c.(628-630)ATGfs	p.M210fs	UPF3B_uc004esa.1_Frame_Shift_Del_p.M210fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	210	Sufficient for association with EJC core.|Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3																		---	---	---	---
NKAP	79576	broad.mit.edu	37	X	119070803	119070803	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119070803delA	uc004esh.2	-						NKAP_uc004esg.2_5'UTR	NM_024528	NP_078804			NFKB activating protein						negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			ovary(2)	2																		---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119671835	119671835	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119671835delT	uc004esw.2	-						CUL4B_uc010nqq.2_Intron|CUL4B_uc004esv.2_Intron	NM_003588	NP_003579			cullin 4B isoform 1						cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
C1GALT1C1	29071	broad.mit.edu	37	X	119761125	119761126	+	5'UTR	INS	-	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119761125_119761126insT	uc004esy.2	-	2					C1GALT1C1_uc004esz.2_Intron	NM_152692	NP_689905			C1GALT1-specific chaperone 1							integral to membrane					0																		---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128682522	128682522	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128682522delT	uc004euq.2	+						OCRL_uc004eur.2_Intron	NM_000276	NP_000267			phosphatidylinositol polyphosphate 5-phosphatase						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																		---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128710178	128710179	+	Intron	INS	-	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128710178_128710179insC	uc004euq.2	+						OCRL_uc004eur.2_Intron	NM_000276	NP_000267			phosphatidylinositol polyphosphate 5-phosphatase						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																		---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129046026	129046027	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129046026_129046027insA	uc004euz.2	+						UTP14A_uc011mup.1_Intron|UTP14A_uc011muq.1_Intron	NM_006649	NP_006640			UTP14, U3 small nucleolar ribonucleoprotein,						rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2																		---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129054164	129054164	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129054164delA	uc004euz.2	+						UTP14A_uc011mup.1_Intron|UTP14A_uc011muq.1_Intron|UTP14A_uc004eva.1_5'Flank	NM_006649	NP_006640			UTP14, U3 small nucleolar ribonucleoprotein,						rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129149743	129149744	+	Frame_Shift_Ins	INS	-	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129149743_129149744insC	uc004evb.1	+	4	3109_3110	c.2995_2996insC	c.(2995-2997)ACCfs	p.T999fs	BCORL1_uc010nrd.1_Frame_Shift_Ins_p.T901fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	999					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	-	-	rs137862942		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129190011delC	uc004evb.1	+	13	5150	c.5036delC	c.(5035-5037)TCCfs	p.S1679fs	BCORL1_uc004evc.1_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129790756	129790756	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129790756delT	uc004evw.2	-						ENOX2_uc004evx.2_Intron|ENOX2_uc004evy.2_Intron|ENOX2_uc004evv.2_Intron	NM_182314	NP_872114			ecto-NOX disulfide-thiol exchanger 2 isoform b						cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---
GPC3	2719	broad.mit.edu	37	X	132796035	132796035	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132796035delA	uc004exe.1	-						GPC3_uc004exd.1_Intron|GPC3_uc010nrn.1_Intron|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron	NM_004484	NP_004475			glypican 3 isoform 2 precursor							extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)							T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome				---	---	---	---
Unknown	0	broad.mit.edu	37	X	133407718	133407718	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133407718delA								CCDC160 (27912 upstream) : PHF6 (99624 downstream)																																			---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138840030	138840030	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138840030delA	uc004faz.2	-						ATP11C_uc004fax.2_Intron|ATP11C_uc004fay.2_Intron|ATP11C_uc004fba.2_Intron	NM_173694	NP_775965			ATPase, class VI, type 11C isoform a						ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138850654	138850654	+	Intron	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138850654delT	uc004faz.2	-						ATP11C_uc004fax.2_5'Flank|ATP11C_uc004fay.2_Intron|ATP11C_uc004fba.2_Intron	NM_173694	NP_775965			ATPase, class VI, type 11C isoform a						ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148794754	148794754	+	Intron	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148794754delC	uc004fdq.2	+						HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Intron	NM_005366	NP_005357			melanoma antigen family A, 11 isoform a							cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
MTM1	4534	broad.mit.edu	37	X	149783252	149783252	+	Intron	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149783252delA	uc004fef.3	+						MTM1_uc011mxx.1_Intron|MTM1_uc011mxy.1_Intron|MTM1_uc011mxz.1_Intron|MTM1_uc010nte.2_Intron	NM_000252	NP_000243			myotubularin						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)																	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150842425	150842425	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150842425delC	uc004fev.3	+	15	2274	c.1942delC	c.(1942-1944)CCCfs	p.P648fs		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	648						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
BCAP31	10134	broad.mit.edu	37	X	152986466	152986467	+	Intron	INS	-	CA	CA			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152986466_152986467insCA	uc011myz.1	-						BCAP31_uc011myy.1_5'Flank|BCAP31_uc004fid.2_Intron|BCAP31_uc011mza.1_Intron|BCAP31_uc004fie.2_Intron	NM_001139441	NP_001132913			B-cell receptor-associated protein 31 isoform b						cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
GDI1	2664	broad.mit.edu	37	X	153667085	153667086	+	Intron	DEL	TC	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153667085_153667086delTC	uc004fli.3	+						GDI1_uc011mzo.1_Intron	NM_001493	NP_001484			GDP dissociation inhibitor 1						protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	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)																	---	---	---	---
CLIC2	1193	broad.mit.edu	37	X	154522806	154522807	+	Intron	INS	-	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154522806_154522807insA	uc004fnf.2	-						CLIC2_uc010nvj.1_Intron	NM_001289	NP_001280			chloride intracellular channel 2						signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			large_intestine(1)|ovary(1)|skin(1)	3	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---
Unknown	0	broad.mit.edu	37	Y	22895788	22895788	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:22895788delT								EIF1AY (140749 upstream) : RPS4Y2 (22166 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	Y	23473270	23473270	+	IGR	DEL	T	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:23473270delT								RPS4Y2 (530354 upstream) : RBMY2EP (83764 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	Y	28769834	28769834	+	IGR	DEL	A	-	-			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:28769834delA								None (None upstream) : None (None downstream)																																			---	---	---	---
NOC2L	26155	broad.mit.edu	37	1	886561	886561	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:886561C>T	uc001abz.3	-	12	1448	c.1389G>A	c.(1387-1389)ACG>ACA	p.T463T	NOC2L_uc001aby.3_Silent_p.T260T|NOC2L_uc009vjq.2_Silent_p.T463T	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	463						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)														---	---	---	---
SDF4	51150	broad.mit.edu	37	1	1153955	1153955	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1153955G>A	uc001adh.3	-	6	1124	c.795C>T	c.(793-795)ACC>ACT	p.T265T	SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Silent_p.T265T|SDF4_uc009vjv.2_Silent_p.T143T|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	265	EF-hand 4.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)														---	---	---	---
TAS1R3	83756	broad.mit.edu	37	1	1267095	1267095	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1267095T>C	uc010nyk.1	+	2	269	c.269T>C	c.(268-270)CTG>CCG	p.L90P		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	90	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)													---	---	---	---
MORN1	79906	broad.mit.edu	37	1	2318864	2318864	+	Missense_Mutation	SNP	G	A	A	rs144594161	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2318864G>A	uc001ajb.1	-	4	373	c.352C>T	c.(352-354)CGG>TGG	p.R118W	MORN1_uc009vld.2_Missense_Mutation_p.R94W|MORN1_uc001ajd.1_Missense_Mutation_p.R118W|MORN1_uc010nyy.1_Silent_p.C60C	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	118	MORN 4.									ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)														---	---	---	---
PLCH2	9651	broad.mit.edu	37	1	2415898	2415898	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2415898G>A	uc001aji.1	+	5	931	c.657G>A	c.(655-657)ACG>ACA	p.T219T	PLCH2_uc010nyz.1_Silent_p.T7T|PLCH2_uc009vle.1_Silent_p.T7T|PLCH2_uc001ajj.1_Silent_p.T7T|PLCH2_uc001ajk.1_Silent_p.T7T	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	219	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)														---	---	---	---
PLCH2	9651	broad.mit.edu	37	1	2418824	2418824	+	Intron	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2418824T>G	uc001aji.1	+						PLCH2_uc010nyz.1_Intron|PLCH2_uc009vle.1_Intron|PLCH2_uc001ajj.1_Intron|PLCH2_uc001ajk.1_Intron	NM_014638	NP_055453			phospholipase C, eta 2						intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)														---	---	---	---
ACTRT2	140625	broad.mit.edu	37	1	2939367	2939367	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2939367C>A	uc001ajz.2	+	1	1322	c.1117C>A	c.(1117-1119)CAG>AAG	p.Q373K		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	373						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)														---	---	---	---
MEGF6	1953	broad.mit.edu	37	1	3410383	3410383	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3410383C>T	uc001akl.2	-	34	4566	c.4339G>A	c.(4339-4341)GGT>AGT	p.G1447S	MEGF6_uc001akk.2_Intron	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	1447						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)														---	---	---	---
MEGF6	1953	broad.mit.edu	37	1	3417655	3417655	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3417655C>T	uc001akl.2	-	20	2677	c.2450G>A	c.(2449-2451)TGC>TAC	p.C817Y	MEGF6_uc001akk.2_Missense_Mutation_p.C712Y	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	817						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)														---	---	---	---
MEGF6	1953	broad.mit.edu	37	1	3421847	3421847	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3421847C>T	uc001akl.2	-	17	2340	c.2113G>A	c.(2113-2115)GTG>ATG	p.V705M	MEGF6_uc001akk.2_Missense_Mutation_p.V600M	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	705						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)														---	---	---	---
PLEKHG5	57449	broad.mit.edu	37	1	6530390	6530390	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6530390T>C	uc001ano.1	-	17	1975	c.1874A>G	c.(1873-1875)GAC>GGC	p.D625G	PLEKHG5_uc001ann.1_Missense_Mutation_p.D606G|PLEKHG5_uc001anq.1_Missense_Mutation_p.D646G|PLEKHG5_uc001anp.1_Missense_Mutation_p.D646G|PLEKHG5_uc001anj.1_Missense_Mutation_p.D130G|PLEKHG5_uc009vma.1_Missense_Mutation_p.D409G|PLEKHG5_uc010nzr.1_Missense_Mutation_p.D638G|PLEKHG5_uc001ank.1_Missense_Mutation_p.D569G|PLEKHG5_uc009vmb.1_Missense_Mutation_p.D569G|PLEKHG5_uc001anl.1_Missense_Mutation_p.D569G|PLEKHG5_uc001anm.1_Missense_Mutation_p.D569G|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	625					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
SLC45A1	50651	broad.mit.edu	37	1	8390770	8390770	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8390770G>A	uc001apb.2	+	4	1217	c.1217G>A	c.(1216-1218)CGG>CAG	p.R406Q	SLC45A1_uc001apc.2_Missense_Mutation_p.R104Q	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	406					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8684392	8684392	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8684392A>G	uc001ape.2	-	4	1183	c.373T>C	c.(373-375)TGT>CGT	p.C125R	RERE_uc001apf.2_Missense_Mutation_p.C125R|RERE_uc001aph.1_Missense_Mutation_p.C125R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	125	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
C1orf200	644997	broad.mit.edu	37	1	9714277	9714277	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9714277G>A	uc001aqc.3	-	1	368	c.218C>T	c.(217-219)GCC>GTC	p.A73V	PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.3_Intron	NR_027045				RecName: Full=Putative uncharacterized protein C1orf200;												0	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
PIK3CD	5293	broad.mit.edu	37	1	9784903	9784903	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9784903G>A	uc001aqb.3	+	23	3114	c.2906G>A	c.(2905-2907)CGC>CAC	p.R969H	PIK3CD_uc010oaf.1_Missense_Mutation_p.R968H|PIK3CD_uc001aqe.3_Missense_Mutation_p.R993H	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	969	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)												OREG0013083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10386385	10386385	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10386385C>T	uc001aqx.3	+	27	3094	c.2892C>T	c.(2890-2892)TAC>TAT	p.Y964Y	KIF1B_uc001aqw.3_Silent_p.Y918Y|KIF1B_uc001aqy.2_Silent_p.Y938Y|KIF1B_uc001aqz.2_Silent_p.Y964Y|KIF1B_uc001ara.2_Silent_p.Y924Y|KIF1B_uc001arb.2_Silent_p.Y950Y	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	964					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
PGD	5226	broad.mit.edu	37	1	10477578	10477578	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10477578G>A	uc001arc.2	+						PGD_uc001ard.2_Intron|PGD_uc010oak.1_Intron|PGD_uc010oal.1_Intron	NM_002631	NP_002622			phosphogluconate dehydrogenase						pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)														---	---	---	---
SRM	6723	broad.mit.edu	37	1	11115064	11115064	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11115064G>A	uc001arz.1	-	7	934	c.843C>T	c.(841-843)TCC>TCT	p.S281S	SRM_uc001ary.1_Silent_p.S142S	NM_003132	NP_003123	P19623	SPEE_HUMAN	spermidine synthase	281					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)													---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11307985	11307985	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11307985T>C	uc001asd.2	-	7	1128	c.1007A>G	c.(1006-1008)TAC>TGC	p.Y336C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	336					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
UBIAD1	29914	broad.mit.edu	37	1	11345717	11345717	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11345717C>T	uc001asg.2	+	2	880	c.546C>T	c.(544-546)TAC>TAT	p.Y182Y		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	182					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)														---	---	---	---
CLCN6	1185	broad.mit.edu	37	1	11889314	11889314	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11889314G>C	uc001ate.3	+	13	1296	c.1183G>C	c.(1183-1185)GTG>CTG	p.V395L	CLCN6_uc009vnh.1_Missense_Mutation_p.G339A|CLCN6_uc010oat.1_Missense_Mutation_p.V111L|CLCN6_uc010oau.1_Missense_Mutation_p.V373L	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	395					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
AADACL4	343066	broad.mit.edu	37	1	12725975	12725975	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12725975C>T	uc001auf.2	+	4	453	c.453C>T	c.(451-453)TAC>TAT	p.Y151Y		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	151	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)														---	---	---	---
LOC649330	649330	broad.mit.edu	37	1	12907847	12907847	+	Missense_Mutation	SNP	C	T	T	rs150230498		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12907847C>T	uc009vno.2	-	1	391	c.296G>A	c.(295-297)CGA>CAA	p.R99Q	HNRNPCL1_uc010obf.1_Missense_Mutation_p.R99Q	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	99							nucleic acid binding|nucleotide binding				0																		---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14105507	14105507	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14105507G>A	uc001avi.2	+	8	2073	c.1217G>A	c.(1216-1218)CGG>CAG	p.R406Q	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.R406Q|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.R163Q|PRDM2_uc001avk.2_Missense_Mutation_p.R205Q|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	406	C2H2-type 2.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14107336	14107336	+	Missense_Mutation	SNP	G	A	A	rs138768059		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:14107336G>A	uc001avi.2	+	8	3902	c.3046G>A	c.(3046-3048)GCA>ACA	p.A1016T	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.A1016T|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.A815T|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1016	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)														---	---	---	---
TMEM82	388595	broad.mit.edu	37	1	16071011	16071011	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16071011G>A	uc001axc.2	+	4	831	c.693G>A	c.(691-693)TCG>TCA	p.S231S		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	231	Leu-rich.					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16377497	16377497	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16377497C>T	uc001axw.3	+	12	1261	c.1181C>T	c.(1180-1182)CCG>CTG	p.P394L	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.P394L|CLCNKB_uc001axy.3_Missense_Mutation_p.P225L	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	394					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(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)														---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17331318	17331318	+	Splice_Site	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17331318T>C	uc001baa.2	-	5	538	c.348_splice	c.e5-1	p.S116_splice	ATP13A2_uc001bab.2_Splice_Site_p.S116_splice|ATP13A2_uc001bac.2_Splice_Site_p.S116_splice	NM_022089	NP_071372			ATPase type 13A2 isoform 1						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)														---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18661444	18661444	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18661444G>A	uc001bau.1	+	4	747	c.364G>A	c.(364-366)GAC>AAC	p.D122N		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	122	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)														---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18691970	18691970	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18691970T>C	uc001bau.1	+	6	1177	c.794T>C	c.(793-795)ATA>ACA	p.I265T	IGSF21_uc001bav.1_Missense_Mutation_p.I86T	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	265						extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)														---	---	---	---
KIAA0090	23065	broad.mit.edu	37	1	19549974	19549974	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19549974G>A	uc001bbo.2	-	19	2335	c.2292C>T	c.(2290-2292)GGC>GGT	p.G764G	KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Silent_p.G763G|KIAA0090_uc001bbq.2_Silent_p.G763G|KIAA0090_uc001bbr.2_Silent_p.G742G	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	764	DUF1620.|Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)														---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21042044	21042044	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21042044G>A	uc001bdr.3	-	2	438	c.320C>T	c.(319-321)CCG>CTG	p.P107L	KIF17_uc001bds.3_Missense_Mutation_p.P107L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	107	Kinesin-motor.				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)														---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22150206	22150206	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22150206G>A	uc001bfj.2	-	96	12946	c.12906C>T	c.(12904-12906)GGC>GGT	p.G4302G	LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Silent_p.G319G|HSPG2_uc009vqd.2_Silent_p.G4303G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4302	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)													---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22214000	22214000	+	Missense_Mutation	SNP	C	T	T	rs148693072	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22214000C>T	uc001bfj.2	-	8	911	c.871G>A	c.(871-873)GCA>ACA	p.A291T	HSPG2_uc009vqd.2_Missense_Mutation_p.A291T|HSPG2_uc009vqe.1_Silent_p.P189P	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	291	LDL-receptor class A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)													---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22902954	22902954	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22902954C>T	uc001bfx.1	+	3	529	c.404C>T	c.(403-405)GCC>GTC	p.A135V	EPHA8_uc001bfw.2_Missense_Mutation_p.A135V	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	135	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A135T(1)		central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---
GRHL3	57822	broad.mit.edu	37	1	24664283	24664283	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24664283C>T	uc001biy.2	+						GRHL3_uc001bix.2_Intron|GRHL3_uc001biz.2_Intron	NM_021180	NP_067003			sister-of-mammalian grainyhead protein isoform						regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)														---	---	---	---
GRHL3	57822	broad.mit.edu	37	1	24680976	24680976	+	Nonstop_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24680976T>C	uc001biy.2	+	16	1868	c.1822T>C	c.(1822-1824)TAA>CAA	p.*608Q	GRHL3_uc001bix.2_Nonstop_Mutation_p.*603Q|GRHL3_uc001biz.2_Nonstop_Mutation_p.*510Q	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	608					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)														---	---	---	---
SYF2	25949	broad.mit.edu	37	1	25558928	25558928	+	Intron	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:25558928A>T	uc001bjt.1	-						SYF2_uc001bju.1_Intron|SYF2_uc010oeo.1_Intron|SYF2_uc001bjv.1_Intron	NM_015484	NP_056299			SYF2 homolog, RNA splicing factor isoform 1							catalytic step 2 spliceosome					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)														---	---	---	---
ZDHHC18	84243	broad.mit.edu	37	1	27177668	27177668	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27177668C>T	uc001bnb.2	+	6	977	c.882C>T	c.(880-882)GGC>GGT	p.G294G		NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	294	Helical; (Potential).					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)														---	---	---	---
SMPDL3B	27293	broad.mit.edu	37	1	28285220	28285220	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28285220C>T	uc001bpg.2	+	8	1430	c.1239C>T	c.(1237-1239)CAC>CAT	p.H413H	SMPDL3B_uc010ofq.1_Silent_p.H207H|SMPDL3B_uc010ofr.1_Silent_p.H365H|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	413					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)														---	---	---	---
MATN1	4146	broad.mit.edu	37	1	31187163	31187163	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31187163A>G	uc001brz.2	-	7	1406	c.1372T>C	c.(1372-1374)TGT>CGT	p.C458R	MATN1_uc001bsa.1_Missense_Mutation_p.C376R	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	458					protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
FABP3	2170	broad.mit.edu	37	1	31845777	31845777	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31845777C>T	uc001bss.1	-							NM_004102	NP_004093			fatty acid binding protein 3						negative regulation of cell proliferation					ovary(1)	1		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)														---	---	---	---
BSDC1	55108	broad.mit.edu	37	1	32834083	32834083	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32834083G>A	uc001bvh.3	-	10	1272	c.1225C>T	c.(1225-1227)CAG>TAG	p.Q409*	BSDC1_uc010ohg.1_Nonsense_Mutation_p.Q426*|BSDC1_uc010ohh.1_Nonsense_Mutation_p.Q353*|BSDC1_uc010ohi.1_Nonsense_Mutation_p.Q314*|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Nonsense_Mutation_p.Q305*|BSDC1_uc001bvi.2_Nonsense_Mutation_p.Q426*	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN	BSD domain containing 1 isoform b	409							protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---
S100PBP	64766	broad.mit.edu	37	1	33292032	33292032	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33292032C>A	uc001bvz.2	+	3	609	c.332C>A	c.(331-333)CCT>CAT	p.P111H	S100PBP_uc001bwa.1_Missense_Mutation_p.P111H|S100PBP_uc001bwb.1_Missense_Mutation_p.P111H|S100PBP_uc001bwc.2_Missense_Mutation_p.P111H|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	111						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)																---	---	---	---
NCDN	23154	broad.mit.edu	37	1	36028847	36028847	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36028847C>A	uc001bza.2	+	6	1557	c.1430C>A	c.(1429-1431)CCC>CAC	p.P477H	NCDN_uc001bzb.2_Missense_Mutation_p.P477H|NCDN_uc001bzc.2_Missense_Mutation_p.P460H	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	477					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
EIF2C4	192670	broad.mit.edu	37	1	36307208	36307208	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36307208G>A	uc001bzj.1	+							NM_017629	NP_060099			eukaryotic translation initiation factor 2C, 4						mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36755130	36755130	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36755130C>T	uc001cae.3	+	5	1734	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	THRAP3_uc001caf.3_Missense_Mutation_p.R504W|THRAP3_uc001cag.1_Missense_Mutation_p.R504W	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	504					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								---	---	---	---
SF3A3	10946	broad.mit.edu	37	1	38444662	38444662	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38444662G>A	uc001cci.2	-	10	949	c.825C>T	c.(823-825)GGC>GGT	p.G275G	SF3A3_uc010oik.1_Silent_p.G222G	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	275					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39751055	39751055	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39751055T>C	uc010ois.1	+	14	1566	c.1361T>C	c.(1360-1362)CTG>CCG	p.L454P	MACF1_uc001cda.1_Missense_Mutation_p.L362P	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	454	LRR 4.				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)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39758498	39758498	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39758498C>T	uc010ois.1	+	18	2195	c.1990C>T	c.(1990-1992)CAG>TAG	p.Q664*	MACF1_uc001cda.1_Nonsense_Mutation_p.Q572*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	664					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)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39851380	39851380	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39851380T>C	uc010oiu.1	+	21	9574	c.9443T>C	c.(9442-9444)GTC>GCC	p.V3148A	MACF1_uc010ois.1_Missense_Mutation_p.V2646A|MACF1_uc001cda.1_Missense_Mutation_p.V2533A|MACF1_uc001cdc.1_Missense_Mutation_p.V1712A	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4713					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)															---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42049096	42049096	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42049096C>T	uc001cgz.3	-	4	2586	c.1373G>A	c.(1372-1374)CGG>CAG	p.R458Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R458Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	458	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)																---	---	---	---
CLDN19	149461	broad.mit.edu	37	1	43205659	43205659	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43205659C>T	uc001cht.1	-	1	267	c.76G>A	c.(76-78)GCC>ACC	p.A26T	CLDN19_uc001chu.2_Missense_Mutation_p.A26T|CLDN19_uc010ojv.1_Missense_Mutation_p.A26T	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	26	Helical; (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
WDR65	149465	broad.mit.edu	37	1	43675514	43675514	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43675514G>A	uc001cip.1	+	11	1977	c.1856G>A	c.(1855-1857)CGT>CAT	p.R619H	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.R608H|WDR65_uc001ciq.1_Missense_Mutation_p.R619H	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	619										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
CDC20	991	broad.mit.edu	37	1	43828733	43828733	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43828733C>T	uc001cix.2	+	11	1534	c.1433C>T	c.(1432-1434)GCG>GTG	p.A478V	CDC20_uc001ciy.2_Missense_Mutation_p.A478V	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	478	WD 7.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
HPDL	84842	broad.mit.edu	37	1	45793679	45793679	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45793679T>C	uc001cne.2	+	1	1135	c.859T>C	c.(859-861)TAC>CAC	p.Y287H		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	287					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
GPBP1L1	60313	broad.mit.edu	37	1	46096142	46096142	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46096142C>A	uc001coq.2	-						GPBP1L1_uc001coo.2_Intron	NM_021639	NP_067652			GC-rich promoter binding protein 1-like 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46193312	46193312	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46193312C>T	uc001cou.2	-	5	1306	c.1039G>A	c.(1039-1041)GCT>ACT	p.A347T	IPP_uc001cos.3_Missense_Mutation_p.A347T	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	347	Kelch 2.					actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46500323	46500323	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46500323C>T	uc001cov.2	+	29	4265	c.3982C>T	c.(3982-3984)CGC>TGC	p.R1328C	MAST2_uc001cow.2_Missense_Mutation_p.R1327C|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1328					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)																	---	---	---	---
ORC1L	4998	broad.mit.edu	37	1	52859407	52859407	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52859407G>A	uc001ctt.2	-	6	1009	c.790C>T	c.(790-792)CGG>TGG	p.R264W	ORC1L_uc010oni.1_Missense_Mutation_p.R264W|ORC1L_uc001ctu.2_Missense_Mutation_p.R264W|ORC1L_uc009vzd.2_Missense_Mutation_p.R18W	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	264					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0																		---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53732282	53732282	+	Silent	SNP	G	A	A	rs139974918		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53732282G>A	uc001cvi.1	-	9	1432	c.1290C>T	c.(1288-1290)CAC>CAT	p.H430H	LRP8_uc001cvh.1_Translation_Start_Site|LRP8_uc001cvk.1_Silent_p.H260H|LRP8_uc001cvj.1_Silent_p.H430H|LRP8_uc001cvl.1_Silent_p.H301H|LRP8_uc001cvm.1_Silent_p.H15H	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	430	Extracellular (Potential).			H -> Y (in Ref. 1; BAA09328, 2; BAA21824/ BAA21825 and 3; CAA99509).	cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0																		---	---	---	---
C1orf87	127795	broad.mit.edu	37	1	60491079	60491079	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60491079T>C	uc001czs.1	-	8	1213	c.1121A>G	c.(1120-1122)GAA>GGA	p.E374G		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	374							calcium ion binding			ovary(1)|breast(1)	2																		---	---	---	---
NFIA	4774	broad.mit.edu	37	1	61554228	61554228	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:61554228T>C	uc001czw.2	+	2	919	c.435T>C	c.(433-435)ACT>ACC	p.T145T	NFIA_uc001czy.2_Silent_p.T137T|NFIA_uc010oos.1_Silent_p.T190T|NFIA_uc001czv.2_Silent_p.T145T	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	145	CTF/NF-I.				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2																		---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62676034	62676034	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62676034C>T	uc001dae.3	+	4	1890	c.1588C>T	c.(1588-1590)CAC>TAC	p.H530Y		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	530										ovary(1)|skin(1)	2																		---	---	---	---
FOXD3	27022	broad.mit.edu	37	1	63789483	63789483	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63789483A>G	uc001dax.2	+	1	754	c.754A>G	c.(754-756)ATG>GTG	p.M252V		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	252					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66085623	66085623	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66085623C>A	uc001dci.2	+	17	2610	c.2408C>A	c.(2407-2409)CCC>CAC	p.P803H	LEPR_uc001dcg.2_Missense_Mutation_p.P803H|LEPR_uc001dch.2_Missense_Mutation_p.P803H|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.P803H|LEPR_uc001dck.2_Missense_Mutation_p.P803H	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	803	Extracellular (Potential).|Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---
WLS	79971	broad.mit.edu	37	1	68603590	68603590	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:68603590G>A	uc001def.1	-	11	1660	c.1389C>T	c.(1387-1389)GGC>GGT	p.G463G	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.G461G|WLS_uc001deg.1_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	463	Lumenal (Potential).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0																		---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70493956	70493956	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70493956C>T	uc001dep.2	+	16	1813	c.1783C>T	c.(1783-1785)CGT>TGT	p.R595C	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	595						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74649222	74649222	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74649222G>A	uc001dfy.3	-	2	339	c.147C>T	c.(145-147)TGC>TGT	p.C49C	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	49										ovary(2)	2																		---	---	---	---
AK5	26289	broad.mit.edu	37	1	77752792	77752792	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:77752792G>A	uc001dhn.2	+	2	484	c.227G>A	c.(226-228)CGG>CAG	p.R76Q	AK5_uc001dho.2_Missense_Mutation_p.R50Q|AK5_uc001dhm.1_Missense_Mutation_p.R76Q	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	76					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1																		---	---	---	---
NEXN	91624	broad.mit.edu	37	1	78383873	78383873	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78383873C>T	uc001dic.3	+	5	659	c.362C>T	c.(361-363)ACG>ATG	p.T121M	NEXN_uc001dia.3_Missense_Mutation_p.T121M|NEXN_uc009wcb.1_Missense_Mutation_p.T57M|NEXN_uc001dib.3_Missense_Mutation_p.T57M|NEXN_uc001did.1_Missense_Mutation_p.T45M|NEXN_uc001dif.1_Missense_Mutation_p.T13M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	121	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)														---	---	---	---
SSX2IP	117178	broad.mit.edu	37	1	85136475	85136475	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85136475T>C	uc001dkh.2	-	4	342	c.67A>G	c.(67-69)ACC>GCC	p.T23A	SSX2IP_uc001dkf.2_Translation_Start_Site|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Translation_Start_Site|SSX2IP_uc001dki.2_Missense_Mutation_p.T23A|SSX2IP_uc010osa.1_Translation_Start_Site|SSX2IP_uc001dkj.2_Missense_Mutation_p.T23A|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.T19A	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	23					cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)														---	---	---	---
MCOLN2	255231	broad.mit.edu	37	1	85431290	85431290	+	Missense_Mutation	SNP	C	T	T	rs145109809		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85431290C>T	uc001dkm.2	-	2	420	c.179G>A	c.(178-180)CGC>CAC	p.R60H	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	60						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)														---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86249817	86249817	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86249817G>T	uc001dlj.2	-	50	4242	c.4200C>A	c.(4198-4200)TTC>TTA	p.F1400L	COL24A1_uc001dli.2_Missense_Mutation_p.F536L|COL24A1_uc010osd.1_Missense_Mutation_p.F700L|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1400	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)														---	---	---	---
CLCA4	22802	broad.mit.edu	37	1	87029383	87029383	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:87029383G>C	uc009wcs.2	+	4	532	c.488G>C	c.(487-489)GGA>GCA	p.G163A	CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	163						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)														---	---	---	---
LRRC8B	23507	broad.mit.edu	37	1	90048284	90048284	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90048284C>T	uc001dni.2	+	7	582	c.75C>T	c.(73-75)GAC>GAT	p.D25D	LRRC8B_uc001dnh.2_Silent_p.D25D|LRRC8B_uc001dnj.2_Silent_p.D25D	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	25						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)														---	---	---	---
ZNF326	284695	broad.mit.edu	37	1	90473107	90473107	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90473107G>A	uc001dnq.2	+	5	552	c.413G>A	c.(412-414)CGT>CAT	p.R138H	ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	138	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91781412	91781412	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91781412C>T	uc001doa.3	-	28	3200	c.3100G>A	c.(3100-3102)GGT>AGT	p.G1034S	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.G713S|HFM1_uc001dob.3_Missense_Mutation_p.G222S|HFM1_uc010osv.1_Missense_Mutation_p.G718S	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1034	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91843716	91843716	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91843716G>A	uc001doa.3	-	11	1361	c.1261C>T	c.(1261-1263)CGT>TGT	p.R421C	HFM1_uc010osu.1_Missense_Mutation_p.R100C|HFM1_uc010osv.1_Missense_Mutation_p.R105C|HFM1_uc001doc.1_Missense_Mutation_p.R421C	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	421	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---
BRDT	676	broad.mit.edu	37	1	92443769	92443769	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92443769G>A	uc001dok.3	+	7	1363	c.1014G>A	c.(1012-1014)GCG>GCA	p.A338A	BRDT_uc001dol.3_Silent_p.A338A|BRDT_uc010osz.1_Silent_p.A342A|BRDT_uc009wdf.2_Silent_p.A265A|BRDT_uc010ota.1_Silent_p.A292A|BRDT_uc010otb.1_Silent_p.A292A|BRDT_uc001dom.3_Silent_p.A338A	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	338	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)														---	---	---	---
BTBD8	284697	broad.mit.edu	37	1	92595319	92595319	+	Silent	SNP	C	T	T	rs138139110	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92595319C>T	uc001doo.2	+	5	1005	c.738C>T	c.(736-738)TAC>TAT	p.Y246Y	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	246	BTB 2.					nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)														---	---	---	---
GLMN	11146	broad.mit.edu	37	1	92712097	92712097	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92712097C>T	uc001dor.2	-	19	1890	c.1775G>A	c.(1774-1776)GGG>GAG	p.G592E	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.G578E	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	592					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)										Multiple_Glomus_Tumors_(of_the_Skin)_Familial				---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94495142	94495142	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94495142C>T	uc001dqh.2	-	30	4502	c.4398G>A	c.(4396-4398)GTG>GTA	p.V1466V		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1466	Extracellular.				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)														---	---	---	---
AKNAD1	254268	broad.mit.edu	37	1	109369851	109369851	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109369851C>T	uc001dwa.2	-	11	2181	c.1912G>A	c.(1912-1914)GCA>ACA	p.A638T	AKNAD1_uc010ovb.1_Missense_Mutation_p.A345T|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	638										ovary(3)	3																		---	---	---	---
PSRC1	84722	broad.mit.edu	37	1	109823609	109823609	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109823609G>A	uc001dxg.2	-	5	906	c.784C>T	c.(784-786)CGC>TGC	p.R262C	PSRC1_uc001dxb.2_Missense_Mutation_p.R62C|PSRC1_uc001dxc.2_Missense_Mutation_p.R232C|PSRC1_uc001dxd.2_Missense_Mutation_p.R232C|PSRC1_uc001dxe.2_Missense_Mutation_p.R232C|PSRC1_uc001dxf.2_Intron|PSRC1_uc001dxh.2_Missense_Mutation_p.R232C|PSRC1_uc001dxi.2_Missense_Mutation_p.R232C|PSRC1_uc001dxj.2_Missense_Mutation_p.R262C	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1 isoform c	262	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding				0		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)														---	---	---	---
MYBPHL	343263	broad.mit.edu	37	1	109840109	109840109	+	Missense_Mutation	SNP	C	T	T	rs143926262		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109840109C>T	uc001dxk.1	-	3	415	c.365G>A	c.(364-366)CGC>CAC	p.R122H	MYBPHL_uc010ovh.1_Intron|MYBPHL_uc001dxl.2_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	122	Ig-like C2-type 1.									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)														---	---	---	---
ATXN7L2	127002	broad.mit.edu	37	1	110032913	110032913	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110032913G>A	uc001dxr.2	+	9	1272	c.1257G>A	c.(1255-1257)CGG>CGA	p.R419R	ATXN7L2_uc001dxs.2_Silent_p.R46R|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	419										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)												OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GNAI3	2773	broad.mit.edu	37	1	110129408	110129408	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110129408A>G	uc001dxz.2	+	7	935	c.778A>G	c.(778-780)ACA>GCA	p.T260A		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	260					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)														---	---	---	---
SLC6A17	388662	broad.mit.edu	37	1	110737297	110737297	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110737297C>T	uc009wfq.2	+	9	1857	c.1396C>T	c.(1396-1398)CTT>TTT	p.L466F	SLC6A17_uc001dze.1_Missense_Mutation_p.L64F	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	466	Helical; Name=8; (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)														---	---	---	---
KCNC4	3749	broad.mit.edu	37	1	110765858	110765858	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110765858C>T	uc001dzh.2	+	2	1008	c.951C>T	c.(949-951)ATC>ATT	p.I317I	KCNC4_uc001dzf.2_Silent_p.I317I|KCNC4_uc009wfr.2_Silent_p.I317I|KCNC4_uc001dzg.2_Silent_p.I317I|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	317	Helical; Name=Segment S3; (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)														---	---	---	---
KCNA2	3737	broad.mit.edu	37	1	111146620	111146620	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111146620G>A	uc001dzu.2	-	2	1281	c.785C>T	c.(784-786)GCC>GTC	p.A262V	KCNA2_uc009wfv.1_Missense_Mutation_p.A262V|KCNA2_uc009wfw.2_Missense_Mutation_p.A262V	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	262	Helical; Name=Segment S3; (Potential).					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)														---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117122210	117122210	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117122210G>A	uc001egr.1	-	10	3843	c.3138C>T	c.(3136-3138)GGC>GGT	p.G1046G	IGSF3_uc001egq.1_Silent_p.G1066G	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	1046	Ig-like C2-type 8.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)														---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117156664	117156664	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117156664C>T	uc001egr.1	-	4	1260	c.555G>A	c.(553-555)CGG>CGA	p.R185R	IGSF3_uc001egq.1_Silent_p.R185R	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	185	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118527387	118527387	+	Silent	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118527387T>G	uc001ehk.2	-	41	5756	c.5688A>C	c.(5686-5688)ACA>ACC	p.T1896T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1896	Potential.					cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
WARS2	10352	broad.mit.edu	37	1	119575832	119575832	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119575832A>G	uc001ehn.2	-	6	813	c.785T>C	c.(784-786)GTC>GCC	p.V262A	WARS2_uc010oxf.1_Missense_Mutation_p.V168A|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.V205A|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	262					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)													---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120462059	120462059	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120462059C>T	uc001eik.2	-	31	5913	c.5657G>A	c.(5656-5658)CGC>CAC	p.R1886H		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1886	Cytoplasmic (Potential).|ANK 2.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)				N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144882530	144882530	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144882530T>C	uc001elw.3	-	24	3780	c.3489A>G	c.(3487-3489)CAA>CAG	p.Q1163Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.Q170Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1163					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144994711	144994711	+	Silent	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144994711A>C	uc001elw.3	-	1	312	c.21T>G	c.(19-21)ACT>ACG	p.T7T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Silent_p.T7T|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001emc.1_Silent_p.T7T|PDE4DIP_uc001emd.1_Silent_p.T7T|PDE4DIP_uc001emg.1_Silent_p.T7T|PDE4DIP_uc001emh.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	7					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091961	147091961	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147091961G>A	uc001epq.2	+	8	2740	c.2000G>A	c.(1999-2001)CGC>CAC	p.R667H	BCL9_uc010ozr.1_Missense_Mutation_p.R593H	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	667	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)							T	IGH@|IGL@	B-ALL								---	---	---	---
NBPF15	284565	broad.mit.edu	37	1	148594462	148594462	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:148594462A>G	uc001esc.2	+	19	2324	c.1835A>G	c.(1834-1836)TAT>TGT	p.Y612C		NM_173638	NP_775909	Q8N660	NBPFF_HUMAN	hypothetical protein LOC284565	612	NBPF 6.					cytoplasm					0	all_hematologic(923;0.032)																	---	---	---	---
PLEKHO1	51177	broad.mit.edu	37	1	150128314	150128314	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150128314T>C	uc001ett.2	+	3	510	c.232T>C	c.(232-234)TGT>CGT	p.C78R	PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	78	PH.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
SEMA6C	10500	broad.mit.edu	37	1	151109008	151109008	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151109008C>T	uc001ewu.2	-	12	1322	c.1022G>A	c.(1021-1023)CGT>CAT	p.R341H	SEMA6C_uc001ewv.2_Missense_Mutation_p.R341H|SEMA6C_uc001eww.2_Missense_Mutation_p.R301H|SEMA6C_uc010pcq.1_Missense_Mutation_p.R341H	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	341	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	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;0.211)															---	---	---	---
ZNF687	57592	broad.mit.edu	37	1	151261869	151261869	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151261869C>T	uc001exq.2	+	5	2585	c.2487C>T	c.(2485-2487)TGC>TGT	p.C829C	ZNF687_uc009wmo.2_Silent_p.C829C|ZNF687_uc009wmp.2_Silent_p.C829C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	829	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152192304	152192304	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152192304C>T	uc001ezt.1	-	3	1877	c.1801G>A	c.(1801-1803)GGA>AGA	p.G601R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	601	6.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152382676	152382676	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152382676G>A	uc001ezx.2	-	3	956	c.882C>T	c.(880-882)CAC>CAT	p.H294H		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	294	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153910311	153910311	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153910311G>A	uc001fdd.1	-	14	2395	c.1994C>T	c.(1993-1995)CCG>CTG	p.P665L		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	665										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
ADAR	103	broad.mit.edu	37	1	154574993	154574993	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154574993T>C	uc001ffh.2	-	2	325	c.125A>G	c.(124-126)AAG>AGG	p.K42R	ADAR_uc001ffj.2_Missense_Mutation_p.K42R|ADAR_uc001ffi.2_Missense_Mutation_p.K42R|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_RNA|ADAR_uc001ffn.1_Missense_Mutation_p.K42R	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	42					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)														---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155152112	155152112	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155152112T>C	uc001fhs.1	+	8	1373	c.1290T>C	c.(1288-1290)CCT>CCC	p.P430P	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Silent_p.P430P|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.P304P|TRIM46_uc001fhu.1_Silent_p.P407P|TRIM46_uc009wpg.1_Silent_p.P417P|TRIM46_uc001fhv.3_Silent_p.P417P|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	430	Fibronectin type-III.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
ARHGEF2	9181	broad.mit.edu	37	1	155920909	155920909	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155920909G>A	uc001fmt.2	-	20	2532	c.2414C>T	c.(2413-2415)GCA>GTA	p.A805V	ARHGEF2_uc001fmq.2_Missense_Mutation_p.A43V|ARHGEF2_uc001fmr.2_Missense_Mutation_p.A777V|ARHGEF2_uc001fms.2_Missense_Mutation_p.A804V|ARHGEF2_uc001fmu.2_Missense_Mutation_p.A849V	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	805	Potential.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)																	---	---	---	---
MEX3A	92312	broad.mit.edu	37	1	156047125	156047125	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156047125A>G	uc001fnd.3	-	2	803	c.803T>C	c.(802-804)TTC>TCC	p.F268S		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	268	KH 2.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)																	---	---	---	---
HAPLN2	60484	broad.mit.edu	37	1	156593354	156593354	+	Silent	SNP	C	A	A	rs138640704	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156593354C>A	uc001fpn.1	+	3	479	c.72C>A	c.(70-72)GCC>GCA	p.A24A	HAPLN2_uc010phq.1_Silent_p.A24A	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	24					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
PEAR1	375033	broad.mit.edu	37	1	156879535	156879535	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156879535T>C	uc001fqj.1	+						PEAR1_uc001fqk.1_Intron	NM_001080471	NP_001073940			platelet endothelial aggregation receptor 1							integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156917127	156917127	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156917127G>A	uc001fqo.2	-	25	3377	c.2337C>T	c.(2335-2337)TTC>TTT	p.F779F	ARHGEF11_uc010phu.1_Silent_p.F195F|ARHGEF11_uc001fqn.2_Silent_p.F819F	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	779	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157665908	157665908	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157665908C>T	uc001frb.2	-	7	1346	c.1054G>A	c.(1054-1056)GAT>AAT	p.D352N	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.D352N|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.D78N|FCRL3_uc001frc.1_Missense_Mutation_p.D352N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	352	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)																	---	---	---	---
KIRREL	55243	broad.mit.edu	37	1	158061243	158061243	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158061243C>T	uc001frn.3	+	11	1772	c.1368C>T	c.(1366-1368)CTC>CTT	p.L456L	KIRREL_uc010pib.1_Silent_p.L356L|KIRREL_uc009wsq.2_Silent_p.L292L|KIRREL_uc001fro.3_Silent_p.L270L	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	456	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158587389	158587389	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158587389A>G	uc001fst.1	-							NM_003126	NP_003117			spectrin, alpha, erythrocytic 1						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
SLAMF8	56833	broad.mit.edu	37	1	159796723	159796723	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159796723G>T	uc001fue.3	+	1	245	c.35G>T	c.(34-36)TGG>TTG	p.W12L		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	12						integral to membrane					0	all_hematologic(112;0.0597)																	---	---	---	---
SLAMF8	56833	broad.mit.edu	37	1	159799686	159799686	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159799686A>G	uc001fue.3	+	2	281	c.71A>G	c.(70-72)CAA>CGA	p.Q24R		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	24	Extracellular (Potential).					integral to membrane					0	all_hematologic(112;0.0597)																	---	---	---	---
CCDC19	25790	broad.mit.edu	37	1	159842872	159842872	+	Missense_Mutation	SNP	C	T	T	rs147644439		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159842872C>T	uc001fui.2	-	11	1457	c.1439G>A	c.(1438-1440)CGC>CAC	p.R480H	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R395H|CCDC19_uc001ful.2_Missense_Mutation_p.R395H	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	480	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)															---	---	---	---
TAGLN2	8407	broad.mit.edu	37	1	159889527	159889527	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159889527G>A	uc001fum.1	-	2	329	c.279C>T	c.(277-279)ATC>ATT	p.I93I	CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Silent_p.I93I|TAGLN2_uc001fuo.1_Silent_p.I93I|TAGLN2_uc010piy.1_3'UTR	NM_003564	NP_003555	P37802	TAGL2_HUMAN	transgelin 2	93	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding				0	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160091015	160091015	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160091015C>T	uc001fvc.2	+	3	283	c.151C>T	c.(151-153)CGC>TGC	p.R51C	ATP1A2_uc001fvb.2_Missense_Mutation_p.R51C|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	51	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160104956	160104956	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160104956G>A	uc001fvc.2	+	15	2118	c.1986G>A	c.(1984-1986)GTG>GTA	p.V662V	ATP1A2_uc001fvb.2_Silent_p.V662V|ATP1A2_uc001fvd.2_Silent_p.V398V	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	662	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161163532	161163532	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161163532G>T	uc001fyt.3	-	6	2061	c.1633C>A	c.(1633-1635)CGA>AGA	p.R545R		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	545	TSP type-1.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)															---	---	---	---
SDHC	6391	broad.mit.edu	37	1	161298208	161298208	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161298208G>A	uc001gag.2	+	3	130	c.100G>A	c.(100-102)GCC>ACC	p.A34T	SDHC_uc001gai.2_Missense_Mutation_p.A34T|SDHC_uc001gaj.2_Intron|SDHC_uc001gak.2_Intron|SDHC_uc001gah.2_Intron	NM_003001	NP_002992	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C	34	Mitochondrial matrix (By similarity).				respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity				0	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome				---	---	---	---
FCGR2B	2213	broad.mit.edu	37	1	161642933	161642933	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161642933A>G	uc001gaz.1	+	4	652	c.560A>G	c.(559-561)AAC>AGC	p.N187S	FCGR2B_uc009wum.1_Missense_Mutation_p.N187S|FCGR2B_uc001gay.1_Missense_Mutation_p.N186S|FCGR2B_uc001gba.1_Missense_Mutation_p.N186S|FCGR2B_uc001gbb.1_Missense_Mutation_p.N187S|FCGR2B_uc009wun.1_Missense_Mutation_p.N180S	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor	187	Ig-like C2-type 2.|Extracellular (Potential).				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)			T	?	ALL								---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161969979	161969979	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161969979G>T	uc001gbu.2	-	5	1297	c.873C>A	c.(871-873)TCC>TCA	p.S291S	OLFML2B_uc010pkq.1_Silent_p.S292S	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	291										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)															---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167097443	167097443	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167097443G>A	uc001geb.1	+	5	3075	c.3075G>A	c.(3073-3075)ACG>ACA	p.T1025T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1025	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3																		---	---	---	---
GPR161	23432	broad.mit.edu	37	1	168059836	168059836	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168059836C>T	uc001gfc.2	-	6	1484	c.1170G>A	c.(1168-1170)ACG>ACA	p.T390T	GPR161_uc001gfb.2_Silent_p.T258T|GPR161_uc010pll.1_Silent_p.T300T|GPR161_uc010plm.1_Silent_p.T276T|GPR161_uc009wvo.2_Silent_p.T407T|GPR161_uc001gfd.2_Silent_p.T390T|GPR161_uc010pln.1_Silent_p.T410T|GPR161_uc001gfe.1_Silent_p.T390T	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	390	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)																	---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168262443	168262443	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168262443C>T	uc001gfl.2	+	3	581	c.530C>T	c.(529-531)GCC>GTC	p.A177V	TBX19_uc001gfj.3_Missense_Mutation_p.A108V	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	177	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)																	---	---	---	---
XCL1	6375	broad.mit.edu	37	1	168550351	168550351	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168550351G>A	uc001gfo.1	+	3	258	c.238G>A	c.(238-240)GTG>ATG	p.V80M		NM_002995	NP_002986	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	80					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity				0	all_hematologic(923;0.208)																	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171254496	171254496	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171254496A>G	uc009wvz.2	+	9	1548	c.1412A>G	c.(1411-1413)TAC>TGC	p.Y471C	FMO1_uc010pme.1_Missense_Mutation_p.Y408C|FMO1_uc001ghl.2_Missense_Mutation_p.Y471C|FMO1_uc001ghm.2_Missense_Mutation_p.Y471C|FMO1_uc001ghn.2_3'UTR	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	471					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
C1orf9	51430	broad.mit.edu	37	1	172520731	172520731	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172520731G>A	uc001giq.3	+	2	458	c.142G>A	c.(142-144)GCA>ACA	p.A48T	C1orf9_uc010pmm.1_Missense_Mutation_p.A48T|C1orf9_uc009wwd.2_Missense_Mutation_p.A48T|C1orf9_uc010pmn.1_Missense_Mutation_p.A48T|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	48					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)														---	---	---	---
C1orf9	51430	broad.mit.edu	37	1	172558904	172558904	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172558904A>G	uc001giq.3	+	18	2979	c.2663A>G	c.(2662-2664)TAT>TGT	p.Y888C	C1orf9_uc010pmm.1_Missense_Mutation_p.Y888C|C1orf9_uc009wwd.2_Missense_Mutation_p.Y844C|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	888					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)														---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173883880	173883880	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173883880C>T	uc001gjt.2	-	2	338	c.219G>A	c.(217-219)CCG>CCA	p.P73P		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	73			P -> L (in AT3D; type-II; Basel/ Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174417662	174417662	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174417662A>G	uc001gka.1	+	1	451	c.413A>G	c.(412-414)GAT>GGT	p.D138G	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	138	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---
TNN	63923	broad.mit.edu	37	1	175067522	175067522	+	Missense_Mutation	SNP	C	T	T	rs144603425	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175067522C>T	uc001gkl.1	+	9	2023	c.1910C>T	c.(1909-1911)ACG>ATG	p.T637M	TNN_uc010pmx.1_Missense_Mutation_p.T548M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	637	Fibronectin type-III 5.				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)														---	---	---	---
TNN	63923	broad.mit.edu	37	1	175096130	175096130	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175096130C>T	uc001gkl.1	+	13	3067	c.2954C>T	c.(2953-2955)ACG>ATG	p.T985M		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	985	Fibronectin type-III 9.				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)														---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178421675	178421675	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:178421675G>A	uc001glr.2	+	9	1578	c.1453G>A	c.(1453-1455)GCC>ACC	p.A485T	RASAL2_uc001glq.2_Missense_Mutation_p.A633T|RASAL2_uc009wxc.2_5'UTR	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	485	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5																		---	---	---	---
ABL2	27	broad.mit.edu	37	1	179078139	179078139	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179078139G>A	uc001gmj.3	-	12	2550	c.2263C>T	c.(2263-2265)CGC>TGC	p.R755C	ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Missense_Mutation_p.R734C|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Missense_Mutation_p.R740C|ABL2_uc001gmh.3_Missense_Mutation_p.R719C|ABL2_uc010pne.1_Intron	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	755	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)			T	ETV6	AML								---	---	---	---
TOR1AIP1	26092	broad.mit.edu	37	1	179887298	179887298	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179887298G>A	uc001gnq.2	+	10	1894	c.1676G>A	c.(1675-1677)GGC>GAC	p.G559D		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	559	Lumenal (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2																		---	---	---	---
LHX4	89884	broad.mit.edu	37	1	180241138	180241138	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180241138C>T	uc001goe.1	+	5	998	c.775C>T	c.(775-777)CGA>TGA	p.R259*	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	259						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R259R(1)		ovary(1)	1																		---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182550478	182550478	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182550478A>C	uc001gpj.1	-	4	1954	c.1787T>G	c.(1786-1788)CTT>CGT	p.L596R	RNASEL_uc009wxz.1_Missense_Mutation_p.L596R|RNASEL_uc001gpk.2_Missense_Mutation_p.L596R	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	596	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5														Hereditary_Prostate_Cancer				---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183212369	183212369	+	Missense_Mutation	SNP	G	A	A	rs144652590		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183212369G>A	uc001gqa.2	+	23	3730	c.3416G>A	c.(3415-3417)CGG>CAG	p.R1139Q		NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1139	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3																		---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183538297	183538297	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183538297C>T	uc001gqj.3	-	7	968	c.693G>A	c.(691-693)CCG>CCA	p.P231P	NCF2_uc010pod.1_Silent_p.P186P|NCF2_uc010poe.1_Silent_p.P150P|NCF2_uc001gqk.3_Silent_p.P231P	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	231					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3																		---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184706204	184706204	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184706204A>G	uc010pok.1	-						EDEM3_uc010pol.1_Intron|EDEM3_uc010pom.1_Intron|EDEM3_uc001gqy.2_Intron	NM_025191	NP_079467			ER degradation enhancer, mannosidase alpha-like						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186120321	186120321	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186120321T>C	uc001grq.1	+						HMCN1_uc001grs.1_Intron	NM_031935	NP_114141			hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
RGS1	5996	broad.mit.edu	37	1	192545493	192545493	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:192545493T>C	uc001gsi.1	+	2	282	c.216T>C	c.(214-216)GAT>GAC	p.D72D	RGS1_uc010pou.1_Silent_p.D72D	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	72					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)																---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196967437	196967437	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196967437A>G	uc001gts.3	+							NM_030787	NP_110414			complement factor H-related 5 precursor						complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198711039	198711039	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198711039G>A	uc001gur.1	+	24	2619	c.2439G>A	c.(2437-2439)CAG>CAA	p.Q813Q	PTPRC_uc001gus.1_Silent_p.Q765Q|PTPRC_uc001gut.1_Silent_p.Q652Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	813	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
MIR181A1	406995	broad.mit.edu	37	1	198828243	198828243	+	RNA	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198828243C>A	hsa-mir-181a-1|MI0000289	-			c.40C>A			uc001gux.1_5'Flank|MIR181B1_hsa-mir-181b-1|MI0000270_5'Flank|uc001guy.2_RNA																	0																		---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200968549	200968549	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200968549G>A	uc001gvs.1	-	13	2130	c.1813C>T	c.(1813-1815)CGC>TGC	p.R605C	KIF21B_uc001gvr.1_Missense_Mutation_p.R605C|KIF21B_uc009wzl.1_Missense_Mutation_p.R605C|KIF21B_uc010ppn.1_Missense_Mutation_p.R605C	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	605					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201750232	201750232	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201750232C>T	uc001gwu.2	+	5	1805	c.1458C>T	c.(1456-1458)TAC>TAT	p.Y486Y	NAV1_uc001gwv.1_Translation_Start_Site|NAV1_uc001gww.1_Silent_p.Y95Y|NAV1_uc001gwx.2_Silent_p.Y95Y|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	486					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779831	201779831	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201779831G>A	uc001gwu.2	+	23	5080	c.4733G>A	c.(4732-4734)CGT>CAT	p.R1578H	NAV1_uc001gwx.2_Missense_Mutation_p.R1187H	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1581					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
TIMM17A	10440	broad.mit.edu	37	1	201926647	201926647	+	Missense_Mutation	SNP	C	G	G	rs11555424		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201926647C>G	uc001gxc.2	+	3	171	c.135C>G	c.(133-135)AAC>AAG	p.N45K		NM_006335	NP_006326	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17	45					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity				0																		---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202710666	202710666	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202710666T>G	uc001gyf.2	-	19	2890	c.2774A>C	c.(2773-2775)CAA>CCA	p.Q925P	KDM5B_uc009xag.2_Missense_Mutation_p.Q961P|KDM5B_uc001gyg.1_Missense_Mutation_p.Q767P	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	925					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5																		---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203821512	203821512	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203821512A>G	uc001hac.2	+	20	3034	c.2418A>G	c.(2416-2418)GAA>GAG	p.E806E	ZC3H11A_uc001had.2_Silent_p.E806E|ZC3H11A_uc001hae.2_Silent_p.E806E|ZC3H11A_uc001haf.2_Silent_p.E806E|ZC3H11A_uc010pqm.1_Silent_p.E752E	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	806							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
SOX13	9580	broad.mit.edu	37	1	204091075	204091075	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204091075A>G	uc001ham.2	+	8	1418	c.823A>G	c.(823-825)AAG>GAG	p.K275E	SOX13_uc010pqp.1_Missense_Mutation_p.K274E|SOX13_uc010pqq.1_Missense_Mutation_p.K142E	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	275	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
CR2	1380	broad.mit.edu	37	1	207644832	207644832	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207644832C>T	uc001hfw.2	+	9	1652	c.1558C>T	c.(1558-1560)CGT>TGT	p.R520C	CR2_uc001hfv.2_Missense_Mutation_p.R520C|CR2_uc009xch.2_Missense_Mutation_p.R520C|CR2_uc009xci.1_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	520	Sushi 8.|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																		---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209797343	209797343	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:209797343C>T	uc001hhg.2	-	14	2369	c.1979G>A	c.(1978-1980)CGA>CAA	p.R660Q	LAMB3_uc009xco.2_Missense_Mutation_p.R660Q|LAMB3_uc001hhh.2_Missense_Mutation_p.R660Q|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	660	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)														---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209963054	209963054	+	Nonsense_Mutation	SNP	C	T	T	rs121434228		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:209963054C>T	uc001hhq.1	-	8	1400	c.1137G>A	c.(1135-1137)TGG>TGA	p.W379*	IRF6_uc010psm.1_Nonsense_Mutation_p.W284*|IRF6_uc009xct.1_Nonsense_Mutation_p.W379*	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	379					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)											HNSCC(57;0.16)			---	---	---	---
PPP2R5A	5525	broad.mit.edu	37	1	212532095	212532095	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212532095G>A	uc001hjb.2	+	12	1868	c.1294G>A	c.(1294-1296)GAC>AAC	p.D432N	PPP2R5A_uc010ptd.1_Missense_Mutation_p.D373N	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	432					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)														---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220835431	220835431	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220835431C>T	uc001hmn.3	+	18	2908	c.2311C>T	c.(2311-2313)CGC>TGC	p.R771C	MARK1_uc009xdw.2_Missense_Mutation_p.R772C|MARK1_uc010pun.1_Missense_Mutation_p.R756C|MARK1_uc001hmm.3_Missense_Mutation_p.R734C	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	771	KA1.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)														---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222716949	222716949	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222716949C>A	uc001hnh.1	-	2	962	c.904G>T	c.(904-906)GAA>TAA	p.E302*		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	302					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)														---	---	---	---
FAM177B	400823	broad.mit.edu	37	1	222922880	222922880	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222922880C>T	uc001hnt.2	+	5	581	c.315C>T	c.(313-315)AAC>AAT	p.N105N	uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	hypothetical protein LOC400823	105										ovary(1)	1																		---	---	---	---
H3F3A	3020	broad.mit.edu	37	1	226259158	226259158	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226259158G>A	uc001hpw.2	+	4	504	c.389G>A	c.(388-390)CGC>CAC	p.R130H		NM_005324	NP_005315	P84243	H33_HUMAN	H3 histone, family 3B	130					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding				0	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)														---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226924312	226924312	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226924312G>A	uc010pvo.1	-	2	1188	c.848C>T	c.(847-849)CCG>CTG	p.P283L	ITPKB_uc001hqh.2_Missense_Mutation_p.P283L	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	283							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)																---	---	---	---
GJC2	57165	broad.mit.edu	37	1	228345575	228345575	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228345575C>T	uc001hsk.2	+	2	291	c.116C>T	c.(115-117)ACG>ATG	p.T39M		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	39	Helical; (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228466411	228466411	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228466411G>A	uc009xez.1	+	26	6925	c.6881G>A	c.(6880-6882)CGC>CAC	p.R2294H	OBSCN_uc001hsn.2_Missense_Mutation_p.R2294H|OBSCN_uc001hsp.1_5'UTR|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2294	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228480371	228480371	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228480371T>C	uc009xez.1	+	40	10795	c.10751T>C	c.(10750-10752)CTG>CCG	p.L3584P	OBSCN_uc001hsn.2_Missense_Mutation_p.L3584P|OBSCN_uc001hsq.1_Missense_Mutation_p.L840P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3584	Ig-like 36.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228505745	228505745	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228505745C>T	uc009xez.1	+	53	14046	c.14002C>T	c.(14002-14004)CGG>TGG	p.R4668W	OBSCN_uc001hsn.2_Missense_Mutation_p.R4668W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4668	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228548354	228548354	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228548354C>A	uc009xez.1	+						OBSCN_uc001hsn.2_Silent_p.T6587T|OBSCN_uc001hsr.1_Intron|OBSCN_uc009xfa.2_Silent_p.T249T	NM_001098623	NP_001092093			obscurin, cytoskeletal calmodulin and						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229606455	229606455	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229606455C>T	uc001htn.2	-	15	2040	c.1948G>A	c.(1948-1950)GCC>ACC	p.A650T		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	650					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650507	232650507	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232650507T>C	uc001hvg.2	-	1	737	c.579A>G	c.(577-579)GGA>GGG	p.G193G		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	193					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---
KCNK1	3775	broad.mit.edu	37	1	233802452	233802452	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233802452T>C	uc010pxo.1	+	2	635	c.467T>C	c.(466-468)ATC>ACC	p.I156T	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	156	Cytoplasmic (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)													---	---	---	---
NID1	4811	broad.mit.edu	37	1	236189283	236189283	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236189283G>T	uc001hxo.2	-	8	1999	c.1897C>A	c.(1897-1899)CTC>ATC	p.L633I	NID1_uc009xgd.2_Missense_Mutation_p.L633I	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	633	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)													---	---	---	---
GPR137B	7107	broad.mit.edu	37	1	236371377	236371377	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236371377A>G	uc001hxq.2	+	7	1210	c.1119A>G	c.(1117-1119)GGA>GGG	p.G373G	GPR137B_uc001hxr.1_3'UTR|GPR137B_uc009xge.2_RNA	NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	373	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)															---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236719118	236719118	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236719118G>A	uc001hyd.1	-	39	5761	c.5636C>T	c.(5635-5637)GCC>GTC	p.A1879V	HEATR1_uc009xgh.1_Missense_Mutation_p.A1041V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1879					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236721561	236721561	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236721561G>A	uc001hyd.1	-	36	5305	c.5180C>T	c.(5179-5181)GCG>GTG	p.A1727V	HEATR1_uc009xgh.1_Missense_Mutation_p.A889V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1727					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236925802	236925802	+	Silent	SNP	G	A	A	rs149554430		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236925802G>A	uc001hyf.2	+	21	2772	c.2568G>A	c.(2566-2568)CCG>CCA	p.P856P	ACTN2_uc001hyg.2_Silent_p.P648P|ACTN2_uc009xgi.1_Silent_p.P856P|ACTN2_uc010pxu.1_Silent_p.P545P|ACTN2_uc001hyh.2_Silent_p.P544P	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	856					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)															---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240255930	240255930	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240255930G>T	uc010pyd.1	+	1	746	c.521G>T	c.(520-522)AGG>ATG	p.R174M	FMN2_uc010pye.1_Missense_Mutation_p.R174M	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	174					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370992	240370992	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240370992C>T	uc010pyd.1	+	5	3105	c.2880C>T	c.(2878-2880)CCC>CCT	p.P960P	FMN2_uc010pye.1_Silent_p.P964P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	960	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243289821	243289821	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243289821G>A	uc001hzs.2	-	20	5093	c.4685C>T	c.(4684-4686)GCT>GTT	p.A1562V	CEP170_uc001hzt.2_Missense_Mutation_p.A1438V|CEP170_uc001hzu.2_Missense_Mutation_p.A1464V|CEP170_uc001hzr.2_Missense_Mutation_p.A151V|CEP170_uc001hzv.1_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1562	Targeting to microtubules.|Targeting to centrosomes.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245849899	245849899	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245849899G>A	uc001ibf.1	+	12	4054	c.3614G>A	c.(3613-3615)GGC>GAC	p.G1205D	KIF26B_uc001ibg.1_Missense_Mutation_p.G823D|KIF26B_uc001ibh.1_Missense_Mutation_p.G447D	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1205					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
TFB2M	64216	broad.mit.edu	37	1	246729434	246729434	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246729434T>A	uc001ibn.2	-	1	132	c.7A>T	c.(7-9)ATC>TTC	p.I3F	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	3					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)															---	---	---	---
CNST	163882	broad.mit.edu	37	1	246823624	246823624	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246823624A>G	uc001ibp.2	+	10	2338	c.1960A>G	c.(1960-1962)AGC>GGC	p.S654G		NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	654					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0																		---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247599264	247599264	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247599264T>C	uc001icr.2	+						NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Intron|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Intron	NM_001079821	NP_001073289			NLR family, pyrin domain containing 3 isoform a						detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)															---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247615291	247615291	+	5'Flank	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247615291G>A	uc010pyx.1	-							NM_001004492	NP_001004492			olfactory receptor, family 2, subfamily B,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875954	247875954	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875954T>C	uc001idj.1	-	1	104	c.104A>G	c.(103-105)TAC>TGC	p.Y35C		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1653400	1653400	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1653400C>T	uc002qxa.2	-	17	2216	c.2152G>A	c.(2152-2154)GCA>ACA	p.A718T		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	718					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)														---	---	---	---
TTC15	51112	broad.mit.edu	37	2	3481504	3481504	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3481504C>T	uc002qxm.1	+	10	2021	c.1815C>T	c.(1813-1815)GAC>GAT	p.D605D	TTC15_uc002qxn.1_Silent_p.D605D|TTC15_uc010ewm.1_Silent_p.D611D	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	605	TPR 2.						binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)														---	---	---	---
IAH1	285148	broad.mit.edu	37	2	9628371	9628371	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9628371C>A	uc002qzr.2	+	6	686	c.660C>A	c.(658-660)GTC>GTA	p.V220V	IAH1_uc002qzs.2_Silent_p.V107V|IAH1_uc002qzt.2_Silent_p.V107V|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	220					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
GRHL1	29841	broad.mit.edu	37	2	10140825	10140825	+	Missense_Mutation	SNP	C	T	T	rs143356570		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10140825C>T	uc002raa.2	+	16	2018	c.1847C>T	c.(1846-1848)ACG>ATG	p.T616M	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.T427M|GRHL1_uc010yjb.1_Missense_Mutation_p.T465M	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	616					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)														---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10908887	10908887	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10908887G>A	uc002ras.2	+	6	530	c.421G>A	c.(421-423)GCC>ACC	p.A141T	ATP6V1C2_uc002rat.2_Missense_Mutation_p.A141T	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	141					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)														---	---	---	---
KCNF1	3754	broad.mit.edu	37	2	11053802	11053802	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11053802G>A	uc002rax.2	+	1	1740	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	417	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)														---	---	---	---
LPIN1	23175	broad.mit.edu	37	2	11923961	11923961	+	Missense_Mutation	SNP	G	A	A	rs115521500	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11923961G>A	uc010yjn.1	+	9	1437	c.1163G>A	c.(1162-1164)CGA>CAA	p.R388Q	LPIN1_uc010yjm.1_Missense_Mutation_p.R473Q|LPIN1_uc002rbt.2_Missense_Mutation_p.R388Q|LPIN1_uc002rbs.2_Missense_Mutation_p.R424Q	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	388					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)														---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15307394	15307394	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15307394C>T	uc002rcc.1	-	52	6920	c.6894G>A	c.(6892-6894)AAG>AAA	p.K2298K	NBAS_uc002rcb.1_Silent_p.K138K|NBAS_uc010exl.1_Silent_p.K1370K|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	2298										ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15432888	15432888	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15432888A>G	uc002rcc.1	-	41	4826	c.4800T>C	c.(4798-4800)GCT>GCC	p.A1600A	NBAS_uc010exl.1_Silent_p.A672A|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1600										ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17941286	17941286	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17941286A>C	uc002rct.2	+	2	149	c.76A>C	c.(76-78)ACC>CCC	p.T26P	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.T26P|GEN1_uc002rcu.2_Missense_Mutation_p.T26P	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	26	N-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)												Homologous_recombination					---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17961961	17961961	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17961961A>C	uc002rct.2	+	14	1555	c.1482A>C	c.(1480-1482)AAA>AAC	p.K494N	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.K494N|GEN1_uc002rcu.2_Missense_Mutation_p.K494N	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	494					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)												Homologous_recombination					---	---	---	---
APOB	338	broad.mit.edu	37	2	21233212	21233212	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21233212T>C	uc002red.2	-	26	6656	c.6528A>G	c.(6526-6528)ACA>ACG	p.T2176T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2176	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
APOB	338	broad.mit.edu	37	2	21235467	21235467	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21235467A>G	uc002red.2	-	26	4401	c.4273T>C	c.(4273-4275)TCT>CCT	p.S1425P		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1425					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693574	26693574	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26693574C>T	uc002rhk.2	-	32	4037	c.3910G>A	c.(3910-3912)GAG>AAG	p.E1304K	OTOF_uc010yla.1_Missense_Mutation_p.E34K|OTOF_uc002rhh.2_Missense_Mutation_p.E537K|OTOF_uc002rhi.2_Missense_Mutation_p.E614K|OTOF_uc002rhj.2_Missense_Mutation_p.E537K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1304	Cytoplasmic (Potential).|Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26696092	26696092	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26696092C>T	uc002rhk.2	-	29	3768	c.3641G>A	c.(3640-3642)CGC>CAC	p.R1214H	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Missense_Mutation_p.R467H|OTOF_uc002rhi.2_Missense_Mutation_p.R524H|OTOF_uc002rhj.2_Missense_Mutation_p.R467H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1214	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27481120	27481120	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27481120C>A	uc002rjk.2	-	3	519	c.333G>T	c.(331-333)GCG>GCT	p.A111A	SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Silent_p.A106A	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	111	Helical; (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
GPN1	11321	broad.mit.edu	37	2	27851977	27851977	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27851977C>T	uc010ymc.1	+	1	115	c.94C>T	c.(94-96)CAC>TAC	p.H32Y	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_5'Flank|CCDC121_uc002rld.2_5'Flank|CCDC121_uc002rle.2_5'Flank|GPN1_uc010ezf.2_Intron|GPN1_uc010yma.1_Intron|GPN1_uc010ymb.1_Intron|GPN1_uc010ymd.1_5'UTR|GPN1_uc010yme.1_Missense_Mutation_p.H32Y|GPN1_uc010ezg.1_5'Flank	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	18						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0																		---	---	---	---
FOSL2	2355	broad.mit.edu	37	2	28627079	28627079	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28627079A>G	uc002rma.2	+	2	1017	c.208A>G	c.(208-210)ACC>GCC	p.T70A	FOSL2_uc010ymi.1_Missense_Mutation_p.T31A	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	70					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
TRMT61B	55006	broad.mit.edu	37	2	29083987	29083987	+	Silent	SNP	G	A	A	rs145705706		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29083987G>A	uc002rmm.2	-	3	1022	c.990C>T	c.(988-990)GAC>GAT	p.D330D	TRMT61B_uc002rmn.2_Silent_p.D330D|TRMT61B_uc010ezk.2_RNA	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B	330							tRNA (adenine-N1-)-methyltransferase activity				0																		---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30987098	30987098	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30987098A>G	uc002rnn.2	-	6	775	c.599T>C	c.(598-600)ATC>ACC	p.I200T	CAPN13_uc002rnp.1_Missense_Mutation_p.I200T	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	200	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
CRIM1	51232	broad.mit.edu	37	2	36704126	36704126	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:36704126C>T	uc002rpd.2	+	6	1125	c.1086C>T	c.(1084-1086)GGC>GGT	p.G362G		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	362	VWFC 1.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)																---	---	---	---
VIT	5212	broad.mit.edu	37	2	37035710	37035710	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37035710C>T	uc002rpl.2	+	15	1706	c.1485C>T	c.(1483-1485)GAC>GAT	p.D495D	VIT_uc002rpm.2_Silent_p.D473D|VIT_uc010ezv.2_Silent_p.D451D|VIT_uc010ezw.2_Silent_p.D452D	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	480						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)																---	---	---	---
THUMPD2	80745	broad.mit.edu	37	2	39964026	39964026	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39964026G>A	uc002rru.2	-	10	1398	c.1361C>T	c.(1360-1362)GCG>GTG	p.A454V	THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.A345V	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	454							methyltransferase activity			skin(1)	1		all_hematologic(82;0.248)																---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44099366	44099366	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44099366G>A	uc002rtq.2	+	8	1222	c.1132G>A	c.(1132-1134)GTG>ATG	p.V378M	ABCG8_uc010yoa.1_Missense_Mutation_p.V377M	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	378	Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
SIX3	6496	broad.mit.edu	37	2	45169972	45169972	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45169972C>T	uc002run.1	+	1	936	c.729C>T	c.(727-729)ACC>ACT	p.T243T		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	243	Homeobox.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
PRKCE	5581	broad.mit.edu	37	2	45879393	45879393	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45879393G>A	uc002rut.2	+	1	351	c.154G>A	c.(154-156)GGC>AGC	p.G52S		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	52	C2.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)															---	---	---	---
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808788	48808788	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48808788G>A	uc010yol.1	+	1	1063	c.1016G>A	c.(1015-1017)AGT>AAT	p.S339N	STON1_uc002rwo.3_Missense_Mutation_p.S339N|STON1_uc010fbm.2_Missense_Mutation_p.S339N|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S339N|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.S339N	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	339					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49190059	49190059	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:49190059C>T	uc002rww.2	-	10	1975	c.1901G>A	c.(1900-1902)CGC>CAC	p.R634H	FSHR_uc002rwx.2_Missense_Mutation_p.R572H|FSHR_uc010fbn.2_Missense_Mutation_p.R608H	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	634	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.R634R(1)		ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									Gonadal_Dysgenesis_46_XX				---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	51255151	51255151	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:51255151G>A	uc010fbq.2	-	2	1738	c.261C>T	c.(259-261)GGC>GGT	p.G87G	NRXN1_uc002rxe.3_Silent_p.G87G|NRXN1_uc002rxd.1_Silent_p.G87G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54119956	54119956	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54119956T>A	uc002rxp.2	-	36	4236	c.4180A>T	c.(4180-4182)ACA>TCA	p.T1394S	PSME4_uc010yop.1_Missense_Mutation_p.T1280S|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.T769S|PSME4_uc010fbv.1_Missense_Mutation_p.T538S	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1394					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
C2orf73	129852	broad.mit.edu	37	2	54570910	54570910	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54570910C>T	uc002rxt.1	+	3	330	c.288C>T	c.(286-288)TAC>TAT	p.Y96Y	C2orf73_uc010yor.1_Silent_p.Y38Y|C2orf73_uc002rxs.1_Translation_Start_Site|C2orf73_uc010yos.1_RNA	NM_001100396	NP_001093866	Q8N5S3	CB073_HUMAN	hypothetical protein LOC129852	96											0																		---	---	---	---
PNPT1	87178	broad.mit.edu	37	2	55870530	55870530	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55870530G>A	uc002rzf.2	-	24	1990	c.1937C>T	c.(1936-1938)ACG>ATG	p.T646M	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	646	KH.				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---
PUS10	150962	broad.mit.edu	37	2	61188656	61188656	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61188656T>C	uc010fci.2	-	10	876	c.816A>G	c.(814-816)CCA>CCG	p.P272P	PUS10_uc002sao.2_Silent_p.P272P|PUS10_uc010ypk.1_Silent_p.P49P	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	272					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)															---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64111196	64111196	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64111196C>T	uc002scm.2	+	5	850	c.544C>T	c.(544-546)CGT>TGT	p.R182C	UGP2_uc002scl.2_Missense_Mutation_p.R171C|UGP2_uc010ypx.1_Missense_Mutation_p.R191C	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	182					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0																		---	---	---	---
CEP68	23177	broad.mit.edu	37	2	65298797	65298797	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:65298797C>T	uc002sdl.3	+	3	781	c.567C>T	c.(565-567)TCC>TCT	p.S189S	CEP68_uc002sdj.2_Silent_p.S189S|CEP68_uc010yqb.1_Silent_p.S189S|CEP68_uc002sdk.3_Silent_p.S189S|CEP68_uc010yqc.1_Silent_p.S189S|CEP68_uc010yqd.1_Silent_p.S189S	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	189					centrosome organization	centrosome				skin(1)	1																		---	---	---	---
ACTR2	10097	broad.mit.edu	37	2	65478244	65478244	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:65478244C>T	uc002sdq.2	+						ACTR2_uc010yqf.1_Intron|ACTR2_uc002sdp.2_Intron|ACTR2_uc010yqg.1_Intron	NM_005722	NP_005713			actin-related protein 2 isoform b						cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding				0																		---	---	---	---
SPRED2	200734	broad.mit.edu	37	2	65541135	65541135	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:65541135G>A	uc002sdr.3	-	6	1292	c.757C>T	c.(757-759)CGC>TGC	p.R253C	SPRED2_uc010fcw.2_Missense_Mutation_p.R250C	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	253	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---
ADD2	119	broad.mit.edu	37	2	70900460	70900460	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70900460T>C	uc002sgz.2	-						ADD2_uc010fds.1_Intron|ADD2_uc002sgy.2_Splice_Site_p.E581_splice|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Splice_Site_p.E581_splice	NM_001617	NP_001608			adducin 2 isoform a						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3																		---	---	---	---
CLEC4F	165530	broad.mit.edu	37	2	71043195	71043195	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71043195G>A	uc002shf.2	-	4	1395	c.1318C>T	c.(1318-1320)CAG>TAG	p.Q440*	CLEC4F_uc010yqv.1_Nonsense_Mutation_p.Q440*	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	440	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73676827	73676827	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73676827T>C	uc002sje.1	+	10	3287	c.3176T>C	c.(3175-3177)GTT>GCT	p.V1059A	ALMS1_uc002sjf.1_Missense_Mutation_p.V1015A|ALMS1_uc002sjg.2_Missense_Mutation_p.V445A|ALMS1_uc002sjh.1_Missense_Mutation_p.V445A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1057	34 X 47 AA approximate tandem repeat.|11.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73680921	73680921	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73680921A>C	uc002sje.1	+	10	7381	c.7270A>C	c.(7270-7272)AAT>CAT	p.N2424H	ALMS1_uc002sjf.1_Missense_Mutation_p.N2380H|ALMS1_uc002sjg.2_Missense_Mutation_p.N1810H|ALMS1_uc002sjh.1_Missense_Mutation_p.N1810H	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2422					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74042785	74042785	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74042785G>A	uc002sjr.1	+	3	1556	c.1435G>A	c.(1435-1437)GCC>ACC	p.A479T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	479										ovary(2)	2																		---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74596483	74596483	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74596483C>T	uc002skx.2	-	14	1839	c.1528G>A	c.(1528-1530)GTT>ATT	p.V510I	DCTN1_uc002skv.2_Missense_Mutation_p.V376I|DCTN1_uc002sku.2_Missense_Mutation_p.V376I|DCTN1_uc002skw.1_Missense_Mutation_p.V486I|DCTN1_uc010ffd.2_Missense_Mutation_p.V490I|DCTN1_uc002sky.2_Missense_Mutation_p.V473I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	510	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5																		---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80085186	80085186	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80085186T>A	uc010ysh.1	+	3	351	c.346T>A	c.(346-348)TCG>ACG	p.S116T	CTNNA2_uc010yse.1_Missense_Mutation_p.S116T|CTNNA2_uc010ysf.1_Missense_Mutation_p.S116T|CTNNA2_uc010ysg.1_Missense_Mutation_p.S116T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	116					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80085188	80085188	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80085188G>A	uc010ysh.1	+	3	353	c.348G>A	c.(346-348)TCG>TCA	p.S116S	CTNNA2_uc010yse.1_Silent_p.S116S|CTNNA2_uc010ysf.1_Silent_p.S116S|CTNNA2_uc010ysg.1_Silent_p.S116S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	116					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530111	80530111	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530111G>T	uc002sok.1	-	2	1104	c.834C>A	c.(832-834)ACC>ACA	p.T278T	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	278	LRR 8.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---
C2orf89	129293	broad.mit.edu	37	2	85051153	85051153	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85051153G>A	uc010ysl.1	-	6	1347	c.1258C>T	c.(1258-1260)CGG>TGG	p.R420W	C2orf89_uc002sou.3_Missense_Mutation_p.R371W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	420	Extracellular (Potential).					integral to membrane				ovary(1)	1																		---	---	---	---
ELMOD3	84173	broad.mit.edu	37	2	85598687	85598687	+	Splice_Site	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85598687T>C	uc002spf.3	+	11	1272	c.607_splice	c.e11+2	p.G203_splice	ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spg.3_Splice_Site_p.G203_splice|ELMOD3_uc002sph.3_Splice_Site_p.G203_splice|ELMOD3_uc010ysn.1_Splice_Site_p.G203_splice|ELMOD3_uc010yso.1_Splice_Site|ELMOD3_uc010ysp.1_Intron	NM_001135021	NP_001128493			ELMO/CED-12 domain containing 3 isoform b						phagocytosis	cytoskeleton				ovary(2)	2																		---	---	---	---
SFTPB	6439	broad.mit.edu	37	2	85893744	85893744	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85893744T>C	uc002sqh.2	-	4	395	c.389A>G	c.(388-390)CAG>CGG	p.Q130R	SFTPB_uc002sqi.2_Missense_Mutation_p.Q142R|SFTPB_uc002sqj.2_Missense_Mutation_p.Q130R	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	130	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86354439	86354439	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86354439G>A	uc002sqw.2	+						PTCD3_uc002sqx.1_Intron	NM_017952	NP_060422			pentatricopeptide repeat domain 3 precursor							mitochondrion	protein binding			ovary(1)	1																		---	---	---	---
MRPL35	51318	broad.mit.edu	37	2	86437712	86437712	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86437712C>T	uc002srg.3	+	4	546	c.488C>T	c.(487-489)ACG>ATG	p.T163M	MRPL35_uc002srf.3_Missense_Mutation_p.T163M	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	163					translation	mitochondrial ribosome	structural constituent of ribosome				0																		---	---	---	---
KCNIP3	30818	broad.mit.edu	37	2	96040058	96040058	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96040058G>A	uc002sup.2	+	3	311	c.196G>A	c.(196-198)GAG>AAG	p.E66K	KCNIP3_uc002suq.2_Missense_Mutation_p.E40K	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3 isoform 1	66					apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			breast(2)|ovary(1)	3				READ - Rectum adenocarcinoma(193;0.13)														---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919660	96919660	+	Silent	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96919660T>G	uc002svq.2	-	4	860	c.603A>C	c.(601-603)ACA>ACC	p.T201T	TMEM127_uc002svr.2_Silent_p.T201T	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	201					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0														Pheochromocytoma_(Adrenal)_Familial				---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96943411	96943411	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96943411T>C	uc002svu.2	-	41	5883	c.5797A>G	c.(5797-5799)AAT>GAT	p.N1933D	SNRNP200_uc002svt.2_Missense_Mutation_p.N543D|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1933	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10																		---	---	---	---
CNNM4	26504	broad.mit.edu	37	2	97463265	97463265	+	Missense_Mutation	SNP	G	A	A	rs148365594		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97463265G>A	uc002swx.2	+	3	1660	c.1562G>A	c.(1561-1563)CGG>CAG	p.R521Q	CNNM4_uc010yuy.1_Missense_Mutation_p.R8Q|hsa-mir-3127|MI0014144_5'Flank	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	521					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3																		---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98340772	98340772	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98340772C>T	uc002syd.1	+	3	480	c.273C>T	c.(271-273)CCC>CCT	p.P91P	ZAP70_uc010yvf.1_Silent_p.P91P|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	91	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6																		---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98350977	98350977	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98350977G>A	uc002syd.1	+						ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Intron|ZAP70_uc002syf.1_5'UTR	NM_001079	NP_001070			zeta-chain associated protein kinase 70kDa						immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6																		---	---	---	---
RNF149	284996	broad.mit.edu	37	2	101910512	101910512	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101910512G>A	uc002taz.1	-	3	846	c.744C>T	c.(742-744)GGC>GGT	p.G248G	RNF149_uc002tax.1_RNA	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	ring finger protein 149 precursor	248						integral to membrane	ligase activity|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103040601	103040601	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103040601A>G	uc002tbx.2	+						IL18RAP_uc010fiz.2_Intron	NM_003853	NP_003844			interleukin 18 receptor accessory protein						cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5																		---	---	---	---
NCK2	8440	broad.mit.edu	37	2	106497880	106497880	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106497880G>A	uc002tdg.2	+	4	765	c.323G>A	c.(322-324)CGC>CAC	p.R108H	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.R108H	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	108					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2																		---	---	---	---
SH3RF3	344558	broad.mit.edu	37	2	109964227	109964227	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109964227G>A	uc010ywt.1	+	2	671	c.671G>A	c.(670-672)CGG>CAG	p.R224Q		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	224	SH3 1.						zinc ion binding			ovary(1)	1																		---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112608477	112608477	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:112608477A>G	uc002thi.2	-	14	1773	c.1526T>C	c.(1525-1527)GTT>GCT	p.V509A		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	509					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2																		---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112614266	112614266	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:112614266C>A	uc002thi.2	-							NM_022662	NP_073153			anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113089479	113089479	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113089479C>T	uc002thq.1	+	12	3378	c.2984C>T	c.(2983-2985)GCC>GTC	p.A995V		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	995							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113305151	113305151	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113305151A>G	uc002thw.2	+						POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_Intron|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Intron|POLR1B_uc002thy.2_Intron|POLR1B_uc010yxo.1_Intron	NM_019014	NP_061887			RNA polymerase I polypeptide B isoform 1						termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1																		---	---	---	---
CKAP2L	150468	broad.mit.edu	37	2	113520087	113520087	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113520087T>A	uc002tie.2	-	2	176	c.97A>T	c.(97-99)AAC>TAC	p.N33Y	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	33						centrosome					0																		---	---	---	---
IL1B	3553	broad.mit.edu	37	2	113591162	113591162	+	Intron	SNP	G	C	C	rs3917359	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113591162G>C	uc002tii.1	-						IL1B_uc002tih.1_Intron	NM_000576	NP_000567			interleukin 1, beta proprotein						activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)													---	---	---	---
TFCP2L1	29842	broad.mit.edu	37	2	121997154	121997154	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121997154G>A	uc002tmx.2	-	8	933	c.840C>T	c.(838-840)AAC>AAT	p.N280N	TFCP2L1_uc010flr.2_Silent_p.N280N	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	280					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)																	---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122286272	122286272	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:122286272T>C	uc002tnc.2	-	4	749	c.359A>G	c.(358-360)GAT>GGT	p.D120G	CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.D120G|CLASP1_uc010yza.1_Missense_Mutation_p.D120G|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Missense_Mutation_p.D120G|RNU4ATAC_uc010yzd.1_5'Flank	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	120	HEAT 1.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)																	---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128249666	128249666	+	Splice_Site	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128249666T>C	uc002ton.2	-	10	2233	c.1930_splice	c.e10-1	p.L644_splice	IWS1_uc010yzl.1_Intron	NM_017969	NP_060439			IWS1 homolog						transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)														---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128250886	128250886	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128250886G>A	uc002ton.2	-	9	2203	c.1900C>T	c.(1900-1902)CGG>TGG	p.R634W	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	634	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)														---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130832415	130832415	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130832415C>T	uc010fmh.2	-	17	3030	c.2630G>A	c.(2629-2631)CGC>CAC	p.R877H		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	877	Actin-like.					cell cortex	ATP binding			skin(3)|ovary(2)	5																		---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021658	132021658	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:132021658G>A	uc002tsn.2	+	15	2682	c.2630G>A	c.(2629-2631)CGC>CAC	p.R877H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R477H|POTEE_uc002tsl.2_Missense_Mutation_p.R459H|POTEE_uc010fmy.1_Missense_Mutation_p.R341H	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	877	Actin-like.						ATP binding				0																		---	---	---	---
FAM128A	653784	broad.mit.edu	37	2	132241708	132241708	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:132241708G>A	uc002tsw.3	-	3	518	c.403C>T	c.(403-405)CCA>TCA	p.P135S	FAM128A_uc002tsv.3_RNA	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN	hypothetical protein LOC653784	135						centrosome|gamma-tubulin ring complex|spindle					0				BRCA - Breast invasive adenocarcinoma(221;0.13)														---	---	---	---
GPR39	2863	broad.mit.edu	37	2	133174929	133174929	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133174929C>A	uc002ttl.2	+	1	783	c.314C>A	c.(313-315)ACC>AAC	p.T105N		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	105	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0																		---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133540971	133540971	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133540971T>C	uc002ttp.2	-	14	3787	c.3413A>G	c.(3412-3414)CAT>CGT	p.H1138R	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1138							protein binding				0																		---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149806952	149806952	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149806952A>G	uc010zbu.1	+	10	1312	c.944A>G	c.(943-945)AAG>AGG	p.K315R	KIF5C_uc002tws.1_RNA	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	315	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)														---	---	---	---
CACNB4	785	broad.mit.edu	37	2	152695721	152695721	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152695721T>C	uc002tya.2	-	14	1543	c.1475A>G	c.(1474-1476)TAC>TGC	p.Y492C	CACNB4_uc002txy.2_Missense_Mutation_p.Y458C|CACNB4_uc002txz.2_Missense_Mutation_p.Y474C|CACNB4_uc010fnz.2_Missense_Mutation_p.Y430C	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	492					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)													---	---	---	---
CACNB4	785	broad.mit.edu	37	2	152737372	152737372	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152737372A>G	uc002tya.2	-	4	400	c.332T>C	c.(331-333)GTG>GCG	p.V111A	CACNB4_uc002txy.2_Missense_Mutation_p.V77A|CACNB4_uc002txz.2_Missense_Mutation_p.V93A|CACNB4_uc010fnz.2_Missense_Mutation_p.V111A|CACNB4_uc002tyb.2_Missense_Mutation_p.V77A	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	111					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)													---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155555962	155555962	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:155555962C>T	uc002tyv.1	+	1	870	c.675C>T	c.(673-675)TCC>TCT	p.S225S	KCNJ3_uc010zce.1_Silent_p.S225S	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	225	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)													---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160087129	160087129	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160087129C>T	uc002uag.2	+	27	5466	c.5192C>T	c.(5191-5193)GCG>GTG	p.A1731V	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.A575V	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1731						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162274319	162274319	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162274319C>T	uc002ubw.1	+	2	1127	c.825C>T	c.(823-825)GGC>GGT	p.G275G	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	275	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G275C(1)		ovary(1)|central_nervous_system(1)	2																		---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170044552	170044552	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170044552G>A	uc002ues.2	-	49	9469	c.9256C>T	c.(9256-9258)CGC>TGC	p.R3086C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3086	Extracellular (Potential).|LDL-receptor class A 25.				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)													---	---	---	---
UBR3	130507	broad.mit.edu	37	2	170806462	170806462	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170806462G>A	uc010zdi.1	+	23	3432	c.3432G>A	c.(3430-3432)TCG>TCA	p.S1144S	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_5'UTR|UBR3_uc002uft.3_5'UTR	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1144					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173686690	173686690	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:173686690C>T	uc002uhv.3	+						RAPGEF4_uc002uhu.2_Intron|RAPGEF4_uc002uhw.3_Translation_Start_Site	NM_007023	NP_008954			Rap guanine nucleotide exchange factor (GEF) 4						blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)															---	---	---	---
WIPF1	7456	broad.mit.edu	37	2	175432803	175432803	+	Splice_Site	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175432803T>C	uc002uiy.2	-	7	1462	c.1130_splice	c.e7-1	p.G377_splice	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Splice_Site_p.G377_splice|WIPF1_uc010fqt.1_Splice_Site_p.G377_splice|WIPF1_uc002uiz.2_Splice_Site_p.G377_splice|WIPF1_uc002ujb.1_Splice_Site_p.G377_splice	NM_003387	NP_003378			WAS/WASL interacting protein family, member 1						actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2																		---	---	---	---
HOXD9	3235	broad.mit.edu	37	2	176987564	176987564	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176987564A>G	uc010zex.1	+	1	152	c.68A>G	c.(67-69)GAC>GGC	p.D23G		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	23						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)														---	---	---	---
TTN	7273	broad.mit.edu	37	2	179422756	179422756	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179422756T>C	uc010zfg.1	-	277	79845	c.79621A>G	c.(79621-79623)ACA>GCA	p.T26541A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T20236A|TTN_uc010zfi.1_Missense_Mutation_p.T20169A|TTN_uc010zfj.1_Missense_Mutation_p.T20044A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27468							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179474066	179474066	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179474066A>G	uc010zfg.1	-	222	44491	c.44267T>C	c.(44266-44268)ATT>ACT	p.I14756T	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I8451T|TTN_uc010zfi.1_Missense_Mutation_p.I8384T|TTN_uc010zfj.1_Missense_Mutation_p.I8259T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15683							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179474465	179474465	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179474465C>A	uc010zfg.1	-	221	44205	c.43981G>T	c.(43981-43983)GGT>TGT	p.G14661C	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G8356C|TTN_uc010zfi.1_Missense_Mutation_p.G8289C|TTN_uc010zfj.1_Missense_Mutation_p.G8164C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15588							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179484758	179484758	+	Silent	SNP	G	A	A	rs147703145	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179484758G>A	uc010zfg.1	-	198	38906	c.38682C>T	c.(38680-38682)TGC>TGT	p.C12894C	TTN_uc010zfh.1_Silent_p.C6589C|TTN_uc010zfi.1_Silent_p.C6522C|TTN_uc010zfj.1_Silent_p.C6397C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13821							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179498235	179498235	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179498235C>T	uc010zfg.1	-	181	35371	c.35147G>A	c.(35146-35148)CGC>CAC	p.R11716H	TTN_uc010zfh.1_Missense_Mutation_p.R5411H|TTN_uc010zfi.1_Missense_Mutation_p.R5344H|TTN_uc010zfj.1_Missense_Mutation_p.R5219H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12643							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179640257	179640257	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179640257A>G	uc010zfg.1	-	28	6558	c.6334T>C	c.(6334-6336)TAC>CAC	p.Y2112H	TTN_uc010zfh.1_Missense_Mutation_p.Y2066H|TTN_uc010zfi.1_Missense_Mutation_p.Y2066H|TTN_uc010zfj.1_Missense_Mutation_p.Y2066H|TTN_uc002unb.2_Missense_Mutation_p.Y2112H|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2112							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
ZNF385B	151126	broad.mit.edu	37	2	180309623	180309623	+	Missense_Mutation	SNP	G	A	A	rs149254466	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180309623G>A	uc002unn.3	-	9	1781	c.1177C>T	c.(1177-1179)CGG>TGG	p.R393W	ZNF385B_uc002unj.2_Missense_Mutation_p.R291W|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.R290W|ZNF385B_uc002unm.2_Missense_Mutation_p.R317W	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	393						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)															---	---	---	---
NUP35	129401	broad.mit.edu	37	2	184023042	184023042	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:184023042G>A	uc002upf.2	+	7	744	c.641G>A	c.(640-642)CGT>CAT	p.R214H	NUP35_uc010zfs.1_Missense_Mutation_p.R196H|NUP35_uc010zft.1_Missense_Mutation_p.R96H|NUP35_uc002upg.2_RNA	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	214	RRM Nup35-type.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane					0																		---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187541575	187541575	+	Silent	SNP	G	A	A	rs140775791	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187541575G>A	uc002upq.2	+	29	3240	c.2964G>A	c.(2962-2964)GCG>GCA	p.A988A	ITGAV_uc010frs.2_Silent_p.A952A|ITGAV_uc010zfv.1_Silent_p.A942A	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	988	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)														---	---	---	---
TFPI	7035	broad.mit.edu	37	2	188348879	188348879	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:188348879C>T	uc002upx.2	-	6	633	c.600G>A	c.(598-600)CCG>CCA	p.P200P	TFPI_uc002upy.2_Silent_p.P200P|TFPI_uc002upz.2_Silent_p.P196P|TFPI_uc002uqa.2_Silent_p.P200P|TFPI_uc002uqb.2_Silent_p.P200P	NM_006287	NP_006278	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor isoform a	200					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)													---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189863447	189863447	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189863447A>G	uc002uqj.1	+							NM_000090	NP_000081			collagen type III alpha 1 preproprotein						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)													---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189907474	189907474	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189907474G>T	uc002uqk.2	-	49	3772	c.3497C>A	c.(3496-3498)GCT>GAT	p.A1166D	COL5A2_uc010frx.2_Missense_Mutation_p.A742D	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1166					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)															---	---	---	---
OSGEPL1	64172	broad.mit.edu	37	2	190617701	190617701	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190617701G>A	uc002uqz.1	-	6	1502	c.968C>T	c.(967-969)GCA>GTA	p.A323V	OSGEPL1_uc002ura.1_RNA	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	323					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)															---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191898219	191898219	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191898219T>A	uc002usm.1	-	20	2103	c.1849A>T	c.(1849-1851)AGT>TGT	p.S617C	STAT4_uc002usn.1_Missense_Mutation_p.S617C|STAT4_uc010zgk.1_Missense_Mutation_p.S462C|STAT4_uc002uso.2_Missense_Mutation_p.S617C	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	617	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)															---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192228478	192228478	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192228478A>G	uc010fsg.2	+	10	1045	c.790A>G	c.(790-792)ATG>GTG	p.M264V	MYO1B_uc002usq.2_Missense_Mutation_p.M264V|MYO1B_uc002usr.2_Missense_Mutation_p.M264V|MYO1B_uc002uss.1_Missense_Mutation_p.M264V	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	264	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)															---	---	---	---
TMEFF2	23671	broad.mit.edu	37	2	193049142	193049142	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:193049142C>T	uc002utc.2	-	3	744	c.350G>A	c.(349-351)CGA>CAA	p.R117Q	TMEFF2_uc002utd.1_Missense_Mutation_p.R117Q	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	117	Kazal-like 1.|Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)															---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196605585	196605585	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196605585T>C	uc002utj.3	-	64	11874	c.11773A>G	c.(11773-11775)ATT>GTT	p.I3925V	DNAH7_uc002uti.3_Missense_Mutation_p.I408V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3925					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197189697	197189697	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197189697A>G	uc002utm.1	-						HECW2_uc002utl.1_Intron	NM_020760	NP_065811			HECT, C2 and WW domain containing E3 ubiquitin						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18																		---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200173523	200173523	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:200173523C>T	uc002uuy.1	-	10	2517	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H	SATB2_uc010fsq.1_Missense_Mutation_p.R449H|SATB2_uc002uuz.1_Missense_Mutation_p.R567H|SATB2_uc002uva.1_Missense_Mutation_p.R567H	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	567						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
C2orf60	129450	broad.mit.edu	37	2	200813094	200813094	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:200813094A>G	uc002uvi.3	-	2	446	c.180T>C	c.(178-180)ATT>ATC	p.I60I	C2orf60_uc002uvj.3_5'UTR|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Intron|C2orf60_uc002uvl.2_Silent_p.I60I	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	60					wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0																		---	---	---	---
CASP10	843	broad.mit.edu	37	2	202070608	202070608	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202070608A>C	uc002uxl.1	+	7	1143	c.725A>C	c.(724-726)AAC>ACC	p.N242T	CASP10_uc010zhn.1_Intron|CASP10_uc002uxj.1_Missense_Mutation_p.N242T|CASP10_uc002uxk.1_Intron|CASP10_uc010fta.1_Intron|CASP10_uc002uxm.1_Intron|CASP10_uc010ftb.1_Intron	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	242					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6																		---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206587232	206587232	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206587232G>A	uc002vaw.2	+	4	1255	c.464G>A	c.(463-465)AGC>AAC	p.S155N	NRP2_uc002vat.2_Missense_Mutation_p.S155N|NRP2_uc002vau.2_Missense_Mutation_p.S155N|NRP2_uc002vav.2_Missense_Mutation_p.S155N|NRP2_uc002vax.2_Missense_Mutation_p.S155N|NRP2_uc002vay.2_Missense_Mutation_p.S155N|NRP2_uc010fud.2_Missense_Mutation_p.S155N	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	155	Extracellular (Potential).|CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
INO80D	54891	broad.mit.edu	37	2	206874404	206874404	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206874404G>A	uc002vaz.3	-	9	2062	c.1657C>T	c.(1657-1659)CGT>TGT	p.R553C		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	553					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1																		---	---	---	---
INO80D	54891	broad.mit.edu	37	2	206884472	206884472	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206884472G>A	uc002vaz.3	-	7	1801	c.1396C>T	c.(1396-1398)CAT>TAT	p.H466Y		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	466					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1																		---	---	---	---
FASTKD2	22868	broad.mit.edu	37	2	207636937	207636937	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207636937A>T	uc002vbu.2	+	6	1557	c.1147A>T	c.(1147-1149)ATC>TTC	p.I383F	FASTKD2_uc002vbv.2_Missense_Mutation_p.I383F|FASTKD2_uc002vbx.2_Missense_Mutation_p.I383F|FASTKD2_uc002vbw.1_Missense_Mutation_p.I383F	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	383					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|skin(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)														---	---	---	---
CCNYL1	151195	broad.mit.edu	37	2	208602124	208602124	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208602124T>C	uc002vci.2	+						CCNYL1_uc002vch.2_Intron	NM_001142300	NP_001135772			cyclin Y-like 1 isoform 1						regulation of cyclin-dependent protein kinase activity		protein kinase binding				0				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)														---	---	---	---
CRYGD	1421	broad.mit.edu	37	2	208988911	208988911	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208988911G>A	uc002vcn.3	-	2	293	c.177C>T	c.(175-177)CGC>CGT	p.R59R		NM_006891	NP_008822	P07320	CRGD_HUMAN	crystallin, gamma D	59	Beta/gamma crystallin 'Greek key' 2.		R -> H (in CACA; lowered solubility; crystallizes easily).		cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)														---	---	---	---
FN1	2335	broad.mit.edu	37	2	216274341	216274341	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216274341C>T	uc002vfa.2	-	15	2510	c.2244G>A	c.(2242-2244)TCG>TCA	p.S748S	FN1_uc002vfb.2_Silent_p.S748S|FN1_uc002vfc.2_Silent_p.S748S|FN1_uc002vfd.2_Silent_p.S748S|FN1_uc002vfe.2_Silent_p.S748S|FN1_uc002vff.2_Silent_p.S748S|FN1_uc002vfg.2_Silent_p.S748S|FN1_uc002vfh.2_Silent_p.S748S|FN1_uc002vfi.2_Silent_p.S748S|FN1_uc002vfj.2_Silent_p.S748S	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	748	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
MREG	55686	broad.mit.edu	37	2	216809644	216809644	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216809644A>G	uc002vfo.2	-	5	883	c.587T>C	c.(586-588)GTT>GCT	p.V196A	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	196						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)														---	---	---	---
RPL37A	6168	broad.mit.edu	37	2	217366124	217366124	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:217366124G>A	uc002vgf.2	+	4	354	c.276G>A	c.(274-276)CAG>CAA	p.Q92Q	RPL37A_uc002vgg.2_3'UTR	NM_000998	NP_000989	P61513	RL37A_HUMAN	ribosomal protein L37a	92					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			ovary(1)	1		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218686571	218686571	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218686571G>T	uc002vgt.2	-	23	3550	c.3152C>A	c.(3151-3153)GCC>GAC	p.A1051D	TNS1_uc002vgr.2_Missense_Mutation_p.A1038D|TNS1_uc002vgs.2_Missense_Mutation_p.A1030D|TNS1_uc010zjv.1_Missense_Mutation_p.A1030D	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1051						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)														---	---	---	---
AAMP	14	broad.mit.edu	37	2	219131233	219131233	+	Silent	SNP	C	T	T	rs140610263		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219131233C>T	uc002vhk.2	-	5	696	c.612G>A	c.(610-612)CCG>CCA	p.P204P	AAMP_uc002vhj.2_Silent_p.P185P|AAMP_uc010fvo.2_Silent_p.P204P|AAMP_uc002vhl.2_Silent_p.P205P	NM_001087	NP_001078	Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	204	WD 3.				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
USP37	57695	broad.mit.edu	37	2	219328021	219328021	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219328021C>A	uc002vie.2	-						USP37_uc010fvs.1_Intron|USP37_uc010zkf.1_Intron|USP37_uc002vif.2_Intron|USP37_uc002vig.2_Intron	NM_020935	NP_065986			ubiquitin specific peptidase 37						ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)														---	---	---	---
FEV	54738	broad.mit.edu	37	2	219846723	219846723	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219846723A>G	uc002vji.1	-	3	965	c.383T>C	c.(382-384)TTC>TCC	p.F128S		NM_017521	NP_059991	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	128					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(10)|FUS/FEV(2)	bone(10)|soft_tissue(2)	12		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)				T	EWSR1| FUS	Ewing sarcoma								---	---	---	---
ATG9A	79065	broad.mit.edu	37	2	220085516	220085516	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220085516C>T	uc002vke.1	-	15	2653	c.2467G>A	c.(2467-2469)GTG>ATG	p.V823M	ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.V823M	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	823	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220342646	220342646	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220342646C>T	uc010fwg.2	+	22	4846	c.4846C>T	c.(4846-4848)CGG>TGG	p.R1616W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1616	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---
ACCN4	55515	broad.mit.edu	37	2	220402406	220402406	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220402406G>A	uc002vma.2	+	8	1792	c.1778G>A	c.(1777-1779)CGG>CAG	p.R593Q	ACCN4_uc002vlz.2_Missense_Mutation_p.R612Q|ACCN4_uc002vmb.2_3'UTR	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	593	Cytoplasmic (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)														---	---	---	---
OBSL1	23363	broad.mit.edu	37	2	220418400	220418400	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220418400C>A	uc010fwk.2	-	16	4942	c.4885G>T	c.(4885-4887)GTG>TTG	p.V1629L		NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1629	Ig-like 13.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)												OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
WDFY1	57590	broad.mit.edu	37	2	224746715	224746715	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224746715G>A	uc002vnq.2	-	10	1059	c.1008C>T	c.(1006-1008)GGC>GGT	p.G336G		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	336	FYVE-type.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225666646	225666646	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225666646G>A	uc010fwz.1	-	40	4619	c.4380C>T	c.(4378-4380)GAC>GAT	p.D1460D	DOCK10_uc002vob.2_Silent_p.D1454D|DOCK10_uc002voa.2_Silent_p.D116D|DOCK10_uc002voc.2_Silent_p.D314D	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1460							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)														---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227663330	227663330	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227663330G>A	uc002voh.3	-	1	177	c.125C>T	c.(124-126)GCG>GTG	p.A42V		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	42	PH.|Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)														---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230659886	230659886	+	Intron	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230659886G>T	uc002vpw.1	-						TRIP12_uc002vpx.1_Intron|TRIP12_uc002vpy.1_Intron	NM_004238	NP_004229			thyroid hormone receptor interactor 12						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)														---	---	---	---
HTR2B	3357	broad.mit.edu	37	2	231973769	231973769	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231973769C>T	uc002vro.2	-	4	1413	c.908G>A	c.(907-909)CGA>CAA	p.R303Q	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.R236Q	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	303	Cytoplasmic (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)													---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233834974	233834974	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233834974C>T	uc002vts.2	-	3	581	c.333G>A	c.(331-333)ATG>ATA	p.M111I		NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	111	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)														---	---	---	---
UGT1A6	54578	broad.mit.edu	37	2	234602124	234602124	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234602124C>T	uc002vuv.3	+	1	613	c.474C>T	c.(472-474)ATC>ATT	p.I158I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Silent_p.I158I	NM_001072	NP_001063	P19224	UD16_HUMAN	UDP glycosyltransferase 1 family, polypeptide A6	158					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)														---	---	---	---
RBM44	375316	broad.mit.edu	37	2	238728937	238728937	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238728937G>A	uc002vxi.3	+	5	1991	c.1859G>A	c.(1858-1860)CGT>CAT	p.R620H		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	619							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)														---	---	---	---
ESPNL	339768	broad.mit.edu	37	2	239038938	239038938	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239038938G>A	uc002vxq.3	+	9	1693	c.1583G>A	c.(1582-1584)AGT>AAT	p.S528N	ESPNL_uc010fyw.2_Missense_Mutation_p.S224N	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	528	Potential.									pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)														---	---	---	---
AGXT	189	broad.mit.edu	37	2	241810850	241810850	+	Missense_Mutation	SNP	G	A	A	rs121908529	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241810850G>A	uc002waa.3	+	4	629	c.508G>A	c.(508-510)GGG>AGG	p.G170R	AGXT_uc010zoi.1_Missense_Mutation_p.G170R	NM_000030	NP_000021	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	170			G -> R (in HP1; causes mistargeting when associated with L-11).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity				0		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)													---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242169295	242169295	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242169295C>A	uc002waz.2	-	27	3901	c.3673G>T	c.(3673-3675)GGC>TGC	p.G1225C	HDLBP_uc002wba.2_Missense_Mutation_p.G1225C|HDLBP_uc002wbb.2_Missense_Mutation_p.G1177C	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1225					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4810193	4810193	+	Splice_Site	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4810193A>T	uc003bqa.2	+	43	5930	c.5582_splice	c.e43-2	p.A1861_splice	ITPR1_uc010hca.1_Splice_Site_p.A1846_splice|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Splice_Site_p.A831_splice	NM_001099952	NP_001093422			inositol 1,4,5-triphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9780731	9780731	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9780731C>T	uc003bse.2	+	3	1047	c.648C>T	c.(646-648)GAC>GAT	p.D216D	BRPF1_uc003bsf.2_Silent_p.D216D|BRPF1_uc003bsg.2_Silent_p.D216D|BRPF1_uc011ati.1_Silent_p.D216D	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	216	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)																	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10387766	10387766	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10387766G>A	uc003bvt.2	-	17	2899	c.2460C>T	c.(2458-2460)GAC>GAT	p.D820D	ATP2B2_uc003bvv.2_Silent_p.D775D|ATP2B2_uc003bvw.2_Silent_p.D775D|ATP2B2_uc010hdo.2_Silent_p.D525D	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	820	Cytoplasmic (Potential).	Magnesium (By similarity).			ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
HRH1	3269	broad.mit.edu	37	3	11301400	11301400	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11301400T>G	uc010hdr.2	+	2	1019	c.677T>G	c.(676-678)CTC>CGC	p.L226R	HRH1_uc010hds.2_Missense_Mutation_p.L226R|HRH1_uc010hdt.2_Missense_Mutation_p.L226R|HRH1_uc003bwb.3_Missense_Mutation_p.L226R	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	226	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)													---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11382179	11382179	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11382179T>C	uc003bwc.2	+	10	1067	c.950T>C	c.(949-951)GTG>GCG	p.V317A	ATG7_uc003bwd.2_Missense_Mutation_p.V317A|ATG7_uc011aum.1_Missense_Mutation_p.V278A	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	317					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1																		---	---	---	---
RAF1	5894	broad.mit.edu	37	3	12660191	12660191	+	Silent	SNP	C	T	T	rs140806518	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12660191C>T	uc003bxf.3	-	2	445	c.30G>A	c.(28-30)ACG>ACA	p.T10T	RAF1_uc011auu.1_5'UTR	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	10					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				---	---	---	---
IQSEC1	9922	broad.mit.edu	37	3	12977583	12977583	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12977583C>T	uc003bxt.2	-	3	984	c.975G>A	c.(973-975)CCG>CCA	p.P325P	IQSEC1_uc003bxu.3_Silent_p.P203P|IQSEC1_uc011auw.1_Silent_p.P311P	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	325					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---
SLC6A6	6533	broad.mit.edu	37	3	14513829	14513829	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14513829C>T	uc010heg.2	+						SLC6A6_uc003byq.2_Intron|SLC6A6_uc003byr.2_Intron	NM_001134367	NP_001127839			solute carrier family 6 (neurotransmitter						cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1																		---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14564529	14564529	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14564529G>A	uc011avi.1	-	7	835	c.835C>T	c.(835-837)CGG>TGG	p.R279W	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	182	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1																		---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14564548	14564548	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14564548C>T	uc011avi.1	-	7	816	c.816G>A	c.(814-816)CCG>CCA	p.P272P	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	175	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1																		---	---	---	---
C3orf20	84077	broad.mit.edu	37	3	14769959	14769959	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14769959T>C	uc003byy.2	+	12	2108	c.1704T>C	c.(1702-1704)ATT>ATC	p.I568I	C3orf20_uc003byz.2_Silent_p.I446I|C3orf20_uc003bza.2_Silent_p.I446I|C3orf20_uc003bzb.1_Silent_p.I69I	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	568						cytoplasm|integral to membrane				ovary(3)|skin(1)	4																		---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14863039	14863039	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14863039G>A	uc003bzc.2	+	1	2571	c.2461G>A	c.(2461-2463)GTG>ATG	p.V821M	FGD5_uc011avk.1_Missense_Mutation_p.V821M	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	821					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
RFTN1	23180	broad.mit.edu	37	3	16358486	16358486	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16358486A>G	uc003cay.2	-	10	1868	c.1586T>C	c.(1585-1587)GTG>GCG	p.V529A	RFTN1_uc010hes.2_Missense_Mutation_p.V493A|OXNAD1_uc003cax.2_Intron|OXNAD1_uc011awb.1_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	529						plasma membrane				ovary(3)|central_nervous_system(1)	4																		---	---	---	---
RFTN1	23180	broad.mit.edu	37	3	16419565	16419565	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16419565T>C	uc003cay.2	-	5	768	c.486A>G	c.(484-486)ATA>ATG	p.I162M	RFTN1_uc010hes.2_Missense_Mutation_p.I126M	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	162						plasma membrane				ovary(3)|central_nervous_system(1)	4																		---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17255739	17255739	+	Missense_Mutation	SNP	C	T	T	rs138674365		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:17255739C>T	uc003cbf.2	-	18	3377	c.1712G>A	c.(1711-1713)CGT>CAT	p.R571H	TBC1D5_uc010heu.2_Missense_Mutation_p.R158H|TBC1D5_uc010hev.2_Missense_Mutation_p.R593H|TBC1D5_uc003cbe.2_Missense_Mutation_p.R571H|TBC1D5_uc010hew.1_Missense_Mutation_p.R545H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	571						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
RARB	5915	broad.mit.edu	37	3	25622169	25622169	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25622169G>A	uc011awl.1	+	5	829	c.763G>A	c.(763-765)GCA>ACA	p.A255T	RARB_uc003cdi.1_Missense_Mutation_p.A136T|RARB_uc003cdh.2_Missense_Mutation_p.A248T	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	255	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)													---	---	---	---
STT3B	201595	broad.mit.edu	37	3	31621466	31621466	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:31621466G>A	uc011axe.1	+	3	589	c.589G>A	c.(589-591)GCA>ACA	p.A197T	STT3B_uc010hft.1_Missense_Mutation_p.A197T|STT3B_uc003cer.1_Missense_Mutation_p.A197T	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	197	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0																		---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32932581	32932581	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32932581C>T	uc003cff.2	+	4	1948	c.1885C>T	c.(1885-1887)CGC>TGC	p.R629C		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	629	NHL 1.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37367422	37367422	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37367422T>A	uc003cgv.2	+	14	4349	c.4045T>A	c.(4045-4047)TCT>ACT	p.S1349T	GOLGA4_uc010hgr.1_Missense_Mutation_p.S910T|GOLGA4_uc003cgw.2_Missense_Mutation_p.S1371T|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.S1230T	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1349	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37523078	37523078	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37523078C>T	uc003chd.2	+	4	577	c.524C>T	c.(523-525)ACG>ATG	p.T175M	ITGA9_uc003chc.2_Missense_Mutation_p.T175M	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	175	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)														---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38763811	38763811	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38763811C>T	uc003ciq.2	-	19	3445	c.3445G>A	c.(3445-3447)GTG>ATG	p.V1149M		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1149	III.|Helical; Name=S1 of repeat III; (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)													---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38892065	38892065	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38892065C>A	uc011ays.1	-	25	4433	c.4234G>T	c.(4234-4236)GAA>TAA	p.E1412*	SCN11A_uc003cis.1_Nonsense_Mutation_p.E77*	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1412	IV.|Helical; Name=S2 of repeat IV; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)													---	---	---	---
CCDC13	152206	broad.mit.edu	37	3	42794103	42794103	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42794103C>T	uc003cly.3	-	4	561	c.477G>A	c.(475-477)AAG>AAA	p.K159K	CCDC13_uc003clz.2_Silent_p.K159K|CCDC13_uc011azq.1_Silent_p.K159K	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	159	Potential.									ovary(1)	1																		---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44828026	44828026	+	Missense_Mutation	SNP	C	T	T	rs145837852		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44828026C>T	uc003cnx.3	+	7	748	c.599C>T	c.(598-600)GCG>GTG	p.A200V	KIF15_uc010hiq.2_Missense_Mutation_p.A103V	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	200	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)														---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47890175	47890175	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47890175C>T	uc003cru.2	+	17	3063	c.2637C>T	c.(2635-2637)ACC>ACT	p.T879T	DHX30_uc003crt.2_Silent_p.T840T|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	879						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
CCDC51	79714	broad.mit.edu	37	3	48476334	48476334	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48476334G>A	uc003csz.2	-	2	326	c.205C>T	c.(205-207)CAC>TAC	p.H69Y	CCDC51_uc003cta.2_5'UTR|CCDC51_uc003ctb.2_5'UTR|CCDC51_uc003ctc.2_Missense_Mutation_p.H69Y|CCDC51_uc003ctd.2_5'UTR	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	69						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)														---	---	---	---
ATRIP	84126	broad.mit.edu	37	3	48506346	48506346	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48506346G>A	uc003ctf.1	+	12	2204	c.2172G>A	c.(2170-2172)GTG>GTA	p.V724V	ATRIP_uc011bbj.1_Silent_p.V597V|ATRIP_uc003ctg.1_Silent_p.V697V|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	724					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)									Other_conserved_DNA_damage_response_genes					---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48623373	48623373	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48623373C>A	uc003ctz.2	-	28	3760	c.3759G>T	c.(3757-3759)AAG>AAT	p.K1253N		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1253	Nonhelical region (NC1).				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)														---	---	---	---
IP6K2	51447	broad.mit.edu	37	3	48732686	48732686	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48732686G>A	uc003cup.2	-	2	283	c.39C>T	c.(37-39)CGC>CGT	p.R13R	IP6K2_uc003cuq.2_Silent_p.R13R|IP6K2_uc011bbq.1_Silent_p.R13R|IP6K2_uc011bbr.1_Silent_p.R13R|IP6K2_uc003cur.2_Silent_p.R13R|IP6K2_uc003cus.2_Silent_p.R13R|IP6K2_uc003cut.2_RNA|IP6K2_uc011bbs.1_RNA|IP6K2_uc011bbt.1_Silent_p.R68R|IP6K2_uc003cuv.1_Missense_Mutation_p.R139C|IP6K2_uc011bbu.1_Silent_p.R67R|IP6K2_uc011bbv.1_Silent_p.R71R|IP6K2_uc003cuw.1_Missense_Mutation_p.R138C	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	13					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0																		---	---	---	---
P4HTM	54681	broad.mit.edu	37	3	49042326	49042326	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49042326T>G	uc003cvg.2	+	6	1269	c.920T>G	c.(919-921)ATC>AGC	p.I307S	P4HTM_uc003cvh.2_Missense_Mutation_p.I307S|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	307	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)													---	---	---	---
DALRD3	55152	broad.mit.edu	37	3	49054740	49054740	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49054740A>G	uc003cvk.1	-	5	868	c.848T>C	c.(847-849)GTT>GCT	p.V283A	DALRD3_uc003cvl.1_Missense_Mutation_p.V283A|DALRD3_uc003cvm.1_Missense_Mutation_p.V116A|DALRD3_uc010hko.1_Missense_Mutation_p.V116A|DALRD3_uc011bca.1_Missense_Mutation_p.V283A	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	283					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
USP19	10869	broad.mit.edu	37	3	49147938	49147938	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49147938A>G	uc003cwd.1	-	24	3650	c.3489T>C	c.(3487-3489)GGT>GGC	p.G1163G	USP19_uc003cwa.2_Silent_p.G971G|USP19_uc003cvz.3_Silent_p.G1266G|USP19_uc011bcg.1_Silent_p.G1254G|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.G921G|USP19_uc011bch.1_Silent_p.G1264G	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	1163	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
USP19	10869	broad.mit.edu	37	3	49149374	49149374	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49149374C>T	uc003cwd.1	-	19	2725	c.2564G>A	c.(2563-2565)CGC>CAC	p.R855H	USP19_uc003cwa.2_Missense_Mutation_p.R663H|USP19_uc003cvz.3_Missense_Mutation_p.R958H|USP19_uc011bcg.1_Missense_Mutation_p.R946H|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R613H|USP19_uc011bch.1_Missense_Mutation_p.R956H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	855	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52549531	52549531	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52549531T>C	uc003dej.2	+							NM_015136	NP_055951			stabilin 1 precursor						cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)														---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52551981	52551981	+	Missense_Mutation	SNP	G	A	A	rs150583969	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52551981G>A	uc003dej.2	+	45	4797	c.4723G>A	c.(4723-4725)GTG>ATG	p.V1575M	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1575	Extracellular (Potential).|EGF-like 13.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)														---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52824813	52824813	+	Silent	SNP	C	T	T	rs146607393	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52824813C>T	uc003dfs.2	+	20	2394	c.2370C>T	c.(2368-2370)GAC>GAT	p.D790D	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.D391D|ITIH1_uc010hmo.1_Silent_p.D344D|ITIH1_uc003dfu.2_Silent_p.D156D	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	790	Hyaluronan-binding.				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)														---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53694205	53694205	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53694205C>T	uc003dgv.3	+	5	832	c.669C>T	c.(667-669)GGC>GGT	p.G223G	CACNA1D_uc003dgu.3_Silent_p.G223G|CACNA1D_uc003dgy.3_Silent_p.G223G	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	223	Extracellular (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
LRTM1	57408	broad.mit.edu	37	3	54952711	54952711	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54952711G>A	uc003dhl.2	-	3	947	c.813C>T	c.(811-813)TGC>TGT	p.C271C	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	271	Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)														---	---	---	---
ACOX2	8309	broad.mit.edu	37	3	58519212	58519212	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58519212G>A	uc003dkl.2	-	5	718	c.543C>T	c.(541-543)CAC>CAT	p.H181H		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	181					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)												OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62258734	62258734	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62258734G>A	uc003dlb.2	+	22	4015	c.3296G>A	c.(3295-3297)CGT>CAT	p.R1099H	PTPRG_uc003dlc.2_Missense_Mutation_p.R1070H|PTPRG_uc011bfi.1_Missense_Mutation_p.R345H|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1099	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)														---	---	---	---
PSMD6	9861	broad.mit.edu	37	3	64004505	64004505	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64004505G>T	uc003dma.1	-	4	731	c.706C>A	c.(706-708)CTC>ATC	p.L236I	PSMD6_uc003dlz.1_Missense_Mutation_p.L187I|PSMD6_uc003dmb.1_Missense_Mutation_p.L289I|PSMD6_uc003dmc.1_Missense_Mutation_p.L197I|PSMD6_uc003dmd.1_Missense_Mutation_p.L198I	NM_014814	NP_055629	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit,	236	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|skin(1)	2		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)														---	---	---	---
MITF	4286	broad.mit.edu	37	3	69928397	69928397	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69928397C>T	uc003dnz.2	+	2	333	c.217C>T	c.(217-219)CGC>TGC	p.R73C	MITF_uc011bgb.1_Missense_Mutation_p.R21C|MITF_uc003doa.2_Missense_Mutation_p.R72C|MITF_uc003dob.2_Missense_Mutation_p.R57C|MITF_uc003dod.2_Missense_Mutation_p.R48C|MITF_uc003doc.1_RNA	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	73					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)				A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome						---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71015109	71015109	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:71015109G>A	uc003dol.2	-	16	2144	c.1821C>T	c.(1819-1821)AAC>AAT	p.N607N	FOXP1_uc003dom.2_Silent_p.N531N|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.N606N|FOXP1_uc003dop.2_Silent_p.N607N|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Silent_p.N507N|FOXP1_uc003doj.2_Silent_p.N507N|FOXP1_uc003dok.2_Silent_p.N420N	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	607					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)				T	PAX5	ALL								---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73432878	73432878	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73432878C>T	uc003dpl.1	-	10	2935	c.2839G>A	c.(2839-2841)GCC>ACC	p.A947T	PDZRN3_uc011bgh.1_Missense_Mutation_p.A604T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A645T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A664T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A667T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	947							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)														---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74474011	74474011	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74474011G>A	uc003dpm.1	-	4	519	c.439C>T	c.(439-441)CCA>TCA	p.P147S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	147	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
CADM2	253559	broad.mit.edu	37	3	86028302	86028302	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:86028302T>C	uc003dqj.2	+						CADM2_uc003dqk.2_Intron|CADM2_uc003dql.2_Intron	NM_153184	NP_694854			immunoglobulin superfamily, member 4D						adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89499405	89499405	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89499405G>A	uc003dqy.2	+	15	2800	c.2575G>A	c.(2575-2577)GAC>AAC	p.D859N	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	859	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96706210	96706210	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96706210C>T	uc010how.1	+	3	530	c.487C>T	c.(487-489)CCC>TCC	p.P163S	EPHA6_uc003drp.1_Missense_Mutation_p.P163S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	68	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002130	98002130	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98002130A>G	uc003dsj.1	+	1	399	c.399A>G	c.(397-399)AAA>AAG	p.K133K		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3																		---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100469446	100469446	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100469446T>C	uc003dun.2	-	35	3206	c.3121A>G	c.(3121-3123)AGA>GGA	p.R1041G	ABI3BP_uc003duj.2_Missense_Mutation_p.R621G|ABI3BP_uc003duk.2_Missense_Mutation_p.R750G|ABI3BP_uc003dul.2_Missense_Mutation_p.R871G|ABI3BP_uc011bhd.1_Missense_Mutation_p.R995G|ABI3BP_uc003dum.2_Missense_Mutation_p.R452G	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	1041						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4																		---	---	---	---
RG9MTD1	54931	broad.mit.edu	37	3	101284698	101284698	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101284698G>A	uc003duz.2	+	2	1221	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	358					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1																		---	---	---	---
FAM55C	91775	broad.mit.edu	37	3	101535714	101535714	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101535714C>T	uc003dvn.2	+	7	1635	c.998C>T	c.(997-999)CCC>CTC	p.P333L	FAM55C_uc010hpn.2_Missense_Mutation_p.P333L	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	333						extracellular region				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108776228	108776228	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108776228C>T	uc003dxl.2	-	13	1224	c.1137G>A	c.(1135-1137)ATG>ATA	p.M379I	MORC1_uc011bhn.1_Missense_Mutation_p.M379I	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	379					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8																		---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109049561	109049561	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:109049561T>C	uc003dxq.3	-	5	544	c.489A>G	c.(487-489)ACA>ACG	p.T163T	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Silent_p.T163T	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	163						nucleus	protein binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109050783	109050783	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:109050783T>C	uc003dxq.3	-	3	329	c.274A>G	c.(274-276)AAT>GAT	p.N92D	DPPA4_uc011bho.1_Missense_Mutation_p.N92D|DPPA4_uc011bhp.1_Missense_Mutation_p.N92D	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	92						nucleus	protein binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111693410	111693410	+	Nonstop_Mutation	SNP	G	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111693410G>C	uc010hqa.2	+	18	4173	c.3762G>C	c.(3760-3762)TAG>TAC	p.*1254Y	PHLDB2_uc003dyc.2_Nonstop_Mutation_p.*1238Y|PHLDB2_uc003dyd.2_Nonstop_Mutation_p.*1211Y|PHLDB2_uc003dyg.2_Nonstop_Mutation_p.*1254Y|PHLDB2_uc003dyh.2_Nonstop_Mutation_p.*1211Y|PHLDB2_uc003dyi.2_Nonstop_Mutation_p.*745Y|PHLDB2_uc003dyj.2_Nonstop_Mutation_p.*309Y	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1254						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6																		---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113503111	113503111	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113503111A>C	uc003eao.2	+	4	318	c.252A>C	c.(250-252)AAA>AAC	p.K84N	ATP6V1A_uc011bik.1_Missense_Mutation_p.K51N	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	84					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3																		---	---	---	---
ZDHHC23	254887	broad.mit.edu	37	3	113679587	113679587	+	3'UTR	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113679587T>C	uc003eau.2	+	6					ZDHHC23_uc003eav.2_3'UTR|ZDHHC23_uc003eaw.1_3'UTR	NM_173570	NP_775841			zinc finger, DHHC domain containing 23							integral to membrane	acyltransferase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114057858	114057858	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:114057858G>A	uc003ebi.2	-	5	2400	c.2220C>T	c.(2218-2220)GAC>GAT	p.D740D	ZBTB20_uc003ebj.2_Silent_p.D667D|ZBTB20_uc010hqp.2_Silent_p.D667D|ZBTB20_uc003ebk.2_Silent_p.D667D|ZBTB20_uc003ebl.2_Silent_p.D667D|ZBTB20_uc003ebm.2_Silent_p.D667D|ZBTB20_uc003ebn.2_Silent_p.D667D	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)														---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114070178	114070178	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:114070178C>T	uc003ebi.2	-	4	927	c.747G>A	c.(745-747)GCG>GCA	p.A249A	ZBTB20_uc003ebj.2_Silent_p.A176A|ZBTB20_uc010hqp.2_Silent_p.A176A|ZBTB20_uc003ebk.2_Silent_p.A176A|ZBTB20_uc003ebl.2_Silent_p.A176A|ZBTB20_uc003ebm.2_Silent_p.A176A|ZBTB20_uc003ebn.2_Silent_p.A176A|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)														---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119084270	119084270	+	Intron	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119084270G>T	uc003ecj.3	+							NM_020754	NP_065805			Cdc42 GTPase-activating protein						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2																		---	---	---	---
KTELC1	56983	broad.mit.edu	37	3	119190219	119190219	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119190219A>G	uc003ecm.2	+	3	324	c.240A>G	c.(238-240)GTA>GTG	p.V80V	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_5'UTR	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	80						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)														---	---	---	---
KTELC1	56983	broad.mit.edu	37	3	119198976	119198976	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119198976A>G	uc003ecm.2	+	5	619	c.535A>G	c.(535-537)ACA>GCA	p.T179A	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.T20A	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	179						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)														---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121158877	121158877	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121158877G>A	uc003eee.3	-	27	7480	c.7351C>T	c.(7351-7353)CCA>TCA	p.P2451S	POLQ_uc003eed.2_Missense_Mutation_p.P1623S	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2451					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)					---	---	---	---
CASR	846	broad.mit.edu	37	3	121980496	121980496	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121980496G>A	uc003eev.3	+	4	986	c.614G>A	c.(613-615)CGC>CAC	p.R205H	CASR_uc003eew.3_Missense_Mutation_p.R205H	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	205	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122864423	122864423	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122864423T>G	uc003egc.1	+	12	1021	c.965T>G	c.(964-966)CTC>CGC	p.L322R	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	322	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)														---	---	---	---
KALRN	8997	broad.mit.edu	37	3	123946846	123946846	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123946846G>A	uc003ehg.2	+	2	204	c.77G>A	c.(76-78)CGG>CAG	p.R26Q	KALRN_uc010hrv.1_Missense_Mutation_p.R26Q|KALRN_uc003ehf.1_Missense_Mutation_p.R26Q|KALRN_uc011bjy.1_Missense_Mutation_p.R26Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	26					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																		---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124709815	124709815	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124709815T>C	uc003ehs.3	-	13	3736	c.3668A>G	c.(3667-3669)TAT>TGT	p.Y1223C	HEG1_uc003ehr.3_Missense_Mutation_p.Y77C|HEG1_uc011bke.1_Missense_Mutation_p.Y1323C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1223	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---
C3orf22	152065	broad.mit.edu	37	3	126272141	126272141	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126272141G>A	uc003ejb.2	-							NM_152533	NP_689746			hypothetical protein LOC152065												0				GBM - Glioblastoma multiforme(114;0.147)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126746844	126746844	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126746844G>A	uc003ejg.2	+	23	4359	c.4355G>A	c.(4354-4356)GGC>GAC	p.G1452D	PLXNA1_uc003ejh.2_Missense_Mutation_p.G120D	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1475	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127327857	127327857	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127327857C>T	uc003ejp.2	+	8	1476	c.1419C>T	c.(1417-1419)ATC>ATT	p.I473I	MCM2_uc011bkm.1_Silent_p.I343I|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.I357I	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	473	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4																		---	---	---	---
COL29A1	256076	broad.mit.edu	37	3	130162359	130162359	+	Missense_Mutation	SNP	C	T	T	rs150604117	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130162359C>T	uc010htj.1	+	36	7021	c.6527C>T	c.(6526-6528)GCC>GTC	p.A2176V	COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.A215V	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	collagen, type XXIX, alpha 1	2176	Nonhelical region.				axon guidance|cell adhesion	collagen					0																		---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130743595	130743595	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130743595T>C	uc003env.1	-	3	998	c.556A>G	c.(556-558)ATT>GTT	p.I186V	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.I186V|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	186					DNA repair		nuclease activity				0																		---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135720336	135720336	+	5'UTR	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135720336A>G	uc003eqv.1	+	2					PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709			protein phosphatase 2, regulatory subunit B'',						protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7																		---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136059323	136059323	+	Intron	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136059323A>T	uc003era.1	-						STAG1_uc003erb.1_Intron	NM_005862	NP_005853			stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
A4GNT	51146	broad.mit.edu	37	3	137843629	137843629	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137843629T>C	uc003ers.2	-	3	702	c.500A>G	c.(499-501)GAC>GGC	p.D167G		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	167	Lumenal (Potential).|DXD motif (By similarity).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1																		---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138739139	138739139	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138739139A>G	uc003esy.1	-	1	630	c.365T>C	c.(364-366)CTG>CCG	p.L122P		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	122										breast(1)	1																		---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142840602	142840602	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142840602C>T	uc003evm.2	+	2	1833	c.944C>T	c.(943-945)GCG>GTG	p.A315V		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	315	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3																		---	---	---	---
SIAH2	6478	broad.mit.edu	37	3	150460061	150460061	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150460061C>T	uc003eyi.2	-	2	1469	c.842G>A	c.(841-843)CGT>CAT	p.R281H		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	281	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012131	151012131	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151012131G>A	uc003eyt.2	-	3	1264	c.903C>T	c.(901-903)TTC>TTT	p.F301F	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	301	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
LXN	56925	broad.mit.edu	37	3	158387236	158387236	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158387236G>A	uc003fch.2	-	3	571	c.356C>T	c.(355-357)GCA>GTA	p.A119V	GFM1_uc003fcd.2_Intron|GFM1_uc003fce.2_Intron|GFM1_uc003fcf.2_Intron|GFM1_uc003fcg.2_Intron|LXN_uc011bov.1_Missense_Mutation_p.A119V	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	latexin	119						cytoplasm	metalloendopeptidase inhibitor activity|protein binding				0			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167000063	167000063	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167000063A>G	uc003fep.2	-	19	2423	c.2100T>C	c.(2098-2100)AAT>AAC	p.N700N	ZBBX_uc011bpc.1_Silent_p.N739N|ZBBX_uc003feq.2_Silent_p.N671N	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	700	Potential.					intracellular	zinc ion binding			ovary(2)	2																		---	---	---	---
LRRC31	79782	broad.mit.edu	37	3	169578504	169578504	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169578504G>T	uc003fgc.1	-	3	409	c.332C>A	c.(331-333)CCT>CAT	p.P111H	LRRC31_uc010hwp.1_Intron	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	111										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)															---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172163150	172163150	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172163150C>T	uc003fib.1	-	2	902	c.902G>A	c.(901-903)AGC>AAC	p.S301N		NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	301	Extracellular (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)															---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	182947567	182947567	+	Silent	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182947567T>A	uc003fli.1	-	17	2022	c.1932A>T	c.(1930-1932)GGA>GGT	p.G644G	MCF2L2_uc003flj.1_Silent_p.G644G|MCF2L2_uc011bqr.1_RNA	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	644	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)															---	---	---	---
B3GNT5	84002	broad.mit.edu	37	3	182988259	182988259	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182988259C>T	uc003flk.2	+	2	1203	c.673C>T	c.(673-675)CGT>TGT	p.R225C	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.R225C|B3GNT5_uc003flm.2_Missense_Mutation_p.R225C	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	225	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)															---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184644375	184644375	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184644375C>T	uc003fpb.1	+						VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Intron	NM_015303	NP_056118			vacuolar protein sorting 8 homolog isoform b								zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)															---	---	---	---
CLDN16	10686	broad.mit.edu	37	3	190127782	190127782	+	Missense_Mutation	SNP	G	A	A	rs139856985	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190127782G>A	uc003fsi.2	+	5	943	c.875G>A	c.(874-876)CGC>CAC	p.R292H	CLDN16_uc010hze.2_3'UTR	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	292	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)														---	---	---	---
TMEM207	131920	broad.mit.edu	37	3	190158096	190158096	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190158096G>A	uc003fsj.2	-	4	308	c.241C>T	c.(241-243)CGA>TGA	p.R81*		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	81						integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)														---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193002723	193002723	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193002723C>T	uc011bsq.1	-	27	3206	c.3206G>A	c.(3205-3207)CGA>CAA	p.R1069Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1069					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)														---	---	---	---
TMEM44	93109	broad.mit.edu	37	3	194344358	194344358	+	Missense_Mutation	SNP	G	A	A	rs146561237		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194344358G>A	uc010hzn.2	-	4	594	c.425C>T	c.(424-426)CCG>CTG	p.P142L	TMEM44_uc003fue.2_Missense_Mutation_p.P142L|TMEM44_uc003fud.2_Missense_Mutation_p.P142L|TMEM44_uc003fuf.2_Missense_Mutation_p.P142L|TMEM44_uc011bsv.1_Missense_Mutation_p.P142L|TMEM44_uc003fuh.1_RNA	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	142	Helical; (Potential).					integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)														---	---	---	---
BDH1	622	broad.mit.edu	37	3	197273282	197273282	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197273282T>C	uc003fxr.2	-	3	435	c.33A>G	c.(31-33)TCA>TCG	p.S11S	BDH1_uc003fxs.2_Silent_p.S11S|BDH1_uc003fxt.2_Intron|BDH1_uc003fxu.2_Silent_p.S11S	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	11					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)													---	---	---	---
MAEA	10296	broad.mit.edu	37	4	1305821	1305821	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1305821C>T	uc003gda.2	+	2	154	c.124C>T	c.(124-126)CGG>TGG	p.R42W	MAEA_uc010ibs.1_Missense_Mutation_p.R42W|MAEA_uc003gdb.2_Missense_Mutation_p.R42W|MAEA_uc011bvb.1_Missense_Mutation_p.R42W|MAEA_uc003gdc.2_Missense_Mutation_p.R42W|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.R41W|MAEA_uc011bvd.1_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	42	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)															---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1980497	1980497	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1980497G>A	uc003gdz.3	+	22	4135	c.3959G>A	c.(3958-3960)CGG>CAG	p.R1320Q	WHSC1_uc003geb.3_Missense_Mutation_p.R1320Q|WHSC1_uc003gec.3_Missense_Mutation_p.R1320Q|WHSC1_uc003ged.3_Missense_Mutation_p.R1320Q|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.R539Q|WHSC1_uc011bvh.1_Missense_Mutation_p.R381Q|WHSC1_uc010icf.2_Missense_Mutation_p.R668Q	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1320					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)				T	IGH@	MM								---	---	---	---
ADD1	118	broad.mit.edu	37	4	2900204	2900204	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2900204C>T	uc003gfr.2	+	8	1118	c.930C>T	c.(928-930)AGC>AGT	p.S310S	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.S310S|ADD1_uc003gfo.2_Silent_p.S310S|ADD1_uc003gfp.2_Silent_p.S310S|ADD1_uc003gfq.2_Silent_p.S310S|ADD1_uc003gfs.2_Silent_p.S310S|ADD1_uc003gft.3_Silent_p.S310S|ADD1_uc003gfu.2_Silent_p.S95S	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	310					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3424203	3424203	+	Missense_Mutation	SNP	C	T	T	rs144503690		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3424203C>T	uc003ggw.2	+	11	3843	c.2939C>T	c.(2938-2940)GCG>GTG	p.A980V	RGS12_uc003ggv.2_Missense_Mutation_p.A980V|RGS12_uc003ggy.1_Missense_Mutation_p.A378V|RGS12_uc003ggz.2_Missense_Mutation_p.A332V|RGS12_uc010icu.1_Missense_Mutation_p.A179V|RGS12_uc011bvs.1_Missense_Mutation_p.A322V|RGS12_uc003gha.2_Missense_Mutation_p.A322V|RGS12_uc010icv.2_Missense_Mutation_p.A179V|RGS12_uc003ghb.2_Missense_Mutation_p.A179V	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	980	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
STK32B	55351	broad.mit.edu	37	4	5458560	5458560	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5458560G>A	uc003gih.1	+	8	757	c.693G>A	c.(691-693)ACG>ACA	p.T231T	STK32B_uc010ida.1_Silent_p.T184T	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	231	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5620258	5620258	+	Nonsense_Mutation	SNP	G	A	A	rs146538906		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5620258G>A	uc003gij.2	-	15	2707	c.2653C>T	c.(2653-2655)CGA>TGA	p.R885*	EVC2_uc011bwb.1_Nonsense_Mutation_p.R325*|EVC2_uc003gik.2_Nonsense_Mutation_p.R805*	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	885						integral to membrane				large_intestine(3)|ovary(2)	5																		---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5624349	5624349	+	Missense_Mutation	SNP	C	T	T	rs138128087		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5624349C>T	uc003gij.2	-	14	2470	c.2416G>A	c.(2416-2418)GTG>ATG	p.V806M	EVC2_uc011bwb.1_Missense_Mutation_p.V246M|EVC2_uc003gik.2_Missense_Mutation_p.V726M	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	806						integral to membrane				large_intestine(3)|ovary(2)	5																		---	---	---	---
MAN2B2	23324	broad.mit.edu	37	4	6610856	6610856	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6610856G>A	uc003gjf.1	+	12	1873	c.1837G>A	c.(1837-1839)GTG>ATG	p.V613M	MAN2B2_uc003gje.1_Missense_Mutation_p.V613M|MAN2B2_uc011bwf.1_Missense_Mutation_p.V562M	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	613					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2																		---	---	---	---
ABLIM2	84448	broad.mit.edu	37	4	8108356	8108356	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8108356G>A	uc003gko.2	-	2	162	c.19C>T	c.(19-21)CCC>TCC	p.P7S	ABLIM2_uc003gkj.3_Missense_Mutation_p.P7S|ABLIM2_uc003gkm.3_Missense_Mutation_p.P7S|ABLIM2_uc003gkp.2_Missense_Mutation_p.P7S|ABLIM2_uc003gkq.2_Missense_Mutation_p.P7S|ABLIM2_uc003gkr.2_Missense_Mutation_p.P7S|ABLIM2_uc003gks.3_Missense_Mutation_p.P7S|ABLIM2_uc011bwl.1_Missense_Mutation_p.P12S	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	7					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3																		---	---	---	---
BOD1L	259282	broad.mit.edu	37	4	13601693	13601693	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13601693G>A	uc003gmz.1	-	10	6948	c.6831C>T	c.(6829-6831)GGC>GGT	p.G2277G	BOD1L_uc010idr.1_Silent_p.G1614G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2277							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---
C1QTNF7	114905	broad.mit.edu	37	4	15437526	15437526	+	Silent	SNP	G	A	A	rs141616746	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15437526G>A	uc011bxb.1	+	2	386	c.159G>A	c.(157-159)GGG>GGA	p.G53G	C1QTNF7_uc003gno.2_Silent_p.G60G|C1QTNF7_uc003gnp.2_Silent_p.G53G	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	53	Collagen-like.					collagen					0																		---	---	---	---
LCORL	254251	broad.mit.edu	37	4	17963635	17963635	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17963635A>T	uc003gpq.2	-	4	332	c.321T>A	c.(319-321)GAT>GAA	p.D107E	LCORL_uc011bxk.1_Missense_Mutation_p.D20E	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24572442	24572442	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24572442C>T	uc003gqx.2	-	3	704	c.536G>A	c.(535-537)CGA>CAA	p.R179Q		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	179	Helicase ATP-binding.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---
DHX15	1665	broad.mit.edu	37	4	24578185	24578185	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24578185G>A	uc003gqx.2	-	2	356	c.188C>T	c.(187-189)GCT>GTT	p.A63V		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	63					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---
SEL1L3	23231	broad.mit.edu	37	4	25849480	25849480	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25849480C>T	uc003gru.3	-	2	321	c.169G>A	c.(169-171)GTA>ATA	p.V57I		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	57						integral to membrane	binding				0																		---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26487494	26487494	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:26487494T>C	uc003gse.1	-	3	544	c.391A>G	c.(391-393)AAT>GAT	p.N131D		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	131	Helical; Name=3; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)													---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30724650	30724650	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:30724650G>A	uc003gsk.1	+	1	2614	c.1606G>A	c.(1606-1608)GGC>AGC	p.G536S	PCDH7_uc011bxw.1_Missense_Mutation_p.G489S|PCDH7_uc011bxx.1_Missense_Mutation_p.G536S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	536	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4																		---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30725630	30725630	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:30725630C>T	uc003gsk.1	+	1	3594	c.2586C>T	c.(2584-2586)ACC>ACT	p.T862T	PCDH7_uc011bxw.1_Silent_p.T815T|PCDH7_uc011bxx.1_Silent_p.T862T	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	862	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4																		---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36195281	36195281	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:36195281A>G	uc003gsq.1	-						ARAP2_uc003gsr.1_Intron	NM_015230	NP_056045			ArfGAP with RhoGAP domain, ankyrin repeat and PH						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
TLR6	10333	broad.mit.edu	37	4	38830759	38830759	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38830759C>T	uc003gtm.2	-	1	402	c.336G>A	c.(334-336)TTG>TTA	p.L112L	TLR6_uc010ifg.1_Silent_p.L112L	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	112	LRR 3.|Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2																		---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44177000	44177000	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44177000C>G	uc003gwu.2	-	2	1513	c.1229G>C	c.(1228-1230)AGT>ACT	p.S410T		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	410						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3															HNSCC(17;0.042)			---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47559796	47559796	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47559796A>C	uc003gxk.1	+	12	2104	c.1940A>C	c.(1939-1941)GAG>GCG	p.E647A	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	647	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3																		---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55146618	55146618	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55146618T>C	uc003han.3	+	16	2623	c.2292T>C	c.(2290-2292)CGT>CGC	p.R764R	PDGFRA_uc003haa.2_Silent_p.R524R|PDGFRA_uc010igq.1_Silent_p.R658R|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Silent_p.R143R	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	764	Protein kinase.|Cytoplasmic (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)			---	---	---	---
TMPRSS11B	132724	broad.mit.edu	37	4	69095169	69095169	+	Missense_Mutation	SNP	C	T	T	rs139488710	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69095169C>T	uc003hdw.3	-	8	888	c.752G>A	c.(751-753)CGG>CAG	p.R251Q		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	251	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
CSN3	1448	broad.mit.edu	37	4	71114945	71114945	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71114945T>C	uc003hfe.3	+	4	376	c.318T>C	c.(316-318)ACT>ACC	p.T106T		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	106						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4																		---	---	---	---
C4orf35	85438	broad.mit.edu	37	4	71201895	71201895	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71201895C>T	uc003hff.2	+	1	1225	c.1139C>T	c.(1138-1140)ACG>ATG	p.T380M		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	380						flagellum	calcium ion binding				0		all_hematologic(202;0.196)																---	---	---	---
USO1	8615	broad.mit.edu	37	4	76695833	76695833	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76695833T>C	uc003hiu.2	+	7	735	c.560T>C	c.(559-561)GTC>GCC	p.V187A	USO1_uc003hiv.2_Missense_Mutation_p.V22A|USO1_uc003hiw.2_Missense_Mutation_p.V22A	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	187	Globular head.|ARM 3.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76793201	76793201	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76793201G>A	uc003hix.2	-	13	1983	c.1626C>T	c.(1624-1626)ACC>ACT	p.T542T	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.T542T	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	542					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)															---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83785682	83785682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83785682G>A	uc003hnf.2	-	11	1431	c.1267C>T	c.(1267-1269)CAG>TAG	p.Q423*	SEC31A_uc003hne.2_Nonsense_Mutation_p.Q195*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hng.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hni.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.Q423*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.Q418*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.Q423*|SEC31A_uc003hno.2_Nonsense_Mutation_p.Q423*	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	423	Interaction with SEC13.				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)																---	---	---	---
THAP9	79725	broad.mit.edu	37	4	83838784	83838784	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83838784G>A	uc003hnt.2	+	5	1538	c.1419G>A	c.(1417-1419)CTG>CTA	p.L473L	THAP9_uc003hns.1_Silent_p.L329L|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Silent_p.L190L	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	473							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)																---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85617311	85617311	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85617311C>T	uc003hpd.2	-	58	9121	c.8713G>A	c.(8713-8715)GCC>ACC	p.A2905T	WDFY3_uc003hpe.1_Missense_Mutation_p.A516T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2905	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87696414	87696414	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87696414C>T	uc003hpz.2	+	34	6079	c.5599C>T	c.(5599-5601)CGA>TGA	p.R1867*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.R1872*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.R1848*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.R1676*|PTPN13_uc003hqc.1_Nonsense_Mutation_p.R233*	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1867	PDZ 4.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)														---	---	---	---
DMP1	1758	broad.mit.edu	37	4	88584427	88584427	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88584427A>C	uc003hqv.2	+	6	1601	c.1497A>C	c.(1495-1497)AAA>AAC	p.K499N	DMP1_uc003hqw.2_Missense_Mutation_p.K483N	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	499					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)														---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89670915	89670915	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89670915C>T	uc003hse.1	-						FAM13A_uc003hsa.1_Intron|FAM13A_uc003hsb.1_Intron|FAM13A_uc003hsd.1_Intron|FAM13A_uc003hsc.1_Intron|FAM13A_uc011cdq.1_Intron|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_Intron|FAM13A_uc010ikr.1_Intron	NM_014883	NP_055698			family with sequence similarity 13, member A1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2																		---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95198191	95198191	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95198191C>T	uc003htc.3	+	16	2218	c.1963C>T	c.(1963-1965)CTC>TTC	p.L655F	SMARCAD1_uc003htb.3_Missense_Mutation_p.L655F|SMARCAD1_uc003htd.3_Missense_Mutation_p.L655F|SMARCAD1_uc010ila.2_Missense_Mutation_p.L518F|SMARCAD1_uc011cdw.1_Missense_Mutation_p.L225F	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	655	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---
BMPR1B	658	broad.mit.edu	37	4	96035949	96035949	+	Silent	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96035949A>C	uc003htm.3	+	5	496	c.222A>C	c.(220-222)CTA>CTC	p.L74L	BMPR1B_uc010ilb.2_Silent_p.L74L|BMPR1B_uc003htn.3_Silent_p.L74L	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	74	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)														---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96761471	96761471	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96761471C>T	uc003htr.3	+	1	233	c.170C>T	c.(169-171)GCG>GTG	p.A57V		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	57					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)													---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101109133	101109133	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101109133G>A	uc003hvq.2	-	3	486	c.283C>T	c.(283-285)CTT>TTT	p.L95F		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	95					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)														---	---	---	---
MANBA	4126	broad.mit.edu	37	4	103555971	103555971	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103555971C>T	uc003hwg.2	-	16	2489	c.2389G>A	c.(2389-2391)GTG>ATG	p.V797M	MANBA_uc011ces.1_Missense_Mutation_p.V740M	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	797					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)														---	---	---	---
SEC24B	10427	broad.mit.edu	37	4	110451569	110451569	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110451569G>T	uc003hzk.2	+	19	3256	c.3201G>T	c.(3199-3201)GCG>GCT	p.A1067A	SEC24B_uc003hzl.2_Silent_p.A1032A|SEC24B_uc011cfp.1_Silent_p.A1097A|SEC24B_uc011cfq.1_Silent_p.A1066A|SEC24B_uc011cfr.1_Silent_p.A1031A	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1067					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)														---	---	---	---
CCDC109B	55013	broad.mit.edu	37	4	110605647	110605647	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110605647C>A	uc011cfs.1	+	6	800	c.661C>A	c.(661-663)CTG>ATG	p.L221M		NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	221	Helical; (Potential).					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)														---	---	---	---
LRIT3	345193	broad.mit.edu	37	4	110791250	110791250	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110791250A>G	uc003hzx.3	+	3	1403	c.1210A>G	c.(1210-1212)AAA>GAA	p.K404E	LRIT3_uc003hzw.3_Missense_Mutation_p.K266E	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	404						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)														---	---	---	---
NEUROG2	63973	broad.mit.edu	37	4	113436263	113436263	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113436263G>A	uc003ias.2	-	2	696	c.369C>T	c.(367-369)AAC>AAT	p.N123N		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	123	Helix-loop-helix motif.|Basic motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	p.N123N(1)		skin(2)|central_nervous_system(1)	3		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)														---	---	---	---
ARSJ	79642	broad.mit.edu	37	4	114823740	114823740	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114823740T>C	uc003ibq.1	-	2	2378	c.1490A>G	c.(1489-1491)AAC>AGC	p.N497S	ARSJ_uc010imu.1_Missense_Mutation_p.N497S|ARSJ_uc010imv.1_Missense_Mutation_p.N325S	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	497						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)														---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119948547	119948547	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119948547G>A	uc003icm.3	+	3	1219	c.1023G>A	c.(1021-1023)TCG>TCA	p.S341S	SYNPO2_uc010ina.2_Silent_p.S341S|SYNPO2_uc010inb.2_Silent_p.S341S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.S269S	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	341						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2																		---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119951141	119951141	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119951141C>T	uc003icm.3	+	4	1407	c.1211C>T	c.(1210-1212)GCC>GTC	p.A404V	SYNPO2_uc010ina.2_Missense_Mutation_p.A404V|SYNPO2_uc010inb.2_Missense_Mutation_p.A404V|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A332V	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	404	Poly-Arg.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2																		---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125592090	125592090	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125592090C>T	uc003ifg.3	-	3	2608	c.2342G>A	c.(2341-2343)GGC>GAC	p.G781D	ANKRD50_uc011cgo.1_Missense_Mutation_p.G602D|ANKRD50_uc010inw.2_Missense_Mutation_p.G781D	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	781	ANK 10.									central_nervous_system(1)	1																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126372844	126372844	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126372844T>C	uc003ifj.3	+	9	10673	c.10673T>C	c.(10672-10674)TTC>TCC	p.F3558S	FAT4_uc011cgp.1_Missense_Mutation_p.F1856S|FAT4_uc003ifi.1_Missense_Mutation_p.F1036S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3558	Cadherin 34.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126389930	126389930	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126389930T>G	uc003ifj.3	+	11	12163	c.12163T>G	c.(12163-12165)TCA>GCA	p.S4055A	FAT4_uc011cgp.1_Missense_Mutation_p.S2318A|FAT4_uc003ifi.1_Missense_Mutation_p.S1533A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4055	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072704	134072704	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134072704T>C	uc003iha.2	+	1	2235	c.1409T>C	c.(1408-1410)GTG>GCG	p.V470A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V470A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	470	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---
ELMOD2	255520	broad.mit.edu	37	4	141446595	141446595	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141446595T>G	uc003iik.2	+	2	105	c.13T>G	c.(13-15)TTG>GTG	p.L5V		NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	5					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143324116	143324116	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:143324116T>C	uc003iix.3	-	8	942	c.347A>G	c.(346-348)GAT>GGT	p.D116G	INPP4B_uc003iiw.3_Missense_Mutation_p.D116G|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	116	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)																	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147561385	147561385	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:147561385G>A	uc003ikv.2	+	2	903	c.655G>A	c.(655-657)GCG>ACG	p.A219T		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	219					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)																	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151511917	151511917	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151511917G>A	uc010ipj.2	-	40	6648	c.6174C>T	c.(6172-6174)GGC>GGT	p.G2058G	LRBA_uc003ilt.3_Silent_p.G706G|LRBA_uc003ilu.3_Silent_p.G2047G	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2058						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)																	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151749498	151749498	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151749498A>G	uc010ipj.2	-	30	5479	c.5005T>C	c.(5005-5007)TCA>CCA	p.S1669P	LRBA_uc003ilt.3_Missense_Mutation_p.S328P|LRBA_uc003ilu.3_Missense_Mutation_p.S1669P	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1669						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)																	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)						Mis|N|D|F		colorectal|endometrial|T-ALL								---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155163925	155163925	+	Splice_Site	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155163925C>T	uc003inw.2	-	22	5577	c.5577_splice	c.e22-1	p.S1859_splice		NM_017639	NP_060109			dachsous 2 isoform 1						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158284167	158284167	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158284167G>A	uc003ipm.3	+	15	3082	c.2623G>A	c.(2623-2625)GTA>ATA	p.V875I	GRIA2_uc011cit.1_Missense_Mutation_p.V828I|GRIA2_uc003ipl.3_Missense_Mutation_p.V875I|GRIA2_uc003ipk.3_Missense_Mutation_p.V828I|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	875	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)													---	---	---	---
FNIP2	57600	broad.mit.edu	37	4	159782803	159782803	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159782803C>T	uc003iqe.3	+	12	1523	c.1340C>T	c.(1339-1341)GCC>GTC	p.A447V		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	447					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)														---	---	---	---
C4orf43	55319	broad.mit.edu	37	4	164428219	164428219	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164428219A>G	uc003iqq.3	+	2	319	c.38A>G	c.(37-39)GAA>GGA	p.E13G		NM_018352	NP_060822	Q96EY4	CD043_HUMAN	hypothetical protein LOC55319	13											0																		---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	167921509	167921509	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:167921509A>C	uc003iri.1	-	5	491	c.350T>G	c.(349-351)CTT>CGT	p.L117R	SPOCK3_uc011cjp.1_Missense_Mutation_p.L114R|SPOCK3_uc011cjq.1_Missense_Mutation_p.L126R|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003irj.1_Missense_Mutation_p.L114R|SPOCK3_uc011cjs.1_Missense_Mutation_p.L66R|SPOCK3_uc011cjt.1_Missense_Mutation_p.L25R|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Missense_Mutation_p.L114R|SPOCK3_uc011cjw.1_RNA	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	117					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)														---	---	---	---
GLRA3	8001	broad.mit.edu	37	4	175580334	175580334	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:175580334T>G	uc003ity.1	-	8	1445	c.942A>C	c.(940-942)AAA>AAC	p.K314N	GLRA3_uc003itz.1_Missense_Mutation_p.K314N	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	314					synaptic transmission	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(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)													---	---	---	---
RWDD4A	201965	broad.mit.edu	37	4	184577096	184577096	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184577096G>A	uc003ivt.1	-	2	269	c.43C>T	c.(43-45)CGC>TGC	p.R15C	RWDD4A_uc003ivu.1_RNA|RWDD4A_uc003ivv.1_Intron|RWDD4A_uc011ckl.1_Intron	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN	RWD domain containing 4A	15	RWD.										0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;7.35e-27)|Epithelial(43;1.49e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.76e-10)|GBM - Glioblastoma multiforme(59;5.54e-06)|Colorectal(24;7.92e-06)|STAD - Stomach adenocarcinoma(60;2.35e-05)|COAD - Colon adenocarcinoma(29;6.26e-05)|LUSC - Lung squamous cell carcinoma(40;0.00935)|READ - Rectum adenocarcinoma(43;0.166)														---	---	---	---
C4orf41	60684	broad.mit.edu	37	4	184633808	184633808	+	3'UTR	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184633808C>T	uc003ivx.2	+	30					C4orf41_uc003ivw.2_3'UTR|C4orf41_uc010isc.2_3'UTR|C4orf41_uc003ivy.2_3'UTR	NM_021942	NP_068761			hypothetical protein LOC60684 isoform a												0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)														---	---	---	---
FAM149A	25854	broad.mit.edu	37	4	187077204	187077204	+	Missense_Mutation	SNP	G	A	A	rs140463493	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187077204G>A	uc003iyt.3	+	7	1013	c.434G>A	c.(433-435)CGC>CAC	p.R145H	FAM149A_uc011cla.1_Missense_Mutation_p.R145H|FAM149A_uc010isj.2_Missense_Mutation_p.R145H|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Missense_Mutation_p.R145H|FAM149A_uc010isl.2_Missense_Mutation_p.R145H|FAM149A_uc011clb.1_Missense_Mutation_p.R145H	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	436										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)														---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924074	188924074	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:188924074C>T	uc003izg.1	+	3	358	c.113C>T	c.(112-114)GCG>GTG	p.A38V	ZFP42_uc003izh.1_Missense_Mutation_p.A38V|ZFP42_uc003izi.1_Missense_Mutation_p.A38V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	38					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)														---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1083971	1083971	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1083971C>A	uc003jbu.2	-	8	1084	c.1018G>T	c.(1018-1020)GGC>TGC	p.G340C		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	340					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)													---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3599722	3599722	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:3599722C>T	uc003jde.2	+	2	712	c.660C>T	c.(658-660)GAC>GAT	p.D220D		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
NSUN2	54888	broad.mit.edu	37	5	6602564	6602564	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6602564A>G	uc003jdu.2	-						NSUN2_uc003jds.2_Intron|NSUN2_uc003jdt.2_Intron|NSUN2_uc011cmk.1_Intron|NSUN2_uc003jdv.2_Intron	NM_017755	NP_060225			NOL1/NOP2/Sun domain family, member 2							cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1																		---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6742719	6742719	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6742719C>A	uc003jdx.1	+						PAPD7_uc011cmn.1_Intron	NM_006999	NP_008930			DNA polymerase sigma						cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9044506	9044506	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9044506G>A	uc003jek.2	-	22	3796	c.3084C>T	c.(3082-3084)TAC>TAT	p.Y1028Y		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	1028	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9108327	9108327	+	Silent	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9108327T>G	uc003jek.2	-	16	2710	c.1998A>C	c.(1996-1998)ACA>ACC	p.T666T		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	666	TSP type-1 3.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11346489	11346489	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11346489A>T	uc003jfa.1	-	9	1768	c.1623T>A	c.(1621-1623)GAT>GAA	p.D541E	CTNND2_uc010itt.2_Missense_Mutation_p.D450E|CTNND2_uc011cmy.1_Missense_Mutation_p.D204E|CTNND2_uc011cmz.1_Missense_Mutation_p.D108E|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D108E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	541	ARM 2.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16694613	16694613	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16694613C>T	uc003jft.3	-	27	4135	c.3667G>A	c.(3667-3669)GGG>AGG	p.G1223R	MYO10_uc011cnc.1_Missense_Mutation_p.G102R|MYO10_uc011cnd.1_Missense_Mutation_p.G580R|MYO10_uc011cne.1_Missense_Mutation_p.G580R|MYO10_uc010itx.2_Missense_Mutation_p.G846R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19838877	19838877	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19838877A>G	uc003jgc.2	-	2	596	c.219T>C	c.(217-219)TAT>TAC	p.Y73Y	CDH18_uc003jgd.2_Silent_p.Y73Y|CDH18_uc011cnm.1_Silent_p.Y73Y	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	73	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---
RNASEN	29102	broad.mit.edu	37	5	31449476	31449476	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31449476A>G	uc003jhg.2	-	21	3092	c.2733T>C	c.(2731-2733)GAT>GAC	p.D911D	RNASEN_uc003jhh.2_Silent_p.D874D|RNASEN_uc003jhi.2_Silent_p.D874D	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	911	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0																		---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090071	32090071	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32090071T>C	uc003jhl.2	+	20	6905	c.6517T>C	c.(6517-6519)TCC>CCC	p.S2173P	PDZD2_uc003jhm.2_Missense_Mutation_p.S2173P	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32712294	32712294	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32712294T>C	uc003jhv.2	+	1	630	c.412T>C	c.(412-414)TAT>CAT	p.Y138H	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.Y138H	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	138	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)													---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34823324	34823324	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34823324C>T	uc003jir.2	+	15	1573	c.1377C>T	c.(1375-1377)CTC>CTT	p.L459L	RAI14_uc010iur.2_Silent_p.L430L|RAI14_uc011coj.1_Silent_p.L459L|RAI14_uc003jis.2_Silent_p.L462L|RAI14_uc003jit.2_Silent_p.L459L|RAI14_uc011cok.1_Silent_p.L451L	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	459	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)																	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35691158	35691158	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35691158C>T	uc003jjo.2	+	11	1655	c.1544C>T	c.(1543-1545)GCC>GTC	p.A515V	SPEF2_uc003jjq.3_Missense_Mutation_p.A515V|SPEF2_uc003jjp.1_Missense_Mutation_p.A6V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	515					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37017251	37017251	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37017251G>A	uc003jkl.3	+	24	5406	c.4907G>A	c.(4906-4908)CGC>CAC	p.R1636H	NIPBL_uc003jkk.3_Missense_Mutation_p.R1636H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1636					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)															---	---	---	---
GDNF	2668	broad.mit.edu	37	5	37815784	37815784	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37815784T>G	uc011cpi.1	-	3	805	c.605A>C	c.(604-606)AAG>ACG	p.K202T	GDNF_uc011cpc.1_Missense_Mutation_p.K124T|GDNF_uc011cpd.1_Missense_Mutation_p.K150T|GDNF_uc011cpe.1_Missense_Mutation_p.K176T|GDNF_uc011cpf.1_Missense_Mutation_p.K176T|GDNF_uc011cpg.1_Missense_Mutation_p.K219T|GDNF_uc011cph.1_Missense_Mutation_p.K193T	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	202					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38947433	38947433	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38947433G>A	uc003jlp.2	-	32	4271	c.4247C>T	c.(4246-4248)GCC>GTC	p.A1416V	RICTOR_uc003jlo.2_Missense_Mutation_p.A1440V|RICTOR_uc010ivf.2_Missense_Mutation_p.A1131V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1416					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40852450	40852450	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40852450C>T	uc003jmg.2	+	3	1091	c.1016C>T	c.(1015-1017)ACG>ATG	p.T339M		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	339					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41862805	41862805	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41862805A>G	uc003jmn.2	-	2	457	c.126T>C	c.(124-126)TTT>TTC	p.F42F		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	42					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
ZNF131	7690	broad.mit.edu	37	5	43161497	43161497	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43161497C>T	uc011cpw.1	+	5	554	c.518C>T	c.(517-519)GCC>GTC	p.A173V	ZNF131_uc010ivl.1_Missense_Mutation_p.A173V|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.A173V|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	173						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52177731	52177731	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52177731C>T	uc003jou.2	+	7	703	c.651C>T	c.(649-651)AAC>AAT	p.N217N	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	217	Extracellular (Potential).|VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)																---	---	---	---
MCCC2	64087	broad.mit.edu	37	5	70942086	70942086	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70942086T>C	uc003kbs.3	+	13	1336	c.1198T>C	c.(1198-1200)TTC>CTC	p.F400L	MCCC2_uc003kbt.3_RNA	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	400	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)													---	---	---	---
MRPS27	23107	broad.mit.edu	37	5	71533950	71533950	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71533950C>T	uc003kbz.3	-	5	323	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	MRPS27_uc003kca.3_Missense_Mutation_p.R40Q|MRPS27_uc011cse.1_Missense_Mutation_p.R110Q|MRPS27_uc010iza.2_Missense_Mutation_p.R40Q|MRPS27_uc010iyz.1_RNA	NM_015084	NP_055899	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	96						mitochondrion|ribosome					0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)														---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71739855	71739855	+	Missense_Mutation	SNP	C	T	T	rs112462947	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71739855C>T	uc003kce.1	-	5	2149	c.1963G>A	c.(1963-1965)GCC>ACC	p.A655T		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)														---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82815203	82815203	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82815203G>A	uc003kii.3	+	7	1434	c.1078G>A	c.(1078-1080)GCA>ACA	p.A360T	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A360T|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	360	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---
COX7C	1350	broad.mit.edu	37	5	85913901	85913901	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:85913901C>T	uc003kir.2	+	1	118	c.29C>T	c.(28-30)ACA>ATA	p.T10I		NM_001867	NP_001858	P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc precursor	10					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)														---	---	---	---
LYSMD3	116068	broad.mit.edu	37	5	89815313	89815313	+	Intron	SNP	A	G	G	rs63013660		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89815313A>G	uc003kjr.2	-						LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Intron	NM_198273	NP_938014			LysM, putative peptidoglycan-binding, domain						cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)														---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95748029	95748029	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:95748029A>G	uc003kls.1	-	7	1081	c.875T>C	c.(874-876)GTC>GCC	p.V292A	PCSK1_uc010jbi.1_Missense_Mutation_p.V53A	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	292	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
LNPEP	4012	broad.mit.edu	37	5	96363452	96363452	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96363452C>A	uc003kmv.1	+	17	3394	c.2880C>A	c.(2878-2880)TCC>TCA	p.S960S	LNPEP_uc003kmw.1_Silent_p.S946S	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	960	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)														---	---	---	---
ST8SIA4	7903	broad.mit.edu	37	5	100222206	100222206	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:100222206C>T	uc003knk.2	-	3	672	c.344G>A	c.(343-345)CGC>CAC	p.R115H	ST8SIA4_uc003knl.2_Missense_Mutation_p.R115H	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	115	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)														---	---	---	---
GIN1	54826	broad.mit.edu	37	5	102444277	102444277	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102444277G>A	uc003koa.1	-	2	217	c.135C>T	c.(133-135)TTC>TTT	p.F45F	GIN1_uc003kob.1_5'UTR|GIN1_uc003koc.1_Silent_p.F45F	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	45					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)														---	---	---	---
FER	2241	broad.mit.edu	37	5	108380463	108380463	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108380463A>G	uc003kop.1	+	15	2180	c.1796A>G	c.(1795-1797)CAG>CGG	p.Q599R	FER_uc011cvg.1_Missense_Mutation_p.Q424R	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	599	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)														---	---	---	---
PJA2	9867	broad.mit.edu	37	5	108672997	108672997	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108672997C>A	uc003kos.3	-	10	2282	c.2062G>T	c.(2062-2064)GCT>TCT	p.A688S		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	688	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)														---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112328441	112328441	+	Missense_Mutation	SNP	G	A	A	rs149992344	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112328441G>A	uc003kqh.2	+	4	604	c.406G>A	c.(406-408)GCT>ACT	p.A136T	DCP2_uc011cwa.1_5'UTR|DCP2_uc010jcc.2_Missense_Mutation_p.A42T	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	136	Nudix box.|Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)														---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115840539	115840539	+	Splice_Site	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115840539A>G	uc010jck.2	-	2	809	c.100_splice	c.e2+1	p.Y34_splice	SEMA6A_uc003krx.3_Splice_Site_p.Y34_splice	NM_020796	NP_065847			sema domain, transmembrane domain (TM), and						apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)														---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121780285	121780285	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121780285A>G	uc003ksw.1	+	8	1656	c.1450A>G	c.(1450-1452)ACC>GCC	p.T484A	SNCAIP_uc011cwl.1_Missense_Mutation_p.T42A|SNCAIP_uc003ksx.1_Missense_Mutation_p.T531A|SNCAIP_uc003ksy.1_Missense_Mutation_p.T118A|SNCAIP_uc003ksz.1_Missense_Mutation_p.T118A|SNCAIP_uc010jcu.2_Missense_Mutation_p.T80A|SNCAIP_uc011cwm.1_Missense_Mutation_p.T118A|SNCAIP_uc003kta.1_Missense_Mutation_p.T116A|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.T178A|SNCAIP_uc010jcx.1_Missense_Mutation_p.T424A|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_5'UTR	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	484	ANK 4.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)														---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126769111	126769111	+	Missense_Mutation	SNP	C	T	T	rs148212621		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126769111C>T	uc003kuh.3	+	15	2112	c.1750C>T	c.(1750-1752)CCC>TCC	p.P584S	MEGF10_uc003kui.3_Missense_Mutation_p.P584S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	584	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 11.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)														---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128368986	128368986	+	3'UTR	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:128368986T>A	uc003kuy.2	+	11					SLC27A6_uc003kuz.2_3'UTR	NM_014031	NP_054750			solute carrier family 27 (fatty acid						long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)														---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128977657	128977657	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:128977657A>G	uc003kvb.1	+						ADAMTS19_uc010jdh.1_Intron	NM_133638	NP_598377			ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)														---	---	---	---
CHSY3	337876	broad.mit.edu	37	5	129243787	129243787	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:129243787T>C	uc003kvd.2	+	2	820	c.820T>C	c.(820-822)TTT>CTT	p.F274L		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	274	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)														---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130840422	130840422	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:130840422T>C	uc003kvn.1	-	11	1357	c.1151A>G	c.(1150-1152)GAA>GGA	p.E384G	RAPGEF6_uc003kvp.1_Missense_Mutation_p.E434G|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E384G|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E384G|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E384G|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E101G|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E384G|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E384G	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	384	cNMP.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)														---	---	---	---
CDKL3	51265	broad.mit.edu	37	5	133695646	133695646	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:133695646C>T	uc003kzf.3	-	3	421	c.302G>A	c.(301-303)CGA>CAA	p.R101Q	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_5'UTR|CDKL3_uc003kzg.3_Missense_Mutation_p.R101Q|CDKL3_uc011cxr.1_Missense_Mutation_p.R101Q	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	101	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
SPOCK1	6695	broad.mit.edu	37	5	136834163	136834163	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:136834163C>T	uc003lbo.2	-	1	276	c.85G>A	c.(85-87)GGA>AGA	p.G29R	SPOCK1_uc003lbp.2_Missense_Mutation_p.G29R	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	29					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
FAM53C	51307	broad.mit.edu	37	5	137682483	137682483	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137682483C>A	uc003lcv.2	+	5	1484	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P	FAM53C_uc003lcw.2_Silent_p.P338P|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_3'UTR	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	338										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
MATR3	9782	broad.mit.edu	37	5	138643309	138643309	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138643309G>A	uc003ldu.2	+	5	632	c.205G>A	c.(205-207)GCT>ACT	p.A69T	MATR3_uc003lds.2_Missense_Mutation_p.A69T|MATR3_uc010jfb.2_Missense_Mutation_p.A69T|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Missense_Mutation_p.A69T|MATR3_uc003ldx.2_Missense_Mutation_p.A69T|MATR3_uc010jfc.2_Missense_Mutation_p.A69T|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.A69T|MATR3_uc003lea.2_Missense_Mutation_p.A69T	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	69						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139235336	139235336	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139235336A>G	uc003lex.1	-	6	1442	c.1217T>C	c.(1216-1218)GTC>GCC	p.V406A	NRG2_uc003lev.1_Missense_Mutation_p.V414A|NRG2_uc003lew.1_Missense_Mutation_p.V408A|NRG2_uc003ley.1_Missense_Mutation_p.V400A	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	406	Helical; Note=Internal signal sequence; (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167303	140167303	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140167303G>A	uc003lhb.2	+	1	1428	c.1428G>A	c.(1426-1428)ACG>ACA	p.T476T	PCDHA1_uc003lha.2_Silent_p.T476T|PCDHA1_uc003lgz.2_Silent_p.T476T	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	476	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167617	140167617	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140167617T>C	uc003lhb.2	+	1	1742	c.1742T>C	c.(1741-1743)GTG>GCG	p.V581A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.V581A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	581	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175140	140175140	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140175140G>A	uc003lhd.2	+	1	697	c.591G>A	c.(589-591)GGG>GGA	p.G197G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.G197G|PCDHA2_uc011czy.1_Silent_p.G197G	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	197	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175673	140175673	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140175673C>T	uc003lhd.2	+	1	1230	c.1124C>T	c.(1123-1125)TCG>TTG	p.S375L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.S375L|PCDHA2_uc011czy.1_Missense_Mutation_p.S375L	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	375	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188759	140188759	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140188759G>A	uc003lhi.2	+	1	2088	c.1987G>A	c.(1987-1989)GCC>ACC	p.A663T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A663T|PCDHA4_uc011daa.1_Missense_Mutation_p.A663T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	663	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140203164	140203164	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140203164T>C	uc003lhl.2	+	1	1804	c.1804T>C	c.(1804-1806)TAC>CAC	p.Y602H	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_Missense_Mutation_p.Y602H|PCDHA5_uc003lhj.1_Missense_Mutation_p.Y602H	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	602	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209139	140209139	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140209139C>T	uc003lho.2	+	1	1490	c.1463C>T	c.(1462-1464)GCG>GTG	p.A488V	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_Missense_Mutation_p.A488V|PCDHA6_uc011dab.1_Missense_Mutation_p.A488V	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	488	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229360	140229360	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140229360C>T	uc003lhu.2	+	1	2004	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V	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_uc003lht.1_Missense_Mutation_p.A427V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250297	140250297	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140250297C>A	uc003lia.2	+	1	2467	c.1609C>A	c.(1609-1611)CGC>AGC	p.R537S	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.R537S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	537	Extracellular (Potential).|Cadherin 5.				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)															---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263587	140263587	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263587C>T	uc003lif.2	+	1	1734	c.1734C>T	c.(1732-1734)AGC>AGT	p.S578S	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_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S578S|PCDHA13_uc003lid.2_Silent_p.S578S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	578	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHAC2	56134	broad.mit.edu	37	5	140347691	140347691	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140347691C>T	uc003lii.2	+	1	1580	c.1340C>T	c.(1339-1341)CCG>CTG	p.P447L	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_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.P447L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	447	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531810	140531810	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140531810G>A	uc003lir.2	+	1	1972	c.1972G>A	c.(1972-1974)GTG>ATG	p.V658M	PCDHB6_uc011dah.1_Missense_Mutation_p.V522M	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	658	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140532163	140532163	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140532163G>T	uc003lir.2	+	1	2325	c.2325G>T	c.(2323-2325)CAG>CAT	p.Q775H	PCDHB6_uc011dah.1_Missense_Mutation_p.Q639H	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	775	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559277	140559277	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559277C>T	uc011dai.1	+	1	1848	c.1662C>T	c.(1660-1662)GAC>GAT	p.D554D	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	554	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140563395	140563395	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140563395C>A	uc003liv.2	+	1	2416	c.1261C>A	c.(1261-1263)CTC>ATC	p.L421I	PCDHB16_uc010jfw.1_Missense_Mutation_p.L93I	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	421	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB9	56127	broad.mit.edu	37	5	140568260	140568260	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140568260A>G	uc003liw.1	+	3	1369	c.1369A>G	c.(1369-1371)ACC>GCC	p.T457A		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	457	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140712379	140712379	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140712379G>A	uc003lji.1	+	1	2128	c.2128G>A	c.(2128-2130)GTG>ATG	p.V710M	PCDHGA1_uc011dan.1_Missense_Mutation_p.V710M	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	710	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720690	140720690	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140720690C>T	uc003ljk.1	+	1	2337	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.R718C|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	718	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140725511	140725511	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140725511G>A	uc003ljm.1	+	1	1911	c.1911G>A	c.(1909-1911)GCG>GCA	p.A637A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A397A|PCDHGA3_uc011dap.1_Silent_p.A637A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	637	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140739781	140739781	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140739781G>A	uc003ljs.1	+	1	79	c.79G>A	c.(79-81)GGG>AGG	p.G27R	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_uc011dar.1_Missense_Mutation_p.G27R	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	27					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)													OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140769353	140769353	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140769353C>T	uc003lkc.1	+	1	1902	c.1902C>T	c.(1900-1902)GAC>GAT	p.D634D	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_uc011dav.1_Silent_p.D634D	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	634	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|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)															---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140795052	140795052	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140795052T>A	uc003lkl.1	+	1	2310	c.2310T>A	c.(2308-2310)AGT>AGA	p.S770R	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_uc011day.1_Missense_Mutation_p.S770R|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	770	Cytoplasmic (Potential).				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)															---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140801469	140801469	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140801469C>T	uc003lkq.1	+	1	933	c.675C>T	c.(673-675)GGC>GGT	p.G225G	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_Silent_p.G225G|PCDHGA11_uc003lkp.1_Silent_p.G225G	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	225	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)															---	---	---	---
RNF14	9604	broad.mit.edu	37	5	141358224	141358224	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141358224T>C	uc003lly.2	+	4	702	c.663T>C	c.(661-663)AGT>AGC	p.S221S	RNF14_uc003llz.2_Silent_p.S221S|RNF14_uc003lma.2_Silent_p.S221S|RNF14_uc003lmb.2_Silent_p.S95S|RNF14_uc003lmc.2_Silent_p.S221S|RNF14_uc011dbg.1_Intron|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Silent_p.S221S	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	221	RING-type 1; atypical.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding				0		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)														---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146788339	146788339	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146788339T>C	uc003lon.1	-	7	752	c.642A>G	c.(640-642)GAA>GAG	p.E214E	DPYSL3_uc003loo.2_Silent_p.E328E	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	214					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ABLIM3	22885	broad.mit.edu	37	5	148619446	148619446	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148619446G>A	uc003lpy.2	+	13	1450	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	ABLIM3_uc003lpz.1_Missense_Mutation_p.R400H|ABLIM3_uc003lqa.1_Missense_Mutation_p.R346H|ABLIM3_uc003lqb.2_Missense_Mutation_p.R338H|ABLIM3_uc003lqc.1_Missense_Mutation_p.R400H|ABLIM3_uc003lqd.1_Missense_Mutation_p.R338H|ABLIM3_uc003lqf.2_Missense_Mutation_p.R338H|ABLIM3_uc003lqe.1_Missense_Mutation_p.R338H	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	400					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148687114	148687114	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148687114C>T	uc003lqh.2	+	7	816	c.685C>T	c.(685-687)CGG>TGG	p.R229W	AFAP1L1_uc003lqg.3_Missense_Mutation_p.R229W|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R229W	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	229	PH 1.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149447811	149447811	+	Silent	SNP	C	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149447811C>G	uc003lrl.2	-	10	1788	c.1593G>C	c.(1591-1593)CTG>CTC	p.L531L	CSF1R_uc011dcd.1_Silent_p.L383L|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.L531L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	531	Helical; (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)													---	---	---	---
ARSI	340075	broad.mit.edu	37	5	149677060	149677060	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149677060T>C	uc003lrv.2	-	2	2016	c.1427A>G	c.(1426-1428)GAC>GGC	p.D476G		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	476						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
RPS14	6208	broad.mit.edu	37	5	149826384	149826384	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149826384G>A	uc003lsh.2	-	3	565	c.292C>T	c.(292-294)CGG>TGG	p.R98W	uc003lsg.2_5'Flank|RPS14_uc003lsi.2_Missense_Mutation_p.R98W|RPS14_uc003lsj.2_Missense_Mutation_p.R98W	NM_001025071	NP_001020242	P62263	RS14_HUMAN	ribosomal protein S14	98					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
NDST1	3340	broad.mit.edu	37	5	149927860	149927860	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149927860G>A	uc003lsk.3	+	12	2728	c.2226G>A	c.(2224-2226)TCG>TCA	p.S742S	NDST1_uc011dcj.1_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	742	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
ANXA6	309	broad.mit.edu	37	5	150505975	150505975	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150505975C>A	uc003ltl.1	-	14	1196	c.1044G>T	c.(1042-1044)GTG>GTT	p.V348V	ANXA6_uc011dcp.1_Silent_p.V316V|ANXA6_uc003ltm.1_Silent_p.V348V|ANXA6_uc003ltn.1_Silent_p.V141V|ANXA6_uc003lto.1_Intron	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	348						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)													OREG0016946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150900904	150900904	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150900904C>T	uc003lue.3	-	18	11263	c.11250G>A	c.(11248-11250)ACG>ACA	p.T3750T	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.T443T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3750	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153674465	153674465	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153674465C>T	uc003lvh.2	+	2	381	c.249C>T	c.(247-249)GAC>GAT	p.D83D	GALNT10_uc003lvg.1_Silent_p.D83D|GALNT10_uc010jic.2_RNA	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	83	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)															---	---	---	---
RARS	5917	broad.mit.edu	37	5	167915644	167915644	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167915644G>A	uc003lzx.2	+	2	124	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	RARS_uc011deo.1_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	28	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)														---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168093623	168093623	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:168093623C>A	uc003mab.2	-	36	4828	c.4408G>T	c.(4408-4410)GCC>TCC	p.A1470S	SLIT3_uc010jjg.2_Missense_Mutation_p.A1477S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1470	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169496192	169496192	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169496192C>A	uc003maf.2	+	46	4776	c.4696C>A	c.(4696-4698)CTG>ATG	p.L1566M	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L1058M|DOCK2_uc003mah.2_Missense_Mutation_p.L122M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1566	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
KCNIP1	30820	broad.mit.edu	37	5	169780874	169780874	+	5'Flank	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169780874C>T	uc003map.2	+							NM_001034838	NP_001030010			Kv channel interacting protein 1 isoform 3						detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
ERGIC1	57222	broad.mit.edu	37	5	172362180	172362180	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172362180C>A	uc003mbw.3	+						ERGIC1_uc003mby.3_Intron|ERGIC1_uc011dfa.1_Intron|ERGIC1_uc003mca.3_RNA	NM_001031711	NP_001026881			endoplasmic reticulum-golgi intermediate						ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
FAF2	23197	broad.mit.edu	37	5	175933771	175933771	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:175933771A>G	uc003mej.3	+	11	1211	c.1158A>G	c.(1156-1158)GTA>GTG	p.V386V		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	386	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1																		---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176003174	176003174	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176003174C>T	uc003mem.1	+	12	1248	c.1182C>T	c.(1180-1182)TAC>TAT	p.Y394Y	CDHR2_uc003men.1_Silent_p.Y394Y	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	394	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
FGFR4	2264	broad.mit.edu	37	5	176517487	176517487	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176517487G>A	uc003mfl.2	+	3	355	c.188G>A	c.(187-189)GGT>GAT	p.G63D	FGFR4_uc003mfm.2_Missense_Mutation_p.G63D|FGFR4_uc011dfu.1_Missense_Mutation_p.G63D|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_Missense_Mutation_p.G63D|FGFR4_uc011dfw.1_Missense_Mutation_p.G63D|FGFR4_uc003mfo.2_Missense_Mutation_p.G63D	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	63	Ig-like C2-type 1.|Extracellular (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)										TSP Lung(9;0.080)			---	---	---	---
LMAN2	10960	broad.mit.edu	37	5	176761333	176761333	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176761333C>T	uc003mge.2	-	7	1099	c.862G>A	c.(862-864)GAC>AAC	p.D288N	LMAN2_uc003mgd.2_Missense_Mutation_p.D288N	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	288	Lumenal (Potential).				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
FAM153C	653316	broad.mit.edu	37	5	177473894	177473894	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177473894G>A	uc011dge.1	+	10	496	c.295G>A	c.(295-297)GCA>ACA	p.A99T	FAM153C_uc003mig.1_Missense_Mutation_p.A99T	NM_001079527	NP_001072995			hypothetical protein LOC653316												0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178413540	178413540	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178413540C>T	uc003mjr.2	-	8	1894	c.1715G>A	c.(1714-1716)CGC>CAC	p.R572H	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.R155H|GRM6_uc003mjs.1_Missense_Mutation_p.R192H	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	572	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178413854	178413854	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178413854C>T	uc003mjr.2	-	7	1664	c.1485G>A	c.(1483-1485)GAG>GAA	p.E495E	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.E78E|GRM6_uc003mjs.1_Silent_p.E115E	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	495	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---
GFPT2	9945	broad.mit.edu	37	5	179743769	179743769	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179743769C>T	uc003mlw.1	-	12	1245	c.1147G>A	c.(1147-1149)GTG>ATG	p.V383M		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	383	SIS 1.				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)													---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180053236	180053236	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180053236C>T	uc003mma.3	-	9	1212	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	FLT4_uc003mlz.3_Missense_Mutation_p.R378H|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.R378H	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	378	Ig-like C2-type 4.|Extracellular (Potential).		R -> C (in a renal clear cell carcinoma sample; somatic mutation).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.R378C(1)		lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)									Congenital_Hereditary_Lymphedema				---	---	---	---
TRIM52	84851	broad.mit.edu	37	5	180687440	180687440	+	Silent	SNP	T	C	C	rs80196452		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180687440T>C	uc003mnp.2	-	1	680	c.375A>G	c.(373-375)GAA>GAG	p.E125E	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	125	Glu-rich.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)														---	---	---	---
RIPK1	8737	broad.mit.edu	37	6	3083315	3083315	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3083315G>A	uc010jni.2	+						RIPK1_uc003muv.3_Intron|RIPK1_uc003muw.3_Intron|RIPK1_uc011dhs.1_Intron|RIPK1_uc003mux.2_Intron	NM_003804	NP_003795			receptor (TNFRSF)-interacting serine-threonine						activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)																---	---	---	---
FAM50B	26240	broad.mit.edu	37	6	3850865	3850865	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3850865G>A	uc003mvu.2	+	2	932	c.820G>A	c.(820-822)GTG>ATG	p.V274M		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	274						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)																---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4943797	4943797	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4943797T>C	uc003mwi.2	+	7	1432	c.1301T>C	c.(1300-1302)TTC>TCC	p.F434S	CDYL_uc003mwj.2_Missense_Mutation_p.F380S|CDYL_uc003mwk.2_Missense_Mutation_p.F145S|CDYL_uc011dhx.1_Missense_Mutation_p.F248S|CDYL_uc011dhy.1_Missense_Mutation_p.F248S	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	434					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)														---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4952537	4952537	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4952537C>T	uc003mwi.2	+	8	1663	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	CDYL_uc003mwj.2_Missense_Mutation_p.A457V|CDYL_uc003mwk.2_Missense_Mutation_p.A222V|CDYL_uc011dhx.1_Missense_Mutation_p.A325V|CDYL_uc011dhy.1_Missense_Mutation_p.A325V	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	511					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)														---	---	---	---
FARS2	10667	broad.mit.edu	37	6	5369002	5369002	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:5369002A>G	uc010jnv.1	+	2	535	c.199A>G	c.(199-201)ACC>GCC	p.T67A	FARS2_uc003mwr.2_Missense_Mutation_p.T67A|FARS2_uc003mws.1_Missense_Mutation_p.T67A	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	67					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)													---	---	---	---
FARS2	10667	broad.mit.edu	37	6	5431904	5431904	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:5431904G>A	uc010jnv.1	+						FARS2_uc003mwr.2_Intron	NM_006567	NP_006558			phenylalanyl-tRNA synthetase 2 precursor						phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)													---	---	---	---
LY86	9450	broad.mit.edu	37	6	6588968	6588968	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:6588968A>G	uc003mwy.1	+	1	35	c.1A>G	c.(1-3)ATG>GTG	p.M1V	LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	1					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)																	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7248924	7248924	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7248924C>T	uc003mxc.2	+	12	5177	c.4787C>T	c.(4786-4788)GCC>GTC	p.A1596V	RREB1_uc003mxb.2_Missense_Mutation_p.A1651V|RREB1_uc010jnx.2_Missense_Mutation_p.A1385V	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1596					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)																---	---	---	---
DSP	1832	broad.mit.edu	37	6	7576615	7576615	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7576615C>T	uc003mxp.1	+	19	2998	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	DSP_uc003mxq.1_Missense_Mutation_p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	907	Globular 1.|Spectrin 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7585193	7585193	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7585193T>C	uc003mxp.1	+	24	7977	c.7698T>C	c.(7696-7698)GGT>GGC	p.G2566G	DSP_uc003mxq.1_Silent_p.G1967G	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2566	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11191366	11191366	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:11191366G>A	uc003mzv.2	-	5	903	c.736C>T	c.(736-738)CCC>TCC	p.P246S	NEDD9_uc010joz.2_Missense_Mutation_p.P246S|NEDD9_uc003mzw.3_Missense_Mutation_p.P100S	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	246					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)															---	---	---	---
GFOD1	54438	broad.mit.edu	37	6	13365145	13365145	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13365145C>T	uc003nat.1	-	2	1668	c.1003G>A	c.(1003-1005)GCC>ACC	p.A335T	GFOD1_uc003nas.1_Missense_Mutation_p.A232T	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	335						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)															---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15496493	15496493	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15496493C>A	uc003nbj.2	+	7	1281	c.1037C>A	c.(1036-1038)GCT>GAT	p.A346D	JARID2_uc011diu.1_Missense_Mutation_p.A210D|JARID2_uc011div.1_Missense_Mutation_p.A174D|JARID2_uc011diw.1_Missense_Mutation_p.A308D	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	346					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15507490	15507490	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15507490C>A	uc003nbj.2	+						JARID2_uc011div.1_Intron|JARID2_uc011diw.1_Intron	NM_004973	NP_004964			jumonji, AT rich interactive domain 2 protein						central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24588957	24588957	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24588957G>A	uc011djo.1	-	4	1095	c.858C>T	c.(856-858)ACC>ACT	p.T286T	KIAA0319_uc011djp.1_Silent_p.T241T|KIAA0319_uc003neh.1_Silent_p.T286T|KIAA0319_uc011djq.1_Silent_p.T277T|KIAA0319_uc011djr.1_Silent_p.T286T	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	286	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25966795	25966795	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25966795C>A	uc003nfm.2	+	3	480	c.45C>A	c.(43-45)ACC>ACA	p.T15T	TRIM38_uc003nfn.2_Silent_p.T15T	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	15					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0																		---	---	---	---
HIST1H1A	3024	broad.mit.edu	37	6	26017758	26017758	+	Missense_Mutation	SNP	G	A	A	rs147576172	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26017758G>A	uc003nfo.2	-	1	283	c.203C>T	c.(202-204)GCG>GTG	p.A68V	HIST1H3A_uc003nfp.1_5'Flank	NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	68	H15.				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2																		---	---	---	---
HIST1H3F	8968	broad.mit.edu	37	6	26250706	26250706	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26250706C>A	uc003nhg.1	-	1	130	c.128G>T	c.(127-129)AGG>ATG	p.R43M	HIST1H2BH_uc003nhh.2_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	43					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0																		---	---	---	---
HIST1H2AL	8332	broad.mit.edu	37	6	27833428	27833428	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27833428G>A	uc003njw.2	+	1	322	c.296G>A	c.(295-297)GGC>GAC	p.G99D		NM_003511	NP_003502	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	99					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0																		---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28227419	28227419	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28227419G>A	uc003nkt.2	+	1	322	c.270G>A	c.(268-270)TCG>TCA	p.S90S	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	90										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	6	29230752	29230752	+	IGR	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29230752C>T								OR2J2 (88402 upstream) : OR14J1 (43715 downstream)																																			---	---	---	---
OR10C1	442194	broad.mit.edu	37	6	29408492	29408492	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29408492C>T	uc011dlp.1	+	1	700	c.700C>T	c.(700-702)CGC>TGC	p.R234C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
BAT1	7919	broad.mit.edu	37	6	31508954	31508954	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31508954G>A	uc003ntt.2	-						BAT1_uc003nts.2_5'Flank|BAT1_uc011dnn.1_Intron|BAT1_uc003ntu.2_Intron|BAT1_uc003ntv.2_Intron|BAT1_uc003ntw.2_5'UTR|BAT1_uc003ntx.2_Intron|BAT1_uc011dno.1_Intron|BAT1_uc011dnp.1_Intron|BAT1_uc011dnq.1_Intron|SNORD84_uc010jsq.1_RNA	NM_004640	NP_004631			HLA-B associated transcript 1						intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0																		---	---	---	---
CLIC1	1192	broad.mit.edu	37	6	31704062	31704062	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31704062G>A	uc003nwr.2	-	1	280	c.16C>T	c.(16-18)CCG>TCG	p.P6S	CLIC1_uc003rje.2_Missense_Mutation_p.P6S	NM_001288	NP_001279	O00299	CLIC1_HUMAN	chloride intracellular channel 1	6	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
NEU1	4758	broad.mit.edu	37	6	31829855	31829855	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31829855G>A	uc003nxq.3	-	2	429	c.273C>T	c.(271-273)CTC>CTT	p.L91L	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Intron|NEU1_uc003nxs.3_Silent_p.L91L	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	91			L -> R (in SIALIDOSIS; type 2).			cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)													---	---	---	---
PRRT1	80863	broad.mit.edu	37	6	32117390	32117390	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32117390T>C	uc003nzt.2	-	3	784	c.668A>G	c.(667-669)TAC>TGC	p.Y223C	PRRT1_uc003nzs.2_Missense_Mutation_p.Y264C|PRRT1_uc003nzu.2_Silent_p.L115L	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	223					response to biotic stimulus	integral to membrane				breast(1)	1																		---	---	---	---
AGPAT1	10554	broad.mit.edu	37	6	32137211	32137211	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32137211G>A	uc003oae.2	-	7	1012	c.694C>T	c.(694-696)CGG>TGG	p.R232W	PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.R196W|AGPAT1_uc003oaf.2_Missense_Mutation_p.R232W|AGPAT1_uc003oag.2_Missense_Mutation_p.R122W|AGPAT1_uc003oah.2_Missense_Mutation_p.R232W|AGPAT1_uc003oai.1_Missense_Mutation_p.R232W|AGPAT1_uc011dpl.1_Missense_Mutation_p.R120W	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	232					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1																		---	---	---	---
TAP2	6891	broad.mit.edu	37	6	32803500	32803500	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32803500C>T	uc003occ.2	-	3	690	c.659G>A	c.(658-660)CGA>CAA	p.R220Q	TAP2_uc011dqf.1_Missense_Mutation_p.R220Q|TAP2_uc003ocb.1_Missense_Mutation_p.R220Q|TAP2_uc003ocd.2_Missense_Mutation_p.R220Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	220	Cytoplasmic (Potential).|ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0																		---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33373357	33373357	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33373357G>T	uc003oef.3	+	7	1935	c.1485G>T	c.(1483-1485)GAG>GAT	p.E495D	KIFC1_uc011drf.1_Missense_Mutation_p.E487D	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	495	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0																		---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33643506	33643506	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33643506G>A	uc011drk.1	+	25	3374	c.3155G>A	c.(3154-3156)GGC>GAC	p.G1052D		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1052	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19																		---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34008452	34008452	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34008452G>A	uc003oir.3	-	6	1412	c.1242C>T	c.(1240-1242)TAC>TAT	p.Y414Y	GRM4_uc011dsn.1_Silent_p.Y367Y|GRM4_uc010jvh.2_Silent_p.Y414Y|GRM4_uc010jvi.2_Silent_p.Y106Y|GRM4_uc003oio.2_Silent_p.Y106Y|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.Y274Y|GRM4_uc003oiq.2_Silent_p.Y281Y|GRM4_uc011dsm.1_Silent_p.Y245Y	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	414	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)													---	---	---	---
GRM4	2914	broad.mit.edu	37	6	34101128	34101128	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34101128A>T	uc003oir.3	-	1	316	c.146T>A	c.(145-147)ATC>AAC	p.I49N	GRM4_uc011dsn.1_Missense_Mutation_p.I49N|GRM4_uc010jvh.2_Missense_Mutation_p.I49N|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_5'UTR	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	49	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)													---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34499507	34499507	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34499507G>A	uc003ojo.2	+	9	1374	c.1168G>A	c.(1168-1170)GTG>ATG	p.V390M	PACSIN1_uc003ojp.2_Missense_Mutation_p.V390M	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	390	SH3.				endocytosis		protein kinase activity				0																		---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34804017	34804017	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34804017C>T	uc003oju.3	+	8	1159	c.925C>T	c.(925-927)CGC>TGC	p.R309C	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	309										ovary(3)	3																		---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34957098	34957098	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34957098A>G	uc003ojx.3	+						ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Intron|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060			ankyrin repeat and sterile alpha motif domain							cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---
PPARD	5467	broad.mit.edu	37	6	35392439	35392439	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35392439C>T	uc003okm.2	+	7	1270	c.961C>T	c.(961-963)CGC>TGC	p.R321C	PPARD_uc003okl.2_Missense_Mutation_p.R321C|PPARD_uc003okn.2_Missense_Mutation_p.R321C|PPARD_uc011dtb.1_Missense_Mutation_p.R282C|PPARD_uc011dtc.1_Missense_Mutation_p.R223C	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	321	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)													---	---	---	---
FKBP5	2289	broad.mit.edu	37	6	35543611	35543611	+	3'UTR	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35543611G>A	uc011dte.1	-	11					FKBP5_uc003okx.2_3'UTR|FKBP5_uc011dtf.1_3'UTR|FKBP5_uc003oky.2_3'UTR	NM_001145776	NP_001139248			FK506 binding protein 5 isoform 1						protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1																		---	---	---	---
ETV7	51513	broad.mit.edu	37	6	36343699	36343699	+	Missense_Mutation	SNP	C	T	T	rs9394345	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36343699C>T	uc003omb.2	-	3	405	c.256G>A	c.(256-258)GCC>ACC	p.A86T	ETV7_uc003olz.1_Missense_Mutation_p.A86T|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Intron|ETV7_uc010jwj.2_Missense_Mutation_p.R13H|ETV7_uc010jwh.2_Missense_Mutation_p.A5T|ETV7_uc010jwi.2_Missense_Mutation_p.A86T|ETV7_uc011dtl.1_Intron	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	86	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---
DAAM2	23500	broad.mit.edu	37	6	39824082	39824082	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39824082G>A	uc003oow.2	+	2	160	c.4G>A	c.(4-6)GCC>ACC	p.A2T	DAAM2_uc010jxc.2_Missense_Mutation_p.A2T|DAAM2_uc003oox.2_Missense_Mutation_p.A2T|DAAM2_uc003oov.3_Missense_Mutation_p.A2T|DAAM2_uc003ooy.3_Missense_Mutation_p.A2T	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	2					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)																	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40360464	40360464	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:40360464G>A	uc003oph.1	-	3	2053	c.1588C>T	c.(1588-1590)CTG>TTG	p.L530L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	530	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---
FOXP4	116113	broad.mit.edu	37	6	41533495	41533495	+	5'UTR	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41533495C>T	uc003oql.2	+	2					FOXP4_uc003oqm.2_5'UTR|FOXP4_uc003oqn.2_5'UTR	NM_001012426	NP_001012426			forkhead box P4 isoform 1						embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)																	---	---	---	---
FOXP4	116113	broad.mit.edu	37	6	41533592	41533592	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41533592G>A	uc003oql.2	+	2	552	c.94G>A	c.(94-96)GGC>AGC	p.G32S	FOXP4_uc003oqm.2_Missense_Mutation_p.G32S|FOXP4_uc003oqn.2_Missense_Mutation_p.G32S	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	32					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)																	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41613956	41613956	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41613956G>A	uc003oqp.3	+	4	498	c.169G>A	c.(169-171)GCG>ACG	p.A57T	MDFI_uc003oqq.3_Missense_Mutation_p.A57T|MDFI_uc010jxn.2_Missense_Mutation_p.A57T	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	57					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)															---	---	---	---
USP49	25862	broad.mit.edu	37	6	41773695	41773695	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41773695C>A	uc003ori.2	-	4	1249	c.1027G>T	c.(1027-1029)GAG>TAG	p.E343*		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	343					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42227276	42227276	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42227276C>T	uc003osd.2	-	9	2633	c.2070G>A	c.(2068-2070)CCG>CCA	p.P690P	TRERF1_uc011duq.1_Silent_p.P607P|TRERF1_uc003osb.2_Silent_p.P446P|TRERF1_uc003osc.2_Silent_p.P446P|TRERF1_uc003ose.2_Silent_p.P710P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	690	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---
CUL7	9820	broad.mit.edu	37	6	43010580	43010580	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43010580G>A	uc003otq.2	-	19	3908	c.3605C>T	c.(3604-3606)GCG>GTG	p.A1202V	CUL7_uc010jyg.2_Missense_Mutation_p.A481V|CUL7_uc011dvb.1_Missense_Mutation_p.A1286V|CUL7_uc010jyh.2_Missense_Mutation_p.A195V|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1202					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43222808	43222808	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43222808C>T	uc003ouq.1	+	7	877	c.598C>T	c.(598-600)CGA>TGA	p.R200*		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	200	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)															---	---	---	---
RSPH9	221421	broad.mit.edu	37	6	43612906	43612906	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43612906G>A	uc003ovw.1	+	1	97	c.71G>A	c.(70-72)CGT>CAT	p.R24H	RSPH9_uc003ovx.1_Missense_Mutation_p.R24H	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog	24					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				upper_aerodigestive_tract(1)|skin(1)	2														Kartagener_syndrome				---	---	---	---
SLC29A1	2030	broad.mit.edu	37	6	44198398	44198398	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44198398G>A	uc003owu.1	+	7	1012	c.683G>A	c.(682-684)CGC>CAC	p.R228H	SLC29A1_uc003owv.1_Missense_Mutation_p.R228H|SLC29A1_uc003oww.1_Missense_Mutation_p.R307H|SLC29A1_uc003owx.1_Missense_Mutation_p.R228H|SLC29A1_uc003owy.1_Missense_Mutation_p.R228H|SLC29A1_uc003owz.1_Missense_Mutation_p.R228H	NM_004955	NP_004946	Q99808	S29A1_HUMAN	equilibrative nucleoside transporter 1	228	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			large_intestine(2)|skin(1)	3	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)													---	---	---	---
CRISP1	167	broad.mit.edu	37	6	49825053	49825053	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49825053T>C	uc003ozw.2	-	2	140	c.61A>G	c.(61-63)ATG>GTG	p.M21V	CRISP1_uc003ozx.2_Missense_Mutation_p.M21V	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	21					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51892954	51892954	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51892954C>T	uc003pah.1	-	30	3836	c.3560G>A	c.(3559-3561)GGG>GAG	p.G1187E	PKHD1_uc003pai.2_Missense_Mutation_p.G1187E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1187	Extracellular (Potential).|IPT/TIG 6; atypical.				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)																	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52883237	52883237	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52883237G>A	uc003pbh.2	-	8	1044	c.554C>T	c.(553-555)GCG>GTG	p.A185V	ICK_uc003pbi.2_Missense_Mutation_p.A185V|ICK_uc003pbj.2_Missense_Mutation_p.A185V	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	185	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.A185A(1)		ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)																	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56047377	56047377	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56047377G>A	uc003pcs.2	-	2	272	c.40C>T	c.(40-42)CTG>TTG	p.L14L	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Silent_p.L14L|COL21A1_uc003pcu.1_Silent_p.L14L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	14					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)															---	---	---	---
DST	667	broad.mit.edu	37	6	56382024	56382024	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56382024C>T	uc003pdf.2	-	65	12000	c.11972G>A	c.(11971-11973)TGC>TAC	p.C3991Y	DST_uc003pcz.3_Missense_Mutation_p.C3813Y|DST_uc011dxj.1_Missense_Mutation_p.C3842Y|DST_uc011dxk.1_Missense_Mutation_p.C3853Y|DST_uc003pcy.3_Missense_Mutation_p.C3487Y	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5899	Spectrin 10.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56489995	56489995	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56489995C>T	uc003pdf.2	-	34	4719	c.4691G>A	c.(4690-4692)CGC>CAC	p.R1564H	DST_uc003pcz.3_Missense_Mutation_p.R1386H|DST_uc011dxj.1_Missense_Mutation_p.R1415H|DST_uc011dxk.1_Missense_Mutation_p.R1426H|DST_uc003pcy.3_Missense_Mutation_p.R1060H|DST_uc003pdb.2_Missense_Mutation_p.R1060H|DST_uc003pdc.3_Missense_Mutation_p.R1060H|DST_uc003pdd.3_Missense_Mutation_p.R1060H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	1386	Nuclear localization signal; in isoform 6 (By similarity).				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56501366	56501366	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56501366C>T	uc003pdf.2	-	22	2978	c.2950G>A	c.(2950-2952)GCG>ACG	p.A984T	DST_uc003pcz.3_Missense_Mutation_p.A806T|DST_uc011dxj.1_Missense_Mutation_p.A835T|DST_uc011dxk.1_Missense_Mutation_p.A846T|DST_uc003pcy.3_Missense_Mutation_p.A480T|DST_uc003pdb.2_Missense_Mutation_p.A480T|DST_uc003pdc.3_Missense_Mutation_p.A480T|DST_uc003pdd.3_Missense_Mutation_p.A480T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	806					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56917509	56917509	+	Missense_Mutation	SNP	G	A	A	rs147392367		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56917509G>A	uc003pdj.2	+	4	382	c.212G>A	c.(211-213)CGA>CAA	p.R71Q	KIAA1586_uc011dxm.1_Missense_Mutation_p.R44Q	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	71							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)															---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70944498	70944498	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70944498G>A	uc003pfg.3	-	34	2417	c.2258C>T	c.(2257-2259)CCG>CTG	p.P753L	COL9A1_uc003pfe.3_Missense_Mutation_p.P302L|COL9A1_uc003pff.3_Missense_Mutation_p.P510L	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	753	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4																		---	---	---	---
OGFRL1	79627	broad.mit.edu	37	6	72011140	72011140	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72011140G>A	uc003pfx.1	+	7	907	c.744G>A	c.(742-744)GAG>GAA	p.E248E		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	248						membrane	receptor activity				0																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75875263	75875263	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75875263A>G	uc003phs.2	-	14	3109	c.2943T>C	c.(2941-2943)AGT>AGC	p.S981S	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	981	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9																		---	---	---	---
TMEM30A	55754	broad.mit.edu	37	6	75968604	75968604	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75968604G>A	uc003phw.2	-	6	1062	c.784C>T	c.(784-786)CGT>TGT	p.R262C	TMEM30A_uc003phx.2_Missense_Mutation_p.R226C	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	transmembrane protein 30A isoform 1	262						integral to membrane					0																		---	---	---	---
SENP6	26054	broad.mit.edu	37	6	76425219	76425219	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76425219G>T	uc003pid.3	+	24	3867	c.3248G>T	c.(3247-3249)AGC>ATC	p.S1083I	SENP6_uc003pie.3_Missense_Mutation_p.S1076I|SENP6_uc010kbf.2_RNA	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	1083	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)																---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76623846	76623846	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76623846G>A	uc003pih.1	+	34	3785	c.3506G>A	c.(3505-3507)CGC>CAC	p.R1169H	MYO6_uc003pii.1_Missense_Mutation_p.R1146H|MYO6_uc003pij.1_Missense_Mutation_p.R117H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1178					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)														---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76624589	76624589	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76624589C>T	uc003pih.1	+	35	3997	c.3718C>T	c.(3718-3720)CGT>TGT	p.R1240C	MYO6_uc003pii.1_Missense_Mutation_p.R1217C|MYO6_uc003pij.1_Missense_Mutation_p.R188C	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1249					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)														---	---	---	---
IBTK	25998	broad.mit.edu	37	6	82933262	82933262	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:82933262A>C	uc003pjl.1	-	8	1546	c.1019T>G	c.(1018-1020)ATT>AGT	p.I340S	IBTK_uc011dyv.1_Missense_Mutation_p.I340S|IBTK_uc011dyw.1_Missense_Mutation_p.I340S|IBTK_uc010kbi.1_Missense_Mutation_p.I34S|IBTK_uc003pjm.2_Missense_Mutation_p.I340S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	340					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)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83810413	83810413	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83810413C>T	uc003pjs.1	+						DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron	NM_015018	NP_055833			dopey family member 1						protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88136278	88136278	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88136278T>C	uc003plv.2	+	8	967	c.875T>C	c.(874-876)ATG>ACG	p.M292T	C6orf165_uc003plw.2_Missense_Mutation_p.M104T|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.M292T	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	292										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)														---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88854388	88854388	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88854388G>T	uc011dzq.1	-	2	4169	c.606C>A	c.(604-606)GCC>GCA	p.A202A	CNR1_uc010kbz.2_Silent_p.A202A|CNR1_uc011dzr.1_Silent_p.A202A|CNR1_uc011dzs.1_Silent_p.A202A|CNR1_uc003pmq.3_Silent_p.A202A|CNR1_uc011dzt.1_Silent_p.A202A|CNR1_uc010kca.2_Silent_p.A169A	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	202	Helical; Name=3; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)													---	---	---	---
USP45	85015	broad.mit.edu	37	6	99956514	99956514	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99956514A>C	uc003ppx.2	-	3	778	c.245T>G	c.(244-246)ATT>AGT	p.I82S	USP45_uc003ppw.2_5'UTR|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.I82S|USP45_uc003ppz.2_Missense_Mutation_p.I82S|USP45_uc003pqa.2_Missense_Mutation_p.I82S	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	82	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)														---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100838779	100838779	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100838779C>T	uc003pqj.3	-	11	1966	c.1759G>A	c.(1759-1761)GCC>ACC	p.A587T	SIM1_uc010kcu.2_Missense_Mutation_p.A587T	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	587	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101037604	101037604	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101037604G>A	uc003pqk.2	-	36	5785	c.5456C>T	c.(5455-5457)GCC>GTC	p.A1819V		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1819	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101315870	101315870	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101315870C>A	uc003pqk.2	-	2	333	c.4G>T	c.(4-6)GCT>TCT	p.A2S	ASCC3_uc011eai.1_5'UTR|ASCC3_uc003pql.2_Missense_Mutation_p.A2S|ASCC3_uc010kcv.2_Missense_Mutation_p.A2S|ASCC3_uc003pqm.2_Missense_Mutation_p.A2S	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102134236	102134236	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:102134236T>C	uc003pqp.3	+						GRIK2_uc003pqn.2_Intron|GRIK2_uc003pqo.3_Intron|GRIK2_uc010kcw.2_Intron	NM_021956	NP_068775			glutamate receptor, ionotropic, kainate 2						glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)													---	---	---	---
BVES	11149	broad.mit.edu	37	6	105577385	105577385	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105577385A>G	uc003pqw.2	-						BVES_uc003pqx.2_Intron|BVES_uc003pqy.2_Intron	NM_147147	NP_671488			blood vessel epicardial substance isoform 5						epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)																---	---	---	---
BEND3	57673	broad.mit.edu	37	6	107390422	107390422	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107390422C>T	uc003prs.2	-	5	2623	c.1973G>A	c.(1972-1974)CGC>CAC	p.R658H		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	658										ovary(3)	3																		---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107908293	107908293	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107908293G>T	uc003prx.2	+	5	1087	c.583G>T	c.(583-585)GAA>TAA	p.E195*	SOBP_uc003prw.1_Nonsense_Mutation_p.E195*	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	195							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)														---	---	---	---
SLC16A10	117247	broad.mit.edu	37	6	111498462	111498462	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111498462G>T	uc003pus.2	+	3	711	c.536G>T	c.(535-537)GGC>GTC	p.G179V	SLC16A10_uc003pur.3_Missense_Mutation_p.G179V|SLC16A10_uc003put.2_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	179	Helical; (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)														---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112471841	112471841	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112471841C>T	uc003pvu.2	-						LAMA4_uc003pvv.2_Intron|LAMA4_uc003pvt.2_Intron	NM_001105206	NP_001098676			laminin, alpha 4 isoform 1 precursor						cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)														---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117706978	117706978	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117706978G>A	uc003pxp.1	-	15	2371	c.2172C>T	c.(2170-2172)GGC>GGT	p.G724G	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	724	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---
DCBLD1	285761	broad.mit.edu	37	6	117860470	117860470	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117860470T>C	uc003pxs.2	+	9	1154	c.1029T>C	c.(1027-1029)AGT>AGC	p.S343S	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.S343S|DCBLD1_uc003pxt.1_5'UTR	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	343	F5/8 type C.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)														---	---	---	---
C6orf170	221322	broad.mit.edu	37	6	121412168	121412168	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121412168G>A	uc003pyo.1	-	31	3553	c.3485C>T	c.(3484-3486)ACC>ATC	p.T1162I		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	1162	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)														---	---	---	---
HSF2	3298	broad.mit.edu	37	6	122743435	122743435	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:122743435T>C	uc003pyu.2	+	8	1009	c.822T>C	c.(820-822)GAT>GAC	p.D274D	HSF2_uc003pyv.2_Silent_p.D274D	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	274					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127796999	127796999	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127796999G>A	uc003qbd.2	-	6	3037	c.2172C>T	c.(2170-2172)TAC>TAT	p.Y724Y	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	724	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128297891	128297891	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128297891G>A	uc003qbk.2	-	27	4244	c.3877C>T	c.(3877-3879)CGA>TGA	p.R1293*	PTPRK_uc003qbj.2_Nonsense_Mutation_p.R1294*|PTPRK_uc010kfc.2_Nonsense_Mutation_p.R1300*|PTPRK_uc011ebu.1_Nonsense_Mutation_p.R1316*	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1293	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131914253	131914253	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131914253A>T	uc003qcs.1	-	24	3465	c.3291T>A	c.(3289-3291)TTT>TTA	p.F1097L	MED23_uc003qcq.2_Missense_Mutation_p.F1103L|MED23_uc003qcr.1_5'UTR	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1097					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138601240	138601240	+	Silent	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138601240A>C	uc003qhu.2	+	14	2400	c.2400A>C	c.(2398-2400)GGA>GGC	p.G800G		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	800					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)														---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138632618	138632618	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138632618G>A	uc003qhu.2	+	25	4171	c.4171G>A	c.(4171-4173)GCC>ACC	p.A1391T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1391					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)														---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148865429	148865429	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148865429C>T	uc003qme.1	+	18	3298	c.2823C>T	c.(2821-2823)CAC>CAT	p.H941H	SASH1_uc011eeb.1_Silent_p.H702H|SASH1_uc003qmf.1_Silent_p.H351H	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	941							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)														---	---	---	---
UST	10090	broad.mit.edu	37	6	149342593	149342593	+	Missense_Mutation	SNP	G	A	A	rs141035429		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149342593G>A	uc003qmg.2	+	7	1209	c.913G>A	c.(913-915)GTG>ATG	p.V305M		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	305	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)														---	---	---	---
C6orf97	80129	broad.mit.edu	37	6	151869460	151869460	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151869460A>G	uc003qol.2	+	5	699	c.610A>G	c.(610-612)AAT>GAT	p.N204D		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	204	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)														---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155776222	155776222	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155776222C>T	uc003qqm.2	-	2	193	c.90G>A	c.(88-90)ACG>ACA	p.T30T		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	30	Helical; (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157522175	157522175	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157522175G>T	uc003qqn.2	+	18	4545	c.4393G>T	c.(4393-4395)GGC>TGC	p.G1465C	ARID1B_uc003qqo.2_Missense_Mutation_p.G1425C|ARID1B_uc003qqp.2_Missense_Mutation_p.G1412C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1470	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
ZDHHC14	79683	broad.mit.edu	37	6	157803268	157803268	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157803268T>G	uc003qqt.2	+	1	712	c.215T>G	c.(214-216)CTG>CGG	p.L72R	ZDHHC14_uc003qqs.2_Missense_Mutation_p.L72R	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	72	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)														---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158449969	158449969	+	Silent	SNP	A	G	G	rs140060886		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158449969A>G	uc003qqx.1	+	3	471	c.396A>G	c.(394-396)TCA>TCG	p.S132S	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Silent_p.S132S|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Silent_p.S81S|SYNJ2_uc010kjo.1_Silent_p.S81S	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	132	SAC.						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)														---	---	---	---
LPA	4018	broad.mit.edu	37	6	161014990	161014990	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161014990C>T	uc003qtl.2	-	23	3749	c.3629G>A	c.(3628-3630)GGT>GAT	p.G1210D		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3718	Kringle 33.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)													---	---	---	---
PLG	5340	broad.mit.edu	37	6	161134156	161134156	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161134156A>C	uc003qtm.3	+	5	609	c.546A>C	c.(544-546)GAA>GAC	p.E182D		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	182					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)													---	---	---	---
PLG	5340	broad.mit.edu	37	6	161159605	161159605	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161159605C>T	uc003qtm.3	+	15	1901	c.1838C>T	c.(1837-1839)TCC>TTC	p.S613F		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	613	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)													---	---	---	---
QKI	9444	broad.mit.edu	37	6	163956101	163956101	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:163956101G>A	uc003qui.2	+	4	1041	c.490G>A	c.(490-492)GCA>ACA	p.A164T	QKI_uc003que.2_Missense_Mutation_p.A164T|QKI_uc003quf.2_Missense_Mutation_p.A164T|QKI_uc003qug.2_Missense_Mutation_p.A164T|QKI_uc003quh.2_Missense_Mutation_p.A164T|QKI_uc003quj.2_Missense_Mutation_p.A164T	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	164					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)														---	---	---	---
QKI	9444	broad.mit.edu	37	6	163984455	163984455	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:163984455C>G	uc003qui.2	+	6	1189	c.638C>G	c.(637-639)GCC>GGC	p.A213G	QKI_uc003que.2_Missense_Mutation_p.A213G|QKI_uc003quf.2_Missense_Mutation_p.A213G|QKI_uc003qug.2_Missense_Mutation_p.A213G|QKI_uc003quh.2_Intron|QKI_uc003quj.2_Intron	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	213					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)														---	---	---	---
QKI	9444	broad.mit.edu	37	6	163987788	163987788	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:163987788C>T	uc003qui.2	+	7	1521	c.970C>T	c.(970-972)CGT>TGT	p.R324C	QKI_uc003que.2_3'UTR|QKI_uc003quf.2_3'UTR|QKI_uc003qug.2_3'UTR|QKI_uc003quh.2_3'UTR|QKI_uc003quj.2_Missense_Mutation_p.R316C	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	324	Nuclear localization signal (By similarity).				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)														---	---	---	---
T	6862	broad.mit.edu	37	6	166571818	166571818	+	Silent	SNP	C	T	T	rs140876874		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166571818C>T	uc003quu.1	-	9	1786	c.1293G>A	c.(1291-1293)TCG>TCA	p.S431S	T_uc003qut.1_Silent_p.S432S|T_uc003quv.1_Silent_p.S373S	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	431					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)										Chordoma_Familial_Clustering_of				---	---	---	---
RNASET2	8635	broad.mit.edu	37	6	167352465	167352465	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167352465C>T	uc003qve.2	-	6	771	c.364G>A	c.(364-366)GCC>ACC	p.A122T	RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_Missense_Mutation_p.A30T|RNASET2_uc003qvg.2_Missense_Mutation_p.A59T|RNASET2_uc003qvi.1_Silent_p.A9A	NM_003730	NP_003721	O00584	RNT2_HUMAN	ribonuclease T2 precursor	122					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)														---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	168949813	168949813	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168949813T>C	uc003qws.1	+	7	587	c.567T>C	c.(565-567)ATT>ATC	p.I189I	SMOC2_uc003qwr.1_Silent_p.I200I	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	189					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
C6orf70	55780	broad.mit.edu	37	6	170175448	170175448	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170175448T>C	uc003qxg.1	+						C6orf70_uc011ehb.1_Intron|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Intron	NM_018341	NP_060811			hypothetical protein LOC55780							integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)														---	---	---	---
DLL1	28514	broad.mit.edu	37	6	170597466	170597466	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170597466G>A	uc003qxm.2	-	4	1001	c.531C>T	c.(529-531)TTC>TTT	p.F177F	DLL1_uc011ehc.1_Silent_p.F177F	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	177	Extracellular (Potential).|DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)														---	---	---	---
SUN1	23353	broad.mit.edu	37	7	881705	881705	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:881705G>A	uc011jvp.1	+	4	468	c.389G>A	c.(388-390)CGA>CAA	p.R130Q	SUN1_uc010ksa.1_Missense_Mutation_p.R151Q|SUN1_uc003sje.1_Missense_Mutation_p.R130Q|SUN1_uc003sjf.2_Missense_Mutation_p.R80Q|SUN1_uc011jvq.1_Missense_Mutation_p.R130Q|SUN1_uc003sjg.2_5'Flank	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	130	Nuclear.|LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0																		---	---	---	---
FTSJ2	29960	broad.mit.edu	37	7	2279097	2279097	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2279097G>A	uc003slm.2	-	2	283	c.254C>T	c.(253-255)GCC>GTC	p.A85V	FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	85	S-adenosyl-L-methionine binding.				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)														---	---	---	---
C7orf27	221927	broad.mit.edu	37	7	2594050	2594050	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2594050C>T	uc003smi.2	-	2	58	c.16G>A	c.(16-18)GCC>ACC	p.A6T	C7orf27_uc003smj.1_Missense_Mutation_p.A6T	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	6					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)														---	---	---	---
ACTB	60	broad.mit.edu	37	7	5567738	5567738	+	Missense_Mutation	SNP	T	C	C	rs11546937		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5567738T>C	uc003sos.3	-	4	917	c.881A>G	c.(880-882)TAC>TGC	p.Y294C	ACTB_uc003sor.3_Missense_Mutation_p.Y172C|ACTB_uc003sot.3_Missense_Mutation_p.Y294C|ACTB_uc003soq.3_Missense_Mutation_p.Y172C|ACTB_uc010ksy.2_Missense_Mutation_p.Y172C	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	294					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)														---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6037037	6037037	+	Silent	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6037037A>C	uc003spl.2	-	7	810	c.723T>G	c.(721-723)CCT>CCG	p.P241P	PMS2_uc003spj.2_Silent_p.P135P|PMS2_uc003spk.2_Silent_p.P106P|PMS2_uc011jwl.1_Silent_p.P106P|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Silent_p.P241P|PMS2_uc010ktf.1_Silent_p.P241P	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	241					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)				Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
CYTH3	9265	broad.mit.edu	37	7	6210912	6210912	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6210912C>T	uc003spt.2	-	7	587	c.483G>A	c.(481-483)GAG>GAA	p.E161E	CYTH3_uc011jws.1_Silent_p.E76E	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	161	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0																		---	---	---	---
KLHL7	55975	broad.mit.edu	37	7	23164385	23164385	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23164385T>C	uc003svs.3	+	3	595	c.302T>C	c.(301-303)TTT>TCT	p.F101S	KLHL7_uc003svr.3_Missense_Mutation_p.F79S|KLHL7_uc011jys.1_Missense_Mutation_p.F25S|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.F53S|KLHL7_uc003svp.2_Missense_Mutation_p.F79S|KLHL7_uc003svq.2_Missense_Mutation_p.F101S|KLHL7_uc011jyu.1_Missense_Mutation_p.F79S	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	101	BTB.					Golgi apparatus|nucleolus|plasma membrane					0																		---	---	---	---
TRA2A	29896	broad.mit.edu	37	7	23547109	23547109	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23547109G>A	uc003swi.2	-	5	785	c.571C>T	c.(571-573)CGG>TGG	p.R191W	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R90W|TRA2A_uc011jzd.1_Missense_Mutation_p.R90W	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	191	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
DFNA5	1687	broad.mit.edu	37	7	24738827	24738827	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:24738827T>G	uc010kus.1	-	10	1397	c.1309A>C	c.(1309-1311)ACT>CCT	p.T437P	DFNA5_uc003swz.2_Missense_Mutation_p.T273P|DFNA5_uc003sxa.1_Missense_Mutation_p.T437P|DFNA5_uc010kut.1_Missense_Mutation_p.T273P	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	437					sensory perception of sound					ovary(1)	1																		---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135386	27135386	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27135386C>T	uc003sye.2	-	1	240	c.146G>A	c.(145-147)GGC>GAC	p.G49D	HOXA1_uc003syd.2_Missense_Mutation_p.G49D|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	49						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3																OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
INMT	11185	broad.mit.edu	37	7	30795381	30795381	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30795381C>A	uc003tbs.1	+	3	722	c.706C>A	c.(706-708)CTA>ATA	p.L236I	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.L235I	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	236						cytoplasm	amine N-methyltransferase activity				0																		---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014222	33014222	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33014222C>A	uc003tdh.2	+						AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_Intron|FKBP9_uc011kal.1_Intron|FKBP9_uc003tdg.2_Intron|FKBP9_uc010kwm.2_5'UTR	NM_007270	NP_009201			FK506 binding protein 9 precursor						protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)															---	---	---	---
RP9	6100	broad.mit.edu	37	7	33136929	33136929	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33136929C>T	uc003tdm.2	-	4	377	c.359G>A	c.(358-360)TGC>TAC	p.C120Y		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9	120	PIM1-binding (By similarity).|CCHC-type.				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding				0			GBM - Glioblastoma multiforme(11;0.0403)															---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33296948	33296948	+	Silent	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33296948T>G	uc003tdn.1	+	6	1056	c.543T>G	c.(541-543)CCT>CCG	p.P181P	BBS9_uc003tdo.1_Silent_p.P181P|BBS9_uc003tdp.1_Silent_p.P181P|BBS9_uc003tdq.1_Silent_p.P181P|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Silent_p.P181P|BBS9_uc011kao.1_Silent_p.P59P	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	181					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)											Bardet-Biedl_syndrome				---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33397489	33397489	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33397489T>C	uc003tdn.1	+	16	2088	c.1575T>C	c.(1573-1575)TGT>TGC	p.C525C	BBS9_uc003tdo.1_Silent_p.C490C|BBS9_uc003tdp.1_Silent_p.C520C|BBS9_uc003tdq.1_Silent_p.C485C|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.C49C|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Silent_p.C403C	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	525					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)											Bardet-Biedl_syndrome				---	---	---	---
NPSR1	387129	broad.mit.edu	37	7	34917721	34917721	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:34917721G>A	uc003tei.1	+	9	1187	c.1059G>A	c.(1057-1059)GCG>GCA	p.A353A	NPSR1_uc010kww.1_Silent_p.A342A|NPSR1_uc011kar.1_Silent_p.A287A	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	Error:Variant_position_missing_in_Q6W5P4_after_alignment						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)													---	---	---	---
ANLN	54443	broad.mit.edu	37	7	36447555	36447555	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36447555T>C	uc003tff.2	+	5	1290	c.1086T>C	c.(1084-1086)TCT>TCC	p.S362S	ANLN_uc011kaz.1_Silent_p.S274S|ANLN_uc003tfg.2_Silent_p.S362S|ANLN_uc010kxe.2_Silent_p.S362S	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	362	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3																		---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41729889	41729889	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:41729889G>A	uc003thq.2	-	2	875	c.640C>T	c.(640-642)CGG>TGG	p.R214W	INHBA_uc003thr.2_Missense_Mutation_p.R214W	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	214					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6															TSP Lung(11;0.080)			---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42085063	42085063	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42085063C>T	uc011kbh.1	-	6	837	c.746G>A	c.(745-747)AGC>AAC	p.S249N	GLI3_uc011kbg.1_Missense_Mutation_p.S190N	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	249					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19														Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				---	---	---	---
C7orf25	79020	broad.mit.edu	37	7	42950002	42950002	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42950002G>A	uc003thw.2	-	2	962	c.498C>T	c.(496-498)ATC>ATT	p.I166I	C7orf25_uc010kxq.2_Silent_p.I166I|C7orf25_uc003thx.3_Silent_p.I224I|C7orf25_uc010kxr.2_Silent_p.I224I	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	166										skin(1)	1																		---	---	---	---
C7orf44	55744	broad.mit.edu	37	7	43684886	43684886	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43684886G>A	uc003tin.1	-	4	322	c.228C>T	c.(226-228)ATC>ATT	p.I76I	C7orf44_uc003til.2_RNA|C7orf44_uc003tii.2_RNA|C7orf44_uc003tij.2_RNA|C7orf44_uc010kxu.1_RNA|C7orf44_uc003tik.2_RNA|C7orf44_uc003tim.1_RNA|C7orf44_uc003tio.1_Silent_p.I76I|C7orf44_uc003tiq.1_Silent_p.I76I|C7orf44_uc003tip.1_Silent_p.I76I	NM_018224	NP_060694	Q9GZY4	CG044_HUMAN	hypothetical protein LOC55744	76						integral to membrane				ovary(1)	1																		---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44579262	44579262	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44579262T>G	uc003tlb.2	-	2	790	c.734A>C	c.(733-735)GAG>GCG	p.E245A	NPC1L1_uc003tlc.2_Missense_Mutation_p.E245A|NPC1L1_uc011kbw.1_Missense_Mutation_p.E245A|NPC1L1_uc003tld.2_Missense_Mutation_p.E245A	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	245	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)													---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44579700	44579700	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44579700A>G	uc003tlb.2	-	2	352	c.296T>C	c.(295-297)CTG>CCG	p.L99P	NPC1L1_uc003tlc.2_Missense_Mutation_p.L99P|NPC1L1_uc011kbw.1_Missense_Mutation_p.L99P|NPC1L1_uc003tld.2_Missense_Mutation_p.L99P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	99	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)													---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47408881	47408881	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47408881G>T	uc003tnv.2	-	17	1729	c.1362C>A	c.(1360-1362)ACC>ACA	p.T454T	TNS3_uc003tnw.2_Silent_p.T454T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	454						focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48319362	48319362	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48319362C>T	uc003toq.2	+	18	8596	c.8571C>T	c.(8569-8571)ACC>ACT	p.T2857T	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2857					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
COBL	23242	broad.mit.edu	37	7	51096683	51096683	+	Missense_Mutation	SNP	C	T	T	rs148062130		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:51096683C>T	uc003tpr.3	-	10	2295	c.2110G>A	c.(2110-2112)GGC>AGC	p.G704S	COBL_uc003tps.2_Missense_Mutation_p.G761S|COBL_uc011kcl.1_Missense_Mutation_p.G704S|COBL_uc003tpp.3_Missense_Mutation_p.G490S|COBL_uc003tpq.3_Missense_Mutation_p.G645S|COBL_uc003tpo.3_Missense_Mutation_p.G246S	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	704										skin(3)|ovary(2)	5	Glioma(55;0.08)																	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53104026	53104026	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:53104026G>T	uc003tpz.2	+	1	678	c.662G>T	c.(661-663)AGC>ATC	p.S221I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	221											0																		---	---	---	---
PHKG1	5260	broad.mit.edu	37	7	56148844	56148844	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56148844C>T	uc003trz.1	-	10	1262	c.1067G>A	c.(1066-1068)GGC>GAC	p.G356D	PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Missense_Mutation_p.G250D|PHKG1_uc011kdb.1_Missense_Mutation_p.G388D|PHKG1_uc011kdc.1_Missense_Mutation_p.G347D|PHKG1_uc011kdd.1_Missense_Mutation_p.G302D	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	phosphorylase kinase gamma subunit 1	356	Calmodulin-binding (domain-C).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			large_intestine(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70255700	70255700	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70255700G>A	uc003tvw.3	+	19	4241	c.3498G>A	c.(3496-3498)CGG>CGA	p.R1166R	AUTS2_uc003tvx.3_Silent_p.R1142R|AUTS2_uc011keg.1_Silent_p.R618R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1166	His-rich.									ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)														---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72884801	72884801	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72884801C>T	uc003tyc.2	-	8	2951	c.2606G>A	c.(2605-2607)CGC>CAC	p.R869H		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	869	Potential.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---
MLXIPL	51085	broad.mit.edu	37	7	73009996	73009996	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73009996G>A	uc003tyn.1	-	15	2329	c.2281C>T	c.(2281-2283)CGT>TGT	p.R761C	MLXIPL_uc003tyj.1_Missense_Mutation_p.R140C|MLXIPL_uc003tyk.1_Missense_Mutation_p.R740C|MLXIPL_uc003tyl.1_Missense_Mutation_p.R759C|MLXIPL_uc003tym.1_Missense_Mutation_p.R742C|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R667C	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	761					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---
RHBDD2	57414	broad.mit.edu	37	7	75517524	75517524	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75517524A>G	uc003udw.1	+	4	1036	c.952A>G	c.(952-954)AGT>GGT	p.S318G	RHBDD2_uc003udv.1_Missense_Mutation_p.S177G	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	318						integral to membrane	serine-type endopeptidase activity				0																		---	---	---	---
HGF	3082	broad.mit.edu	37	7	81346622	81346622	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81346622T>C	uc003uhl.2	-	11	1496	c.1331A>G	c.(1330-1332)GAT>GGT	p.D444G	HGF_uc003uhm.2_Missense_Mutation_p.D439G	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	444	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4																		---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81588629	81588629	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81588629G>A	uc003uhr.1	-	38	3377	c.3121C>T	c.(3121-3123)CGA>TGA	p.R1041*	CACNA2D1_uc011kgy.1_Nonsense_Mutation_p.R253*	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	1053	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)													---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83277848	83277848	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83277848G>A	uc003uhy.1	-	1	477	c.11C>T	c.(10-12)GCG>GTG	p.A4V		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	4					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)																---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87073078	87073078	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87073078A>G	uc003uiv.1	-	11	1207	c.1131T>C	c.(1129-1131)ATT>ATC	p.I377I	ABCB4_uc003uiw.1_Silent_p.I377I|ABCB4_uc003uix.1_Silent_p.I377I	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	377	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)																	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963047	88963047	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88963047T>C	uc011khi.1	+	4	1289	c.751T>C	c.(751-753)TCA>CCA	p.S251P		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	251						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88964676	88964676	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88964676G>T	uc011khi.1	+	4	2918	c.2380G>T	c.(2380-2382)GAA>TAA	p.E794*		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	794						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92028112	92028112	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92028112A>C	uc003ulw.2	+	20	3495	c.3119A>C	c.(3118-3120)AAT>ACT	p.N1040T	ANKIB1_uc010lew.1_Missense_Mutation_p.N309T	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	1040							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)															---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92132521	92132521	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92132521C>T	uc003uly.2	-						PEX1_uc011khr.1_Intron|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_Intron	NM_000466	NP_000457			peroxin1						microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)															---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97861206	97861206	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97861206G>A	uc003upg.2	-	13	2089	c.1884C>T	c.(1882-1884)GAC>GAT	p.D628D	TECPR1_uc003uph.1_Silent_p.D558D	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	628	PH.					integral to membrane	protein binding			pancreas(1)	1																		---	---	---	---
BAIAP2L1	55971	broad.mit.edu	37	7	97944910	97944910	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97944910A>G	uc003upj.2	-	7	764	c.501T>C	c.(499-501)GTT>GTC	p.V167V		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	167	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TMEM130	222865	broad.mit.edu	37	7	98453803	98453803	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98453803G>A	uc003upo.2	-	4	744	c.555C>T	c.(553-555)ACC>ACT	p.T185T	TMEM130_uc011kiq.1_Silent_p.T166T|TMEM130_uc011kir.1_Silent_p.T185T|TMEM130_uc003upn.2_Silent_p.T83T	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	185	Extracellular (Potential).|PKD.					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98609946	98609946	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98609946C>T	uc003upp.2	+	72	11757	c.11548C>T	c.(11548-11550)CGC>TGC	p.R3850C	TRRAP_uc011kis.1_Missense_Mutation_p.R3821C|TRRAP_uc003upr.2_Missense_Mutation_p.R3556C|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3850	FATC.				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)															---	---	---	---
ZNF394	84124	broad.mit.edu	37	7	99091496	99091496	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99091496C>A	uc003uqs.2	-	3	1503	c.1342G>T	c.(1342-1344)GGG>TGG	p.G448W	ZNF394_uc003uqt.2_Missense_Mutation_p.G241W	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	448	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)																	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99913460A>G	uc003uug.1	+	2	363	c.123A>G	c.(121-123)TCA>TCG	p.S41S		NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	418											0																		---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99917282	99917282	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99917282C>T	uc003uug.1	+	4	550	c.310C>T	c.(310-312)CGC>TGC	p.R104C	uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	481											0																		---	---	---	---
GNB2	2783	broad.mit.edu	37	7	100276081	100276081	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100276081G>A	uc003uwb.2	+	9	1033	c.760G>A	c.(760-762)GAC>AAC	p.D254N	GNB2_uc003uwc.2_Missense_Mutation_p.D210N|GNB2_uc010lhd.2_Missense_Mutation_p.D210N|GNB2_uc010lhe.2_Missense_Mutation_p.D210N|GNB2_uc003uwd.2_Missense_Mutation_p.D154N|GNB2_uc010lhf.2_Missense_Mutation_p.D154N|GNB2_uc003uwe.2_Missense_Mutation_p.D254N|GNB2_uc003uwf.2_Missense_Mutation_p.D154N	NM_005273	NP_005264	P62879	GBB2_HUMAN	guanine nucleotide-binding protein, beta-2	254	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			ovary(2)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)																---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100390033	100390033	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100390033C>T	uc003uwj.2	+	43	7884	c.7719C>T	c.(7717-7719)TGC>TGT	p.C2573C	ZAN_uc003uwk.2_Silent_p.C2573C|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.A566V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2573	Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)															---	---	---	---
TRIP6	7205	broad.mit.edu	37	7	100469273	100469273	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100469273C>T	uc003uww.2	+	7	1278	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	370	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100853896	100853896	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100853896G>A	uc003uyd.2	-	13	1873	c.1417C>T	c.(1417-1419)CGG>TGG	p.R473W	PLOD3_uc010lhs.2_Missense_Mutation_p.R38W	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	473					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101917591	101917591	+	Intron	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:101917591G>T	uc003uyt.2	+						CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron|CUX1_uc003uyz.2_Intron	NM_001913	NP_001904			cut-like homeobox 1 isoform b						negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---
ARMC10	83787	broad.mit.edu	37	7	102738805	102738805	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102738805A>G	uc003vaw.1	+	7	1229	c.837A>G	c.(835-837)CGA>CGG	p.R279R	ARMC10_uc003vay.1_Silent_p.R220R|ARMC10_uc003vax.1_Silent_p.R244R|ARMC10_uc003vbb.1_Silent_p.R185R|ARMC10_uc011kli.1_Silent_p.R220R|ARMC10_uc010lis.1_Silent_p.R161R|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Silent_p.R157R	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	SVH protein isoform a	279					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			ovary(1)	1																		---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508673	106508673	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106508673G>A	uc003vdv.3	+	2	752	c.667G>A	c.(667-669)GTC>ATC	p.V223I	PIK3CG_uc003vdu.2_Missense_Mutation_p.V223I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V223I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	223					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38																		---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107822325	107822325	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107822325C>T	uc003vfb.2	-	24	3058	c.2587G>A	c.(2587-2589)GAG>AAG	p.E863K	NRCAM_uc003vfc.2_Missense_Mutation_p.E847K|NRCAM_uc011kmk.1_Missense_Mutation_p.E858K|NRCAM_uc003vfd.2_Missense_Mutation_p.E839K|NRCAM_uc003vfe.2_Missense_Mutation_p.E839K	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	863	Fibronectin type-III 3.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5																		---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107834488	107834488	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107834488C>A	uc003vfb.2	-	17	2229	c.1758G>T	c.(1756-1758)AGG>AGT	p.R586S	NRCAM_uc003vfc.2_Missense_Mutation_p.R580S|NRCAM_uc011kmk.1_Missense_Mutation_p.R581S|NRCAM_uc003vfd.2_Missense_Mutation_p.R562S|NRCAM_uc003vfe.2_Missense_Mutation_p.R562S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	586	Ig-like 6.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5																		---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111372303	111372303	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:111372303A>G	uc003vfx.2	-	51	5702	c.5433T>C	c.(5431-5433)CCT>CCC	p.P1811P	DOCK4_uc011kml.1_Silent_p.P692P|DOCK4_uc011kmm.1_Silent_p.P680P|DOCK4_uc003vfw.2_Silent_p.P1223P|DOCK4_uc003vfy.2_Silent_p.P1856P|DOCK4_uc003vfv.2_Silent_p.P124P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1811	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)																---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116955281	116955281	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116955281G>A	uc003viz.2	-	3	732	c.432C>T	c.(430-432)AGC>AGT	p.S144S	WNT2_uc003vja.2_Silent_p.S48S	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	144					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123593853	123593853	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123593853G>A	uc003vld.2	+	4	631	c.229G>A	c.(229-231)GGA>AGA	p.G77R	SPAM1_uc003vle.2_Missense_Mutation_p.G77R|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.G77R|SPAM1_uc010lku.2_Missense_Mutation_p.G77R	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	77					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)													---	---	---	---
ZNF800	168850	broad.mit.edu	37	7	127014342	127014342	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127014342A>G	uc003vlx.1	-	5	1311	c.1048T>C	c.(1048-1050)TCA>CCA	p.S350P	ZNF800_uc003vlw.1_Missense_Mutation_p.S253P|ZNF800_uc003vly.1_Missense_Mutation_p.S350P|ZNF800_uc010lla.2_Missense_Mutation_p.S350P	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127236393	127236393	+	Missense_Mutation	SNP	C	T	T	rs148605578		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127236393C>T	uc003vmd.1	+	3	1072	c.853C>T	c.(853-855)CGT>TGT	p.R285C	FSCN3_uc011koh.1_Missense_Mutation_p.R151C|FSCN3_uc010llc.1_Missense_Mutation_p.R285C	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	285						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1																		---	---	---	---
RBM28	55131	broad.mit.edu	37	7	127955004	127955004	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127955004G>A	uc003vmp.2	-	17	1973	c.1858C>T	c.(1858-1860)CAA>TAA	p.Q620*	RBM28_uc003vmo.2_Nonsense_Mutation_p.Q162*|RBM28_uc011koj.1_Nonsense_Mutation_p.Q479*	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	620					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2																		---	---	---	---
IRF5	3663	broad.mit.edu	37	7	128588011	128588011	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128588011G>A	uc003vog.2	+	8	1107	c.986G>A	c.(985-987)CGC>CAC	p.R329H	IRF5_uc003voh.2_Missense_Mutation_p.R313H|IRF5_uc010llt.2_Missense_Mutation_p.R237H|IRF5_uc003voi.2_Missense_Mutation_p.R313H|IRF5_uc003voj.3_Missense_Mutation_p.R313H|IRF5_uc010llw.1_3'UTR	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	323					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
SMO	6608	broad.mit.edu	37	7	128845469	128845469	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128845469T>C	uc003vor.2	+	4	1046	c.766T>C	c.(766-768)TGG>CGG	p.W256R	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	256	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37								Mis		skin basal cell 								---	---	---	---
KLHDC10	23008	broad.mit.edu	37	7	129770479	129770479	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129770479C>T	uc003vpj.1	+	10	1357	c.1222C>T	c.(1222-1224)CTG>TTG	p.L408L	KLHDC10_uc003vpk.1_Silent_p.L379L|KLHDC10_uc010lmb.1_Silent_p.L305L	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	408	Kelch 6.										0																		---	---	---	---
CPA1	1357	broad.mit.edu	37	7	130025772	130025772	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:130025772G>A	uc003vpx.2	+							NM_001868	NP_001859			carboxypeptidase A1 precursor						proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)																	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131195812	131195812	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131195812T>C	uc003vqw.3	-	2	739	c.481A>G	c.(481-483)AAA>GAA	p.K161E	PODXL_uc003vqx.3_Missense_Mutation_p.K161E	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	161	Thr-rich.|Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)																	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131848964	131848964	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131848964G>A	uc003vra.3	-	24	4666	c.4437C>T	c.(4435-4437)GGC>GGT	p.G1479G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1479	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	132192606	132192606	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132192606G>T	uc003vra.3	-	2	1076	c.847C>A	c.(847-849)CTT>ATT	p.L283I	PLXNA4_uc003vrc.2_Missense_Mutation_p.L283I|PLXNA4_uc003vrb.2_Missense_Mutation_p.L283I	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	283	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	132973835	132973835	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132973835G>A	uc003vrk.2	+	3	471	c.436G>A	c.(436-438)GCC>ACC	p.A146T	EXOC4_uc011kpo.1_Missense_Mutation_p.A45T|EXOC4_uc003vri.2_Missense_Mutation_p.A146T|EXOC4_uc003vrj.2_Missense_Mutation_p.A146T	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	146					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)																---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133164813	133164813	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:133164813G>A	uc003vrk.2	+	9	1373	c.1338G>A	c.(1336-1338)TCG>TCA	p.S446S	EXOC4_uc011kpo.1_Silent_p.S345S|EXOC4_uc003vri.2_Silent_p.S446S|EXOC4_uc003vrj.2_Silent_p.S446S	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	446					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)																---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135047807	135047807	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135047807C>T	uc011kpy.1	-	11	2064	c.1972G>A	c.(1972-1974)GCC>ACC	p.A658T	CNOT4_uc003vss.2_Missense_Mutation_p.A584T|CNOT4_uc011kpz.1_Missense_Mutation_p.A655T|CNOT4_uc003vst.2_Missense_Mutation_p.A587T	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	322					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140389535	140389535	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140389535T>C	uc003vvy.1	+						ADCK2_uc003vvz.2_Intron	NM_052853	NP_443085			aarF domain containing kinase 2							integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)																	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141795515	141795515	+	Splice_Site	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141795515T>C	uc003vwy.2	+	41	4973	c.4919_splice	c.e41+2	p.E1640_splice		NM_004668	NP_004659			maltase-glucoamylase						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)													---	---	---	---
ZNF767	79970	broad.mit.edu	37	7	149318586	149318586	+	RNA	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149318586G>A	uc003wfy.3	-	2		c.314C>T			ZNF767_uc003wfx.2_RNA|ZNF767_uc011kuq.1_RNA	NR_027789				Homo sapiens cDNA FLJ12700 fis, clone NT2RP1000721.											central_nervous_system(1)	1	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149508775	149508775	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149508775G>A	uc010lpk.2	+	68	9514	c.9514G>A	c.(9514-9516)GCC>ACC	p.A3172T		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3172					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
KCNH2	3757	broad.mit.edu	37	7	150647278	150647278	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150647278G>A	uc003wic.2	-	9	2389	c.2376C>T	c.(2374-2376)GGC>GGT	p.G792G	KCNH2_uc003wib.2_Silent_p.G452G|KCNH2_uc011kux.1_Silent_p.G696G|KCNH2_uc003wid.2_Silent_p.G452G|KCNH2_uc003wie.2_Silent_p.G792G	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	792	Cytoplasmic (Potential).|cNMP.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)													---	---	---	---
KCNH2	3757	broad.mit.edu	37	7	150671835	150671835	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150671835C>T	uc003wic.2	-	2	284	c.271G>A	c.(271-273)GAG>AAG	p.E91K	KCNH2_uc003wie.2_Missense_Mutation_p.E91K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	91	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)													---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150696110	150696110	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150696110A>C	uc003wif.2	+	8	1189	c.893A>C	c.(892-894)GAT>GCT	p.D298A	NOS3_uc011kuy.1_Missense_Mutation_p.D92A|NOS3_uc011kuz.1_Missense_Mutation_p.D298A|NOS3_uc011kva.1_Missense_Mutation_p.D298A|NOS3_uc011kvb.1_Missense_Mutation_p.D298A	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	298	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)													---	---	---	---
CDK5	1020	broad.mit.edu	37	7	150752436	150752436	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150752436G>A	uc003wir.1	-	8	569	c.508C>T	c.(508-510)CCG>TCG	p.P170S	CDK5_uc003wis.1_Missense_Mutation_p.P138S	NM_004935	NP_004926	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5 isoform 1	170	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)														---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150814817	150814817	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150814817G>A	uc003wjg.1	+	5	662	c.659G>A	c.(658-660)AGC>AAC	p.S220N	AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Missense_Mutation_p.S220N|AGAP3_uc010lpy.1_Missense_Mutation_p.S220N|AGAP3_uc003wjh.1_Missense_Mutation_p.S400N	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	184	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	157041136	157041136	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157041136C>T	uc010lqs.2	+	19	2868	c.2556C>T	c.(2554-2556)GCC>GCT	p.A852A	UBE3C_uc003wni.3_Silent_p.A215A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	852	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)														---	---	---	---
VIPR2	7434	broad.mit.edu	37	7	158935152	158935152	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158935152G>A	uc003woh.2	-	2	323	c.137C>T	c.(136-138)ACA>ATA	p.T46I	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	46	Extracellular (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1857647	1857647	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1857647C>A	uc003wpr.2	+						ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron|ARHGEF10_uc003wpv.2_Intron|ARHGEF10_uc010lre.2_Intron	NM_014629	NP_055444			Rho guanine nucleotide exchange factor 10						centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3000078	3000078	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3000078G>A	uc011kwk.1	-	41	6543	c.6153C>T	c.(6151-6153)CCC>CCT	p.P2051P	CSMD1_uc011kwj.1_Silent_p.P1443P|CSMD1_uc010lrg.2_Silent_p.P119P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2051	Extracellular (Potential).|CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3045475	3045475	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3045475T>C	uc011kwk.1	-	36	5929	c.5539A>G	c.(5539-5541)AGT>GGT	p.S1847G	CSMD1_uc011kwj.1_Missense_Mutation_p.S1239G|CSMD1_uc003wqe.2_Missense_Mutation_p.S1003G|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1847	Extracellular (Potential).|CUB 11.			IQVISFATEQNWDSL -> DPSDQFCHGAELGLPF (in Ref. 1; AAK73475/AAG52948).		integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
NEIL2	252969	broad.mit.edu	37	8	11643587	11643587	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11643587T>C	uc003wug.2	+	5	1479	c.804T>C	c.(802-804)AGT>AGC	p.S268S	NEIL2_uc003wue.2_Silent_p.S268S|NEIL2_uc003wuf.2_Silent_p.S207S|NEIL2_uc011kxd.1_Silent_p.S152S	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	268					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)									BER_DNA_glycosylases					---	---	---	---
SLC7A2	6542	broad.mit.edu	37	8	17409424	17409424	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17409424G>A	uc011kyc.1	+	6	1153	c.984G>A	c.(982-984)GCG>GCA	p.A328A	SLC7A2_uc011kyd.1_Silent_p.A368A|SLC7A2_uc011kye.1_Silent_p.A368A|SLC7A2_uc011kyf.1_Silent_p.A328A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	328	Extracellular (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---
FGL1	2267	broad.mit.edu	37	8	17726129	17726129	+	Missense_Mutation	SNP	G	A	A	rs146098986		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17726129G>A	uc003wxx.2	-	8	1031	c.707C>T	c.(706-708)ACG>ATG	p.T236M	FGL1_uc003wxy.2_Missense_Mutation_p.T236M|FGL1_uc003wxz.2_Missense_Mutation_p.T235M|FGL1_uc003wya.2_Missense_Mutation_p.T236M|FGL1_uc003wyb.2_Missense_Mutation_p.T236M|FGL1_uc003wyc.2_Missense_Mutation_p.T236M|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.T286M|FGL1_uc003wyf.2_Missense_Mutation_p.T206M	NM_201553	NP_963847	Q08830	FGL1_HUMAN	fibrinogen-like 1 precursor	236	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding				0				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---
NAT2	10	broad.mit.edu	37	8	18257712	18257712	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:18257712T>C	uc003wyw.1	+	2	306	c.199T>C	c.(199-201)TGG>CGG	p.W67R		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	67					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)										Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				---	---	---	---
ATP6V1B2	526	broad.mit.edu	37	8	20070374	20070374	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20070374T>C	uc003wzp.2	+	9	1099	c.885T>C	c.(883-885)GTT>GTC	p.V295V		NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	295					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)														---	---	---	---
NPM2	10361	broad.mit.edu	37	8	21891687	21891687	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21891687A>T	uc003xab.2	+	6	1090	c.432A>T	c.(430-432)GAA>GAT	p.E144D	NPM2_uc003xac.2_Missense_Mutation_p.E144D|NPM2_uc003xad.2_Missense_Mutation_p.E144D|NPM2_uc003xae.2_Missense_Mutation_p.E144D|NPM2_uc003xaf.2_Intron	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	nucleoplasmin 2	144	Poly-Glu.				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)														---	---	---	---
REEP4	80346	broad.mit.edu	37	8	21997010	21997010	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21997010C>T	uc003xau.1	-	5	789	c.336G>A	c.(334-336)GAG>GAA	p.E112E	REEP4_uc010ltt.1_Silent_p.E112E|REEP4_uc011kyz.1_Silent_p.E112E	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	112						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)														---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22140652	22140652	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22140652G>A	uc003xbn.2	+	5	679	c.531G>A	c.(529-531)CCG>CCA	p.P177P	PIWIL2_uc011kzf.1_Silent_p.P177P|PIWIL2_uc010ltv.2_Silent_p.P177P	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	177					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)														---	---	---	---
SORBS3	10174	broad.mit.edu	37	8	22415705	22415705	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22415705G>A	uc003xbv.2	+	5	818	c.478G>A	c.(478-480)GAC>AAC	p.D160N	SORBS3_uc011kzk.1_RNA	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	160	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)														---	---	---	---
PDLIM2	64236	broad.mit.edu	37	8	22452098	22452098	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22452098T>C	uc003xcc.1	+	10	1171	c.1037T>C	c.(1036-1038)ATG>ACG	p.M346T		NM_176871	NP_789847	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 1	Error:Variant_position_missing_in_Q96JY6_after_alignment						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)														---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25718687	25718687	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25718687C>T	uc003xes.1	-	13	1237	c.1220G>A	c.(1219-1221)AGG>AAG	p.R407K	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	407					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)														---	---	---	---
SCARA3	51435	broad.mit.edu	37	8	27516154	27516154	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27516154C>T	uc003xga.1	+	5	608	c.467C>T	c.(466-468)GCC>GTC	p.A156V	SCARA3_uc003xgb.1_Missense_Mutation_p.A156V	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	156	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)														---	---	---	---
PURG	29942	broad.mit.edu	37	8	30889719	30889719	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30889719G>A	uc003xin.2	-	1	599	c.580C>T	c.(580-582)CGC>TGC	p.R194C	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.R194C	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	194	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)														---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32505416	32505416	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32505416G>A	uc003xiv.2	+						NRG1_uc003xip.2_Intron|NRG1_uc003xir.2_Intron|NRG1_uc010lvl.2_Intron|NRG1_uc010lvm.2_Intron|NRG1_uc010lvn.2_Intron|NRG1_uc003xis.2_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Intron|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.2_Intron|NRG1_uc003xiy.2_Silent_p.A60A|NRG1_uc010lvt.2_Silent_p.A60A	NM_013964	NP_039258			neuregulin 1 isoform HRG-alpha						activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32617802	32617802	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32617802C>T	uc003xiv.2	+	11	1663	c.1146C>T	c.(1144-1146)AGC>AGT	p.S382S	NRG1_uc011lbf.1_Silent_p.S379S|NRG1_uc010lvo.2_Silent_p.S379S|NRG1_uc003xiu.2_Silent_p.S387S|NRG1_uc003xiw.2_Silent_p.S379S|NRG1_uc003xit.2_Silent_p.S382S|NRG1_uc010lvr.2_Silent_p.S124S|NRG1_uc010lvs.2_Silent_p.S124S|NRG1_uc010lvp.2_Silent_p.S336S|NRG1_uc010lvq.2_Silent_p.S319S|NRG1_uc011lbg.1_Silent_p.S228S|NRG1_uc011lbh.1_Silent_p.S225S|NRG1_uc003xja.2_Silent_p.S193S	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	382	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
ERLIN2	11160	broad.mit.edu	37	8	37597886	37597886	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37597886C>T	uc003xke.3	+	3	226	c.111C>T	c.(109-111)GGC>GGT	p.G37G	uc003xkb.1_5'Flank|ERLIN2_uc003xkc.3_Silent_p.G37G|ERLIN2_uc003xkd.2_Silent_p.G37G|ERLIN2_uc003xkf.3_Silent_p.G37G|ERLIN2_uc003xkg.2_Silent_p.G37G	NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1	37	Lumenal (Potential).				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)															---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37688981	37688981	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37688981G>A	uc003xkj.2	+	8	1336	c.973G>A	c.(973-975)GAG>AAG	p.E325K	GPR124_uc010lvy.2_Missense_Mutation_p.E325K	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	325	Extracellular (Potential).|Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)															---	---	---	---
TM2D2	83877	broad.mit.edu	37	8	38851132	38851132	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38851132G>A	uc003xmk.2	-	3	446	c.363C>T	c.(361-363)TGC>TGT	p.C121C	TM2D2_uc003xml.2_Silent_p.C78C|TM2D2_uc003xmm.2_Silent_p.C78C|TM2D2_uc003xmn.2_Silent_p.C78C	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2 isoform a	121						integral to membrane					0		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)															---	---	---	---
ANK1	286	broad.mit.edu	37	8	41519464	41519464	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41519464G>A	uc003xok.2	-						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Intron|ANK1_uc003xoj.2_Intron|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Intron|ANK1_uc011lcl.1_Intron|ANK1_uc003xod.2_Intron|ANK1_uc003xoc.2_Intron|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank	NM_020476	NP_065209			ankyrin 1 isoform 1						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)															---	---	---	---
MYST3	7994	broad.mit.edu	37	8	41791956	41791956	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41791956G>T	uc010lxb.2	-	18	4326	c.3782C>A	c.(3781-3783)CCT>CAT	p.P1261H	MYST3_uc010lxc.2_Missense_Mutation_p.P1261H|MYST3_uc003xon.3_Missense_Mutation_p.P1261H	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1261					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)															---	---	---	---
IKBKB	3551	broad.mit.edu	37	8	42178357	42178357	+	Silent	SNP	C	T	T	rs148836092		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42178357C>T	uc003xow.1	+	16	1860	c.1683C>T	c.(1681-1683)GAC>GAT	p.D561D	IKBKB_uc010lxh.1_3'UTR|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.D338D|IKBKB_uc003xox.1_Silent_p.D282D|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.D559D|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.D502D	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	561					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)													---	---	---	---
NPBWR1	2831	broad.mit.edu	37	8	53852765	53852765	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53852765C>T	uc011ldu.1	+	1	298	c.298C>T	c.(298-300)CGG>TGG	p.R100W		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	100	Extracellular (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)																---	---	---	---
SOX17	64321	broad.mit.edu	37	8	55372559	55372559	+	3'UTR	SNP	G	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55372559G>C	uc003xsb.3	+	2						NM_022454	NP_071899			SRY-box 17						angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)															---	---	---	---
PENK	5179	broad.mit.edu	37	8	57358398	57358398	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57358398G>A	uc003xsz.2	-	1	196	c.115C>T	c.(115-117)CGC>TGC	p.R39C	uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.R39C|PENK_uc010lym.2_Missense_Mutation_p.R39C	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	39					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)															---	---	---	---
PENK	5179	broad.mit.edu	37	8	57358505	57358505	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57358505C>T	uc003xsz.2	-	1	89	c.8G>A	c.(7-9)CGG>CAG	p.R3Q	uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.R3Q|PENK_uc010lym.2_Missense_Mutation_p.R3Q	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	3					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)															---	---	---	---
CYP7A1	1581	broad.mit.edu	37	8	59409729	59409729	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59409729A>C	uc003xtm.3	-	3	405	c.342T>G	c.(340-342)ATT>ATG	p.I114M		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	114					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)												Neonatal_Giant_Cell_Hepatitis				---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62212852	62212852	+	Intron	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62212852A>T	uc003xuh.2	+						CLVS1_uc003xug.2_Intron|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Intron	NM_173519	NP_775790			retinaldehyde binding protein 1-like 1						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5																		---	---	---	---
ARMC1	55156	broad.mit.edu	37	8	66534566	66534566	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66534566G>A	uc003xvl.2	-	3	442	c.207C>T	c.(205-207)TGC>TGT	p.C69C	ARMC1_uc011leo.1_Missense_Mutation_p.P31S	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	69	ARM.				metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)															---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67547088	67547088	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67547088C>T	uc003xwn.2	-	3	3576	c.3317G>A	c.(3316-3318)CGA>CAA	p.R1106Q		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	1106					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)															---	---	---	---
CPA6	57094	broad.mit.edu	37	8	68396023	68396023	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68396023T>C	uc003xxq.3	-	8	1074	c.818A>G	c.(817-819)AAC>AGC	p.N273S	CPA6_uc003xxr.3_Missense_Mutation_p.N125S|CPA6_uc003xxs.2_Missense_Mutation_p.N273S	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	273					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)															---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68942753	68942753	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68942753C>T	uc003xxv.1	+	6	592	c.565C>T	c.(565-567)CGG>TGG	p.R189W	PREX2_uc003xxu.1_Missense_Mutation_p.R189W|PREX2_uc011lez.1_Missense_Mutation_p.R124W	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	189	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69031761	69031761	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69031761C>A	uc003xxv.1	+							NM_024870	NP_079146			DEP domain containing 2 isoform a						G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73849351	73849351	+	Silent	SNP	C	T	T	rs141923254		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73849351C>T	uc003xzb.2	+	3	2349	c.1761C>T	c.(1759-1761)GCC>GCT	p.A587A		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	587	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
PI15	51050	broad.mit.edu	37	8	75737662	75737662	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:75737662C>T	uc003yal.2	+	2	357	c.178C>T	c.(178-180)CGC>TGC	p.R60C	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.R60C	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	60						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)															---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76471161	76471161	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:76471161C>T	uc003yaq.2	+	9	1141	c.871C>T	c.(871-873)CTC>TTC	p.L291F	HNF4G_uc003yar.2_Missense_Mutation_p.L328F	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	291					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77765551	77765551	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77765551C>A	uc003yav.2	+	10	6646	c.6259C>A	c.(6259-6261)CCA>ACA	p.P2087T	ZFHX4_uc003yau.1_Missense_Mutation_p.P2132T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2087T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2087	Homeobox 1.					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)			---	---	---	---
IMPA1	3612	broad.mit.edu	37	8	82588523	82588523	+	Intron	SNP	A	T	T	rs72422225		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82588523A>T	uc003ych.2	-						IMPA1_uc011lfq.1_Intron|IMPA1_uc011lfr.1_Intron	NM_005536	NP_005527			inositol(myo)-1(or 4)-monophosphatase 1 isoform						inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)													---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95502202	95502202	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95502202C>T	uc003ygo.1	-	23	5262	c.5249G>A	c.(5248-5250)GGC>GAC	p.G1750D	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1750					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)															---	---	---	---
GDF6	392255	broad.mit.edu	37	8	97156813	97156813	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:97156813A>G	uc003yhp.2	-	2	1446	c.1346T>C	c.(1345-1347)GTG>GCG	p.V449A		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	449					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)																	---	---	---	---
MTERFD1	51001	broad.mit.edu	37	8	97270799	97270799	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:97270799G>A	uc003yhs.1	-	2	198	c.120C>T	c.(118-120)GGC>GGT	p.G40G	MTERFD1_uc003yhr.1_5'Flank|MTERFD1_uc010mbd.1_Silent_p.G40G	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	MTERF domain containing 1 precursor	40					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			ovary(1)	1	Breast(36;5.16e-05)																	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100866205	100866205	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100866205G>A	uc003yiv.2	+	56	10774	c.10663G>A	c.(10663-10665)GCT>ACT	p.A3555T	VPS13B_uc003yiw.2_Missense_Mutation_p.A3530T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3555					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103297393	103297393	+	Silent	SNP	C	T	T	rs145137858	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103297393C>T	uc003ykr.1	-	40	5691	c.5658G>A	c.(5656-5658)GCG>GCA	p.A1886A	UBR5_uc003yks.1_Silent_p.A1886A	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1886					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)															---	---	---	---
TM7SF4	81501	broad.mit.edu	37	8	105361783	105361783	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105361783G>T	uc003ylx.1	+	2	1052	c.1003G>T	c.(1003-1005)GAG>TAG	p.E335*		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	335					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105459576	105459576	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105459576C>T	uc003yly.3	-	3	708	c.579G>A	c.(577-579)GCG>GCA	p.A193A		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	193					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106815064	106815064	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:106815064A>G	uc003ymd.2	+	8	2777	c.2754A>G	c.(2752-2754)AAA>AAG	p.K918K	ZFPM2_uc011lhs.1_Silent_p.K649K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	918					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)															---	---	---	---
RSPO2	340419	broad.mit.edu	37	8	109001362	109001362	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:109001362G>A	uc003yms.2	-	3	863	c.205C>T	c.(205-207)CGC>TGC	p.R69C	RSPO2_uc003ymq.2_Missense_Mutation_p.R2C|RSPO2_uc003ymr.2_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	69					Wnt receptor signaling pathway	extracellular region	heparin binding			skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)															---	---	---	---
ENY2	56943	broad.mit.edu	37	8	110348379	110348379	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110348379C>T	uc003ynd.2	+	2	91	c.29C>T	c.(28-30)GCG>GTG	p.A10V	NUDCD1_uc003ynb.3_5'Flank|NUDCD1_uc010mcl.2_5'Flank|ENY2_uc003ync.2_Missense_Mutation_p.A5V	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	10					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)															---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110588045	110588045	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110588045T>A	uc003ynj.3	-	7	1245	c.1082A>T	c.(1081-1083)GAC>GTC	p.D361V	SYBU_uc003yni.3_Missense_Mutation_p.D358V|SYBU_uc003ynk.3_Missense_Mutation_p.D242V|SYBU_uc010mco.2_Missense_Mutation_p.D360V|SYBU_uc003ynl.3_Missense_Mutation_p.D360V|SYBU_uc010mcp.2_Missense_Mutation_p.D361V|SYBU_uc010mcq.2_Missense_Mutation_p.D361V|SYBU_uc003yno.3_Missense_Mutation_p.D242V|SYBU_uc010mcr.2_Missense_Mutation_p.D361V|SYBU_uc003ynm.3_Missense_Mutation_p.D360V|SYBU_uc003ynn.3_Missense_Mutation_p.D360V|SYBU_uc010mcs.2_Missense_Mutation_p.D242V|SYBU_uc010mct.2_Missense_Mutation_p.D361V|SYBU_uc010mcu.2_Missense_Mutation_p.D360V|SYBU_uc003ynp.3_Missense_Mutation_p.D293V|SYBU_uc010mcv.2_Missense_Mutation_p.D361V|SYBU_uc003ynh.3_Missense_Mutation_p.D155V|SYBU_uc011lhw.1_Missense_Mutation_p.D231V	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	361	Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113871489	113871489	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113871489G>A	uc003ynu.2	-	11	1799	c.1640C>T	c.(1639-1641)ACG>ATG	p.T547M	CSMD3_uc003ynt.2_Missense_Mutation_p.T507M|CSMD3_uc011lhx.1_Missense_Mutation_p.T443M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	547	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
EXT1	2131	broad.mit.edu	37	8	118847717	118847717	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:118847717G>A	uc003yok.1	-	3	1903	c.1130C>T	c.(1129-1131)GCT>GTT	p.A377V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	377	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)					Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome				---	---	---	---
SNTB1	6641	broad.mit.edu	37	8	121823613	121823613	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121823613G>A	uc010mdg.2	-	1	697	c.471C>T	c.(469-471)GGC>GGT	p.G157G	SNTB1_uc003ype.2_Silent_p.G157G	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	157	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123965008	123965008	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:123965008C>T	uc003ypk.1	+	3	1825	c.1258C>T	c.(1258-1260)CGT>TGT	p.R420C		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	420	Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124371546	124371546	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124371546T>C	uc003yqh.3	-	11	1405	c.1297A>G	c.(1297-1299)AAT>GAT	p.N433D	ATAD2_uc011lii.1_Missense_Mutation_p.N224D|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.N433D	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125022838	125022838	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125022838T>C	uc003yqw.2	+	14	1911	c.1705T>C	c.(1705-1707)TAC>CAC	p.Y569H	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	569	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)															---	---	---	---
TMEM65	157378	broad.mit.edu	37	8	125332355	125332355	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125332355A>G	uc010mdl.2	-	6	1135	c.593T>C	c.(592-594)ATG>ACG	p.M198T		NM_194291	NP_919267	Q6PI78	TMM65_HUMAN	transmembrane protein 65	198						integral to membrane					0	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
WISP1	8840	broad.mit.edu	37	8	134232963	134232963	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134232963G>A	uc003yub.2	+	3	565	c.489G>A	c.(487-489)CCG>CCA	p.P163P	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	163	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)															---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135614542	135614542	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:135614542G>A	uc003yup.2	-	6	1595	c.1420C>T	c.(1420-1422)CGC>TGC	p.R474C	ZFAT_uc003yun.2_Missense_Mutation_p.R462C|ZFAT_uc003yuo.2_Missense_Mutation_p.R462C|ZFAT_uc010meh.2_Missense_Mutation_p.R462C|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R462C|ZFAT_uc010mej.2_Missense_Mutation_p.R412C|ZFAT_uc003yur.2_Missense_Mutation_p.R462C	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	474	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)															---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139263228	139263228	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139263228A>C	uc003yuy.2	-	6	569	c.398T>G	c.(397-399)GTC>GGC	p.V133G	FAM135B_uc003yux.2_Missense_Mutation_p.V34G|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	133										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)			---	---	---	---
BAI1	575	broad.mit.edu	37	8	143566044	143566044	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143566044C>T	uc003ywm.2	+	12	2410	c.2227C>T	c.(2227-2229)CGG>TGG	p.R743W		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	743	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
GSDMD	79792	broad.mit.edu	37	8	144643943	144643943	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144643943G>A	uc010mfe.2	+	10	1471	c.768G>A	c.(766-768)TGG>TGA	p.W256*	GSDMD_uc003yyf.2_Nonsense_Mutation_p.W304*|GSDMD_uc003yyg.2_Nonsense_Mutation_p.W256*|GSDMD_uc003yyh.2_Nonsense_Mutation_p.W187*	NM_024736	NP_079012	P57764	GSDMD_HUMAN	gasdermin D	256											0																		---	---	---	---
PYCRL	65263	broad.mit.edu	37	8	144688646	144688646	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144688646G>A	uc003yyy.2	-	4	586	c.576C>T	c.(574-576)GGC>GGT	p.G192G	PYCRL_uc011lkm.1_Silent_p.G172G|PYCRL_uc011lkn.1_RNA	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	180					proline biosynthetic process		pyrroline-5-carboxylate reductase activity				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)															---	---	---	---
ZNF623	9831	broad.mit.edu	37	8	144733328	144733328	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144733328G>T	uc003yzd.2	+	1	1375	c.1286G>T	c.(1285-1287)AGG>ATG	p.R429M	ZNF623_uc011lkp.1_Missense_Mutation_p.R389M|ZNF623_uc003yzc.2_Missense_Mutation_p.R389M	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)															---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144990747	144990747	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144990747G>A	uc003zaf.1	-	32	13823	c.13653C>T	c.(13651-13653)CGC>CGT	p.R4551R	PLEC_uc003zab.1_Silent_p.R4414R|PLEC_uc003zac.1_Silent_p.R4418R|PLEC_uc003zad.2_Silent_p.R4414R|PLEC_uc003zae.1_Silent_p.R4382R|PLEC_uc003zag.1_Silent_p.R4392R|PLEC_uc003zah.2_Silent_p.R4400R|PLEC_uc003zaj.2_Silent_p.R4441R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4551	Plectin 32.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
OPLAH	26873	broad.mit.edu	37	8	145106989	145106989	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145106989C>T	uc003zar.3	-							NM_017570	NP_060040			5-oxoprolinase (ATP-hydrolysing)								5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)													---	---	---	---
KIFC2	90990	broad.mit.edu	37	8	145694141	145694141	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145694141G>A	uc003zcz.2	+	10	1102	c.1037G>A	c.(1036-1038)GGC>GAC	p.G346D		NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	346	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)															---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145771001	145771001	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145771001T>C	uc003zdt.1	-	7	2708	c.2153A>G	c.(2152-2154)AAC>AGC	p.N718S	ARHGAP39_uc011llk.1_Missense_Mutation_p.N718S|ARHGAP39_uc003zds.1_Missense_Mutation_p.N718S	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	718					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0																		---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145772702	145772702	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145772702C>T	uc003zdt.1	-	6	2323	c.1768G>A	c.(1768-1770)GCC>ACC	p.A590T	ARHGAP39_uc011llk.1_Missense_Mutation_p.A590T|ARHGAP39_uc003zds.1_Missense_Mutation_p.A590T	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	590					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0																		---	---	---	---
ZNF251	90987	broad.mit.edu	37	8	145948088	145948088	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145948088T>G	uc003zdv.3	-	5	1213	c.957A>C	c.(955-957)AAA>AAC	p.K319N		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)														---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146015267	146015267	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146015267G>A	uc003zeb.2	-	6	807	c.696C>T	c.(694-696)GGC>GGT	p.G232G	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.G196G|RPL8_uc003zec.2_Silent_p.G232G	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	232					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2104016	2104016	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2104016C>T	uc003zhc.2	+	23	3238	c.3139C>T	c.(3139-3141)CGG>TGG	p.R1047W	SMARCA2_uc003zhd.2_Missense_Mutation_p.R1047W|SMARCA2_uc010mha.2_Missense_Mutation_p.R980W	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1047					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)														---	---	---	---
KIAA0020	9933	broad.mit.edu	37	9	2820070	2820070	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2820070G>A	uc003zhp.1	-	13	1313	c.1217C>T	c.(1216-1218)GCG>GTG	p.A406V	KIAA0020_uc010mhc.1_Missense_Mutation_p.A405V|KIAA0020_uc003zhq.1_Missense_Mutation_p.A405V	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	406	Pumilio 5.|PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)														---	---	---	---
KIAA0020	9933	broad.mit.edu	37	9	2831004	2831004	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2831004G>A	uc003zhp.1	-	7	731	c.635C>T	c.(634-636)GCC>GTC	p.A212V	KIAA0020_uc010mhc.1_Missense_Mutation_p.A211V|KIAA0020_uc003zhq.1_Missense_Mutation_p.A212V	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	212	Pumilio 2.|PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)														---	---	---	---
CDC37L1	55664	broad.mit.edu	37	9	4688610	4688610	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4688610A>G	uc003zio.2	+							NM_017913	NP_060383			cell division cycle 37 homolog (S.							cytoplasm					0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)														---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5089751	5089751	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5089751G>A	uc010mhm.2	+	19	2762	c.2649G>A	c.(2647-2649)AAG>AAA	p.K883K	JAK2_uc003ziw.2_Silent_p.K883K	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	883	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)			1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	6805770	6805770	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6805770G>A	uc003zkh.2	+	3	896	c.316G>A	c.(316-318)GGC>AGC	p.G106S	KDM4C_uc010mhu.2_Missense_Mutation_p.G128S|KDM4C_uc010mhw.2_Missense_Mutation_p.G106S|KDM4C_uc011lmi.1_Missense_Mutation_p.G106S|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.G106S|KDM4C_uc011lmk.1_Intron|KDM4C_uc010mhv.2_Missense_Mutation_p.G106S	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	106					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1																		---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	6814672	6814672	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6814672G>A	uc003zkh.2	+	4	942	c.362G>A	c.(361-363)CGC>CAC	p.R121H	KDM4C_uc010mhu.2_Missense_Mutation_p.R143H|KDM4C_uc010mhw.2_Missense_Mutation_p.R121H|KDM4C_uc011lmi.1_Missense_Mutation_p.R121H|KDM4C_uc011lmj.1_Intron|KDM4C_uc003zkg.2_Missense_Mutation_p.R121H|KDM4C_uc011lmk.1_5'UTR|KDM4C_uc010mhv.2_Missense_Mutation_p.R121H	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	121					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1																		---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13140138	13140138	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13140138T>C	uc010mia.1	-	27	3908	c.3851A>G	c.(3850-3852)CAG>CGG	p.Q1284R	MPDZ_uc010mib.2_5'Flank|MPDZ_uc010mhx.2_Missense_Mutation_p.Q106R|MPDZ_uc011lmm.1_Missense_Mutation_p.Q143R|MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.Q1284R|MPDZ_uc010mhz.2_Missense_Mutation_p.Q1251R|MPDZ_uc011lmn.1_Missense_Mutation_p.Q1251R|MPDZ_uc003zlb.3_Missense_Mutation_p.Q1284R	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1284					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)														---	---	---	---
ZDHHC21	340481	broad.mit.edu	37	9	14674299	14674299	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14674299A>G	uc003zli.2	-	4	510	c.40T>C	c.(40-42)TGG>CGG	p.W14R	ZDHHC21_uc003zlg.1_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	14					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(50;4.31e-06)														---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17484293	17484293	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:17484293G>A	uc003zmz.2	+	24	3879	c.3853G>A	c.(3853-3855)GCT>ACT	p.A1285T	CNTLN_uc003zmy.2_Missense_Mutation_p.A1286T|CNTLN_uc010mio.2_Missense_Mutation_p.A965T	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1286	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)														---	---	---	---
HAUS6	54801	broad.mit.edu	37	9	19058515	19058515	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19058515T>G	uc003znk.2	-	16	2503	c.2250A>C	c.(2248-2250)AAA>AAC	p.K750N	HAUS6_uc011lmz.1_Missense_Mutation_p.K470N|HAUS6_uc003znl.1_Missense_Mutation_p.K614N	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	750					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2																		---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974573	21974573	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21974573T>C	uc003zpk.2	-						MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.K85R|CDKN2A_uc010miu.2_Intron|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068			cyclin-dependent kinase inhibitor 2A isoform 1						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(10)|p.V28_V51del(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)			17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	---	---	---
B4GALT1	2683	broad.mit.edu	37	9	33167076	33167076	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33167076G>A	uc003zsg.2	-	1	281	c.92C>T	c.(91-93)GCT>GTT	p.A31V		NM_001497	NP_001488	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	31	Helical; Signal-anchor for type II membrane protein; (Potential).			AL -> VW (in Ref. 1; AAA35936/AAA35937 and 6; AAA68220).	oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)													---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33462740	33462740	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33462740T>C	uc003zsz.2	-	26	3464	c.3363A>G	c.(3361-3363)GCA>GCG	p.A1121A	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Silent_p.A175A|NOL6_uc003zta.2_Silent_p.A674A|NOL6_uc010mjv.2_Silent_p.A1118A|NOL6_uc011lob.1_Silent_p.A1069A|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	1121					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)														---	---	---	---
DCAF12	25853	broad.mit.edu	37	9	34125012	34125012	+	Intron	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34125012G>T	uc003ztt.2	-							NM_015397	NP_056212			DDB1 and CUL4 associated factor 12							centrosome|CUL4 RING ubiquitin ligase complex					0																		---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34311229	34311229	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34311229T>C	uc003zua.3	-	2	236	c.116A>G	c.(115-117)GAC>GGC	p.D39G	KIF24_uc010mkb.2_Missense_Mutation_p.D70G	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	39	SAM.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)															---	---	---	---
VCP	7415	broad.mit.edu	37	9	35067913	35067913	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35067913G>A	uc003zvy.2	-	3	666	c.277C>T	c.(277-279)CGT>TGT	p.R93C	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.R48C	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	93					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)															---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35403768	35403768	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35403768C>A	uc003zwq.2	+	39	4806	c.4514C>A	c.(4513-4515)CCC>CAC	p.P1505H	UNC13B_uc003zwr.2_Missense_Mutation_p.P1524H|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1505	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35555607	35555607	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35555607G>A	uc003zww.2	+	3	2820	c.2565G>A	c.(2563-2565)CCG>CCA	p.P855P	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.P855P	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	855						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
FAM166B	730112	broad.mit.edu	37	9	35563290	35563290	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35563290C>T	uc010mkr.2	-	2	230	c.159G>A	c.(157-159)TGG>TGA	p.W53*	FAM166B_uc011lov.1_Nonsense_Mutation_p.W53*|FAM166B_uc011low.1_Nonsense_Mutation_p.W53*|FAM166B_uc003zwy.2_Nonsense_Mutation_p.W53*	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	53											0																		---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35609368	35609368	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35609368C>T	uc003zxa.2	+	10	1846	c.1510C>T	c.(1510-1512)CAA>TAA	p.Q504*	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Nonsense_Mutation_p.Q344*	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	504					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
GRHPR	9380	broad.mit.edu	37	9	37428512	37428512	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37428512C>T	uc003zzu.1	+	5	477	c.436C>T	c.(436-438)CTG>TTG	p.L146L	GRHPR_uc010mlu.2_Silent_p.L66L|GRHPR_uc010mlv.1_Silent_p.L66L|GRHPR_uc003zzt.1_Silent_p.L66L|GRHPR_uc003zzv.1_5'Flank|GRHPR_uc003zzw.1_5'Flank	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	146					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding				0				GBM - Glioblastoma multiforme(29;0.00687)														---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37746591	37746591	+	Missense_Mutation	SNP	C	T	T	rs150133117		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37746591C>T	uc004aag.1	+	16	4606	c.4562C>T	c.(4561-4563)GCG>GTG	p.A1521V	FRMPD1_uc004aah.1_Missense_Mutation_p.A1521V	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1521						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)														---	---	---	---
PRKACG	5568	broad.mit.edu	37	9	71628327	71628327	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71628327G>A	uc004agy.2	-	1	713	c.682C>T	c.(682-684)CTC>TTC	p.L228F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	228	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74329881	74329881	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74329881C>A	uc011lsa.1	-	15	3100	c.2560G>T	c.(2560-2562)GAC>TAC	p.D854Y	TMEM2_uc010mos.2_Missense_Mutation_p.D791Y|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	854						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
ALDH1A1	216	broad.mit.edu	37	9	75539031	75539031	+	Silent	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:75539031T>G	uc004ajd.2	-	7	704	c.651A>C	c.(649-651)GGA>GGC	p.G217G	ALDH1A1_uc011lsh.1_Silent_p.G138G|ALDH1A1_uc011lsg.1_Silent_p.G43G	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	217					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)													---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79952237	79952237	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79952237G>C	uc004akr.2	+	47	6422	c.6162G>C	c.(6160-6162)GAG>GAC	p.E2054D	VPS13A_uc004akp.3_Missense_Mutation_p.E2054D|VPS13A_uc004akq.3_Missense_Mutation_p.E2054D|VPS13A_uc004aks.2_Missense_Mutation_p.E2015D|VPS13A_uc004akt.2_Missense_Mutation_p.E394D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2054					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
CDK20	23552	broad.mit.edu	37	9	90585680	90585680	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90585680G>A	uc004apr.2	-						CDK20_uc004aps.2_Intron|CDK20_uc004apt.2_Intron|CDK20_uc004apu.2_Intron	NM_001039803	NP_001034892			cell cycle related kinase isoform 3						cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1																		---	---	---	---
SHC3	53358	broad.mit.edu	37	9	91657048	91657048	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91657048G>A	uc004aqg.2	-	10	1560	c.1253C>T	c.(1252-1254)ACG>ATG	p.T418M		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	418	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4																		---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	91994251	91994251	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91994251C>T	uc004aqo.1	-	18	2529	c.1957G>A	c.(1957-1959)GTA>ATA	p.V653I	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.V651I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	653	Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94495680	94495680	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94495680C>A	uc004arj.1	-	6	860	c.661G>T	c.(661-663)GAC>TAC	p.D221Y	ROR2_uc004ari.1_Missense_Mutation_p.D81Y|ROR2_uc004ark.2_Missense_Mutation_p.D221Y	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	221	FZ.|Extracellular (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95481241	95481241	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95481241G>A	uc004aso.1	-	5	1743	c.1686C>T	c.(1684-1686)GGC>GGT	p.G562G	BICD2_uc004asp.1_Silent_p.G562G	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	562					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95481833	95481833	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95481833G>A	uc004aso.1	-	5	1151	c.1094C>T	c.(1093-1095)ACG>ATG	p.T365M	BICD2_uc004asp.1_Missense_Mutation_p.T365M	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	365	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
WNK2	65268	broad.mit.edu	37	9	95993293	95993293	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95993293T>C	uc004ati.1	+	3	978	c.978T>C	c.(976-978)TGT>TGC	p.C326C	WNK2_uc011lud.1_Silent_p.C326C|WNK2_uc004atj.2_Silent_p.C326C|WNK2_uc010mrc.1_Silent_p.C326C|WNK2_uc010mrd.1_5'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	326	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12																		---	---	---	---
WNK2	65268	broad.mit.edu	37	9	95997109	95997109	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95997109G>A	uc004ati.1	+	4	1095	c.1095G>A	c.(1093-1095)GCG>GCA	p.A365A	WNK2_uc011lud.1_Silent_p.A365A|WNK2_uc004atj.2_Silent_p.A365A|WNK2_uc004atk.2_Silent_p.A2A|WNK2_uc010mrc.1_Silent_p.A365A|WNK2_uc010mrd.1_Silent_p.A2A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	365	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12																		---	---	---	---
WNK2	65268	broad.mit.edu	37	9	95997253	95997253	+	Intron	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95997253T>A	uc004ati.1	+						WNK2_uc011lud.1_Intron|WNK2_uc004atj.2_Intron|WNK2_uc004atk.2_Intron|WNK2_uc010mrc.1_Intron|WNK2_uc010mrd.1_Intron	NM_006648	NP_006639			WNK lysine deficient protein kinase 2						intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12																		---	---	---	---
FAM120A	23196	broad.mit.edu	37	9	96261170	96261170	+	Splice_Site	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96261170T>C	uc004atw.2	+	5	1055	c.1030_splice	c.e5+2	p.A344_splice	FAM120A_uc004atv.2_Splice_Site_p.A344_splice|FAM120A_uc004atx.2_Splice_Site_p.A126_splice|FAM120A_uc004aty.2_Splice_Site_p.A126_splice	NM_014612	NP_055427			oxidative stress-associated Src activator							cytoplasm|plasma membrane	RNA binding				0																		---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96438043	96438043	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96438043C>T	uc004aub.2	+	20	2951	c.2804C>T	c.(2803-2805)GCG>GTG	p.A935V	PHF2_uc011lug.1_Missense_Mutation_p.A818V|PHF2_uc004auc.2_Missense_Mutation_p.A355V	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	935					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)														---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98268780	98268780	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98268780G>A	uc004avk.3	-	2	491	c.303C>T	c.(301-303)TTC>TTT	p.F101F	PTCH1_uc010mro.2_5'UTR|PTCH1_uc010mrp.2_5'UTR|PTCH1_uc010mrq.2_5'UTR|PTCH1_uc004avl.3_5'UTR|PTCH1_uc010mrr.2_Silent_p.F35F|PTCH1_uc004avm.3_Silent_p.F100F|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA|PTCH1_uc004avo.2_Silent_p.F35F|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	101	Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
CDC14B	8555	broad.mit.edu	37	9	99285991	99285991	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99285991C>A	uc004awj.2	-	10	1415	c.963G>T	c.(961-963)ACG>ACT	p.T321T	CDC14B_uc004awk.2_Silent_p.T321T|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Silent_p.T284T	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	321	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
CTSL2	1515	broad.mit.edu	37	9	99795342	99795342	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99795342G>A	uc004awt.2	-						CTSL2_uc010msi.2_Intron|CTSL2_uc004awu.2_Intron	NM_001333	NP_001324			cathepsin L2 preproprotein							lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
KIAA1529	57653	broad.mit.edu	37	9	100125964	100125964	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100125964C>T	uc011lut.1	+						KIAA1529_uc004axe.1_Intron|KIAA1529_uc004axg.1_Intron|KIAA1529_uc004axh.1_Intron|KIAA1529_uc011luw.1_Intron|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)																---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100245400	100245400	+	Silent	SNP	C	T	T	rs138199272		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100245400C>T	uc004axj.2	+	15	2907	c.2682C>T	c.(2680-2682)AGC>AGT	p.S894S	TDRD7_uc011lux.1_Silent_p.S820S|TDRD7_uc010msp.1_Silent_p.S146S|TDRD7_uc011luy.1_Silent_p.S214S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	894	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
TMOD1	7111	broad.mit.edu	37	9	100353681	100353681	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100353681C>T	uc004axk.1	+	9	1192	c.979C>T	c.(979-981)CGG>TGG	p.R327W	TMOD1_uc004axl.1_Missense_Mutation_p.R327W	NM_003275	NP_003266	P28289	TMOD1_HUMAN	tropomodulin 1	327					muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)														---	---	---	---
GABBR2	9568	broad.mit.edu	37	9	101258740	101258740	+	Silent	SNP	G	A	A	rs149573430	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101258740G>A	uc004ays.2	-	4	843	c.687C>T	c.(685-687)ACC>ACT	p.T229T		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	229	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)													---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101706337	101706337	+	5'UTR	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101706337C>A	uc004azb.1	+	1					COL15A1_uc004aza.2_5'UTR	NM_001855	NP_001846			alpha 1 type XV collagen precursor						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)																---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102590423	102590423	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:102590423C>T	uc004baf.1	+	3	828	c.99C>T	c.(97-99)CCC>CCT	p.P33P	NR4A3_uc004bae.2_Silent_p.P33P|NR4A3_uc004bag.1_Silent_p.P33P|NR4A3_uc004bai.2_Silent_p.P44P	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	33					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)						T	EWSR1	extraskeletal myxoid chondrosarcoma								---	---	---	---
TMEFF1	8577	broad.mit.edu	37	9	103204533	103204533	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103204533G>A	uc004bay.1	+	1	346	c.313G>A	c.(313-315)GTC>ATC	p.V105I	C9orf30_uc004baw.2_Missense_Mutation_p.V105I|C9orf30_uc004bax.2_RNA	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	Error:Variant_position_missing_in_Q8IYR6_after_alignment					multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)																---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617246	111617246	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111617246C>T	uc004bdi.2	-	1	1030	c.965G>A	c.(964-966)TGC>TAC	p.C322Y		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	322						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1																		---	---	---	---
ACTL7B	10880	broad.mit.edu	37	9	111617489	111617489	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111617489C>T	uc004bdi.2	-	1	787	c.722G>A	c.(721-723)GGC>GAC	p.G241D		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	241						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1																		---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900030	112900030	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112900030G>A	uc004bei.2	+	9	3094	c.2902G>A	c.(2902-2904)GCA>ACA	p.A968T	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.A736T|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.A736T|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A546T|AKAP2_uc011lwi.1_Missense_Mutation_p.A594T|AKAP2_uc004bem.2_Missense_Mutation_p.A594T|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A554T|AKAP2_uc011lwj.1_Missense_Mutation_p.A505T|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.A505T	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	505							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6																		---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113197545	113197545	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113197545C>T	uc010mtz.2	-	29	5201	c.4864G>A	c.(4864-4866)GAT>AAT	p.D1622N		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1622	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113228188	113228188	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113228188G>A	uc010mtz.2	-	18	3616	c.3279C>T	c.(3277-3279)ACC>ACT	p.T1093T	SVEP1_uc010mua.1_Silent_p.T1093T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1093					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---
WDR31	114987	broad.mit.edu	37	9	116079151	116079151	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116079151A>G	uc004bhe.2	-	11	1234	c.982T>C	c.(982-984)TTG>CTG	p.L328L	uc004bhb.2_5'Flank|WDR31_uc004bhc.2_Silent_p.L327L|WDR31_uc004bhd.2_Silent_p.L203L|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	328											0																		---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187629	116187629	+	Silent	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116187629A>C	uc004bho.3	+	10	1267	c.871A>C	c.(871-873)AGG>CGG	p.R291R	C9orf43_uc004bhp.2_Silent_p.R291R	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	291											0																		---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116269753	116269753	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116269753C>A	uc004bhq.2	+	14	1481	c.1272C>A	c.(1270-1272)TGC>TGA	p.C424*	RGS3_uc004bhr.2_Nonsense_Mutation_p.C312*|RGS3_uc004bhs.2_Nonsense_Mutation_p.C314*|RGS3_uc004bht.2_Nonsense_Mutation_p.C143*|RGS3_uc010muy.2_Nonsense_Mutation_p.C143*|RGS3_uc004bhu.2_Nonsense_Mutation_p.C50*	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	424					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116276899	116276899	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116276899G>A	uc004bhq.2	+	16	1848	c.1639G>A	c.(1639-1641)GCC>ACC	p.A547T	RGS3_uc004bhr.2_Missense_Mutation_p.A435T|RGS3_uc004bhs.2_Missense_Mutation_p.A437T|RGS3_uc004bht.2_Missense_Mutation_p.A266T|RGS3_uc010muy.2_Missense_Mutation_p.A266T|RGS3_uc004bhu.2_Missense_Mutation_p.A173T	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	547					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ZNF618	114991	broad.mit.edu	37	9	116811442	116811442	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116811442G>T	uc004bid.2	+	15	1959	c.1860G>T	c.(1858-1860)CGG>CGT	p.R620R	ZNF618_uc004bic.2_Silent_p.R527R|ZNF618_uc011lxi.1_Silent_p.R587R|ZNF618_uc011lxj.1_Silent_p.R588R|ZNF618_uc010mvb.2_Silent_p.R210R	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	116930239	116930239	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116930239C>T	uc011lxl.1	+	3	404	c.404C>T	c.(403-405)ACG>ATG	p.T135M	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Translation_Start_Site	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	135	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4																		---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	116930829	116930829	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116930829G>A	uc011lxl.1	+	3	994	c.994G>A	c.(994-996)GCA>ACA	p.A332T	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.A182T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	332	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4																		---	---	---	---
ORM1	5004	broad.mit.edu	37	9	117085980	117085980	+	Missense_Mutation	SNP	G	A	A	rs146832261		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117085980G>A	uc004bik.3	+	2	263	c.152G>A	c.(151-153)CGA>CAA	p.R51Q	ORM1_uc011lxo.1_Missense_Mutation_p.R51Q	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	51					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)													---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117139520	117139520	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117139520G>A	uc004biq.3	-	2	702	c.567C>T	c.(565-567)GTC>GTT	p.V189V	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Silent_p.V108V|AKNA_uc004bir.3_Silent_p.V189V|AKNA_uc004bis.3_Silent_p.V189V|AKNA_uc010mve.2_Silent_p.V70V|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Silent_p.V189V|AKNA_uc004biw.1_Silent_p.V189V	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123165217	123165217	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123165217C>T	uc004bkf.2	-	34	5355	c.5174G>A	c.(5173-5175)CGC>CAC	p.R1725H	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R734H|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R1010H|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R1646H|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R990H|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R990H|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R990H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R1495H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1725					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
C5	727	broad.mit.edu	37	9	123742388	123742388	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123742388C>T	uc004bkv.2	-	28	3661	c.3631G>A	c.(3631-3633)GCT>ACT	p.A1211T		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1211					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)													---	---	---	---
PTGS1	5742	broad.mit.edu	37	9	125143952	125143952	+	Missense_Mutation	SNP	G	A	A	rs3842795	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125143952G>A	uc004bmg.1	+	7	823	c.688G>A	c.(688-690)GGC>AGC	p.G230S	PTGS1_uc011lys.1_Missense_Mutation_p.G205S|PTGS1_uc010mwb.1_Missense_Mutation_p.G121S|PTGS1_uc004bmf.1_Missense_Mutation_p.G230S|PTGS1_uc004bmh.1_Missense_Mutation_p.G121S|PTGS1_uc011lyt.1_Missense_Mutation_p.G121S	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	230					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)													---	---	---	---
OR1N1	138883	broad.mit.edu	37	9	125289221	125289221	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125289221A>C	uc004bmn.1	-	1	352	c.352T>G	c.(352-354)TAT>GAT	p.Y118D		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3																		---	---	---	---
OR1L1	26737	broad.mit.edu	37	9	125424142	125424142	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125424142C>T	uc011lza.1	+	1	298	c.298C>T	c.(298-300)CGC>TGC	p.R100C		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	100	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4																		---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126129579	126129579	+	Missense_Mutation	SNP	G	A	A	rs74778545	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126129579G>A	uc004bnx.1	+	5	975	c.883G>A	c.(883-885)GCC>ACC	p.A295T	CRB2_uc004bnw.1_Missense_Mutation_p.A295T	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	295	Extracellular (Potential).|EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1																		---	---	---	---
LHX2	9355	broad.mit.edu	37	9	126776328	126776328	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126776328A>G	uc004boe.1	+	2	948	c.209A>G	c.(208-210)GAC>GGC	p.D70G	LHX2_uc010mwi.1_Missense_Mutation_p.D70G	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	70	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
WDR38	401551	broad.mit.edu	37	9	127616498	127616498	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127616498C>A	uc004box.2	+	2	140	c.84C>A	c.(82-84)GCC>GCA	p.A28A	WDR38_uc011lzn.1_Intron|WDR38_uc011lzo.1_Silent_p.A28A|WDR38_uc011lzp.1_5'UTR	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	28	WD 1.										0																		---	---	---	---
PBX3	5090	broad.mit.edu	37	9	128725361	128725361	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128725361A>G	uc004bqb.2	+	8	1309	c.1193A>G	c.(1192-1194)TAC>TGC	p.Y398C	PBX3_uc004bqc.2_Missense_Mutation_p.Y217C|PBX3_uc004bqd.2_3'UTR|PBX3_uc011lzw.1_Missense_Mutation_p.Y323C|PBX3_uc011lzx.1_3'UTR|PBX3_uc004bqe.2_Missense_Mutation_p.Y306C	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	398				Y -> C (in Ref. 2; AAL09477).	anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
FAM129B	64855	broad.mit.edu	37	9	130269612	130269612	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130269612C>T	uc004brh.2	-	14	1955	c.1753G>A	c.(1753-1755)GCC>ACC	p.A585T	FAM129B_uc004bri.2_Missense_Mutation_p.A572T|FAM129B_uc004brj.3_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	585							protein binding				0																		---	---	---	---
TTC16	158248	broad.mit.edu	37	9	130486431	130486431	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130486431A>G	uc004brq.1	+	8	972	c.905A>G	c.(904-906)GAT>GGT	p.D302G	PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.D289G|TTC16_uc004brr.1_Missense_Mutation_p.D247G|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	302	TPR 5.						binding				0																		---	---	---	---
C9orf114	51490	broad.mit.edu	37	9	131589411	131589411	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131589411G>A	uc004bwd.2	-	4	294	c.268C>T	c.(268-270)CCG>TCG	p.P90S	C9orf114_uc004bwe.2_Missense_Mutation_p.P90S|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	90											0																		---	---	---	---
DOLPP1	57171	broad.mit.edu	37	9	131847515	131847515	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131847515G>A	uc004bxc.2	+	4	320	c.292G>A	c.(292-294)GGG>AGG	p.G98R	DOLPP1_uc004bxd.2_Missense_Mutation_p.G98R|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_5'Flank	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	98					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			skin(1)	1																		---	---	---	---
USP20	10868	broad.mit.edu	37	9	132637208	132637208	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132637208C>T	uc004bys.2	+	19	2233	c.2022C>T	c.(2020-2022)AAC>AAT	p.N674N	USP20_uc004byr.2_Silent_p.N674N|USP20_uc004byt.1_Silent_p.N674N	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	674					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)																---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133901719	133901719	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133901719C>T	uc004caa.1	+	2	519	c.421C>T	c.(421-423)CGC>TGC	p.R141C		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	141	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)														---	---	---	---
POMT1	10585	broad.mit.edu	37	9	134393862	134393862	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134393862G>A	uc004cav.2	+	14	1571	c.1369G>A	c.(1369-1371)GTC>ATC	p.V457I	POMT1_uc004cax.2_Missense_Mutation_p.V435I|POMT1_uc011mcj.1_Missense_Mutation_p.V213I|POMT1_uc004cau.2_Missense_Mutation_p.V435I|POMT1_uc004caw.2_Missense_Mutation_p.V381I|POMT1_uc011mck.1_Missense_Mutation_p.V318I|POMT1_uc011mcl.1_Missense_Mutation_p.V283I|POMT1_uc011mcm.1_Missense_Mutation_p.V405I|POMT1_uc011mcn.1_Missense_Mutation_p.V160I	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	457	MIR 3.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)														---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135102276	135102276	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135102276G>A	uc004cbh.2	+	4	1674	c.898G>A	c.(898-900)GAG>AAG	p.E300K		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	300	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)														---	---	---	---
C9orf98	158067	broad.mit.edu	37	9	135690055	135690055	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135690055T>C	uc004cbu.1	-	10	1505	c.949A>G	c.(949-951)ATC>GTC	p.I317V	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.I113V	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	317	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)														---	---	---	---
GTF3C5	9328	broad.mit.edu	37	9	135906432	135906432	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135906432G>A	uc004cci.3	+	1	371	c.34G>A	c.(34-36)GCC>ACC	p.A12T	GTF3C5_uc010mzz.2_5'UTR|GTF3C5_uc004ccj.3_Missense_Mutation_p.A12T	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	12						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)														---	---	---	---
SURF1	6834	broad.mit.edu	37	9	136219368	136219368	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136219368A>C	uc004cdh.1	-	7	716	c.684T>G	c.(682-684)CAT>CAG	p.H228Q	SURF1_uc004cdg.1_Missense_Mutation_p.H119Q	NM_003172	NP_003163	Q15526	SURF1_HUMAN	surfeit 1	228					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)	2				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)												OREG0019585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C9orf96	169436	broad.mit.edu	37	9	136262382	136262382	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136262382A>G	uc004cdk.2	+	10	1019	c.958A>G	c.(958-960)ACC>GCC	p.T320A	C9orf96_uc004cdl.2_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	320							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136662911	136662911	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136662911T>C	uc004ces.2	-	10	903	c.857A>G	c.(856-858)TAC>TGC	p.Y286C	VAV2_uc004cer.2_Missense_Mutation_p.Y281C	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	286	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137591897	137591897	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137591897C>T	uc004cfe.2	+	3	802	c.420C>T	c.(418-420)TAC>TAT	p.Y140Y		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	140	TSP N-terminal.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137710753	137710753	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137710753T>C	uc004cfe.2	+							NM_000093	NP_000084			alpha 1 type V collagen preproprotein						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
FCN1	2219	broad.mit.edu	37	9	137804344	137804344	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137804344G>T	uc004cfi.2	-	7	678	c.586C>A	c.(586-588)CTG>ATG	p.L196M		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	196	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)														---	---	---	---
OLFM1	10439	broad.mit.edu	37	9	138011566	138011566	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138011566C>T	uc010nar.2	+	6	1316	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C	OLFM1_uc004cfl.3_Missense_Mutation_p.R316C|OLFM1_uc004cfn.3_Missense_Mutation_p.R85C	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	334	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)														---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139278455	139278455	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139278455G>A	uc004chh.2	-	14	1459	c.1450C>T	c.(1450-1452)CCC>TCC	p.P484S		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	484	HTH myb-type 3.|H-T-H motif (By similarity).				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)														---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139401023	139401023	+	Missense_Mutation	SNP	C	T	T	rs149057410	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139401023C>T	uc004chz.2	-	24	3970	c.3970G>A	c.(3970-3972)GTG>ATG	p.V1324M	NOTCH1_uc004cia.1_Missense_Mutation_p.V554M	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1324	Extracellular (Potential).|EGF-like 34.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---
C9orf86	55684	broad.mit.edu	37	9	139726288	139726288	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139726288C>T	uc004cji.1	+	6	842	c.574C>T	c.(574-576)CGT>TGT	p.R192C	C9orf86_uc004cjm.2_Missense_Mutation_p.R192C|C9orf86_uc004cjh.2_Missense_Mutation_p.R192C|C9orf86_uc004cjj.1_Missense_Mutation_p.R192C|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.R192C|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R77C	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	192	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)														---	---	---	---
MAMDC4	158056	broad.mit.edu	37	9	139748023	139748023	+	Nonsense_Mutation	SNP	C	T	T	rs146167637	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139748023C>T	uc004cjs.2	+	4	405	c.355C>T	c.(355-357)CGA>TGA	p.R119*	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	119	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)														---	---	---	---
MAMDC4	158056	broad.mit.edu	37	9	139751755	139751755	+	Intron	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139751755G>T	uc004cjs.2	+						MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803			apical early endosomal glycoprotein precursor						protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)														---	---	---	---
C9orf139	401563	broad.mit.edu	37	9	139929124	139929124	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139929124G>A	uc004ckp.1	+	3	1705	c.191G>A	c.(190-192)AGG>AAG	p.R64K	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	hypothetical protein LOC401563	64											0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)														---	---	---	---
SLC34A3	142680	broad.mit.edu	37	9	140130434	140130434	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140130434G>A	uc004cmf.1	+	13	1552	c.1366G>A	c.(1366-1368)GCC>ACC	p.A456T	SLC34A3_uc011met.1_Missense_Mutation_p.A456T	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	456	Helical; Name=M6; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)												OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SLC34A3	142680	broad.mit.edu	37	9	140130512	140130512	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140130512G>A	uc004cmf.1	+	13	1630	c.1444G>A	c.(1444-1446)GCC>ACC	p.A482T	SLC34A3_uc011met.1_Missense_Mutation_p.A482T	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	482	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)												OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
C9orf173	441476	broad.mit.edu	37	9	140147666	140147666	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140147666G>A	uc004cmk.1	+	6	921	c.909G>A	c.(907-909)GCG>GCA	p.A303A	C9orf173_uc004cmj.1_Missense_Mutation_p.R299H|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Missense_Mutation_p.R243H|C9orf173_uc004cml.1_Silent_p.A248A|COBRA1_uc004cmm.3_5'Flank			Q8N7X2	CI173_HUMAN	SubName: Full=LOC441476 protein;	307										pancreas(1)	1																		---	---	---	---
TUBB8	347688	broad.mit.edu	37	10	93569	93569	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93569C>T	uc001ifi.2	-	4	763	c.763G>A	c.(763-765)GTG>ATG	p.V255M	TUBB8_uc009xhe.2_Missense_Mutation_p.V218M|TUBB8_uc010pzs.1_Missense_Mutation_p.V183M	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	255					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)														---	---	---	---
WDR37	22884	broad.mit.edu	37	10	1126020	1126020	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1126020T>C	uc001igf.1	+	4	478	c.305T>C	c.(304-306)CTG>CCG	p.L102P	WDR37_uc001ige.2_Missense_Mutation_p.L102P|WDR37_uc009xhm.1_Missense_Mutation_p.L102P|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	102											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)														---	---	---	---
NET1	10276	broad.mit.edu	37	10	5493800	5493800	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5493800G>T	uc001iia.2	+	4	401	c.263G>T	c.(262-264)AGC>ATC	p.S88I	NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Missense_Mutation_p.S34I|NET1_uc010qas.1_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	88					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1																		---	---	---	---
NET1	10276	broad.mit.edu	37	10	5494448	5494448	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5494448T>C	uc001iia.2	+	5	629	c.491T>C	c.(490-492)ATG>ACG	p.M164T	NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Missense_Mutation_p.M110T|NET1_uc010qas.1_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	164					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1																		---	---	---	---
C10orf18	54906	broad.mit.edu	37	10	5791573	5791573	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5791573G>A	uc001iij.2	+	15	6814	c.6189G>A	c.(6187-6189)CTG>CTA	p.L2063L	C10orf18_uc001iik.2_Silent_p.L907L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2063										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7759669	7759669	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7759669A>G	uc001ijs.2	+	6	710	c.548A>G	c.(547-549)TAC>TGC	p.Y183C		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	183	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7771947	7771947	+	Missense_Mutation	SNP	G	A	A	rs147442256		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7771947G>A	uc001ijs.2	+	12	1474	c.1312G>A	c.(1312-1314)GTT>ATT	p.V438I		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	438	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8006390	8006390	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8006390C>T	uc010qbd.1	+	3	917	c.917C>T	c.(916-918)TCC>TTC	p.S306F		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	306					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8056685	8056685	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8056685C>T	uc010qbd.1	+	7	2761	c.2761C>T	c.(2761-2763)CAC>TAC	p.H921Y		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	921					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12162823	12162823	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:12162823C>A	uc001ild.3	+	17	2795	c.2696C>A	c.(2695-2697)GCT>GAT	p.A899D		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	899					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)															---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13240764	13240764	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13240764A>G	uc001ima.2	+	16	2299	c.2198A>G	c.(2197-2199)AAA>AGA	p.K733R	MCM10_uc001imb.2_Missense_Mutation_p.K732R|MCM10_uc001imc.2_Missense_Mutation_p.K732R	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	733					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
BEND7	222389	broad.mit.edu	37	10	13523008	13523008	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13523008C>T	uc001imm.2	-	6	1095	c.798G>A	c.(796-798)GCG>GCA	p.A266A	BEND7_uc001imn.2_Silent_p.A27A|BEND7_uc001imo.3_Silent_p.A279A	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	318	BEN.						protein binding			ovary(1)|breast(1)	2																		---	---	---	---
FAM107B	83641	broad.mit.edu	37	10	14816491	14816491	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:14816491C>T	uc001ina.1	-	1	406	c.172G>A	c.(172-174)GCC>ACC	p.A58T	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4																		---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16992003	16992003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16992003G>A	uc001ioo.2	-	34	5129	c.5077C>T	c.(5077-5079)CGA>TGA	p.R1693*		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1693	CUB 11.				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)													---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17026127	17026127	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17026127G>A	uc001ioo.2	-	30	4554	c.4502C>T	c.(4501-4503)GCG>GTG	p.A1501V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1501	CUB 9.				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)													---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17152969	17152969	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17152969C>T	uc001ioo.2	-	9	1016	c.964G>A	c.(964-966)GTT>ATT	p.V322I		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	322	EGF-like 4; calcium-binding (Potential).				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)													---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25701295	25701295	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25701295G>A	uc001isj.2	+	4	1288	c.1228G>A	c.(1228-1230)GTC>ATC	p.V410I		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	410	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8																		---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887671	25887671	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25887671A>C	uc001isj.2	+	11	3176	c.3116A>C	c.(3115-3117)AAC>ACC	p.N1039T	GPR158_uc001isk.2_Missense_Mutation_p.N414T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1039	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8																		---	---	---	---
ACBD5	91452	broad.mit.edu	37	10	27512289	27512289	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27512289G>A	uc010qdp.1	-	5	659	c.468C>T	c.(466-468)GGC>GGT	p.G156G	ACBD5_uc010qdm.1_Silent_p.G154G|ACBD5_uc010qdn.1_Silent_p.G47G|ACBD5_uc010qdo.1_Silent_p.G47G|ACBD5_uc001ito.2_Silent_p.G121G|ACBD5_uc001itp.2_Silent_p.G47G|ACBD5_uc001itq.2_Silent_p.G47G|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	154					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0																		---	---	---	---
MKX	283078	broad.mit.edu	37	10	28030368	28030368	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28030368A>G	uc001ity.3	-	3	479	c.254T>C	c.(253-255)CTC>CCC	p.L85P	MKX_uc001itx.3_Missense_Mutation_p.L85P	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	85	Homeobox; TALE-type.				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
MKX	283078	broad.mit.edu	37	10	28030415	28030415	+	Silent	SNP	C	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28030415C>G	uc001ity.3	-	3	432	c.207G>C	c.(205-207)GGG>GGC	p.G69G	MKX_uc001itx.3_Silent_p.G69G	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	69					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29777554	29777554	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29777554T>C	uc001iut.1	-	23	5077	c.4324A>G	c.(4324-4326)AGG>GGG	p.R1442G	SVIL_uc010qdw.1_Missense_Mutation_p.R356G|SVIL_uc001iuu.1_Missense_Mutation_p.R1016G|SVIL_uc009xlc.2_Missense_Mutation_p.R234G	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1442	Gelsolin-like 1.|Interaction with NEB.				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)																---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29788162	29788162	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29788162T>C	uc001iut.1	-	18	4300	c.3547A>G	c.(3547-3549)ACG>GCG	p.T1183A	SVIL_uc010qdw.1_Missense_Mutation_p.T97A|SVIL_uc001iuu.1_Missense_Mutation_p.T757A|SVIL_uc009xlc.2_5'Flank	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1183					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)																---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30336508	30336508	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30336508G>A	uc001iux.2	-	1	293	c.234C>T	c.(232-234)GGC>GGT	p.G78G	KIAA1462_uc001iuy.2_Silent_p.G78G|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Silent_p.G78G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	78										ovary(4)	4																		---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38345312	38345312	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38345312T>C	uc001izh.2	+	5	2435	c.2257T>C	c.(2257-2259)TGC>CGC	p.C753R	ZNF33A_uc001izg.2_Missense_Mutation_p.C754R|ZNF33A_uc010qev.1_Missense_Mutation_p.C760R|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	753	C2H2-type 16.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46322015	46322015	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46322015A>T	uc001jcx.3	-	7	1466	c.1340T>A	c.(1339-1341)ATC>AAC	p.I447N	AGAP4_uc010qfl.1_Missense_Mutation_p.I470N|AGAP4_uc001jcy.3_Missense_Mutation_p.I362N|uc010qfm.1_5'Flank	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	447	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			ovary(1)	1																		---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48389993	48389993	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48389993C>T	uc001jez.2	-	1	999	c.885G>A	c.(883-885)ACG>ACA	p.T295T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	295	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)													---	---	---	---
DKK1	22943	broad.mit.edu	37	10	54074424	54074424	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:54074424T>C	uc001jjr.2	+	1	384	c.230T>C	c.(229-231)ATT>ACT	p.I77T	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	77					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3																OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55912943	55912943	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55912943G>A	uc001jju.1	-	14	2096	c.1701C>T	c.(1699-1701)ATC>ATT	p.I567I	PCDH15_uc010qhq.1_Silent_p.I572I|PCDH15_uc010qhr.1_Silent_p.I567I|PCDH15_uc010qhs.1_Silent_p.I579I|PCDH15_uc010qht.1_Silent_p.I574I|PCDH15_uc010qhu.1_Silent_p.I567I|PCDH15_uc001jjv.1_Silent_p.I545I|PCDH15_uc010qhv.1_Silent_p.I567I|PCDH15_uc010qhw.1_Silent_p.I530I|PCDH15_uc010qhx.1_Silent_p.I567I|PCDH15_uc010qhy.1_Silent_p.I572I|PCDH15_uc010qhz.1_Silent_p.I567I|PCDH15_uc010qia.1_Silent_p.I545I|PCDH15_uc010qib.1_Silent_p.I545I|PCDH15_uc001jjw.2_Silent_p.I567I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	567	Cadherin 5.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---
ANK3	288	broad.mit.edu	37	10	61846456	61846456	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61846456G>A	uc001jky.2	-	30	3919	c.3727C>T	c.(3727-3729)CGT>TGT	p.R1243C	ANK3_uc001jkw.2_Missense_Mutation_p.R377C|ANK3_uc009xpa.2_Missense_Mutation_p.R377C|ANK3_uc001jkx.2_Missense_Mutation_p.R421C|ANK3_uc010qih.1_Missense_Mutation_p.R1244C|ANK3_uc001jkz.3_Missense_Mutation_p.R1237C|ANK3_uc001jla.1_Missense_Mutation_p.R309C|ANK3_uc001jlb.1_Missense_Mutation_p.R761C	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1243					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573060	64573060	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64573060G>A	uc010qim.1	-	3	1492	c.1338C>T	c.(1336-1338)GGC>GGT	p.G446G	EGR2_uc010qin.1_Silent_p.G396G|EGR2_uc001jmi.2_Silent_p.G446G|EGR2_uc010qio.1_Silent_p.G459G|EGR2_uc009xph.2_Silent_p.G446G	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	446					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---
HKDC1	80201	broad.mit.edu	37	10	71010120	71010120	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71010120C>T	uc001jpf.3	+	11	1778	c.1645C>T	c.(1645-1647)CGG>TGG	p.R549W	HKDC1_uc010qje.1_Missense_Mutation_p.R412W	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	549					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5																		---	---	---	---
SGPL1	8879	broad.mit.edu	37	10	72633180	72633180	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72633180G>A	uc001jrm.2	+	12	1354	c.1132G>A	c.(1132-1134)GTC>ATC	p.V378I	SGPL1_uc009xqk.2_RNA	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	378	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)													---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73375330	73375330	+	Missense_Mutation	SNP	G	A	A	rs121908355		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73375330G>A	uc001jrx.3	+	10	1279	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	CDH23_uc001jrw.3_Missense_Mutation_p.R301Q|CDH23_uc009xql.2_Missense_Mutation_p.R346Q	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	301	Cadherin 3.|Extracellular (Potential).		R -> Q (in DFNB12).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11																		---	---	---	---
MYOZ1	58529	broad.mit.edu	37	10	75394429	75394429	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75394429G>T	uc001jur.2	-	4	680	c.315C>A	c.(313-315)TTC>TTA	p.F105L		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	105	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)																	---	---	---	---
DUPD1	338599	broad.mit.edu	37	10	76803726	76803726	+	Missense_Mutation	SNP	C	T	T	rs143238854	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76803726C>T	uc001jwq.1	-	2	250	c.250G>A	c.(250-252)GTG>ATG	p.V84M		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	84	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)																	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78651358	78651358	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78651358C>T	uc001jxn.2	-	26	3444	c.3267G>A	c.(3265-3267)CCG>CCA	p.P1089P	KCNMA1_uc001jxj.2_Silent_p.P1035P|KCNMA1_uc001jxk.1_Silent_p.P707P|KCNMA1_uc009xrt.1_Silent_p.P880P|KCNMA1_uc001jxl.1_Silent_p.P714P|KCNMA1_uc001jxo.2_Silent_p.P1072P|KCNMA1_uc001jxm.2_Silent_p.P1031P|KCNMA1_uc001jxq.2_Silent_p.P1061P|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1089	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)													---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78844418	78844418	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78844418C>T	uc001jxn.2	-	12	1677	c.1500G>A	c.(1498-1500)GCG>GCA	p.A500A	KCNMA1_uc001jxj.2_Silent_p.A500A|KCNMA1_uc001jxk.1_Silent_p.A115A|KCNMA1_uc009xrt.1_Silent_p.A320A|KCNMA1_uc001jxl.1_Silent_p.A154A|KCNMA1_uc001jxo.2_Silent_p.A500A|KCNMA1_uc001jxm.2_Silent_p.A500A|KCNMA1_uc001jxq.2_Silent_p.A500A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	500	RCK N-terminal.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)													---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79764517	79764517	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79764517T>G	uc001jzn.2	-	16	2298	c.2204A>C	c.(2203-2205)AAG>ACG	p.K735T		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	735					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)															---	---	---	---
NRG3	10718	broad.mit.edu	37	10	83635626	83635626	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:83635626C>T	uc001kco.2	+	1	557	c.530C>T	c.(529-531)GCC>GTC	p.A177V	NRG3_uc010qlz.1_Missense_Mutation_p.A177V|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	177	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)														---	---	---	---
GLUD1	2746	broad.mit.edu	37	10	88854214	88854214	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88854214T>G	uc001keh.2	-	1	410	c.313A>C	c.(313-315)ATC>CTC	p.I105L	FAM35A_uc001kei.3_5'Flank|GLUD1_uc001keg.2_5'Flank|GLUD1_uc010qmp.1_5'Flank	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	105					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
PANK1	53354	broad.mit.edu	37	10	91371452	91371452	+	Splice_Site	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91371452C>T	uc001kgp.1	-	2	1212	c.1056_splice	c.e2+1	p.M352_splice	PANK1_uc001kgn.1_Splice_Site_p.M127_splice|PANK1_uc001kgo.1_Splice_Site_p.M127_splice|PANK1_uc009xtu.1_Splice_Site_p.M154_splice	NM_148977	NP_683878			pantothenate kinase 1 isoform alpha						coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)													---	---	---	---
RPP30	10556	broad.mit.edu	37	10	92634643	92634643	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:92634643G>A	uc009xtx.2	+	2	135	c.100G>A	c.(100-102)GCT>ACT	p.A34T	RPP30_uc001khd.2_Missense_Mutation_p.A34T|RPP30_uc010qnj.1_Missense_Mutation_p.A34T	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	34					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0																		---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93608131	93608131	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93608131G>A	uc001khp.2	+							NM_025235	NP_079511			tankyrase, TRF1-interacting ankyrin-related						positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)																---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93749219	93749219	+	Silent	SNP	G	A	A	rs142341012		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93749219G>A	uc001khr.2	+	20	2834	c.2736G>A	c.(2734-2736)ACG>ACA	p.T912T	BTAF1_uc001khs.1_Silent_p.T582T|BTAF1_uc001kht.1_Silent_p.T350T	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	912					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)																---	---	---	---
CYP26A1	1592	broad.mit.edu	37	10	94836985	94836985	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94836985C>T	uc001kil.2	+	7	1463	c.1418C>T	c.(1417-1419)ACA>ATA	p.T473I	CYP26A1_uc001kik.1_Missense_Mutation_p.T404I|CYP26A1_uc001kim.1_Missense_Mutation_p.T371I	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	473					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)																---	---	---	---
BLNK	29760	broad.mit.edu	37	10	97951722	97951722	+	3'UTR	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97951722T>C	uc001kls.3	-	17					BLNK_uc001kme.3_3'UTR|BLNK_uc001klt.3_3'UTR|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_3'UTR|BLNK_uc001klv.3_3'UTR|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_3'UTR|BLNK_uc001kly.3_3'UTR|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_3'UTR|BLNK_uc001kmb.3_3'UTR|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_3'UTR|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446			B-cell linker isoform 1						B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)														---	---	---	---
ZDHHC16	84287	broad.mit.edu	37	10	99211969	99211969	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99211969C>T	uc001knj.2	+	4	715	c.366C>T	c.(364-366)AGC>AGT	p.S122S	ZDHHC16_uc001knp.2_Silent_p.S122S|ZDHHC16_uc001knk.2_Silent_p.S122S|ZDHHC16_uc001knl.2_Silent_p.S122S|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Silent_p.S122S|ZDHHC16_uc010qow.1_Silent_p.S122S|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Silent_p.S122S|ZDHHC16_uc009xvr.2_Silent_p.S122S	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Abl-philin 2 isoform 1	122	Helical; (Potential).				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)														---	---	---	---
SLC25A28	81894	broad.mit.edu	37	10	101370949	101370949	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101370949T>G	uc001kpx.2	-	4	881	c.752A>C	c.(751-753)GAG>GCG	p.E251A	SLC25A28_uc001kpy.2_Missense_Mutation_p.E64A	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	251	Solcar 2.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)														---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101455831	101455831	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101455831G>A	uc001kqa.3	+	9	1140	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	ENTPD7_uc009xwl.2_Missense_Mutation_p.R323Q	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	321	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)														---	---	---	---
PKD2L1	9033	broad.mit.edu	37	10	102054754	102054754	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102054754C>T	uc001kqx.1	-	8	1866	c.1483G>A	c.(1483-1485)GGC>AGC	p.G495S	PKD2L1_uc009xwm.1_Missense_Mutation_p.G448S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	495	Helical; (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)														---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104128078	104128078	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104128078C>T	uc001kux.1	+	22	2983	c.2743C>T	c.(2743-2745)CTG>TTG	p.L915L	GBF1_uc001kuy.1_Silent_p.L915L|GBF1_uc001kuz.1_Silent_p.L916L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	915					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)														---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105362048	105362048	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105362048G>A	uc001kxj.1	-	14	2983	c.2843C>T	c.(2842-2844)GCG>GTG	p.A948V	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.A783V|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.A825V|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.A783V|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.A891V	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	976					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)														---	---	---	---
ITPRIP	85450	broad.mit.edu	37	10	106074825	106074825	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106074825C>T	uc001kye.2	-	2	1058	c.985G>A	c.(985-987)GAC>AAC	p.D329N	ITPRIP_uc001kyf.2_Missense_Mutation_p.D329N|ITPRIP_uc001kyg.2_Missense_Mutation_p.D329N	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	329						plasma membrane					0																		---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108448006	108448006	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108448006G>A	uc001kym.2	-	10	1512	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C	SORCS1_uc001kyl.2_Missense_Mutation_p.R502C|SORCS1_uc009xxs.2_Missense_Mutation_p.R502C|SORCS1_uc001kyn.1_Missense_Mutation_p.R502C|SORCS1_uc001kyo.2_Missense_Mutation_p.R502C	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	502	Lumenal (Potential).|BNR 3.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)														---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114911564	114911564	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114911564T>G	uc001lae.3	+	10	1589	c.1082T>G	c.(1081-1083)ATG>AGG	p.M361R	TCF7L2_uc001lac.3_Missense_Mutation_p.M338R|TCF7L2_uc010qrk.1_Missense_Mutation_p.M338R|TCF7L2_uc010qrl.1_Missense_Mutation_p.M338R|TCF7L2_uc010qrm.1_Missense_Mutation_p.M361R|TCF7L2_uc010qrn.1_Missense_Mutation_p.M304R|TCF7L2_uc001lad.3_Missense_Mutation_p.M334R|TCF7L2_uc001lag.3_Missense_Mutation_p.M385R|TCF7L2_uc001laf.3_Missense_Mutation_p.M338R|TCF7L2_uc010qro.1_Missense_Mutation_p.M338R|TCF7L2_uc001lah.2_Missense_Mutation_p.M343R|TCF7L2_uc010qrp.1_Missense_Mutation_p.M338R|TCF7L2_uc010qrq.1_Missense_Mutation_p.M334R|TCF7L2_uc010qrr.1_Missense_Mutation_p.M276R|TCF7L2_uc010qrs.1_Missense_Mutation_p.M232R|TCF7L2_uc010qrt.1_Missense_Mutation_p.M232R|TCF7L2_uc010qru.1_Missense_Mutation_p.M260R|TCF7L2_uc010qrv.1_Missense_Mutation_p.M178R|TCF7L2_uc010qrw.1_Missense_Mutation_p.M65R|TCF7L2_uc010qrx.1_Missense_Mutation_p.M218R	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	361	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)														---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116602749	116602749	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116602749T>C	uc001lcb.2	+	6	915	c.580T>C	c.(580-582)TTA>CTA	p.L194L	FAM160B1_uc001lcc.2_Silent_p.L194L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	194										lung(1)	1																		---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116606441	116606441	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116606441C>T	uc001lcb.2	+	11	1857	c.1522C>T	c.(1522-1524)CCA>TCA	p.P508S	FAM160B1_uc001lcc.2_Missense_Mutation_p.P508S	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	508										lung(1)	1																		---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118441370	118441370	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118441370C>T	uc001lct.2	-	8	959	c.854G>A	c.(853-855)CGT>CAT	p.R285H	HSPA12A_uc001lcu.2_Missense_Mutation_p.R202H	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	285							ATP binding			ovary(1)	1				all cancers(201;0.0158)												OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PDZD8	118987	broad.mit.edu	37	10	119042787	119042787	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:119042787A>G	uc001lde.1	-	5	3656	c.3457T>C	c.(3457-3459)TCT>CCT	p.S1153P		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1153					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)														---	---	---	---
PRLHR	2834	broad.mit.edu	37	10	120354444	120354444	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120354444A>G	uc001ldp.1	-	2	452	c.313T>C	c.(313-315)TCC>CCC	p.S105P		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	105	Helical; Name=2; (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)														---	---	---	---
INPP5F	22876	broad.mit.edu	37	10	121586928	121586928	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121586928C>T	uc001leo.2	+	20	3201	c.3035C>T	c.(3034-3036)TCG>TTG	p.S1012L	INPP5F_uc001lep.2_Missense_Mutation_p.S402L	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1012							phosphoric ester hydrolase activity	p.S1012S(1)		ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)														---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124331836	124331836	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124331836C>T	uc001lgk.1	+	5	300	c.194C>T	c.(193-195)CCG>CTG	p.P65L	DMBT1_uc001lgl.1_Missense_Mutation_p.P65L|DMBT1_uc001lgm.1_Missense_Mutation_p.P65L|DMBT1_uc009xzz.1_Missense_Mutation_p.P65L|DMBT1_uc010qtx.1_Missense_Mutation_p.P65L|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	65			P -> L.		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---
CTBP2	1488	broad.mit.edu	37	10	126716332	126716332	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:126716332A>G	uc009yak.2	-						CTBP2_uc009yal.2_Intron|CTBP2_uc001lif.3_Intron|CTBP2_uc001lih.3_Intron|CTBP2_uc001lie.3_5'UTR	NM_001329	NP_001320			C-terminal binding protein 2 isoform 1						negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)														---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127730759	127730759	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127730759C>A	uc001ljk.2	-						ADAM12_uc010qul.1_Intron|ADAM12_uc001ljm.2_Missense_Mutation_p.G720V|ADAM12_uc001ljn.2_Missense_Mutation_p.G717V|ADAM12_uc001ljl.3_Missense_Mutation_p.G719V	NM_003474	NP_003465			ADAM metallopeptidase domain 12 isoform 1						cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)														---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	129160405	129160405	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129160405C>T	uc001ljt.2	+	33	3362	c.3298C>T	c.(3298-3300)CGC>TGC	p.R1100C	DOCK1_uc010qun.1_Missense_Mutation_p.R1121C|DOCK1_uc009yaq.2_Missense_Mutation_p.R95C	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1100					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)														---	---	---	---
PPP2R2D	55844	broad.mit.edu	37	10	133769302	133769302	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:133769302A>C	uc001lks.2	+	7	1341	c.1098A>C	c.(1096-1098)AAA>AAC	p.K366N	PPP2R2D_uc001lkr.2_Missense_Mutation_p.K172N|PPP2R2D_uc001lkt.2_Missense_Mutation_p.K172N|PPP2R2D_uc009yay.2_Missense_Mutation_p.K234N	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	399					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)														---	---	---	---
IRF7	3665	broad.mit.edu	37	11	613969	613969	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:613969G>C	uc001lqh.2	-	7	1118	c.748C>G	c.(748-750)CCC>GCC	p.P250A	IRF7_uc009ycb.2_Missense_Mutation_p.P144A|IRF7_uc010qwf.1_Missense_Mutation_p.P249A|IRF7_uc001lqf.2_5'UTR|IRF7_uc010qwg.1_5'UTR|IRF7_uc001lqg.2_Missense_Mutation_p.P263A|IRF7_uc001lqi.2_Intron|IRF7_uc010qwh.1_5'UTR	NM_001572	NP_001563	Q92985	IRF7_HUMAN	interferon regulatory factor 7 isoform a	250					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1263618	1263618	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1263618C>T	uc009ycr.1	+	47	7713	c.7587C>T	c.(7585-7587)CCC>CCT	p.P2529P	MUC5B_uc001ltb.2_Silent_p.P1839P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1836	7 X Cys-rich subdomain repeats.|Thr-rich.|Cys-rich subdomain 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)														---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1272678	1272678	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1272678C>T	uc009ycr.1	+	52	15660	c.15534C>T	c.(15532-15534)ACC>ACT	p.T5178T	MUC5B_uc001ltb.2_Silent_p.T4859T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4856	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)														---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3712640	3712640	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3712640T>G	uc001lyh.2	-	28	4682	c.4391A>C	c.(4390-4392)GAG>GCG	p.E1464A	NUP98_uc001lyi.2_Missense_Mutation_p.E1464A|NUP98_uc001lyg.2_Missense_Mutation_p.E429A	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1481					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)				T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3733808	3733808	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3733808C>T	uc001lyh.2	-	20	3019	c.2728G>A	c.(2728-2730)GCA>ACA	p.A910T	NUP98_uc001lyi.2_Missense_Mutation_p.A910T|NUP98_uc001lyj.1_Missense_Mutation_p.A910T|NUP98_uc001lyk.1_Missense_Mutation_p.A927T	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	927					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)				T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								---	---	---	---
OR52K1	390036	broad.mit.edu	37	11	4510535	4510535	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4510535G>A	uc001lza.1	+	1	405	c.405G>A	c.(403-405)ACG>ACA	p.T135T		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)														---	---	---	---
HBE1	3046	broad.mit.edu	37	11	5290793	5290793	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5290793A>G	uc001mal.1	-	2	459	c.206T>C	c.(205-207)CTG>CCG	p.L69P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.L69P	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	69					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR51I2	390064	broad.mit.edu	37	11	5474944	5474944	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5474944G>A	uc010qzf.1	+	1	226	c.226G>A	c.(226-228)GCC>ACC	p.A76T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	76	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR56B4	196335	broad.mit.edu	37	11	6129484	6129484	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6129484G>A	uc010qzx.1	+	1	476	c.476G>A	c.(475-477)GGC>GAC	p.G159D		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	159	Helical; Name=4; (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)														---	---	---	---
OR2D2	120776	broad.mit.edu	37	11	6913632	6913632	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6913632C>T	uc010rau.1	-	1	100	c.100G>A	c.(100-102)GTC>ATC	p.V34I		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---
RBMXL2	27288	broad.mit.edu	37	11	7111248	7111248	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7111248G>A	uc001mfc.2	+	1	1084	c.897G>A	c.(895-897)CCG>CCA	p.P299P		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	299	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
C11orf16	56673	broad.mit.edu	37	11	8947037	8947037	+	Missense_Mutation	SNP	C	T	T	rs143892206	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8947037C>T	uc001mhb.3	-	5	1301	c.1177G>A	c.(1177-1179)GGG>AGG	p.G393R	C11orf16_uc001mhc.3_Missense_Mutation_p.G393R	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	393										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)														---	---	---	---
TMEM9B	56674	broad.mit.edu	37	11	8969887	8969887	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8969887G>A	uc001mhe.1	-	5	706	c.577C>T	c.(577-579)CGG>TGG	p.R193W	TMEM9B_uc001mhf.1_Missense_Mutation_p.R119W|TMEM9B_uc010rbt.1_Missense_Mutation_p.R119W	NM_020644	NP_065695	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B precursor	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity				0				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)														---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9069032	9069032	+	Missense_Mutation	SNP	C	T	T	rs72550810	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9069032C>T	uc001mhh.1	-	15	1866	c.1786G>A	c.(1786-1788)GTC>ATC	p.V596I	SCUBE2_uc001mhi.1_Missense_Mutation_p.V625I|SCUBE2_uc001mhj.1_Missense_Mutation_p.V470I	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	596						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)														---	---	---	---
ARNTL	406	broad.mit.edu	37	11	13393835	13393835	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:13393835G>A	uc001mkr.2	+	13	1354	c.946G>A	c.(946-948)GCA>ACA	p.A316T	ARNTL_uc001mko.2_Missense_Mutation_p.A272T|ARNTL_uc001mkp.2_Missense_Mutation_p.A315T|ARNTL_uc001mkq.2_Missense_Mutation_p.A315T|ARNTL_uc001mks.2_Missense_Mutation_p.A273T|ARNTL_uc001mkt.2_Missense_Mutation_p.A316T|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Missense_Mutation_p.A273T|ARNTL_uc001mkw.2_Missense_Mutation_p.A273T|ARNTL_uc001mkx.2_Missense_Mutation_p.A314T	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	316					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)														---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17428178	17428178	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17428178G>A	uc001mnc.2	-	26	3446	c.3320C>T	c.(3319-3321)GCC>GTC	p.A1107V		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1107	Cytoplasmic (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)													---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17491700	17491700	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17491700G>A	uc001mnc.2	-	3	486	c.360C>T	c.(358-360)TCC>TCT	p.S120S	ABCC8_uc010rcy.1_Silent_p.S120S	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	120	Helical; Name=3; (By similarity).				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)													---	---	---	---
MYOD1	4654	broad.mit.edu	37	11	17741819	17741819	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17741819C>T	uc001mni.2	+	1	710	c.490C>T	c.(490-492)CTG>TTG	p.L164L		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	164					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3																		---	---	---	---
UEVLD	55293	broad.mit.edu	37	11	18587900	18587900	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18587900T>C	uc001mot.2	-	5	567	c.487A>G	c.(487-489)ACT>GCT	p.T163A	UEVLD_uc001mou.2_Missense_Mutation_p.T163A|UEVLD_uc010rde.1_Missense_Mutation_p.T33A|UEVLD_uc010rdf.1_Missense_Mutation_p.T141A|UEVLD_uc010rdg.1_Missense_Mutation_p.T33A|UEVLD_uc001mov.2_Missense_Mutation_p.T141A|UEVLD_uc010rdh.1_Missense_Mutation_p.T163A	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	ubiquitin-conjugating enzyme E2-like isoform a	163					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor				0																		---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26556078	26556078	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:26556078C>T	uc001mqt.3	+	9	1090	c.945C>T	c.(943-945)CGC>CGT	p.R315R	ANO3_uc010rdr.1_Silent_p.R299R|ANO3_uc010rds.1_Silent_p.R154R|ANO3_uc010rdt.1_Silent_p.R169R	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	315	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
METT5D1	196074	broad.mit.edu	37	11	28134963	28134963	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:28134963G>A	uc001msh.2	+	3	537	c.82G>A	c.(82-84)GTC>ATC	p.V28I	METT5D1_uc001msg.2_Missense_Mutation_p.V28I|METT5D1_uc001mse.2_Missense_Mutation_p.V28I|METT5D1_uc001msf.1_RNA	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	methyltransferase 5 domain containing 1 isoform	28							methyltransferase activity				0																		---	---	---	---
TCP11L1	55346	broad.mit.edu	37	11	33087459	33087459	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33087459C>T	uc001mud.2	+	8	1456	c.1056C>T	c.(1054-1056)GTC>GTT	p.V352V	TCP11L1_uc009yju.2_Silent_p.V167V|TCP11L1_uc010rei.1_Silent_p.V352V|TCP11L1_uc001mue.2_Silent_p.V352V|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	352											0																OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
HIPK3	10114	broad.mit.edu	37	11	33308232	33308232	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33308232C>T	uc001mul.1	+	2	542	c.272C>T	c.(271-273)GCT>GTT	p.A91V	HIPK3_uc001mum.1_Missense_Mutation_p.A91V|HIPK3_uc009yjv.1_Missense_Mutation_p.A91V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	91					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
HIPK3	10114	broad.mit.edu	37	11	33308858	33308858	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33308858C>T	uc001mul.1	+	2	1168	c.898C>T	c.(898-900)CGG>TGG	p.R300W	HIPK3_uc001mum.1_Missense_Mutation_p.R300W|HIPK3_uc009yjv.1_Missense_Mutation_p.R300W	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	300	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45671376	45671376	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45671376G>A	uc001mys.1	-	4	1769	c.1098C>T	c.(1096-1098)TAC>TAT	p.Y366Y		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	366	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)														---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45671881	45671881	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45671881C>T	uc001mys.1	-	4	1264	c.593G>A	c.(592-594)CGC>CAC	p.R198H		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	198	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)														---	---	---	---
GYLTL1B	120071	broad.mit.edu	37	11	45949777	45949777	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45949777C>T	uc001nbv.1	+	13	1915	c.1804C>T	c.(1804-1806)CGG>TGG	p.R602W	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R571W|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R602W|GYLTL1B_uc001nby.1_Missense_Mutation_p.R285W|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	602	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)														---	---	---	---
GYLTL1B	120071	broad.mit.edu	37	11	45949840	45949840	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45949840C>T	uc001nbv.1	+	13	1978	c.1867C>T	c.(1867-1869)CCA>TCA	p.P623S	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P592S|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P623S|GYLTL1B_uc001nby.1_Missense_Mutation_p.P306S|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	623	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)														---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	45967444	45967444	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45967444T>C	uc001ncc.3	-	14	2020	c.1396A>G	c.(1396-1398)ACT>GCT	p.T466A	PHF21A_uc001ncb.3_Intron|PHF21A_uc009ykx.2_Intron|PHF21A_uc001nce.2_Missense_Mutation_p.T467A|PHF21A_uc001nca.1_Missense_Mutation_p.T202A	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	466					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46837768	46837768	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46837768T>G	uc001ndi.1	-	4	549	c.439A>C	c.(439-441)ACA>CCA	p.T147P	CKAP5_uc009ylg.1_Missense_Mutation_p.T33P|CKAP5_uc001ndj.1_Missense_Mutation_p.T147P	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	147					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
MADD	8567	broad.mit.edu	37	11	47310991	47310991	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47310991C>T	uc001ner.1	+	17	2954	c.2763C>T	c.(2761-2763)AGC>AGT	p.S921S	MADD_uc001neq.2_Silent_p.S901S|MADD_uc001nev.1_Silent_p.S858S|MADD_uc001nes.1_Silent_p.S878S|MADD_uc001net.1_Silent_p.S921S|MADD_uc009yln.1_Silent_p.S858S|MADD_uc001neu.1_Silent_p.S858S|MADD_uc001nex.2_Silent_p.S921S|MADD_uc001nez.2_Silent_p.S858S|MADD_uc001new.2_Silent_p.S901S|MADD_uc009ylo.2_5'Flank	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	921					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)														---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47726206	47726206	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47726206G>A	uc001ngg.2	-	6	575	c.475C>T	c.(475-477)CGT>TGT	p.R159C	AGBL2_uc010rhq.1_Missense_Mutation_p.R121C|AGBL2_uc001ngh.1_Missense_Mutation_p.R103C	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	159					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48157734	48157734	+	Missense_Mutation	SNP	T	C	C	rs151134680		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48157734T>C	uc001ngp.3	+	9	2114	c.1759T>C	c.(1759-1761)TAT>CAT	p.Y587H	PTPRJ_uc010rhr.1_Missense_Mutation_p.Y32H	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	587	Extracellular (Potential).|Fibronectin type-III 6.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																		---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55035844T>C	uc010rid.1	+	4	660	c.574T>C	c.(574-576)TAC>CAC	p.Y192H		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	176						intracellular	zinc ion binding				0																		---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587205	55587205	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55587205G>A	uc010rin.1	+	1	100	c.100G>A	c.(100-102)GCC>ACC	p.A34T		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)																---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	56000654	56000654	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56000654T>C	uc010rjc.1	-	1	8	c.8A>G	c.(7-9)TAC>TGC	p.Y3C		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)																	---	---	---	---
APLNR	187	broad.mit.edu	37	11	57004240	57004240	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57004240A>G	uc001njo.2	-	1	688	c.239T>C	c.(238-240)GTG>GCG	p.V80A	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	80	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6																		---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57069355	57069355	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57069355G>A	uc001njr.2	-	8	5209	c.4897C>T	c.(4897-4899)CGG>TGG	p.R1633W	TNKS1BP1_uc001njp.2_Missense_Mutation_p.R205W|TNKS1BP1_uc001njq.2_Missense_Mutation_p.R206W|TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1633W	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1633	Nuclear localization signal (Potential).|Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57095279	57095279	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57095279C>A	uc001njt.2	-	14	1956	c.1689G>T	c.(1687-1689)GAG>GAT	p.E563D	TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	563	HMG box.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2																		---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57467412	57467412	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57467412G>A	uc001nkx.1	+	12	3313	c.2057G>A	c.(2056-2058)GGC>GAC	p.G686D	ZDHHC5_uc001nky.1_Missense_Mutation_p.G633D|ZDHHC5_uc001nkz.1_Missense_Mutation_p.G500D	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	686						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1																		---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995413	57995413	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57995413C>T	uc010rkd.1	-	1	935	c.935G>A	c.(934-936)CGT>CAT	p.R312H		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)																---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58893587	58893587	+	Nonsense_Mutation	SNP	C	T	T	rs147236932	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58893587C>T	uc001nnl.2	+	4	2260	c.2017C>T	c.(2017-2019)CGA>TGA	p.R673*	FAM111B_uc001nnm.2_Nonsense_Mutation_p.R643*|FAM111B_uc010rko.1_Nonsense_Mutation_p.R643*	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	673							catalytic activity			ovary(2)	2																		---	---	---	---
STX3	6809	broad.mit.edu	37	11	59559674	59559674	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59559674G>A	uc001nog.2	+	6	642	c.452G>A	c.(451-453)CGG>CAG	p.R151Q	STX3_uc010rkx.1_Missense_Mutation_p.R151Q|STX3_uc010rky.1_Missense_Mutation_p.R54Q|STX3_uc009ymt.1_Missense_Mutation_p.R54Q	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	151	Cytoplasmic (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2																		---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59629106	59629106	+	Silent	SNP	G	A	A	rs139772818	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59629106G>A	uc001noj.2	-	4	548	c.450C>T	c.(448-450)GAC>GAT	p.D150D		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	150					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
GPR44	11251	broad.mit.edu	37	11	60620738	60620738	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60620738A>G	uc001nqc.2	-	2	570	c.458T>C	c.(457-459)CTG>CCG	p.L153P		NM_004778	NP_004769	Q9Y5Y4	GPR44_HUMAN	G protein-coupled receptor 44	153	Helical; Name=4; (Potential).				immune response	integral to plasma membrane	N-formyl peptide receptor activity			ovary(1)	1																		---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60695270	60695270	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60695270C>T	uc001nqj.2	+	3	666	c.473C>T	c.(472-474)CCC>CTC	p.P158L	TMEM132A_uc001nqi.2_Missense_Mutation_p.P158L|TMEM132A_uc001nqk.2_Missense_Mutation_p.P171L|TMEM132A_uc001nql.1_Missense_Mutation_p.P171L	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	158	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1																		---	---	---	---
CD5	921	broad.mit.edu	37	11	60886386	60886386	+	Splice_Site	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60886386G>T	uc009ynk.2	+	4	504	c.401_splice	c.e4-1	p.E134_splice		NM_014207	NP_055022			CD5 molecule precursor						cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)														---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183572	61183572	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61183572C>A	uc001nrq.2	-						CPSF7_uc001nro.2_Intron|CPSF7_uc001nrp.2_Intron|CPSF7_uc001nrr.2_Intron	NM_001136040	NP_001129512			pre-mRNA cleavage factor I, 59 kDa subunit						mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1																		---	---	---	---
SCGB1A1	7356	broad.mit.edu	37	11	62186559	62186559	+	5'UTR	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62186559T>C	uc001ntj.2	+	1						NM_003357	NP_003348			secretoglobin, family 1A, member 1						embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity				0																		---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62297658	62297658	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62297658C>T	uc001ntl.2	-	5	4531	c.4231G>A	c.(4231-4233)GTT>ATT	p.V1411I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1411					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---
ROM1	6094	broad.mit.edu	37	11	62381962	62381962	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62381962A>G	uc001ntv.2	+	2	1364	c.823A>G	c.(823-825)ACC>GCC	p.T275A	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	275	Helical; (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
METTL12	751071	broad.mit.edu	37	11	62434242	62434242	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62434242C>A	uc001nug.1	+	3	701	c.442C>A	c.(442-444)CTG>ATG	p.L148M	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	148						mitochondrion	methyltransferase activity				0																		---	---	---	---
HNRNPUL2	221092	broad.mit.edu	37	11	62487636	62487636	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62487636G>A	uc001nuw.2	-	10	1832	c.1639C>T	c.(1639-1641)CGG>TGG	p.R547W	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	547					cell killing	nucleus	ATP binding|nucleic acid binding				0																		---	---	---	---
TTC9C	283237	broad.mit.edu	37	11	62496515	62496515	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62496515C>T	uc001nuy.2	+	1	564	c.195C>T	c.(193-195)AAC>AAT	p.N65N	HNRNPUL2_uc001nuu.1_5'Flank|HNRNPUL2_uc001nuw.2_5'Flank|TTC9C_uc001nux.2_Silent_p.N198N	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	65							binding			ovary(1)|pancreas(1)	2																		---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63137671	63137671	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63137671G>A	uc001nww.2	+	1	411	c.143G>A	c.(142-144)CGC>CAC	p.R48H	SLC22A9_uc001nwx.2_RNA	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	48	Extracellular (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3																		---	---	---	---
FLRT1	23769	broad.mit.edu	37	11	63884234	63884234	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63884234C>T	uc001nyi.1	+	2	836	c.495C>T	c.(493-495)ACC>ACT	p.T165T	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	137	LRR 4.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0																		---	---	---	---
NUDT22	84304	broad.mit.edu	37	11	63994403	63994403	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63994403C>A	uc001nyp.3	+	2	459	c.279C>A	c.(277-279)ACC>ACA	p.T93T	TRPT1_uc010rnc.1_5'Flank|TRPT1_uc010rnd.1_5'Flank|TRPT1_uc001nyn.2_5'Flank|TRPT1_uc001nyo.2_5'Flank|TRPT1_uc010rne.1_5'Flank|TRPT1_uc010rnf.1_5'Flank|NUDT22_uc009ypd.2_Silent_p.T93T|NUDT22_uc009ype.2_Silent_p.T93T|NUDT22_uc001nyq.3_Silent_p.T93T|NUDT22_uc010rng.1_5'Flank	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety	93							hydrolase activity				0																		---	---	---	---
SLC22A12	116085	broad.mit.edu	37	11	64367852	64367852	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64367852G>A	uc001oam.1	+	8	2046	c.1299G>A	c.(1297-1299)CTG>CTA	p.L433L	SLC22A12_uc001oal.1_Silent_p.L212L|SLC22A12_uc009yps.1_Silent_p.L399L|SLC22A12_uc001oan.1_Silent_p.L325L|SLC22A12_uc009ypt.2_Silent_p.L251L	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	433					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1																		---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64522768	64522768	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64522768G>A	uc001oax.3	-	7	1649	c.832C>T	c.(832-834)CGT>TGT	p.R278C	PYGM_uc001oay.3_Missense_Mutation_p.R190C	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	278					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)													---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64678286	64678286	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64678286T>C	uc001obx.2	-	11	1722	c.1607A>G	c.(1606-1608)TAC>TGC	p.Y536C		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	536							protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
PPP2R5B	5526	broad.mit.edu	37	11	64695857	64695857	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64695857C>T	uc001oby.2	+	6	1267	c.682C>T	c.(682-684)CGG>TGG	p.R228W	PPP2R5B_uc001obz.2_Missense_Mutation_p.R228W	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	228					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2																		---	---	---	---
SLC22A20	440044	broad.mit.edu	37	11	65000741	65000741	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65000741C>T	uc010roc.1	+	8	1167	c.1164C>T	c.(1162-1164)ACC>ACT	p.T388T		NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	388	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1																		---	---	---	---
FRMD8	83786	broad.mit.edu	37	11	65156922	65156922	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65156922G>A	uc001odu.3	+	3	368	c.176G>A	c.(175-177)CGC>CAC	p.R59H	FRMD8_uc009yqj.2_Intron|FRMD8_uc010rof.1_Missense_Mutation_p.R59H	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	59	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2																		---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65321528	65321528	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65321528C>T	uc001oej.2	-	2	924	c.655G>A	c.(655-657)GCA>ACA	p.A219T	LTBP3_uc010roi.1_Missense_Mutation_p.A102T|LTBP3_uc001oei.2_Missense_Mutation_p.A219T|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.A130T	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	219						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65396168	65396168	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65396168G>A	uc001oey.2	+	23	3805	c.3805G>A	c.(3805-3807)GTG>ATG	p.V1269M	PCNXL3_uc001oez.2_Missense_Mutation_p.V156M	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1269						integral to membrane					0																		---	---	---	---
GAL3ST3	89792	broad.mit.edu	37	11	65810516	65810516	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65810516C>T	uc001ogv.2	-	2	918	c.758G>A	c.(757-759)CGC>CAC	p.R253H	GAL3ST3_uc001ogw.2_Missense_Mutation_p.R253H	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	253	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1																		---	---	---	---
GAL3ST3	89792	broad.mit.edu	37	11	65810617	65810617	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65810617G>A	uc001ogv.2	-	2	817	c.657C>T	c.(655-657)GAC>GAT	p.D219D	GAL3ST3_uc001ogw.2_Silent_p.D219D	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	219	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1																		---	---	---	---
ADRBK1	156	broad.mit.edu	37	11	67047323	67047323	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67047323A>T	uc009yrn.1	+	6	721	c.455A>T	c.(454-456)GAG>GTG	p.E152V	ADRBK1_uc009yrm.1_Missense_Mutation_p.E152V	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	152	RGS.|N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)													---	---	---	---
PITPNM1	9600	broad.mit.edu	37	11	67269822	67269822	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67269822C>A	uc001olx.2	-	3	545	c.356G>T	c.(355-357)GGG>GTG	p.G119V	PITPNM1_uc001oly.2_Missense_Mutation_p.G119V|PITPNM1_uc001olz.2_Missense_Mutation_p.G119V	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	119					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3																		---	---	---	---
SAPS3	55291	broad.mit.edu	37	11	68355499	68355499	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68355499A>G	uc001onw.2	+						SAPS3_uc001onv.2_Intron|SAPS3_uc001ony.3_Intron|SAPS3_uc001onx.2_Intron|SAPS3_uc009ysh.2_Intron|SAPS3_uc001onu.2_Intron|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_Intron|SAPS3_uc001onz.2_Intron|SAPS3_uc001ooa.2_Intron	NM_001164161	NP_001157633			SAPS domain family, member 3 isoform 6						regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)															---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71719794	71719794	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71719794T>C	uc001orl.1	-	20	5328	c.5156A>G	c.(5155-5157)GAC>GGC	p.D1719G	NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.D1268G|NUMA1_uc001ork.1_Missense_Mutation_p.D583G|NUMA1_uc001orm.1_Missense_Mutation_p.D1705G|NUMA1_uc001orn.2_Missense_Mutation_p.D1282G	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1719					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8								T	RARA	APL								---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71720329	71720329	+	Silent	SNP	C	T	T	rs143949849		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71720329C>T	uc001orl.1	-	18	4996	c.4824G>A	c.(4822-4824)GAG>GAA	p.E1608E	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Silent_p.E1157E|NUMA1_uc001ork.1_Silent_p.E472E|NUMA1_uc001orm.1_Silent_p.E1594E|NUMA1_uc001orn.2_Silent_p.E1171E	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1608	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8								T	RARA	APL								---	---	---	---
CLPB	81570	broad.mit.edu	37	11	72091323	72091323	+	Splice_Site	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72091323A>G	uc001osj.2	-	4	696	c.646_splice	c.e4+1	p.D216_splice	CLPB_uc010rqx.1_Splice_Site_p.D171_splice|CLPB_uc010rqy.1_Splice_Site_p.V187_splice|CLPB_uc001osk.2_Splice_Site_p.V216_splice|CLPB_uc009ytg.2_Splice_Site|CLPB_uc010rqz.1_Splice_Site_p.V45_splice	NM_030813	NP_110440			caseinolytic peptidase B						cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1																		---	---	---	---
CHRDL2	25884	broad.mit.edu	37	11	74415529	74415529	+	Splice_Site	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74415529A>G	uc001ovi.2	-	7	1004	c.751_splice	c.e7+1	p.A251_splice	CHRDL2_uc001ovg.2_Splice_Site_p.A135_splice|CHRDL2_uc001ovh.2_Splice_Site_p.A251_splice|CHRDL2_uc001ovj.1_Intron|CHRDL2_uc001ovk.1_Splice_Site_p.E251_splice					RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;						cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)																	---	---	---	---
CHRDL2	25884	broad.mit.edu	37	11	74417543	74417543	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74417543G>T	uc001ovi.2	-	6	824	c.571C>A	c.(571-573)CTC>ATC	p.L191I	CHRDL2_uc001ovg.2_Missense_Mutation_p.L75I|CHRDL2_uc001ovh.2_Missense_Mutation_p.L191I|CHRDL2_uc001ovj.1_5'Flank|CHRDL2_uc001ovk.1_Missense_Mutation_p.L191I			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	191					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)																	---	---	---	---
SPCS2	9789	broad.mit.edu	37	11	74688037	74688037	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74688037T>C	uc001ovu.2	+	5	669	c.630T>C	c.(628-630)CCT>CCC	p.P210P		NM_014752	NP_055567	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog	210	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1																		---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75852178	75852178	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75852178G>A	uc001oxc.2	+	15	2062	c.1821G>A	c.(1819-1821)GGG>GGA	p.G607G	UVRAG_uc010rrw.1_Silent_p.G506G|UVRAG_uc001oxd.2_Silent_p.G235G|UVRAG_uc010rrx.1_Silent_p.G235G|UVRAG_uc010rry.1_Silent_p.G163G	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	607					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6																		---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76207359	76207359	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76207359A>G	uc001oxl.2	+	9	1352	c.1209A>G	c.(1207-1209)CAA>CAG	p.Q403Q	C11orf30_uc009yuj.1_Silent_p.Q418Q|C11orf30_uc010rsa.1_Silent_p.Q353Q|C11orf30_uc001oxm.2_Intron|C11orf30_uc010rsb.1_Silent_p.Q418Q|C11orf30_uc010rsc.1_Silent_p.Q418Q|C11orf30_uc001oxn.2_Silent_p.Q404Q|C11orf30_uc010rsd.1_Silent_p.Q417Q	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	403	Interaction with BRCA2.|Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6																		---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76371656	76371656	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76371656A>G	uc001oxq.3	-	3	1224	c.981T>C	c.(979-981)ATT>ATC	p.I327I	LRRC32_uc001oxr.3_Silent_p.I327I|LRRC32_uc010rsf.1_Silent_p.I327I	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	327	LRR 11.|Extracellular (Potential).					integral to plasma membrane					0																		---	---	---	---
CAPN5	726	broad.mit.edu	37	11	76825332	76825332	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76825332A>C	uc001oxx.2	+	5	736	c.551A>C	c.(550-552)GAC>GCC	p.D184A	CAPN5_uc009yup.2_Missense_Mutation_p.D224A|CAPN5_uc009yuq.2_Missense_Mutation_p.D220A|CAPN5_uc001oxy.2_Missense_Mutation_p.D224A	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	184	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0																OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77090970	77090970	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77090970A>G	uc001oyh.3	-	3	793	c.260T>C	c.(259-261)GTC>GCC	p.V87A	PAK1_uc010rso.1_5'UTR|PAK1_uc001oyg.3_Missense_Mutation_p.V87A|PAK1_uc001oyi.1_Missense_Mutation_p.V87A	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	87	CRIB.|GTPase-binding (By similarity).|Autoregulatory region.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)																	---	---	---	---
ODZ4	26011	broad.mit.edu	37	11	78412977	78412977	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:78412977G>A	uc001ozl.3	-	28	5144	c.4681C>T	c.(4681-4683)CGG>TGG	p.R1561W	ODZ4_uc009yvb.1_Missense_Mutation_p.R145W	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1561	NHL 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4																		---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83243744	83243744	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:83243744T>C	uc001paj.2	-						DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Intron|DLG2_uc010rtb.1_Intron|DLG2_uc010rsw.1_Intron|DLG2_uc010rsx.1_Intron	NM_001364	NP_001355			chapsyn-110 isoform 2							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)																---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93837908	93837908	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93837908G>C	uc001pep.2	+	16	3054	c.2897G>C	c.(2896-2898)AGA>ACA	p.R966T	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	966	Extracellular (Potential).|Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)																---	---	---	---
MMP3	4314	broad.mit.edu	37	11	102714181	102714181	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102714181G>A	uc001phj.1	-	1	162	c.97C>T	c.(97-99)CTT>TTT	p.L33F		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	33					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)													---	---	---	---
ALKBH8	91801	broad.mit.edu	37	11	107427630	107427630	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107427630G>A	uc010rvr.1	-	3	304	c.229C>T	c.(229-231)CCA>TCA	p.P77S	ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Missense_Mutation_p.P77S|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	77	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)														---	---	---	---
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	T	T	rs138398778		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108117798C>T	uc001pkb.1	+	8	1394	c.1009C>T	c.(1009-1011)CGT>TGT	p.R337C	ATM_uc009yxr.1_Missense_Mutation_p.R337C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(2)|p.R337S(2)|p.R337H(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)				D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111591703	111591703	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111591703T>C	uc001plt.2	+	12	1979	c.1861T>C	c.(1861-1863)TAT>CAT	p.Y621H		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	621					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3																		---	---	---	---
PPP2R1B	5519	broad.mit.edu	37	11	111597740	111597740	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111597740A>G	uc001plw.1	-	16	2037	c.1953T>C	c.(1951-1953)CTT>CTC	p.L651L	uc001plu.1_5'Flank|PPP2R1B_uc009yye.1_RNA|PPP2R1B_uc010rwi.1_Silent_p.L587L	NM_181699	NP_859050	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	Error:Variant_position_missing_in_P30154_after_alignment							protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)														---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113853876	113853876	+	Missense_Mutation	SNP	G	A	A	rs139646314		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113853876G>A	uc010rxb.1	+	5	660	c.427G>A	c.(427-429)GTG>ATG	p.V143M	HTR3A_uc010rxa.1_Missense_Mutation_p.V143M|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V122M	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	137	Extracellular (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)													---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117054505	117054505	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117054505T>A	uc001pqh.1	+	7	754	c.713T>A	c.(712-714)TTC>TAC	p.F238Y	SIDT2_uc010rxe.1_Missense_Mutation_p.F238Y|SIDT2_uc001pqg.2_Missense_Mutation_p.F238Y|SIDT2_uc001pqi.1_Missense_Mutation_p.F238Y	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	238	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)														---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117152859	117152859	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117152859G>A	uc001pqt.2	+	11	1630	c.1585G>A	c.(1585-1587)GCC>ACC	p.A529T	RNF214_uc001pqu.2_Missense_Mutation_p.A529T|RNF214_uc010rxf.1_Missense_Mutation_p.A374T	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	529	Pro-rich.						zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117302319	117302319	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117302319C>T	uc001prh.1	-	31	5487	c.5485G>A	c.(5485-5487)GTG>ATG	p.V1829M		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1769	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117303931	117303931	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117303931G>A	uc001prh.1	-	29	5131	c.5129C>T	c.(5128-5130)CCC>CTC	p.P1710L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1650	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---
CXCR5	643	broad.mit.edu	37	11	118765107	118765107	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118765107C>T	uc001pue.3	+	2	964	c.854C>T	c.(853-855)GCG>GTG	p.A285V	CXCR5_uc001puf.2_Missense_Mutation_p.A240V	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	285	Extracellular (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)														---	---	---	---
SC5DL	6309	broad.mit.edu	37	11	121177962	121177962	+	Missense_Mutation	SNP	G	A	A	rs148689830		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121177962G>A	uc001pxu.2	+	5	789	c.641G>A	c.(640-642)CGT>CAT	p.R214H	SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Missense_Mutation_p.R214H	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	214					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			ovary(1)	1		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)														---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310573	124310573	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310573A>G	uc010sal.1	-	1	409	c.409T>C	c.(409-411)TCT>CCT	p.S137P		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	137	Cytoplasmic (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)														---	---	---	---
TBRG1	84897	broad.mit.edu	37	11	124496862	124496862	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124496862T>A	uc001qak.3	+	5	892	c.654T>A	c.(652-654)AGT>AGA	p.S218R	TBRG1_uc001qaj.3_Missense_Mutation_p.S67R|TBRG1_uc001qal.3_5'UTR|TBRG1_uc001qam.3_RNA|TBRG1_uc009zbf.2_RNA|TBRG1_uc009zbg.2_Missense_Mutation_p.S67R|TBRG1_uc009zbh.2_5'UTR	NM_032811	NP_116200	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	218	FYR N-terminal.				cell cycle arrest|DNA replication|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization	nucleus	DNA binding|protein binding				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)														---	---	---	---
HEPACAM	220296	broad.mit.edu	37	11	124794736	124794736	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124794736G>A	uc001qbk.2	-	2	721	c.315C>T	c.(313-315)GGC>GGT	p.G105G	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Silent_p.G105G	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	105	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)														---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125484229	125484229	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125484229C>A	uc001qcd.2	+	15	1792	c.1682C>A	c.(1681-1683)TCC>TAC	p.S561Y	STT3A_uc001qce.2_Missense_Mutation_p.S561Y|STT3A_uc010sbg.1_Missense_Mutation_p.S469Y|STT3A_uc009zbn.2_Missense_Mutation_p.S283Y	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	561	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)														---	---	---	---
FOXRED1	55572	broad.mit.edu	37	11	126147409	126147409	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126147409T>C	uc001qdi.2	+	11	1333	c.1286T>C	c.(1285-1287)GTC>GCC	p.V429A	FOXRED1_uc010sbn.1_Missense_Mutation_p.V259A|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.V242A|FOXRED1_uc010sbq.1_Missense_Mutation_p.V296A|FOXRED1_uc001qdj.2_Missense_Mutation_p.V218A|FOXRED1_uc010sbr.1_Missense_Mutation_p.V415A|FOXRED1_uc001qdk.2_Missense_Mutation_p.V218A	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	429						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)														---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128842466	128842466	+	Missense_Mutation	SNP	C	T	T	rs148138101	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128842466C>T	uc009zcp.2	-	21	3893	c.3893G>A	c.(3892-3894)CGC>CAC	p.R1298H	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.R257H|ARHGAP32_uc001qez.2_Missense_Mutation_p.R949H	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1298					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																		---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128846512	128846512	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128846512T>C	uc009zcp.2	-	19	2098	c.2098A>G	c.(2098-2100)ACC>GCC	p.T700A	ARHGAP32_uc009zcq.1_Missense_Mutation_p.T660A|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.T351A	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	700					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																		---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128851443	128851443	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128851443C>A	uc009zcp.2	-	16	1606	c.1606G>T	c.(1606-1608)GAA>TAA	p.E536*	ARHGAP32_uc009zcq.1_Nonsense_Mutation_p.E496*|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Nonsense_Mutation_p.E187*	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	536	Rho-GAP.				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																		---	---	---	---
ST14	6768	broad.mit.edu	37	11	130060404	130060404	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130060404G>A	uc001qfw.2	+	7	883	c.690G>A	c.(688-690)ACG>ACA	p.T230T	ST14_uc010sca.1_Silent_p.T40T	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	230	Extracellular (Potential).|CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)													---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133791085	133791085	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133791085C>T	uc001qgx.3	-	18	2766	c.2535G>A	c.(2533-2535)ACG>ACA	p.T845T		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	845	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133794769	133794769	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133794769C>T	uc001qgx.3	-	15	2296	c.2065G>A	c.(2065-2067)GTC>ATC	p.V689I	IGSF9B_uc001qgy.1_Missense_Mutation_p.V531I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	689	Fibronectin type-III 2.|Extracellular (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---
JAM3	83700	broad.mit.edu	37	11	134014848	134014848	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134014848C>T	uc001qhb.1	+	5	730	c.706C>T	c.(706-708)CGC>TGC	p.R236C	JAM3_uc009zcz.1_Missense_Mutation_p.R185C	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	191	Extracellular (Potential).|Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)														---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134022911	134022911	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134022911G>T	uc001qhd.1	-	35	5031	c.4425C>A	c.(4423-4425)CCC>CCA	p.P1475P	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.P426Q	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1475					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)														---	---	---	---
GLB1L2	89944	broad.mit.edu	37	11	134212847	134212847	+	Splice_Site	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134212847T>C	uc001qhp.2	+	2	472	c.284_splice	c.e2+2	p.T95_splice		NM_138342	NP_612351			galactosidase, beta 1-like 2 precursor						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)														---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	416792	416792	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:416792G>A	uc001qif.1	-	23	4121	c.3758C>T	c.(3757-3759)GCT>GTT	p.A1253V	KDM5A_uc001qie.1_Missense_Mutation_p.A1253V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1253					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3								T 	NUP98	AML								---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	443551	443551	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:443551G>A	uc001qif.1	-	11	1709	c.1346C>T	c.(1345-1347)CCT>CTT	p.P449L	KDM5A_uc001qie.1_Missense_Mutation_p.P449L|KDM5A_uc010sdn.1_Missense_Mutation_p.P408L|KDM5A_uc010sdo.1_Missense_Mutation_p.P68L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	449	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3								T 	NUP98	AML								---	---	---	---
RAD52	5893	broad.mit.edu	37	12	1025516	1025516	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1025516T>C	uc001qis.1	-	9	973	c.859A>G	c.(859-861)AGT>GGT	p.S287G	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.S210G|RAD52_uc001qiu.1_Missense_Mutation_p.S287G|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_3'UTR	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	287					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)										Homologous_recombination					---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2705039	2705039	+	Splice_Site	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2705039G>T	uc009zdu.1	+	20	2977	c.2664_splice	c.e20-1	p.R888_splice	CACNA1C_uc009zdv.1_Splice_Site_p.R885_splice|CACNA1C_uc001qkb.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkc.2_Splice_Site_p.R888_splice|CACNA1C_uc001qke.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkf.2_Splice_Site_p.R888_splice|CACNA1C_uc001qjz.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkd.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkg.2_Splice_Site_p.R888_splice|CACNA1C_uc009zdw.1_Splice_Site_p.R888_splice|CACNA1C_uc001qkh.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkl.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkn.2_Splice_Site_p.R888_splice|CACNA1C_uc001qko.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkp.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkr.2_Splice_Site_p.R888_splice|CACNA1C_uc001qku.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkq.2_Splice_Site_p.R888_splice|CACNA1C_uc001qks.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkt.2_Splice_Site_p.R888_splice|CACNA1C_uc001qka.1_Splice_Site_p.R423_splice|CACNA1C_uc001qki.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkj.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkk.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkm.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkw.2_Splice_Site_p.R177_splice	NM_199460	NP_955630			calcium channel, voltage-dependent, L type,						axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)													---	---	---	---
VWF	7450	broad.mit.edu	37	12	6128544	6128544	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6128544A>G	uc001qnn.1	-	28	4290	c.4040T>C	c.(4039-4041)GTG>GCG	p.V1347A	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1347	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)													---	---	---	---
PLEKHG6	55200	broad.mit.edu	37	12	6427575	6427575	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6427575C>T	uc001qnr.2	+	11	1412	c.1264C>T	c.(1264-1266)CGA>TGA	p.R422*	PLEKHG6_uc001qns.2_Nonsense_Mutation_p.R422*|PLEKHG6_uc010sew.1_Nonsense_Mutation_p.R422*|PLEKHG6_uc010sex.1_Nonsense_Mutation_p.R390*	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	422	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2																		---	---	---	---
GPR162	27239	broad.mit.edu	37	12	6934773	6934773	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6934773G>A	uc001qqw.1	+	3	1527	c.992G>A	c.(991-993)CGC>CAC	p.R331H	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.R47H|GPR162_uc009zfd.1_Missense_Mutation_p.R27H|GPR162_uc001qqy.1_Missense_Mutation_p.R27H	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	331	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3																OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GPR162	27239	broad.mit.edu	37	12	6935968	6935968	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6935968C>A	uc001qqw.1	+	5	1901	c.1366C>A	c.(1366-1368)CTG>ATG	p.L456M	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.L172M|GPR162_uc009zfd.1_Missense_Mutation_p.L152M|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	456	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
LRRC23	10233	broad.mit.edu	37	12	7015123	7015123	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7015123G>A	uc001qrt.3	+						LRRC23_uc001qrn.1_Intron|LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.2_Intron|LRRC23_uc001qrq.2_Intron|LRRC23_uc001qrr.2_Intron|LRRC23_uc001qrs.2_Intron|LRRC23_uc009zfh.2_Intron	NM_001135217	NP_001128689			leucine rich repeat containing 23 isoform a											ovary(1)	1																		---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7548682	7548682	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7548682G>A	uc001qsy.2	-						CD163L1_uc010sge.1_Intron	NM_174941	NP_777601			scavenger receptor cysteine-rich type 1							extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11																		---	---	---	---
SLC2A14	144195	broad.mit.edu	37	12	7984225	7984225	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7984225C>T	uc001qtk.2	-	9	1109	c.316G>A	c.(316-318)GGA>AGA	p.G106R	SLC2A14_uc001qtl.2_Missense_Mutation_p.G83R|SLC2A14_uc001qtm.2_Missense_Mutation_p.G83R|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Missense_Mutation_p.G106R|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.G121R	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	106	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)												OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
FAM90A1	55138	broad.mit.edu	37	12	8374755	8374755	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8374755G>A	uc001qui.2	-	7	1617	c.1058C>T	c.(1057-1059)CCC>CTC	p.P353L	FAM90A1_uc001quh.2_Missense_Mutation_p.P353L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	353							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)														---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9000136	9000136	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9000136C>A	uc001quz.3	+						A2ML1_uc001qva.1_Intron|A2ML1_uc010sgm.1_Intron	NM_144670	NP_653271			alpha-2-macroglobulin-like 1 precursor							extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
MIR613	693198	broad.mit.edu	37	12	12917591	12917591	+	RNA	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12917591C>T	hsa-mir-613|MI0003626	+			c.9C>T			DDX47_uc001rav.2_Intron|APOLD1_uc001rau.3_Intron																	0																		---	---	---	---
GSG1	83445	broad.mit.edu	37	12	13238096	13238096	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13238096G>T	uc001rbn.2	-	7	1001	c.828C>A	c.(826-828)TTC>TTA	p.F276L	GSG1_uc001rbj.2_Missense_Mutation_p.F240L|GSG1_uc001rbk.2_Missense_Mutation_p.Q282K|GSG1_uc001rbl.2_Missense_Mutation_p.F212L|GSG1_uc001rbm.2_Missense_Mutation_p.F189L|GSG1_uc001rbo.2_Missense_Mutation_p.Q318K|GSG1_uc001rbp.2_Missense_Mutation_p.F253L|GSG1_uc001rbq.1_Missense_Mutation_p.Q318K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	263						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)														---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20766556	20766556	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20766556C>T	uc001reh.1	+	3	1213	c.1191C>T	c.(1189-1191)CCC>CCT	p.P397P		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	397					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)													---	---	---	---
SLCO1A2	6579	broad.mit.edu	37	12	21448696	21448696	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21448696C>T	uc001rer.2	-	9	1357	c.1106G>A	c.(1105-1107)GGA>GAA	p.G369E	SLCO1A2_uc001res.2_Missense_Mutation_p.G369E|SLCO1A2_uc010siq.1_Missense_Mutation_p.G237E|SLCO1A2_uc010sio.1_Missense_Mutation_p.G237E|SLCO1A2_uc010sip.1_Missense_Mutation_p.G237E|SLCO1A2_uc001ret.2_Missense_Mutation_p.G367E|SLCO1A2_uc001reu.2_Missense_Mutation_p.G349E	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	369	Helical; Name=8; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---
GYS2	2998	broad.mit.edu	37	12	21693395	21693395	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21693395C>T	uc001rfb.2	-	14	2013	c.1758G>A	c.(1756-1758)AGG>AGA	p.R586R		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	586					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2																		---	---	---	---
ST8SIA1	6489	broad.mit.edu	37	12	22354586	22354586	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22354586A>G	uc001rfo.3	-	5	1453	c.971T>C	c.(970-972)ATG>ACG	p.M324T	ST8SIA1_uc009zix.2_Missense_Mutation_p.M181T	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	324	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3																		---	---	---	---
KIAA0528	9847	broad.mit.edu	37	12	22610107	22610107	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22610107G>A	uc001rfq.2	-						KIAA0528_uc010sir.1_Intron|KIAA0528_uc010sis.1_Intron|KIAA0528_uc010sit.1_Intron|KIAA0528_uc010siu.1_Intron|KIAA0528_uc001rfr.2_Intron	NM_014802	NP_055617			hypothetical protein LOC9847								protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26572040	26572040	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26572040G>A	uc001rhg.2	-	50	7469	c.7052C>T	c.(7051-7053)GCG>GTG	p.A2351V	ITPR2_uc009zjg.1_Missense_Mutation_p.A502V	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2351	Extracellular (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---
FGFR1OP2	26127	broad.mit.edu	37	12	27113500	27113500	+	Missense_Mutation	SNP	G	A	A	rs144332739	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27113500G>A	uc001rhm.2	+	5	791	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	FGFR1OP2_uc001rhl.2_Missense_Mutation_p.R150Q|FGFR1OP2_uc001rhn.2_Intron	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	150						cytoplasm					0	Colorectal(261;0.0847)																	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31254802	31254802	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31254802C>T	uc001rjt.1	+	21	2339	c.2088C>T	c.(2086-2088)TGC>TGT	p.C696C	DDX11_uc001rjr.1_Silent_p.C696C|DDX11_uc001rjs.1_Intron|DDX11_uc001rju.1_Silent_p.C368C|DDX11_uc001rjv.1_Silent_p.C696C|DDX11_uc001rjw.1_Silent_p.C670C|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	696					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)														Multiple Myeloma(12;0.14)			---	---	---	---
C12orf35	55196	broad.mit.edu	37	12	32138395	32138395	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32138395G>A	uc001rks.2	+	4	4920	c.4506G>A	c.(4504-4506)GTG>GTA	p.V1502V	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1502										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)															---	---	---	---
FGD4	121512	broad.mit.edu	37	12	32777363	32777363	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32777363C>T	uc001rkz.2	+	12	1996	c.1519C>T	c.(1519-1521)CAA>TAA	p.Q507*	FGD4_uc001rlc.2_Nonsense_Mutation_p.Q592*|FGD4_uc001rky.2_Nonsense_Mutation_p.Q259*|FGD4_uc001rla.2_Nonsense_Mutation_p.Q163*|FGD4_uc010ske.1_Nonsense_Mutation_p.Q619*|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	507	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)																	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40702507	40702507	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40702507T>C	uc001rmg.3	+						LRRK2_uc009zjw.2_Intron|LRRK2_uc001rmi.2_Intron	NM_198578	NP_940980			leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)																---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43837660	43837660	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43837660C>T	uc010skx.1	-	16	2224	c.2224G>A	c.(2224-2226)GCA>ACA	p.A742T		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	742	Spacer.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)														---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44782314	44782314	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44782314C>T	uc001rod.2	+	8	1470	c.1404C>T	c.(1402-1404)TGC>TGT	p.C468C	TMEM117_uc001roe.2_Silent_p.C364C|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	468						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46211569	46211569	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46211569G>A	uc001ros.1	+	5	535	c.535G>A	c.(535-537)GTA>ATA	p.V179I	ARID2_uc001ror.2_Missense_Mutation_p.V179I	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	179					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
SFRS2IP	9169	broad.mit.edu	37	12	46322307	46322307	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46322307A>G	uc001rox.2	-	11	1464	c.1177T>C	c.(1177-1179)TCT>CCT	p.S393P	SFRS2IP_uc001row.2_Missense_Mutation_p.S78P|SFRS2IP_uc001roy.1_Missense_Mutation_p.S467P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	393					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48501948	48501948	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48501948C>T	uc001rrb.1	+	3	400	c.176C>T	c.(175-177)ACC>ATC	p.T59I	SENP1_uc001rqw.2_5'Flank|SENP1_uc001rqx.2_5'Flank|SENP1_uc001rqy.2_5'Flank|SENP1_uc001rqz.2_5'Flank|SENP1_uc009zkx.2_5'Flank|PFKM_uc001rra.1_5'UTR	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	Error:Variant_position_missing_in_P08237_after_alignment					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4																		---	---	---	---
ZNF641	121274	broad.mit.edu	37	12	48737327	48737327	+	Nonsense_Mutation	SNP	G	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48737327G>C	uc001rrn.1	-	6	911	c.746C>G	c.(745-747)TCA>TGA	p.S249*	ZNF641_uc001rro.1_Nonsense_Mutation_p.S235*|ZNF641_uc010sls.1_Nonsense_Mutation_p.S226*	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	249	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
DDX23	9416	broad.mit.edu	37	12	49225894	49225894	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49225894G>A	uc001rsm.2	-	15	2122	c.2031C>T	c.(2029-2031)TGC>TGT	p.C677C		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	677	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6																		---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49434444	49434444	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49434444C>T	uc001rta.3	-	31	7109	c.7109G>A	c.(7108-7110)CGC>CAC	p.R2370H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2370	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49722991	49722991	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49722991G>A	uc001rtx.3	+	10	1235	c.1068G>A	c.(1066-1068)CGG>CGA	p.R356R	TROAP_uc009zlh.2_Silent_p.R356R|TROAP_uc001rty.2_Silent_p.R64R	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	356					cell adhesion	cytoplasm				ovary(1)	1																		---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49937067	49937067	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49937067G>A	uc001ruh.1	+	5	849	c.589G>A	c.(589-591)GGG>AGG	p.G197R	KCNH3_uc010smj.1_Missense_Mutation_p.G137R	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	197	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0																		---	---	---	---
AQP6	363	broad.mit.edu	37	12	50369362	50369362	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50369362G>A	uc001rvr.1	+	4	1094	c.757G>A	c.(757-759)GTA>ATA	p.V253I	AQP6_uc001rvp.1_Missense_Mutation_p.V79I|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	253	Cytoplasmic (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0																		---	---	---	---
BIN2	51411	broad.mit.edu	37	12	51678494	51678494	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51678494T>C	uc001ryg.2	-						BIN2_uc009zlz.2_Intron|BIN2_uc001ryh.2_Intron|BIN2_uc010sng.1_Intron	NM_016293	NP_057377			bridging integrator 2							cytoplasm	protein binding			ovary(1)	1																		---	---	---	---
SLC4A8	9498	broad.mit.edu	37	12	51844755	51844755	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51844755C>T	uc001rys.1	+	3	404	c.226C>T	c.(226-228)CGG>TGG	p.R76W	SLC4A8_uc010sni.1_Missense_Mutation_p.R23W|SLC4A8_uc001rym.2_Missense_Mutation_p.R23W|SLC4A8_uc001ryn.2_Missense_Mutation_p.R23W|SLC4A8_uc001ryo.2_Missense_Mutation_p.R23W|SLC4A8_uc001ryp.1_Missense_Mutation_p.R23W|SLC4A8_uc010snj.1_Missense_Mutation_p.R103W|SLC4A8_uc001ryq.3_Missense_Mutation_p.R76W|SLC4A8_uc001ryr.2_Missense_Mutation_p.R76W|SLC4A8_uc010snk.1_Missense_Mutation_p.R23W	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	76	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)														---	---	---	---
KRT2	3849	broad.mit.edu	37	12	53044214	53044214	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53044214T>C	uc001sat.2	-	2	742	c.709A>G	c.(709-711)AAG>GAG	p.K237E		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	237	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)														---	---	---	---
KRT8	3856	broad.mit.edu	37	12	53295004	53295004	+	Splice_Site	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53295004C>A	uc001sbd.2	-	3	637	c.534_splice	c.e3-1	p.K178_splice	KRT8_uc009zmj.2_Splice_Site_p.K178_splice|KRT8_uc009zmk.1_Splice_Site_p.K206_splice|KRT8_uc009zml.1_Splice_Site_p.K178_splice|KRT8_uc009zmm.1_Splice_Site_p.K178_splice	NM_002273	NP_002264			keratin 8						cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
SP7	121340	broad.mit.edu	37	12	53722463	53722463	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53722463C>T	uc001sct.2	-	2	870	c.763G>A	c.(763-765)GGG>AGG	p.G255R	SP7_uc001scu.2_Missense_Mutation_p.G237R|SP7_uc001scv.2_Missense_Mutation_p.G255R	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
SP1	6667	broad.mit.edu	37	12	53776718	53776718	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53776718T>C	uc001scw.2	+	3	1084	c.987T>C	c.(985-987)ACT>ACC	p.T329T	SP1_uc010sog.1_Silent_p.T322T	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	329	Transactivation domain B (Gln-rich).|Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)														---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57537482	57537482	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57537482C>T	uc001snd.2	+	4	815	c.349C>T	c.(349-351)CGC>TGC	p.R117C	LRP1_uc010sre.1_Missense_Mutation_p.R117C|LRP1_uc001snb.2_Missense_Mutation_p.R117C|LRP1_uc001snc.1_Missense_Mutation_p.R117C	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	117	EGF-like 1.|Extracellular (Potential).				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)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57577935	57577935	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57577935C>A	uc001snd.2	+	37	6463	c.5997C>A	c.(5995-5997)CGC>CGA	p.R1999R		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1999	LDL-receptor class B 18.|Extracellular (Potential).				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)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57602495	57602495	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57602495A>G	uc001snd.2	+	78	12506	c.12040A>G	c.(12040-12042)ACC>GCC	p.T4014A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	4014	LDL-receptor class B 33.|Extracellular (Potential).				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)													---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58024121	58024121	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58024121A>G	uc001spg.1	-						B4GALNT1_uc010sru.1_Intron|B4GALNT1_uc010srv.1_Intron|B4GALNT1_uc001sph.2_Intron|B4GALNT1_uc001spi.2_Intron	NM_001478	NP_001469			beta-1,4-N-acetyl-galactosaminyl transferase 1						lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)															---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58124646	58124646	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58124646C>T	uc001spq.2	-	11	2236	c.2236G>A	c.(2236-2238)GCC>ACC	p.A746T	AGAP2_uc001spp.2_Missense_Mutation_p.A746T|AGAP2_uc001spr.2_Missense_Mutation_p.A410T	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	746	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5																		---	---	---	---
FAM119B	25895	broad.mit.edu	37	12	58174183	58174183	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58174183C>T	uc001sqg.2	+	3	560	c.435C>T	c.(433-435)GAC>GAT	p.D145D	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	145						integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)																	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62943525	62943525	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62943525G>A	uc001sre.2	+	23	3222	c.2831G>A	c.(2830-2832)TGC>TAC	p.C944Y	MON2_uc009zqj.2_Missense_Mutation_p.C944Y|MON2_uc010ssl.1_Missense_Mutation_p.C872Y|MON2_uc010ssm.1_Missense_Mutation_p.C921Y|MON2_uc010ssn.1_Missense_Mutation_p.C944Y|MON2_uc001srf.2_Missense_Mutation_p.C707Y	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	945					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)														---	---	---	---
PPM1H	57460	broad.mit.edu	37	12	63195794	63195794	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:63195794G>A	uc001srk.3	-	3	707	c.558C>T	c.(556-558)GTC>GTT	p.V186V		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	186	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)														---	---	---	---
GNS	2799	broad.mit.edu	37	12	65113872	65113872	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65113872T>C	uc001ssg.3	-	13	1680	c.1510A>G	c.(1510-1512)AAC>GAC	p.N504D	GNS_uc001ssf.2_Missense_Mutation_p.N448D|GNS_uc010ssq.1_Missense_Mutation_p.N536D|GNS_uc010ssr.1_Missense_Mutation_p.N484D	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	504						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)														---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67692780	67692780	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:67692780T>C	uc001stn.2	+	7	1342	c.905T>C	c.(904-906)CTT>CCT	p.L302P	CAND1_uc001sto.2_5'UTR	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	302	HEAT 8.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)														---	---	---	---
TSPAN8	7103	broad.mit.edu	37	12	71531789	71531789	+	Missense_Mutation	SNP	C	T	T	rs148575105		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71531789C>T	uc009zrt.1	-	5	550	c.388G>A	c.(388-390)GCC>ACC	p.A130T	TSPAN8_uc001swk.1_Missense_Mutation_p.A130T|TSPAN8_uc001swj.1_Missense_Mutation_p.A130T	NM_004616	NP_004607	P19075	TSN8_HUMAN	transmembrane 4 superfamily member 3	130	Extracellular (Potential).				protein glycosylation	integral to membrane|lysosome	signal transducer activity			skin(2)|lung(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)															---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83379735	83379735	+	Silent	SNP	C	T	T	rs148211417		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83379735C>T	uc001szt.2	+	8	2412	c.1980C>T	c.(1978-1980)CCC>CCT	p.P660P	TMTC2_uc001szs.1_Silent_p.P660P|TMTC2_uc010suk.1_Silent_p.P415P	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	660	TPR 6.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94562942	94562942	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:94562942A>G	uc001tdc.2	+	2	1325	c.1076A>G	c.(1075-1077)CAA>CGA	p.Q359R		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	359	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
APAF1	317	broad.mit.edu	37	12	99126270	99126270	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:99126270G>A	uc001tfz.2	+	27	4250	c.3673G>A	c.(3673-3675)GTG>ATG	p.V1225M	APAF1_uc001tfy.2_Missense_Mutation_p.V1214M|APAF1_uc001tga.2_Missense_Mutation_p.V1171M|APAF1_uc001tgb.2_Missense_Mutation_p.V1182M|APAF1_uc001tgc.2_3'UTR|APAF1_uc009zto.2_Missense_Mutation_p.V549M	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	1225					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)													---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100502332	100502332	+	Intron	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100502332A>T	uc001tgq.2	-						UHRF1BP1L_uc001tgr.2_Intron	NM_015054	NP_055869			UHRF1 (ICBP90) binding protein 1-like isoform a											ovary(2)	2																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101736764	101736764	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101736764G>A	uc001tia.1	+	35	4498	c.4342G>A	c.(4342-4344)GTT>ATT	p.V1448I		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1448					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
SPIC	121599	broad.mit.edu	37	12	101880330	101880330	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101880330C>T	uc001tid.2	+	6	687	c.528C>T	c.(526-528)TAC>TAT	p.Y176Y	SPIC_uc009zua.2_Silent_p.Y51Y|SPIC_uc010svp.1_Silent_p.Y175Y	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	176	ETS.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104044321	104044321	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104044321C>A	uc001tjw.2	+	11	1408	c.1222C>A	c.(1222-1224)CTG>ATG	p.L408M		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	408	Extracellular (Potential).|FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14																		---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104071360	104071360	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104071360G>A	uc001tjw.2	+	25	2962	c.2776G>A	c.(2776-2778)GCA>ACA	p.A926T		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	926	Extracellular (Potential).|EGF-like 9.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14																		---	---	---	---
NUAK1	9891	broad.mit.edu	37	12	106532257	106532257	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106532257C>A	uc001tlj.1	-	1	1555	c.175G>T	c.(175-177)GAG>TAG	p.E59*		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	59	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MTERFD3	80298	broad.mit.edu	37	12	107372251	107372251	+	Missense_Mutation	SNP	G	A	A	rs35548605	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107372251G>A	uc001tme.1	-	2	2061	c.242C>T	c.(241-243)GCG>GTG	p.A81V	MTERFD3_uc001tmf.1_Missense_Mutation_p.A81V|MTERFD3_uc001tmg.1_Missense_Mutation_p.A81V|MTERFD3_uc001tmh.1_Missense_Mutation_p.A81V	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	transcription termination factor-like protein	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding				0																		---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109971374	109971374	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109971374G>A	uc001top.2	+						UBE3B_uc001toq.2_Intron|UBE3B_uc001tos.2_Intron|UBE3B_uc001tot.2_Intron|UBE3B_uc010sxp.1_Intron	NM_130466	NP_569733			ubiquitin protein ligase E3B						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4																		---	---	---	---
C12orf34	84915	broad.mit.edu	37	12	110206229	110206229	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110206229G>A	uc001tpd.1	+	3	1054	c.495G>A	c.(493-495)GCG>GCA	p.A165A	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Silent_p.A165A	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	165	Pro-rich.									ovary(1)	1																		---	---	---	---
C12orf34	84915	broad.mit.edu	37	12	110206380	110206380	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110206380G>A	uc001tpd.1	+	3	1205	c.646G>A	c.(646-648)GCA>ACA	p.A216T	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.A216T	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	216	Pro-rich.									ovary(1)	1																		---	---	---	---
TCHP	84260	broad.mit.edu	37	12	110340853	110340853	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110340853T>C	uc001tpn.2	+	2	175	c.22T>C	c.(22-24)TCC>CCC	p.S8P	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.S8P	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	8					apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1																		---	---	---	---
GIT2	9815	broad.mit.edu	37	12	110421431	110421431	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110421431T>G	uc001tps.2	-	5	639	c.474A>C	c.(472-474)CAA>CAC	p.Q158H	GIT2_uc001tpq.2_Missense_Mutation_p.Q158H|GIT2_uc001tpv.2_Missense_Mutation_p.Q158H|GIT2_uc001tpu.2_Missense_Mutation_p.Q158H|GIT2_uc001tpt.2_Missense_Mutation_p.Q158H|GIT2_uc010sxu.1_Missense_Mutation_p.Q96H|GIT2_uc001tpw.2_Missense_Mutation_p.Q158H|GIT2_uc010sxv.1_Missense_Mutation_p.Q158H	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	158	ANK 1.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110783139	110783139	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110783139T>C	uc001tqk.3	+	18	3256	c.2693T>C	c.(2692-2694)ATG>ACG	p.M898T	ATP2A2_uc001tql.3_Missense_Mutation_p.M898T|ATP2A2_uc010sxy.1_Missense_Mutation_p.M871T|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	898	Helical; Name=8; (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4																		---	---	---	---
MYL2	4633	broad.mit.edu	37	12	111358330	111358330	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111358330C>T	uc001try.3	-						MYL2_uc001trx.3_5'Flank	NM_000432	NP_000423			slow cardiac myosin regulatory light chain 2						cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1																		---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112185167	112185167	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112185167C>T	uc001tsq.2	+	16	2663	c.2463C>T	c.(2461-2463)AAC>AAT	p.N821N	ACAD10_uc001tsp.2_Silent_p.N821N|ACAD10_uc009zvx.2_Silent_p.N852N|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	821							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2																		---	---	---	---
ERP29	10961	broad.mit.edu	37	12	112460088	112460088	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112460088G>A	uc001ttk.1	+	3	536	c.418G>A	c.(418-420)GCC>ACC	p.A140T	ERP29_uc001ttl.1_3'UTR	NM_006817	NP_006808	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29 isoform 1	140					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity				0																		---	---	---	---
LHX5	64211	broad.mit.edu	37	12	113906172	113906172	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113906172G>A	uc001tvj.1	-	3	1009	c.435C>T	c.(433-435)CTC>CTT	p.L145L		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116408482	116408482	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116408482T>C	uc001tvw.2	-	27	6039	c.5984A>G	c.(5983-5985)CAC>CGC	p.H1995R		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1995					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)														---	---	---	---
TESC	54997	broad.mit.edu	37	12	117494684	117494684	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117494684T>C	uc001twh.2	-	3	300	c.295A>G	c.(295-297)AAC>GAC	p.N99D	TESC_uc001twi.2_RNA	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	tescalcin	46					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)														---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117672429	117672429	+	Missense_Mutation	SNP	G	A	A	rs56266548		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117672429G>A	uc001twm.1	-	21	3862	c.3176C>T	c.(3175-3177)GCG>GTG	p.A1059V		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1059	FAD-binding FR-type.				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)													---	---	---	---
WSB2	55884	broad.mit.edu	37	12	118474213	118474213	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118474213C>T	uc001twr.2	-	6	861	c.763G>A	c.(763-765)GTC>ATC	p.V255I	WSB2_uc010sza.1_Missense_Mutation_p.V30I|WSB2_uc010szb.1_Missense_Mutation_p.V45I|WSB2_uc009zws.1_Missense_Mutation_p.V255I	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	255	WD 4.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121882242	121882242	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121882242C>A	uc001uat.2	-						KDM2B_uc001uaq.2_Intron|KDM2B_uc010szy.1_Intron|KDM2B_uc001uar.2_Intron|KDM2B_uc001uas.2_Intron|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_5'Flank|KDM2B_uc010szx.1_5'Flank|KDM2B_uc001uap.2_5'Flank	NM_032590	NP_115979			F-box and leucine-rich repeat protein 10 isoform						embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2																OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121951203	121951203	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121951203C>T	uc001uat.2	-	10	1154	c.1050G>A	c.(1048-1050)GTG>GTA	p.V350V	KDM2B_uc001uas.2_Silent_p.V319V|KDM2B_uc001uau.2_Silent_p.V233V|KDM2B_uc001uav.3_Silent_p.V260V	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	350					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123055441	123055441	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123055441T>C	uc001ucv.2	+	23	2042	c.1879T>C	c.(1879-1881)TTG>CTG	p.L627L	KNTC1_uc010taf.1_Silent_p.L590L	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	627					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)														---	---	---	---
GPR81	27198	broad.mit.edu	37	12	123214828	123214828	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123214828G>A	uc001ucz.2	-	1	302	c.59C>T	c.(58-60)CCG>CTG	p.P20L	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	20	Extracellular (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)														---	---	---	---
EIF2B1	1967	broad.mit.edu	37	12	124106442	124106442	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124106442G>A	uc001ufm.2	-	9	922	c.779C>T	c.(778-780)GCG>GTG	p.A260V	EIF2B1_uc001ufn.2_Missense_Mutation_p.A258V	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	260					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)														---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124209219	124209219	+	Missense_Mutation	SNP	G	A	A	rs146676679		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124209219G>A	uc001ufr.2	+	4	561	c.313G>A	c.(313-315)GAG>AAG	p.E105K	ATP6V0A2_uc001ufq.1_Missense_Mutation_p.E105K	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	105	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)														---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124274680	124274680	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124274680G>A	uc001uft.3	+						DNAH10_uc010tav.1_Intron|DNAH10_uc010taw.1_Intron	NM_207437	NP_997320			dynein, axonemal, heavy chain 10						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---
CCDC92	80212	broad.mit.edu	37	12	124421711	124421711	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124421711T>G	uc001ufw.1	-	5	1037	c.890A>C	c.(889-891)CAC>CCC	p.H297P	CCDC92_uc001ufv.1_Missense_Mutation_p.H280P|CCDC92_uc001ufx.1_Missense_Mutation_p.H297P|CCDC92_uc001ufy.1_Missense_Mutation_p.H280P	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	297											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)														---	---	---	---
SCARB1	949	broad.mit.edu	37	12	125294823	125294823	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125294823G>A	uc001ugo.3	-	6	992	c.739C>T	c.(739-741)CAT>TAT	p.H247Y	SCARB1_uc001ugn.3_Missense_Mutation_p.H247Y|SCARB1_uc001ugm.3_Missense_Mutation_p.H247Y|SCARB1_uc010tbd.1_Missense_Mutation_p.H247Y|SCARB1_uc010tbe.1_Missense_Mutation_p.H206Y|SCARB1_uc001ugp.3_Missense_Mutation_p.H247Y	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	247	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)													---	---	---	---
FZD10	11211	broad.mit.edu	37	12	130648515	130648515	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130648515G>A	uc001uii.2	+	1	1484	c.1028G>A	c.(1027-1029)GGC>GAC	p.G343D	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	343	Cytoplasmic (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)														---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131451073	131451073	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:131451073C>T	uc001uit.3	+	3	728	c.169C>T	c.(169-171)CTT>TTT	p.L57F	GPR133_uc010tbm.1_Missense_Mutation_p.L57F	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	57	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)														---	---	---	---
ULK1	8408	broad.mit.edu	37	12	132393458	132393458	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132393458C>T	uc001uje.2	+	7	774	c.506C>T	c.(505-507)GCG>GTG	p.A169V		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	169	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)														---	---	---	---
ZNF10	7556	broad.mit.edu	37	12	133733098	133733098	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133733098G>A	uc009zzb.2	+	5	1713	c.1266G>A	c.(1264-1266)GTG>GTA	p.V422V	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.V422V	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	422	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)														---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25457398	25457398	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25457398C>T	uc001upt.3	-	17	4187	c.3934G>A	c.(3934-3936)GGT>AGT	p.G1312S	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1312					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)														---	---	---	---
LNX2	222484	broad.mit.edu	37	13	28136599	28136599	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28136599C>A	uc001url.3	-	5	1484	c.1175G>T	c.(1174-1176)GGG>GTG	p.G392V	LNX2_uc001urm.1_Missense_Mutation_p.G392V	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	392	PDZ 2.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)														---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28636133	28636133	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28636133G>A	uc001urw.2	-	3	321	c.239C>T	c.(238-240)GCT>GTT	p.A80V	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.A80V	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	80	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.599_560>LTGSSDNEYFYVDFREYEY(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29008007	29008007	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29008007A>G	uc001usb.3	-	6	1047	c.762T>C	c.(760-762)GCT>GCC	p.A254A	FLT1_uc010aar.1_Silent_p.A254A|FLT1_uc001usc.3_Silent_p.A254A|FLT1_uc010tdp.1_Silent_p.A254A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	254	Extracellular (Potential).|Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---
SLC46A3	283537	broad.mit.edu	37	13	29287374	29287374	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29287374C>T	uc001usi.2	-	2	1473	c.503G>A	c.(502-504)CGA>CAA	p.R168Q	SLC46A3_uc001usg.2_Missense_Mutation_p.R93Q|SLC46A3_uc001usj.2_Missense_Mutation_p.R168Q|SLC46A3_uc001ush.2_Missense_Mutation_p.R168Q|SLC46A3_uc001usk.2_Missense_Mutation_p.R93Q	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	168	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32868578	32868578	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32868578A>G	uc001utx.2	+	60	9150	c.8654A>G	c.(8653-8655)GAC>GGC	p.D2885G	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.D416G|FRY_uc010tdx.1_Missense_Mutation_p.D255G	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32972903	32972903	+	Missense_Mutation	SNP	T	G	G	rs80359259		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32972903T>G	uc001uub.1	+	27	10480	c.10253T>G	c.(10252-10254)ATC>AGC	p.I3418S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3418					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)				D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			---	---	---	---
SPG20	23111	broad.mit.edu	37	13	36900787	36900787	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36900787A>G	uc001uvn.2	-	6	1483	c.1213T>C	c.(1213-1215)TGT>CGT	p.C405R	SPG20_uc010ten.1_Missense_Mutation_p.C395R|SPG20_uc001uvm.2_Missense_Mutation_p.C405R|SPG20_uc001uvo.2_Missense_Mutation_p.C405R|SPG20_uc001uvq.2_Missense_Mutation_p.C405R|SPG20_uc001uvp.2_Missense_Mutation_p.C405R	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	405					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)														---	---	---	---
SMAD9	4093	broad.mit.edu	37	13	37439797	37439797	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37439797G>A	uc001uvw.2	-	5	1223	c.880C>T	c.(880-882)CGA>TGA	p.R294*	SMAD9_uc001uvx.2_Nonsense_Mutation_p.R257*|SMAD9_uc010tep.1_Nonsense_Mutation_p.R87*	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	294	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)														---	---	---	---
C13orf23	80209	broad.mit.edu	37	13	39603448	39603448	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39603448T>G	uc001uwy.2	-	4	1118	c.245A>C	c.(244-246)GAC>GCC	p.D82A	C13orf23_uc001uwz.2_Missense_Mutation_p.D60A	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	82										ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)														---	---	---	---
SLC25A15	10166	broad.mit.edu	37	13	41379273	41379273	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41379273G>A	uc001uxn.2	+	4	656	c.334G>A	c.(334-336)GCC>ACC	p.A112T	SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Missense_Mutation_p.A18T|SUGT1L1_uc001uxo.1_RNA	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	mitochondrial ornithine transporter 1	112	Helical; Name=3; (Potential).|Solcar 2.				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)													---	---	---	---
MTRF1	9617	broad.mit.edu	37	13	41827154	41827154	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41827154G>T	uc001uxx.2	-	6	990	c.520C>A	c.(520-522)CTT>ATT	p.L174I	MTRF1_uc001uxy.2_Missense_Mutation_p.L174I|MTRF1_uc001uxz.2_Missense_Mutation_p.L10I|MTRF1_uc010tff.1_Missense_Mutation_p.L187I|MTRF1_uc001uyc.1_Missense_Mutation_p.L174I	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	174					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)														---	---	---	---
NAA16	79612	broad.mit.edu	37	13	41943362	41943362	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41943362A>T	uc001uyf.2	+	15	2214	c.1890A>T	c.(1888-1890)GAA>GAT	p.E630D	NAA16_uc010tfg.1_RNA	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	630					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1																		---	---	---	---
SLC25A30	253512	broad.mit.edu	37	13	45980026	45980026	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45980026C>T	uc001vag.2	-	4	436	c.299G>A	c.(298-300)CGC>CAC	p.R100H	SLC25A30_uc010tfs.1_Missense_Mutation_p.R25H|SLC25A30_uc001vah.2_Missense_Mutation_p.R25H|SLC25A30_uc010tft.1_Missense_Mutation_p.R49H|SLC25A30_uc001vaf.2_5'Flank	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	100					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)														---	---	---	---
RB1	5925	broad.mit.edu	37	13	48919235	48919235	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48919235T>G	uc001vcb.2	+	4	566	c.400T>G	c.(400-402)TTA>GTA	p.L134V	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	134					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)|p.L134fs*1(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	---	---	---
SERPINE3	647174	broad.mit.edu	37	13	51936035	51936035	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:51936035A>G	uc001vfh.2	+	7	1237	c.1177A>G	c.(1177-1179)ACA>GCA	p.T393A	SERPINE3_uc010tgp.1_Intron|INTS6_uc001vfi.2_3'UTR|INTS6_uc001vfj.2_3'UTR|INTS6_uc001vfk.2_3'UTR|INTS6_uc001vfl.2_3'UTR	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	nexin-related serine protease inhibitor	393					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2																		---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52602510	52602510	+	5'UTR	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52602510C>T	uc001vgb.2	+	2					UTP14C_uc001vga.2_Silent_p.G421G|UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677			UTP14, U3 small nucleolar ribonucleoprotein,						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)														---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53420927	53420927	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53420927A>G	uc001vhi.2	-	1	1848	c.1645T>C	c.(1645-1647)TCC>CCC	p.S549P	PCDH8_uc001vhj.2_Missense_Mutation_p.S549P	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	549	Extracellular (Potential).|Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208186	58208186	+	Silent	SNP	C	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208186C>G	uc001vhq.1	+	1	2398	c.1506C>G	c.(1504-1506)GGC>GGG	p.G502G	PCDH17_uc010aec.1_Silent_p.G502G	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	502	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208609	58208609	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208609C>T	uc001vhq.1	+	1	2821	c.1929C>T	c.(1927-1929)GGC>GGT	p.G643G	PCDH17_uc010aec.1_Silent_p.G643G	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	643	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72146986	72146986	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:72146986T>C	uc010thn.1	-	5	1708	c.1285A>G	c.(1285-1287)ACA>GCA	p.T429A	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	481					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)														---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75901914	75901914	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75901914G>A	uc001vjl.1	-	9	2127	c.1780C>T	c.(1780-1782)CGG>TGG	p.R594W	TBC1D4_uc010aer.2_Missense_Mutation_p.R594W|TBC1D4_uc010aes.2_Missense_Mutation_p.R594W	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	594						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---
UCHL3	7347	broad.mit.edu	37	13	76179898	76179898	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:76179898C>T	uc001vjq.2	+	9	673	c.643C>T	c.(643-645)CGC>TGC	p.R215C	UCHL3_uc001vjr.2_Missense_Mutation_p.R179C	NM_006002	NP_005993	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3	215					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity				0				GBM - Glioblastoma multiforme(99;0.0125)														---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98641389	98641389	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98641389A>G	uc001vnf.1	+	4	503	c.438A>G	c.(436-438)GGA>GGG	p.G146G	IPO5_uc001vne.2_Silent_p.G164G|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Silent_p.G86G	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	146					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	107822998	107822998	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:107822998T>C	uc001vql.2	-	3	1740	c.1224A>G	c.(1222-1224)TCA>TCG	p.S408S		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	408						integral to membrane	binding			skin(1)	1																		---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111953116	111953116	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111953116C>T	uc010tjo.1	+	18	1962	c.1910C>T	c.(1909-1911)CCA>CTA	p.P637L	ARHGEF7_uc001vrv.3_Missense_Mutation_p.P562L|ARHGEF7_uc001vrw.3_Missense_Mutation_p.P562L|ARHGEF7_uc001vrx.3_Missense_Mutation_p.P562L	NM_003899	NP_003890	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform a	Error:Variant_position_missing_in_Q14155_after_alignment					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)															---	---	---	---
TUBGCP3	10426	broad.mit.edu	37	13	113170746	113170746	+	Intron	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113170746G>T	uc001vse.1	-						TUBGCP3_uc010tjq.1_Intron|TUBGCP3_uc001vsf.2_Intron	NM_006322	NP_006313			tubulin, gamma complex associated protein 3						G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)																	---	---	---	---
DCUN1D2	55208	broad.mit.edu	37	13	114117175	114117175	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114117175T>C	uc001vtr.1	-						DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Intron	NM_001014283	NP_001014305			DCN1, defective in cullin neddylation 1, domain												0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)															---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553815	19553815	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:19553815C>A	uc001vuz.1	+	1	451	c.399C>A	c.(397-399)TAC>TAA	p.Y133*	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	133										ovary(1)	1																		---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248598	20248598	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20248598A>G	uc010tku.1	+	1	117	c.117A>G	c.(115-117)CTA>CTG	p.L39L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20443718	20443718	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20443718A>C	uc010tkx.1	+	1	41	c.41A>C	c.(40-42)CAG>CCG	p.Q14P		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OSGEP	55644	broad.mit.edu	37	14	20915437	20915437	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20915437A>G	uc001vxf.2	-	11	1326	c.970T>C	c.(970-972)TAT>CAT	p.Y324H		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	324					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				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;0.0231)|READ - Rectum adenocarcinoma(17;0.196)														---	---	---	---
RNASE4	6038	broad.mit.edu	37	14	21167799	21167799	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21167799T>C	uc001vxy.3	+	2	832	c.269T>C	c.(268-270)ATC>ACC	p.I90T	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.I90T	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	90					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)														---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21862288	21862288	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21862288C>T	uc001was.1	-	32	4923	c.4829G>A	c.(4828-4830)CGT>CAT	p.R1610H	CHD8_uc001war.1_Missense_Mutation_p.R1506H|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1889					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)														---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21868764	21868764	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21868764G>A	uc001was.1	-	23	3635	c.3541C>T	c.(3541-3543)CGA>TGA	p.R1181*	CHD8_uc001war.1_Nonsense_Mutation_p.R1077*|CHD8_uc001wav.1_Nonsense_Mutation_p.R623*	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1460					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)														---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21896123	21896123	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21896123G>A	uc001was.1	-	4	763	c.669C>T	c.(667-669)CGC>CGT	p.R223R	CHD8_uc001war.1_Silent_p.R119R	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	502					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22675954	22675954	+	Intron	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22675954A>C	uc001wbw.2	+						uc010aiv.1_Intron|uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc001wdj.2_Intron|uc001wdk.2_Missense_Mutation_p.K89T					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23885266	23885266	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23885266G>A	uc001wjx.2	-	34	5006	c.4900C>T	c.(4900-4902)CGC>TGC	p.R1634C		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1634	Potential.		R -> C (in CMD1S).		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)														---	---	---	---
JPH4	84502	broad.mit.edu	37	14	24040254	24040254	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24040254C>T	uc001wkq.2	-	6	2604	c.1686G>A	c.(1684-1686)ACG>ACA	p.T562T	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.2_5'Flank|JPH4_uc010tnr.1_Silent_p.T227T|JPH4_uc001wkr.2_Silent_p.T562T	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	562	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)														---	---	---	---
PCK2	5106	broad.mit.edu	37	14	24572402	24572402	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24572402G>A	uc001wlt.2	+	9	1538	c.1406G>A	c.(1405-1407)CGT>CAT	p.R469H	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R481H|PCK2_uc010tnw.1_Missense_Mutation_p.R335H|PCK2_uc010tnx.1_Missense_Mutation_p.R335H|PCK2_uc001wlu.3_Intron	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	469					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)														---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24617593	24617593	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24617593C>A	uc001wmn.1	+	3	715	c.466C>A	c.(466-468)CTT>ATT	p.L156I	PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	156	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)														---	---	---	---
RIPK3	11035	broad.mit.edu	37	14	24806443	24806443	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24806443T>C	uc001wpb.2	-	8	1334	c.1124A>G	c.(1123-1125)CAA>CGA	p.Q375R	ADCY4_uc001wov.2_5'Flank|ADCY4_uc001wow.2_5'Flank|ADCY4_uc010toh.1_5'Flank|ADCY4_uc001wox.2_5'Flank|ADCY4_uc001woy.2_5'Flank|ADCY4_uc001woz.3_5'Flank|RIPK3_uc001wpa.2_Missense_Mutation_p.Q175R|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_Missense_Mutation_p.Q154R	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	375					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
COCH	1690	broad.mit.edu	37	14	31348147	31348147	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31348147A>G	uc001wqr.2	+	5	450	c.370A>G	c.(370-372)ACT>GCT	p.T124A	COCH_uc001wqp.2_Missense_Mutation_p.T124A|COCH_uc001wqq.3_Missense_Mutation_p.T124A|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	124					sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)														---	---	---	---
NIN	51199	broad.mit.edu	37	14	51225270	51225270	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51225270A>G	uc001wym.2	-	18	2669	c.2478T>C	c.(2476-2478)ACT>ACC	p.T826T	NIN_uc001wyi.2_Silent_p.T826T|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Silent_p.T832T|NIN_uc001wyo.2_Silent_p.T826T	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	826	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
WDHD1	11169	broad.mit.edu	37	14	55411081	55411081	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55411081C>T	uc001xbm.1	-	25	3236	c.3158G>A	c.(3157-3159)CGA>CAA	p.R1053Q	WDHD1_uc010aom.1_Missense_Mutation_p.R570Q|WDHD1_uc001xbn.1_Missense_Mutation_p.R930Q	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1053	HMG box.					cytoplasm|nucleoplasm	DNA binding			skin(1)	1																		---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510977	55510977	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55510977C>T	uc001xbo.2	+	3	1783	c.1218C>T	c.(1216-1218)ATC>ATT	p.I406I	SOCS4_uc001xbp.2_Silent_p.I406I	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	406	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2																		---	---	---	---
FBXO34	55030	broad.mit.edu	37	14	55818441	55818441	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55818441C>T	uc001xbu.2	+	2	1578	c.1333C>T	c.(1333-1335)CGA>TGA	p.R445*	FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Nonsense_Mutation_p.R445*	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	445										ovary(2)|lung(2)|skin(1)	5																		---	---	---	---
KIAA0831	22863	broad.mit.edu	37	14	55836623	55836623	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55836623C>T	uc001xbx.1	-	10	1229	c.1193G>A	c.(1192-1194)CGA>CAA	p.R398Q	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.R285Q	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	398					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0																		---	---	---	---
C14orf101	54916	broad.mit.edu	37	14	57052563	57052563	+	Missense_Mutation	SNP	C	T	T	rs144727961	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57052563C>T	uc001xcm.2	+	3	399	c.277C>T	c.(277-279)CGC>TGC	p.R93C	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.R93C|C14orf101_uc010aot.1_Missense_Mutation_p.R93C|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	93						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)														---	---	---	---
EXOC5	10640	broad.mit.edu	37	14	57714400	57714400	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57714400G>A	uc001xct.2	-	2	309	c.58C>T	c.(58-60)CGT>TGT	p.R20C	EXOC5_uc010trg.1_Translation_Start_Site|EXOC5_uc010trh.1_Missense_Mutation_p.R20C	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	20					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3																		---	---	---	---
C14orf50	145376	broad.mit.edu	37	14	65054921	65054921	+	Silent	SNP	C	T	T	rs142941569	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65054921C>T	uc001xhl.1	+	11	1086	c.990C>T	c.(988-990)AAC>AAT	p.N330N	C14orf50_uc001xhm.1_Silent_p.N60N	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	330										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)														---	---	---	---
PLEKHG3	26030	broad.mit.edu	37	14	65208796	65208796	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65208796T>C	uc001xho.1	+	16	2830	c.2561T>C	c.(2560-2562)CTG>CCG	p.L854P	PLEKHG3_uc001xhn.1_Missense_Mutation_p.L798P|PLEKHG3_uc001xhp.2_Missense_Mutation_p.L975P|PLEKHG3_uc010aqh.1_Missense_Mutation_p.L396P|PLEKHG3_uc001xhq.1_Missense_Mutation_p.L359P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	854					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)														---	---	---	---
FNTB	2342	broad.mit.edu	37	14	65520041	65520041	+	Silent	SNP	G	A	A	rs149471226		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65520041G>A	uc001xia.2	+	10	1206	c.1041G>A	c.(1039-1041)GCG>GCA	p.A347A	FNTB_uc010tsl.1_Silent_p.A381A|FNTB_uc010tsm.1_Silent_p.A301A|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.A103A|FNTB_uc010tso.1_Silent_p.A262A	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	347	PFTB 5.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)														---	---	---	---
RDH11	51109	broad.mit.edu	37	14	68151878	68151878	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68151878T>C	uc001xjv.3	-	6	798	c.708A>G	c.(706-708)CAA>CAG	p.Q236Q	RDH11_uc001xjw.3_Silent_p.Q223Q|RDH11_uc001xjx.3_Silent_p.Q166Q	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	236	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)													---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71200020	71200020	+	Missense_Mutation	SNP	C	T	T	rs147124893		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71200020C>T	uc001xmm.2	-	11	2066	c.2066G>A	c.(2065-2067)CGC>CAC	p.R689H	MAP3K9_uc010ttk.1_Missense_Mutation_p.R417H|MAP3K9_uc001xmk.2_Missense_Mutation_p.R422H|MAP3K9_uc001xml.2_Missense_Mutation_p.R703H	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	689					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)														---	---	---	---
DCAF4	26094	broad.mit.edu	37	14	73406616	73406616	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73406616G>A	uc001xng.2	+						DCAF4_uc001xnj.2_Intron|DCAF4_uc010ttr.1_Intron|DCAF4_uc001xnh.2_Intron|DCAF4_uc010tts.1_Intron|DCAF4_uc010ttt.1_Intron|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Intron	NM_015604	NP_056419			DDB1 and CUL4 associated factor 4 isoform 1							CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73554751	73554751	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73554751G>A	uc001xno.2	+	6	633	c.425G>A	c.(424-426)CGT>CAT	p.R142H	RBM25_uc001xnn.3_Missense_Mutation_p.R142H|RBM25_uc010ttu.1_Missense_Mutation_p.R142H|RBM25_uc001xnp.2_Translation_Start_Site	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	142	RRM.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)														---	---	---	---
C14orf45	80127	broad.mit.edu	37	14	74514756	74514756	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74514756T>C	uc010tup.1	+	7	894	c.771T>C	c.(769-771)CAT>CAC	p.H257H	C14orf45_uc001xpm.1_RNA	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	257											0				BRCA - Breast invasive adenocarcinoma(234;0.00351)														---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74995349	74995349	+	Silent	SNP	G	A	A	rs144915925		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74995349G>A	uc001xqa.2	-	12	2592	c.2205C>T	c.(2203-2205)TCC>TCT	p.S735S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	735					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.S735S(1)		liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75265268	75265268	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75265268C>T	uc001xqj.3	+	5	3392	c.3268C>T	c.(3268-3270)CGG>TGG	p.R1090W	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	895	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)														---	---	---	---
TMED10	10972	broad.mit.edu	37	14	75643173	75643173	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75643173G>A	uc001xrm.1	-	1	177	c.110C>T	c.(109-111)CCC>CTC	p.P37L	TMED10_uc010ash.1_RNA	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	37	Lumenal (Potential).				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)														---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	80328296	80328296	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:80328296T>C	uc001xun.2	+	17	3666	c.3175T>C	c.(3175-3177)TAT>CAT	p.Y1059H	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.Y635H|NRXN3_uc010asw.2_Missense_Mutation_p.Y457H|NRXN3_uc001xur.3_Missense_Mutation_p.Y430H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1641	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)														---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81610228	81610228	+	Missense_Mutation	SNP	G	A	A	rs139352934	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81610228G>A	uc001xvd.1	+	10	1982	c.1826G>A	c.(1825-1827)CGA>CAA	p.R609Q		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	609	Cytoplasmic (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088134	86088134	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86088134G>A	uc001xvr.2	+	2	1043	c.276G>A	c.(274-276)ACG>ACA	p.T92T	FLRT2_uc010atd.2_Silent_p.T92T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	92	Extracellular (Potential).|LRR 2.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88652183	88652183	+	Missense_Mutation	SNP	G	A	A	rs61738734	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88652183G>A	uc001xwo.2	-	7	1770	c.1313C>T	c.(1312-1314)GCG>GTG	p.A438V	KCNK10_uc001xwm.2_Missense_Mutation_p.A443V|KCNK10_uc001xwn.2_Missense_Mutation_p.A443V	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	438	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5																		---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88945665	88945665	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88945665C>A	uc001xwv.3	-	13	2441	c.2110G>T	c.(2110-2112)GCC>TCC	p.A704S	PTPN21_uc010twc.1_Missense_Mutation_p.A500S	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	704						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4																		---	---	---	---
TDP1	55775	broad.mit.edu	37	14	90429630	90429630	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90429630A>G	uc001xxy.2	+	3	471	c.172A>G	c.(172-174)AGG>GGG	p.R58G	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.R58G|TDP1_uc010atn.2_Missense_Mutation_p.R58G|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.R58G|TDP1_uc001xyc.1_Missense_Mutation_p.R58G	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	58					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)									Repair_of_DNA-protein_crosslinks					---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95583999	95583999	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95583999C>T	uc001ydw.2	-	10	1651	c.1469G>A	c.(1468-1470)CGC>CAC	p.R490H	DICER1_uc001ydv.2_Missense_Mutation_p.R480H|DICER1_uc001ydx.2_Missense_Mutation_p.R490H	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	490	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				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_				---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99723922	99723922	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:99723922C>T	uc001yga.2	-	2	580	c.313G>A	c.(313-315)GAG>AAG	p.E105K	BCL11B_uc001ygb.2_Missense_Mutation_p.E105K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	105						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)				T	TLX3	T-ALL								---	---	---	---
MIR379	494328	broad.mit.edu	37	14	101488429	101488429	+	RNA	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101488429C>T	hsa-mir-379|MI0000787	+			c.27C>T			uc010awa.1_RNA|MIR411_hsa-mir-411|MI0003675_5'Flank|uc001yjx.1_5'Flank|MIR299_hsa-mir-299|MI0000744_5'Flank|uc010awb.1_5'Flank|MIR380_hsa-mir-380|MI0000788_5'Flank																	0																		---	---	---	---
DIO3	1735	broad.mit.edu	37	14	102028223	102028223	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102028223C>T	uc010txq.1	+	1	536	c.312C>T	c.(310-312)CAC>CAT	p.H104H	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	104	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)																---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102910059	102910059	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102910059G>A	uc001ylw.1	+	12	2976	c.2828G>A	c.(2827-2829)CGG>CAG	p.R943Q	TECPR2_uc010awl.2_Missense_Mutation_p.R943Q|TECPR2_uc010txx.1_Missense_Mutation_p.R106Q	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	943							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106405782	106405782	+	RNA	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106405782C>T	uc010tyt.1	-	2358		c.42282G>A								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106452853	106452853	+	RNA	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106452853G>A	uc010tyt.1	-	1975		c.37903C>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106586346	106586346	+	RNA	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106586346T>C	uc010tyt.1	-	1286		c.27884A>G			uc001ysv.2_RNA					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	20643883	20643883	+	Missense_Mutation	SNP	G	A	A	rs139661202	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:20643883G>A	uc001ytg.2	-	23	3596	c.2887C>T	c.(2887-2889)CGG>TGG	p.R963W	uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.R963W					RecName: Full=Putative HERC2-like protein 3;																														---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23014510	23014510	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23014510G>C	uc001yux.2	-	6	828	c.215C>G	c.(214-216)GCC>GGC	p.A72G	NIPA2_uc001yuy.2_Missense_Mutation_p.A72G|NIPA2_uc001yuz.2_Missense_Mutation_p.A72G|NIPA2_uc001yva.2_Missense_Mutation_p.A53G|NIPA2_uc001yvb.2_Missense_Mutation_p.A72G|NIPA2_uc010ayb.2_Missense_Mutation_p.A53G	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	72	Helical; (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)														---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23890346	23890346	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23890346C>T	uc001ywj.3	-	1	830	c.735G>A	c.(733-735)TCG>TCA	p.S245S		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28408251	28408251	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28408251C>T	uc001zbj.2	-	69	10841	c.10735G>A	c.(10735-10737)GCC>ACC	p.A3579T		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3579					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30011319	30011319	+	Silent	SNP	G	A	A	rs45562135		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:30011319G>A	uc001zcr.2	-	21	3502	c.3027C>T	c.(3025-3027)CCC>CCT	p.P1009P	TJP1_uc010azl.2_Silent_p.P997P|TJP1_uc001zcq.2_Silent_p.P933P|TJP1_uc001zcs.2_Silent_p.P929P	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1009					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33831643	33831643	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33831643G>A	uc001zhi.2	+	6	596	c.526G>A	c.(526-528)GTG>ATG	p.V176M	RYR3_uc010bar.2_Missense_Mutation_p.V176M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	176	MIR 2.|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)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33988594	33988594	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33988594C>T	uc001zhi.2	+	39	6106	c.6036C>T	c.(6034-6036)AGC>AGT	p.S2012S	RYR3_uc010bar.2_Silent_p.S2012S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2012	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)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34145782	34145782	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34145782C>T	uc001zhi.2	+	96	13768	c.13698C>T	c.(13696-13698)TAC>TAT	p.Y4566Y	RYR3_uc010bar.2_Silent_p.Y4561Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4566					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)														---	---	---	---
C15orf29	79768	broad.mit.edu	37	15	34445071	34445071	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34445071T>C	uc001zhp.2	-	4	518	c.358A>G	c.(358-360)ACA>GCA	p.T120A	C15orf29_uc010ubz.1_Missense_Mutation_p.T24A|C15orf29_uc010uca.1_Missense_Mutation_p.T120A	NM_024713	NP_078989	Q9H079	CO029_HUMAN	hypothetical protein LOC79768	120						nucleolus				ovary(1)	1		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)														---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34531353	34531353	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34531353C>T	uc001zhw.2	-	19	2609	c.2445G>A	c.(2443-2445)AAG>AAA	p.K815K	SLC12A6_uc001zhv.2_Silent_p.K764K|SLC12A6_uc001zhx.2_Silent_p.K800K|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Silent_p.K756K|SLC12A6_uc001zib.2_Silent_p.K806K|SLC12A6_uc001zic.2_Silent_p.K815K|SLC12A6_uc010bau.2_Silent_p.K815K|SLC12A6_uc001zid.2_Silent_p.K756K|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Silent_p.K627K	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	815					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)													---	---	---	---
MEIS2	4212	broad.mit.edu	37	15	37187361	37187361	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:37187361G>A	uc001zjr.2	-	11	2175	c.1138C>T	c.(1138-1140)CGG>TGG	p.R380W	MEIS2_uc001zjl.2_Missense_Mutation_p.R367W|MEIS2_uc010ucj.1_Missense_Mutation_p.R360W|MEIS2_uc001zjm.2_Missense_Mutation_p.R285W|MEIS2_uc001zjn.2_Missense_Mutation_p.R234W|MEIS2_uc001zjo.2_Missense_Mutation_p.R380W|MEIS2_uc001zjp.2_Missense_Mutation_p.R373W|MEIS2_uc001zjs.2_Missense_Mutation_p.R373W|MEIS2_uc001zju.2_Missense_Mutation_p.R360W|MEIS2_uc001zjt.2_Missense_Mutation_p.R373W|MEIS2_uc001zjj.2_Missense_Mutation_p.R76W|MEIS2_uc001zjk.2_Missense_Mutation_p.R69W	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	380					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)														---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39875834	39875834	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39875834T>C	uc001zkh.2	+	4	823	c.644T>C	c.(643-645)GTG>GCG	p.V215A		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	215	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
FSIP1	161835	broad.mit.edu	37	15	40018788	40018788	+	Splice_Site	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40018788A>G	uc001zki.2	-	9	1268	c.1050_splice	c.e9+1	p.Q350_splice		NM_152597	NP_689810			fibrous sheath interacting protein 1											ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)														---	---	---	---
C15orf23	90417	broad.mit.edu	37	15	40683717	40683717	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40683717T>G	uc001zll.2	+	7	824	c.709T>G	c.(709-711)TCA>GCA	p.S237A	C15orf23_uc010ucp.1_Missense_Mutation_p.S237A|C15orf23_uc001zlo.2_Intron|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	237						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)														---	---	---	---
CHAC1	79094	broad.mit.edu	37	15	41247781	41247781	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41247781G>A	uc001znh.2	+	3	624	c.604G>A	c.(604-606)GCC>ACC	p.A202T	CHAC1_uc010uct.1_Missense_Mutation_p.A157T	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	202					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)														---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43093540	43093540	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43093540G>A	uc001zqo.2	-						TTBK2_uc010bcy.2_Intron|TTBK2_uc001zqp.2_Intron|TTBK2_uc010bcz.1_Intron	NM_173500	NP_775771			tau tubulin kinase 2						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)														---	---	---	---
EPB42	2038	broad.mit.edu	37	15	43502527	43502527	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43502527G>A	uc001zra.3	-						EPB42_uc001zqz.3_5'Flank|EPB42_uc010bde.2_Intron|EPB42_uc001zrb.3_Intron|EPB42_uc010udm.1_Intron	NM_001114134	NP_001107606			erythrocyte membrane protein band 4.2 isoform 2						erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)														---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44876193	44876193	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44876193A>G	uc001ztx.2	-	30	5716	c.5685T>C	c.(5683-5685)AGT>AGC	p.S1895S	SPG11_uc010bdw.2_Silent_p.S184S|SPG11_uc010ueh.1_Silent_p.S1895S|SPG11_uc010uei.1_Silent_p.S1895S|SPG11_uc001zty.1_Silent_p.S624S	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1895	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)														---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45386840	45386840	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45386840G>A	uc010bea.2	-	33	4648	c.4445C>T	c.(4444-4446)ACG>ATG	p.T1482M	DUOX2_uc001zun.2_Missense_Mutation_p.T1482M	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1482	Cytoplasmic (Potential).				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)														---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45444515	45444515	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45444515C>T	uc001zus.1	+	26	3571	c.3225C>T	c.(3223-3225)ATC>ATT	p.I1075I	DUOX1_uc001zut.1_Silent_p.I1075I|DUOX1_uc010bee.1_Silent_p.I455I|DUOX1_uc001zuu.2_Silent_p.I217I	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1075	Interaction with TXNDC11 (By similarity).|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)														---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48459562	48459562	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48459562G>A	uc001zwi.3	-	3	531	c.407C>T	c.(406-408)GCG>GTG	p.A136V	MYEF2_uc001zwj.3_Missense_Mutation_p.A136V|MYEF2_uc001zwl.2_Intron	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	136	RRM 1.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)														---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49304949	49304949	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49304949G>A	uc001zxe.1	-	12	1761	c.1627C>T	c.(1627-1629)CCC>TCC	p.P543S	SECISBP2L_uc001zxd.1_Missense_Mutation_p.P498S|SECISBP2L_uc010bep.1_Missense_Mutation_p.P305S	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	543										breast(1)|skin(1)	2																		---	---	---	---
GALK2	2585	broad.mit.edu	37	15	49493385	49493385	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49493385A>G	uc001zxj.1	+	2	178	c.80A>G	c.(79-81)AAC>AGC	p.N27S	GALK2_uc001zxi.1_Missense_Mutation_p.N16S|GALK2_uc010ufb.1_Missense_Mutation_p.N3S|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.N3S	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1	27					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)														---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50215592	50215592	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50215592G>A	uc001zxu.2	-	17	1884	c.1742C>T	c.(1741-1743)ACG>ATG	p.T581M	ATP8B4_uc010ber.2_Missense_Mutation_p.T454M|ATP8B4_uc010ufd.1_Missense_Mutation_p.T391M|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	581	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)														---	---	---	---
TMOD3	29766	broad.mit.edu	37	15	52194210	52194210	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52194210C>T	uc002abm.2	+	9	1220	c.1001C>T	c.(1000-1002)GCT>GTT	p.A334V	TMOD3_uc010bfc.1_RNA	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	334						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1				all cancers(107;0.00194)														---	---	---	---
BCL2L10	10017	broad.mit.edu	37	15	52402180	52402180	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52402180G>A	uc002abq.2	-							NM_020396	NP_065129			BCL2-like 10 (apoptosis facilitator)						activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding				0				all cancers(107;0.0148)														---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52662454	52662454	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52662454G>A	uc002aby.2	-	22	3222	c.2978C>T	c.(2977-2979)GCC>GTC	p.A993V	MYO5A_uc002abx.3_Missense_Mutation_p.A993V|MYO5A_uc010uge.1_Missense_Mutation_p.A862V	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	993	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)														---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081384	53081384	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53081384T>C	uc002aci.1	-	1	826	c.698A>G	c.(697-699)CAC>CGC	p.H233R		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	233					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)														---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53907708	53907708	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53907708C>G	uc002acj.2	-	15	2737	c.2695G>C	c.(2695-2697)GAT>CAT	p.D899H	WDR72_uc010bfi.1_Missense_Mutation_p.D899H	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	899										lung(1)|skin(1)	2				all cancers(107;0.0511)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307652	54307652	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54307652A>G	uc002ack.2	+	1	2552	c.2552A>G	c.(2551-2553)GAT>GGT	p.D851G		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	851					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)														---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56388135	56388135	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56388135G>A	uc010bfn.2	-	9	1791	c.1791C>T	c.(1789-1791)GAC>GAT	p.D597D	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.D411D	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	500					regulation of transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
ALDH1A2	8854	broad.mit.edu	37	15	58287284	58287284	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:58287284T>A	uc002aex.2	-	5	605	c.547A>T	c.(547-549)ATC>TTC	p.I183F	ALDH1A2_uc002aey.2_Missense_Mutation_p.I183F|ALDH1A2_uc010ugv.1_Missense_Mutation_p.I162F|ALDH1A2_uc010ugw.1_Missense_Mutation_p.I154F|ALDH1A2_uc002aew.2_Missense_Mutation_p.I87F	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	183					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)													---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62978963	62978963	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62978963C>T	uc002alb.3	+	9	1081	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	361	FERM.|Interaction with PIP5K1C (By similarity).				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																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63004122	63004122	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63004122G>A	uc002alb.3	+	19	2480	c.2480G>A	c.(2479-2481)CGC>CAC	p.R827H		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	827					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																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63990925	63990925	+	Splice_Site	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63990925A>G	uc002amp.2	-	26	5053	c.4905_splice	c.e26+1	p.E1635_splice	HERC1_uc010uil.1_Splice_Site_p.E619_splice	NM_003922	NP_003913			hect domain and RCC1-like domain 1						protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
TRIP4	9325	broad.mit.edu	37	15	64717782	64717782	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64717782C>T	uc002anm.2	+	11	1570	c.1527C>T	c.(1525-1527)GGC>GGT	p.G509G		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	509					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
CILP	8483	broad.mit.edu	37	15	65491212	65491212	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65491212G>A	uc002aon.2	-	9	1593	c.1412C>T	c.(1411-1413)ACG>ATG	p.T471M		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	471					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7																		---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65702545	65702545	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65702545C>A	uc002aou.1	-	3	744	c.534G>T	c.(532-534)AAG>AAT	p.K178N		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	178	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	66048497	66048497	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66048497G>A	uc002aph.2	-	3	670	c.292C>T	c.(292-294)CCT>TCT	p.P98S	DENND4A_uc002api.2_Missense_Mutation_p.P98S|DENND4A_uc002apj.3_Missense_Mutation_p.P98S|DENND4A_uc010ujj.1_Missense_Mutation_p.P98S	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	98	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
MAP2K1	5604	broad.mit.edu	37	15	66737006	66737006	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66737006C>A	uc010bhq.2	+	5	1004	c.529C>A	c.(529-531)CTG>ATG	p.L177M	MAP2K1_uc010ujp.1_Missense_Mutation_p.L155M	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	177	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0														Cardiofaciocutaneous_syndrome				---	---	---	---
FEM1B	10116	broad.mit.edu	37	15	68583129	68583129	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68583129A>T	uc002arg.2	+	2	2048	c.1433A>T	c.(1432-1434)GAT>GTT	p.D478V	FEM1B_uc002arh.2_Missense_Mutation_p.D398V	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	478					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0																		---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70345628	70345628	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70345628T>G	uc002asm.2	-	17	3040	c.1921A>C	c.(1921-1923)ACG>CCG	p.T641P	TLE3_uc002ask.2_Missense_Mutation_p.T568P|TLE3_uc002asl.2_Missense_Mutation_p.T641P|TLE3_uc010ukd.1_Missense_Mutation_p.T631P|TLE3_uc010bik.1_Missense_Mutation_p.T222P|TLE3_uc010bil.1_Missense_Mutation_p.T638P|TLE3_uc002asn.2_Missense_Mutation_p.T629P|TLE3_uc002asp.2_Missense_Mutation_p.T633P|TLE3_uc002aso.2_Missense_Mutation_p.T636P	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	641	WD 4.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2																		---	---	---	---
THSD4	79875	broad.mit.edu	37	15	72039263	72039263	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72039263C>T	uc002atb.1	+	12	2202	c.2123C>T	c.(2122-2124)GCC>GTC	p.A708V	THSD4_uc002ate.2_Missense_Mutation_p.A348V	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	708	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2																		---	---	---	---
BBS4	585	broad.mit.edu	37	15	73028236	73028236	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73028236G>A	uc002avb.2	+	14	1220	c.1177G>A	c.(1177-1179)GCC>ACC	p.A393T	BBS4_uc010ukv.1_Missense_Mutation_p.A381T|BBS4_uc002avc.2_Missense_Mutation_p.A221T|BBS4_uc002avd.2_Missense_Mutation_p.A401T	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	393	TPR 10.|Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0														Bardet-Biedl_syndrome				---	---	---	---
PML	5371	broad.mit.edu	37	15	74315304	74315304	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74315304G>A	uc002awv.2	+	3	878	c.738G>A	c.(736-738)GCG>GCA	p.A246A	PML_uc002awm.2_Silent_p.A246A|PML_uc002awl.2_Silent_p.A246A|PML_uc002awj.1_Silent_p.A246A|PML_uc002awk.2_Silent_p.A246A|PML_uc002awn.2_Silent_p.A246A|PML_uc002awo.2_Silent_p.A246A|PML_uc002awp.2_Silent_p.A246A|PML_uc002awq.2_Silent_p.A246A|PML_uc002awr.2_Silent_p.A246A|PML_uc002aws.2_Silent_p.A246A|PML_uc002awt.2_Silent_p.A246A|PML_uc002awu.2_Silent_p.A246A|PML_uc010ule.1_Intron|PML_uc002aww.1_Silent_p.A161A|PML_uc002awx.2_Silent_p.A4A|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	246	Potential.				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								---	---	---	---
STRA6	64220	broad.mit.edu	37	15	74490099	74490099	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74490099C>T	uc002axk.2	-	3	356	c.174G>A	c.(172-174)TCG>TCA	p.S58S	STRA6_uc002axi.2_5'Flank|STRA6_uc010ulh.1_Silent_p.S96S|STRA6_uc002axj.2_Silent_p.S97S|STRA6_uc010bji.2_Silent_p.S58S|STRA6_uc002axl.2_5'UTR|STRA6_uc002axm.2_Silent_p.S58S|STRA6_uc002axn.2_Silent_p.S58S|STRA6_uc010uli.1_Silent_p.S95S|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_Silent_p.S58S	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	58	Helical; (Potential).				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1																		---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74536466	74536466	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74536466C>T	uc002axo.2	+	2	556	c.162C>T	c.(160-162)TCC>TCT	p.S54S		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	257	C2.						protein binding			ovary(3)|skin(2)	5																		---	---	---	---
CLK3	1198	broad.mit.edu	37	15	74912515	74912515	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74912515T>C	uc010uln.1	+	3	1223	c.762T>C	c.(760-762)CAT>CAC	p.H254H	CLK3_uc002ayg.3_Silent_p.H106H|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.H254H|CLK3_uc002ayj.3_Silent_p.H106H|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	254	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2																		---	---	---	---
CYP1A2	1544	broad.mit.edu	37	15	75042486	75042486	+	Missense_Mutation	SNP	G	A	A	rs150893756	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75042486G>A	uc002ayr.1	+	2	471	c.407G>A	c.(406-408)CGC>CAC	p.R136H		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	136					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)													---	---	---	---
CYP1A2	1544	broad.mit.edu	37	15	75047412	75047412	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75047412C>T	uc002ayr.1	+	7	1598	c.1534C>T	c.(1534-1536)CGC>TGC	p.R512C		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	511				R -> LP (in Ref. 2; AAA35738).	alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)													---	---	---	---
SCAMP5	192683	broad.mit.edu	37	15	75308975	75308975	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75308975G>A	uc002azk.1	+	4	340	c.178G>A	c.(178-180)GCG>ACG	p.A60T	SCAMP5_uc002azl.1_Missense_Mutation_p.A60T|SCAMP5_uc002azm.1_Missense_Mutation_p.A60T|SCAMP5_uc002azn.1_Missense_Mutation_p.A60T|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	60	Helical; (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1																		---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75968067	75968067	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75968067G>A	uc002baw.2	-	10	6886	c.6793C>T	c.(6793-6795)CGC>TGC	p.R2265C		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	2265	Cytoplasmic (Potential).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75981657	75981657	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75981657C>T	uc002baw.2	-	3	1842	c.1749G>A	c.(1747-1749)CCG>CCA	p.P583P		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	583	Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3																		---	---	---	---
SGK269	79834	broad.mit.edu	37	15	77426055	77426055	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77426055T>C	uc002bcm.2	-	5	3677	c.3369A>G	c.(3367-3369)CCA>CCG	p.P1123P		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1123					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)														---	---	---	---
CHRNA3	1136	broad.mit.edu	37	15	78894011	78894011	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78894011C>T	uc002bec.2	-	5	1159	c.973G>A	c.(973-975)GTG>ATG	p.V325M	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.V325M	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	325	Helical; (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79063957	79063957	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79063957C>T	uc002bej.3	-	15	2557	c.2346G>A	c.(2344-2346)CCG>CCA	p.P782P	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.P782P	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	782	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
FAM108C1	58489	broad.mit.edu	37	15	81041945	81041945	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81041945G>A	uc002bfu.2	+	2	801	c.682G>A	c.(682-684)GCG>ACG	p.A228T	FAM108C1_uc002bft.2_Intron	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	hypothetical protein LOC58489	228							hydrolase activity				0																		---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81666342	81666342	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81666342G>A	uc002bgo.1	-	1	77	c.77C>T	c.(76-78)TCT>TTT	p.S26F	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.S26F	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	26	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2																		---	---	---	---
FAM154B	283726	broad.mit.edu	37	15	82564031	82564031	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82564031T>C	uc002bgv.2	+	2	210	c.141T>C	c.(139-141)GGT>GGC	p.G47G	FAM154B_uc010unr.1_Silent_p.G32G|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	47										skin(2)	2																		---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84651204	84651204	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:84651204T>C	uc002bjz.3	+	21	3048	c.2824T>C	c.(2824-2826)TCT>CCT	p.S942P	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S942P|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.S942P	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	942	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383249	85383249	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85383249C>T	uc002ble.2	+	5	1512	c.1345C>T	c.(1345-1347)CTG>TTG	p.L449L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	449					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
FANCI	55215	broad.mit.edu	37	15	89848354	89848354	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89848354T>C	uc010bnp.1	+	29	3157	c.3067T>C	c.(3067-3069)TTG>CTG	p.L1023L	FANCI_uc002bnm.1_Silent_p.L963L|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.L784L|FANCI_uc002bnq.1_Silent_p.L436L	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1023					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
AP3S2	10239	broad.mit.edu	37	15	90451554	90451554	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90451554C>T	uc002bos.3	-	3	414	c.259G>A	c.(259-261)GCC>ACC	p.A87T	C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.A87T	NM_182616	NP_872422	P59780	AP3S2_HUMAN	hypothetical protein LOC348110	Error:Variant_position_missing_in_P59780_after_alignment					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)															---	---	---	---
TTLL13	440307	broad.mit.edu	37	15	90799471	90799471	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90799471G>A	uc002bpd.1	+	6	935	c.647G>A	c.(646-648)CGA>CAA	p.R216Q	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	216	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)															---	---	---	---
TTLL13	440307	broad.mit.edu	37	15	90800412	90800412	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90800412G>A	uc002bpd.1	+	7	1036	c.748G>A	c.(748-750)GTC>ATC	p.V250I	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	250	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)															---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93489428	93489428	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93489428C>T	uc002bsp.2	+	12	1934	c.1359C>T	c.(1357-1359)ATC>ATT	p.I453I	CHD2_uc002bsn.2_Silent_p.I453I|CHD2_uc002bso.1_Silent_p.I453I|CHD2_uc010urb.1_Silent_p.I466I|CHD2_uc010bof.1_RNA	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	453	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
RGMA	56963	broad.mit.edu	37	15	93595502	93595502	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93595502C>T	uc002bss.1	-	3	638	c.366G>A	c.(364-366)TCG>TCA	p.S122S	RGMA_uc002bsq.1_Silent_p.S106S|RGMA_uc010boi.1_Silent_p.S13S|RGMA_uc002bsr.1_Silent_p.S13S|RGMA_uc010urc.1_Silent_p.S130S	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	122					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)															---	---	---	---
PGPEP1L	145814	broad.mit.edu	37	15	99511846	99511846	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99511846G>A	uc002bum.2	-	5	658	c.452C>T	c.(451-453)TCG>TTG	p.S151L	PGPEP1L_uc010bop.2_Missense_Mutation_p.R96C|PGPEP1L_uc002bun.2_RNA	NM_001102612	NP_001096082	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase 1-like protein	151					proteolysis		cysteine-type peptidase activity				0																		---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101569367	101569367	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101569367C>T	uc002bwr.2	+	20	3212	c.2893C>T	c.(2893-2895)CAG>TAG	p.Q965*	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	965					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)															---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101606891	101606891	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101606891G>A	uc002bwr.2	+	33	6134	c.5815G>A	c.(5815-5817)GCC>ACC	p.A1939T	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1939					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)															---	---	---	---
SNRPA1	6627	broad.mit.edu	37	15	101821975	101821975	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101821975T>C	uc002bww.2	-	9	799	c.722A>G	c.(721-723)GAT>GGT	p.D241G	SNRPA1_uc002bwx.2_RNA|SNRPA1_uc010bpc.2_RNA	NM_003090	NP_003081	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	241						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			kidney(1)	1	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---
AXIN1	8312	broad.mit.edu	37	16	338227	338227	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:338227G>A	uc002cgp.1	-	11	2661	c.2484C>T	c.(2482-2484)AGC>AGT	p.S828S	AXIN1_uc002cgq.1_Silent_p.S792S	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	828	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)																---	---	---	---
MRPL28	10573	broad.mit.edu	37	16	418565	418565	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:418565C>T	uc002cgr.1	-	3	528	c.512G>A	c.(511-513)CGG>CAG	p.R171Q	MRPL28_uc010bqu.1_Missense_Mutation_p.R171Q|MRPL28_uc002cgs.1_Missense_Mutation_p.R171Q|MRPL28_uc002cgt.1_Missense_Mutation_p.R171Q	NM_006428	NP_006419	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28 precursor	171					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)																---	---	---	---
RHOT2	89941	broad.mit.edu	37	16	722950	722950	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:722950C>T	uc002cip.2	+	18	1617	c.1550C>T	c.(1549-1551)ACC>ATC	p.T517I	RHOT2_uc002ciq.2_Missense_Mutation_p.T410I|RHOT2_uc010bqy.2_Missense_Mutation_p.T296I|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	517	Miro 2.|Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)																---	---	---	---
RPUSD1	113000	broad.mit.edu	37	16	836152	836152	+	Missense_Mutation	SNP	G	A	A	rs147626249		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:836152G>A	uc002cka.2	-	5	971	c.737C>T	c.(736-738)TCG>TTG	p.S246L	RPUSD1_uc002ckb.2_Missense_Mutation_p.S246L|RPUSD1_uc002ckc.2_Missense_Mutation_p.S117L|RPUSD1_uc002ckd.2_3'UTR|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing	246					pseudouridine synthesis		pseudouridine synthase activity|RNA binding				0		Hepatocellular(780;0.00335)																---	---	---	---
TPSD1	23430	broad.mit.edu	37	16	1306669	1306669	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1306669G>A	uc002clb.1	+	2	244	c.235G>A	c.(235-237)GCG>ACG	p.A79T	TPSD1_uc010brm.1_Missense_Mutation_p.A17T	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)																---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1391384	1391384	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1391384T>G	uc002clk.1	+	8	730	c.730T>G	c.(730-732)TTC>GTC	p.F244V	BAIAP3_uc002clj.2_Missense_Mutation_p.F226V|BAIAP3_uc010uuz.1_Missense_Mutation_p.F209V|BAIAP3_uc010uva.1_Missense_Mutation_p.F181V|BAIAP3_uc010uvb.1_Missense_Mutation_p.F261V|BAIAP3_uc010uvc.1_Missense_Mutation_p.F209V	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	244	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)																---	---	---	---
CRAMP1L	57585	broad.mit.edu	37	16	1712579	1712579	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1712579G>A	uc010uvh.1	+	11	2502	c.2502G>A	c.(2500-2502)CCG>CCA	p.P834P	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	834						nucleus	DNA binding				0																		---	---	---	---
EME2	197342	broad.mit.edu	37	16	1824335	1824335	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1824335C>T	uc002cmq.1	+	3	459	c.459C>T	c.(457-459)GGC>GGT	p.G153G	NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.G153G	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	153					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3													Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
SPSB3	90864	broad.mit.edu	37	16	1827312	1827312	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1827312A>C	uc002cmr.2	-	6	887	c.854T>G	c.(853-855)CTG>CGG	p.L285R	SPSB3_uc002cms.2_Missense_Mutation_p.L157R|SPSB3_uc002cmt.2_Missense_Mutation_p.L157R|SPSB3_uc002cmu.2_Missense_Mutation_p.L285R|SPSB3_uc002cmv.2_Missense_Mutation_p.L157R	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	285	SOCS box.				intracellular signal transduction						0																		---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2376409	2376409	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2376409C>T	uc002cpy.1	-						ABCA3_uc010bsk.1_Intron|ABCA3_uc010bsl.1_Intron|ABCA3_uc002cpz.1_Intron	NM_001089	NP_001080			ATP-binding cassette, sub-family A member 3						response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)																---	---	---	---
AMDHD2	51005	broad.mit.edu	37	16	2577818	2577818	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2577818G>A	uc002cqq.2	+	5	557	c.460G>A	c.(460-462)GCG>ACG	p.A154T	AMDHD2_uc002cqp.2_Missense_Mutation_p.A154T|AMDHD2_uc010uwc.1_Missense_Mutation_p.A154T|AMDHD2_uc010uwd.1_5'UTR	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	154				A -> T (in Ref. 1; AAD27723).	N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4																		---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2810378	2810378	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2810378G>A	uc002crk.2	+	10	1459	c.910G>A	c.(910-912)GGG>AGG	p.G304R	SRRM2_uc002crj.1_Missense_Mutation_p.G208R|SRRM2_uc002crl.1_Missense_Mutation_p.G304R|SRRM2_uc010bsu.1_Missense_Mutation_p.G208R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	304	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
ZSCAN10	84891	broad.mit.edu	37	16	3140022	3140022	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3140022C>T	uc002ctv.1	-	5	1336	c.1248G>A	c.(1246-1248)CCG>CCA	p.P416P	ZSCAN10_uc002cty.1_Silent_p.P77P|ZSCAN10_uc002ctw.1_Silent_p.P334P|ZSCAN10_uc002ctx.1_Silent_p.P344P	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	416					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF213	7760	broad.mit.edu	37	16	3191292	3191292	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3191292G>A	uc010uws.1	+	6	1771	c.1324G>A	c.(1324-1326)GCG>ACG	p.A442T	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.A442T|ZNF213_uc010uwt.1_3'UTR|uc002cuf.1_5'Flank	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	442	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
CLUAP1	23059	broad.mit.edu	37	16	3551057	3551057	+	5'UTR	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3551057A>C	uc002cvk.1	+	1					CLUAP1_uc002cvj.1_5'UTR|CLUAP1_uc002cvl.1_5'UTR	NM_015041	NP_055856			clusterin associated protein 1 isoform 1							nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3																OREG0023570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4463375	4463375	+	Missense_Mutation	SNP	C	T	T	rs143239749	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4463375C>T	uc002cwh.3	-	2	211	c.91G>A	c.(91-93)GCC>ACC	p.A31T	CORO7_uc002cwf.2_Missense_Mutation_p.A31T|CORO7_uc002cwg.3_5'UTR|CORO7_uc010uxh.1_Missense_Mutation_p.A31T|CORO7_uc010uxi.1_Missense_Mutation_p.A31T|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_5'UTR|CORO7_uc010btr.1_Intron	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	31						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0																		---	---	---	---
MGRN1	23295	broad.mit.edu	37	16	4700454	4700454	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4700454T>C	uc002cwz.2	+	2	313	c.177T>C	c.(175-177)GAT>GAC	p.D59D	MGRN1_uc002cxa.2_Silent_p.D59D|MGRN1_uc010btx.2_Silent_p.D59D|MGRN1_uc010btw.2_Silent_p.D59D|MGRN1_uc002cxb.2_Silent_p.D59D|MGRN1_uc010uxo.1_Silent_p.D59D|MGRN1_uc010uxp.1_Silent_p.D59D|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	59					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
PPL	5493	broad.mit.edu	37	16	4950862	4950862	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4950862C>A	uc002cyd.1	-	6	665	c.575G>T	c.(574-576)AGC>ATC	p.S192I		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	192	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11272185	11272185	+	Intron	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11272185A>C	uc002dao.2	+						CLEC16A_uc002dap.2_Intron	NM_015226	NP_056041			C-type lectin domain family 16, member A											ovary(1)|central_nervous_system(1)	2																		---	---	---	---
BFAR	51283	broad.mit.edu	37	16	14743706	14743706	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14743706G>A	uc002dco.2	+	4	795	c.514G>A	c.(514-516)GAC>AAC	p.D172N	BFAR_uc002dcm.2_Missense_Mutation_p.D172N|BFAR_uc002dcn.2_Silent_p.T103T|BFAR_uc002dcp.2_Intron|BFAR_uc010uzh.1_Missense_Mutation_p.D44N	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	172	Lumenal (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
NDE1	54820	broad.mit.edu	37	16	15788062	15788062	+	Silent	SNP	G	A	A	rs1123418		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15788062G>A	uc002ddt.1	+	6	787	c.744G>A	c.(742-744)GCG>GCA	p.A248A	NDE1_uc010uzy.1_Silent_p.A248A|NDE1_uc002dds.2_Silent_p.A248A|NDE1_uc002ddu.1_Silent_p.A185A	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	248	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1																		---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15811163	15811163	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15811163C>T	uc002ddy.2	-	38	5445	c.5338G>A	c.(5338-5340)GCC>ACC	p.A1780T	MYH11_uc002ddv.2_Missense_Mutation_p.A1787T|MYH11_uc002ddw.2_Missense_Mutation_p.A1780T|MYH11_uc002ddx.2_Missense_Mutation_p.A1787T|MYH11_uc010bvg.2_Missense_Mutation_p.A1612T|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.A486T	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1780	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15								T	CBFB	AML								---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15814829	15814829	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15814829T>C	uc002ddy.2	-	33	4765	c.4658A>G	c.(4657-4659)GAC>GGC	p.D1553G	MYH11_uc002ddv.2_Missense_Mutation_p.D1560G|MYH11_uc002ddw.2_Missense_Mutation_p.D1553G|MYH11_uc002ddx.2_Missense_Mutation_p.D1560G|MYH11_uc010bvg.2_Missense_Mutation_p.D1385G|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.D259G|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1553	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15								T	CBFB	AML								---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15853542	15853542	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15853542C>T	uc002ddy.2	-	12	1399	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	MYH11_uc002ddv.2_Missense_Mutation_p.R438H|MYH11_uc002ddw.2_Missense_Mutation_p.R431H|MYH11_uc002ddx.2_Missense_Mutation_p.R438H|MYH11_uc010bvg.2_Missense_Mutation_p.R263H|MYH11_uc002dea.1_Missense_Mutation_p.R137H	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	431	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15								T	CBFB	AML								---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16225637	16225637	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16225637C>T	uc010bvi.2	+						ABCC1_uc010bvj.2_Intron|ABCC1_uc010bvk.2_Intron|ABCC1_uc010bvl.2_Intron|ABCC1_uc010bvm.2_Intron|ABCC1_uc002del.3_Intron	NM_004996	NP_004987			ATP-binding cassette, sub-family C, member 1						hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)													---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16267261	16267261	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16267261C>T	uc002den.3	-	21	2704	c.2667G>A	c.(2665-2667)AGG>AGA	p.R889R	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	889	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)														---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17202689	17202689	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:17202689T>C	uc002dfa.2	-	12	2828	c.2743A>G	c.(2743-2745)ACT>GCT	p.T915A		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	915	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4																		---	---	---	---
NOMO2	283820	broad.mit.edu	37	16	18555052	18555052	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18555052C>T	uc002dfe.2	-	7	694	c.622G>A	c.(622-624)GCG>ACG	p.A208T	NOMO2_uc002dff.2_Missense_Mutation_p.A208T|NOMO2_uc010bvx.2_Missense_Mutation_p.A41T	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	nodal modulator 2 isoform 1	208	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			skin(1)	1																		---	---	---	---
SYT17	51760	broad.mit.edu	37	16	19278340	19278340	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19278340G>A	uc002dfw.2	+	8	1698	c.1367G>A	c.(1366-1368)AGC>AAC	p.S456N	SYT17_uc002dfx.2_Missense_Mutation_p.S395N|SYT17_uc002dfy.2_Missense_Mutation_p.S452N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	456						membrane|synaptic vesicle	transporter activity			ovary(1)	1																		---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20380924	20380924	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20380924C>T	uc002dhc.1	-	8	1229	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	336					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1																		---	---	---	---
UQCRC2	7385	broad.mit.edu	37	16	21983256	21983256	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21983256A>T	uc002djx.2	+	10	915	c.779A>T	c.(778-780)GAA>GTA	p.E260V	UQCRC2_uc002djy.2_Missense_Mutation_p.E260V|UQCRC2_uc010bxa.2_RNA|UQCRC2_uc002djz.1_Missense_Mutation_p.E127V	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	260					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2				GBM - Glioblastoma multiforme(48;0.0264)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23091276	23091276	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23091276G>A	uc002dll.2	-	13	2167	c.2167C>T	c.(2167-2169)CAC>TAC	p.H723Y	USP31_uc010bxm.2_Intron	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	723		Proton acceptor (By similarity).			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23096246	23096246	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23096246G>T	uc002dll.2	-	11	1765	c.1765C>A	c.(1765-1767)CGT>AGT	p.R589S	USP31_uc010bxm.2_5'UTR	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	589					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
PALB2	79728	broad.mit.edu	37	16	23614847	23614847	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23614847G>A	uc002dlx.1	-	13	3694	c.3494C>T	c.(3493-3495)TCG>TTG	p.S1165L		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1165	Interaction with RAD51 and BRCA2.|WD 7.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)				F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27539991	27539991	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27539991C>T	uc002dov.1	-	6	941	c.901G>A	c.(901-903)GGG>AGG	p.G301R	GTF3C1_uc002dou.2_Missense_Mutation_p.G301R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	301						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5																		---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27784524	27784524	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27784524G>A	uc002dow.2	+	23	4327	c.4303G>A	c.(4303-4305)GAA>AAA	p.E1435K		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1435										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8																		---	---	---	---
XPO6	23214	broad.mit.edu	37	16	28117503	28117503	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28117503C>T	uc002dpa.1	-	20	3146	c.2645G>A	c.(2644-2646)GGC>GAC	p.G882D	XPO6_uc002dpb.1_Missense_Mutation_p.G868D|XPO6_uc010vcp.1_Missense_Mutation_p.G882D	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	882					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
XPO6	23214	broad.mit.edu	37	16	28145176	28145176	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28145176C>T	uc002dpa.1	-	11	2023	c.1522G>A	c.(1522-1524)GCC>ACC	p.A508T	XPO6_uc002dpb.1_Missense_Mutation_p.A494T|XPO6_uc010vcp.1_Missense_Mutation_p.A508T	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	508					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
APOB48R	55911	broad.mit.edu	37	16	28509138	28509138	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28509138G>A	uc002dqb.1	+	3	2759	c.2749G>A	c.(2749-2751)GGG>AGG	p.G917R	uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.G455R	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	917	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0																		---	---	---	---
IL27	246778	broad.mit.edu	37	16	28511129	28511129	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28511129G>A	uc002dqc.2	-	5	598	c.575C>T	c.(574-576)CCG>CTG	p.P192L	uc010vct.1_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	192					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0																		---	---	---	---
ATP2A1	487	broad.mit.edu	37	16	28906263	28906263	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28906263G>A	uc002dro.1	+	12	1592	c.1408G>A	c.(1408-1410)GCC>ACC	p.A470T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.A470T|ATP2A1_uc002drp.1_Missense_Mutation_p.A345T	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	470	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
C16orf53	79447	broad.mit.edu	37	16	29828545	29828545	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29828545C>T	uc002dug.3	+	2	816	c.497C>T	c.(496-498)ACG>ATG	p.T166M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	PTIP-associated 1 protein	166											0																OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29999115	29999115	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29999115G>A	uc002dva.1	+	16	4305	c.3522G>A	c.(3520-3522)CCG>CCA	p.P1174P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Silent_p.P1181P|TAOK2_uc002dvd.1_Silent_p.P1001P	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1174	Helical; (Potential).				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
GDPD3	79153	broad.mit.edu	37	16	30124065	30124065	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30124065G>A	uc002dwp.2	-	3	311	c.232C>T	c.(232-234)CGG>TGG	p.R78W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.R16W|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	78	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0																OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZNF785	146540	broad.mit.edu	37	16	30593992	30593992	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30593992G>A	uc002dyw.1	-	3	1185	c.1107C>T	c.(1105-1107)CGC>CGT	p.R369R	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.R354R|ZNF785_uc010vez.1_Silent_p.R334R	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
PRR14	78994	broad.mit.edu	37	16	30666220	30666220	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30666220G>A	uc002dyy.2	+	8	1187	c.929G>A	c.(928-930)CGC>CAC	p.R310H	PRR14_uc002dyz.2_Missense_Mutation_p.R155H|PRR14_uc002dza.2_Missense_Mutation_p.R310H|PRR14_uc002dzb.1_Missense_Mutation_p.R124H	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	310	Pro-rich.										0			Colorectal(24;0.103)															---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30723463	30723463	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30723463G>A	uc002dze.1	+	12	2185	c.1800G>A	c.(1798-1800)ACG>ACA	p.T600T	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.T457T|SRCAP_uc010bzz.1_Silent_p.T170T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	600					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---
RNF40	9810	broad.mit.edu	37	16	30779279	30779279	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30779279A>G	uc002dzq.2	+	12	1617	c.1494A>G	c.(1492-1494)AAA>AAG	p.K498K	RNF40_uc010caa.2_Silent_p.K498K|RNF40_uc010cab.2_Silent_p.K398K|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.K498K|RNF40_uc010vfb.1_Silent_p.K190K|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	498	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)															---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31092480	31092480	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31092480G>A	uc002eap.2	+	2	5124	c.4835G>A	c.(4834-4836)AGC>AAC	p.S1612N		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2																		---	---	---	---
MYST1	84148	broad.mit.edu	37	16	31138555	31138555	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31138555G>A	uc002eay.2	+	5	580	c.562G>A	c.(562-564)GAA>AAA	p.E188K	MYST1_uc002eax.2_Missense_Mutation_p.E188K|MYST1_uc002eaz.2_Missense_Mutation_p.E30K|MYST1_uc002eba.2_5'UTR|MYST1_uc002ebb.2_5'Flank	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	188					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1																		---	---	---	---
TRIM72	493829	broad.mit.edu	37	16	31232241	31232241	+	Splice_Site	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31232241T>C	uc002ebn.1	+	5	969	c.740_splice	c.e5+2	p.R247_splice		NM_001008274	NP_001008275			tripartite motif-containing 72						exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0																		---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31283278	31283278	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31283278G>T	uc002ebq.2	+	7	767	c.669G>T	c.(667-669)GGG>GGT	p.G223G	ITGAM_uc002ebr.2_Silent_p.G223G	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	223	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1																		---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31284825	31284825	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31284825C>T	uc002ebq.2	+	8	942	c.844C>T	c.(844-846)CGC>TGC	p.R282C	ITGAM_uc002ebr.2_Missense_Mutation_p.R282C|ITGAM_uc010cam.1_5'Flank	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	282	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1																		---	---	---	---
ARMC5	79798	broad.mit.edu	37	16	31473837	31473837	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31473837C>T	uc002ecc.2	+	3	1498	c.969C>T	c.(967-969)GGC>GGT	p.G323G	ARMC5_uc010vfn.1_Silent_p.G418G|ARMC5_uc010vfo.1_Silent_p.G355G|ARMC5_uc002eca.3_Silent_p.G323G|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Silent_p.G323G	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	323	ARM 5.						binding			pancreas(1)	1																		---	---	---	---
ARMC5	79798	broad.mit.edu	37	16	31477235	31477235	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31477235G>A	uc002ecc.2	+	5	2458	c.1929G>A	c.(1927-1929)ACG>ACA	p.T643T	ARMC5_uc010vfn.1_Silent_p.T738T|ARMC5_uc010vfo.1_Silent_p.T675T|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Silent_p.T451T|ARMC5_uc002ecb.2_Silent_p.T643T	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	643							binding			pancreas(1)	1																		---	---	---	---
C16orf58	64755	broad.mit.edu	37	16	31510649	31510649	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31510649T>C	uc002eci.1	-	5	586	c.574A>G	c.(574-576)ACC>GCC	p.T192A	C16orf58_uc010vfq.1_Missense_Mutation_p.T50A	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	192						integral to membrane				ovary(1)|breast(1)	2																		---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927586	31927586	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31927586G>A	uc002ecs.3	+	4	2225	c.2016G>A	c.(2014-2016)AGG>AGA	p.R672R		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	672	C2H2-type 13.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46714715	46714715	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46714715G>T	uc002eef.3	-	5	473	c.374C>A	c.(373-375)TCC>TAC	p.S125Y	VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.S86Y	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	125					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)																---	---	---	---
N4BP1	9683	broad.mit.edu	37	16	48594921	48594921	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48594921G>A	uc002efp.2	-	2	1870	c.1633C>T	c.(1633-1635)CGT>TGT	p.R545C		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	545					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)																---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670430	49670430	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49670430T>C	uc002efs.2	-	5	2931	c.2633A>G	c.(2632-2634)GAC>GGC	p.D878G	ZNF423_uc010vgn.1_Missense_Mutation_p.D761G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	878					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)																---	---	---	---
CES7	221223	broad.mit.edu	37	16	55903594	55903594	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55903594G>A	uc002eip.2	-	4	629	c.480C>T	c.(478-480)TCC>TCT	p.S160S	CES7_uc002eio.2_Silent_p.S160S|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.S54S	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	160						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)														---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57060576	57060576	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57060576G>A	uc002ekk.1	+	6	1946	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R379H|NLRC5_uc002ekl.2_Missense_Mutation_p.R379H|NLRC5_uc002ekm.2_Missense_Mutation_p.R379H|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	574					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)																---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57060597	57060597	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57060597C>T	uc002ekk.1	+	6	1967	c.1742C>T	c.(1741-1743)GCG>GTG	p.A581V	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.A386V|NLRC5_uc002ekl.2_Missense_Mutation_p.A386V|NLRC5_uc002ekm.2_Missense_Mutation_p.A386V|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	581					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)																---	---	---	---
POLR2C	5432	broad.mit.edu	37	16	57503122	57503122	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57503122A>G	uc002elt.1	+	5	390	c.304A>G	c.(304-306)ACC>GCC	p.T102A	POLR2C_uc010vhq.1_Missense_Mutation_p.T102A	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	102					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0																		---	---	---	---
GPR56	9289	broad.mit.edu	37	16	57695814	57695814	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57695814T>A	uc002emb.2	+	14	2180	c.1888T>A	c.(1888-1890)TTT>ATT	p.F630I	GPR56_uc002ema.1_Missense_Mutation_p.F455I|GPR56_uc002emc.2_Missense_Mutation_p.F624I|GPR56_uc002emf.2_Missense_Mutation_p.F624I|GPR56_uc010vhs.1_Missense_Mutation_p.F630I|GPR56_uc002emd.2_Missense_Mutation_p.F624I|GPR56_uc002eme.2_Missense_Mutation_p.F624I|GPR56_uc010vht.1_Missense_Mutation_p.F629I|GPR56_uc002emg.3_Missense_Mutation_p.F624I|GPR56_uc010vhu.1_Missense_Mutation_p.F449I	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	630	Helical; Name=6; (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0																		---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57918222	57918222	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57918222G>A	uc002emt.2	-	33	3667	c.3602C>T	c.(3601-3603)CCG>CTG	p.P1201L	CNGB1_uc010cdh.2_Missense_Mutation_p.P1195L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1201	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4																		---	---	---	---
C16orf80	29105	broad.mit.edu	37	16	58149340	58149340	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58149340G>A	uc002enb.1	-	4	575	c.298C>T	c.(298-300)CGT>TGT	p.R100C		NM_013242	NP_037374	Q9Y6A4	CP080_HUMAN	transcription factor IIB	100					multicellular organismal development						0																		---	---	---	---
PRSS54	221191	broad.mit.edu	37	16	58314269	58314269	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58314269C>T	uc002enf.2	-	7	1442	c.1047G>A	c.(1045-1047)GCG>GCA	p.A349A	PRSS54_uc002eng.2_Silent_p.A349A|PRSS54_uc010vie.1_Silent_p.A250A|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	349					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
CA7	766	broad.mit.edu	37	16	66881124	66881124	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66881124C>T	uc002eqi.2	+	2	341	c.232C>T	c.(232-234)CGA>TGA	p.R78*	uc002eqh.2_Intron|CA7_uc002eqj.2_Nonsense_Mutation_p.R22*	NM_005182	NP_005173	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	78					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)														---	---	---	---
NOL3	8996	broad.mit.edu	37	16	67208517	67208517	+	Intron	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67208517G>T	uc010vjd.1	+						NOL3_uc010vjc.1_Intron|NOL3_uc002erp.2_Intron					RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;						anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)														---	---	---	---
CTCF	10664	broad.mit.edu	37	16	67662409	67662409	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67662409C>A	uc002etl.2	+	9	1945	c.1655C>A	c.(1654-1656)CCT>CAT	p.P552H	CTCF_uc010cek.2_Missense_Mutation_p.P224H|CTCF_uc002etm.1_Missense_Mutation_p.P41H	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	552					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)														---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67914081	67914081	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67914081G>A	uc002eur.2	+	17	2225	c.2059G>A	c.(2059-2061)GCC>ACC	p.A687T	EDC4_uc010cer.2_Missense_Mutation_p.A306T|EDC4_uc010vkg.1_Missense_Mutation_p.A619T|EDC4_uc002eus.2_Missense_Mutation_p.A417T|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	687					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)														---	---	---	---
WWP2	11060	broad.mit.edu	37	16	69942692	69942692	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69942692C>T	uc002exu.1	+	10	1032	c.943C>T	c.(943-945)CGT>TGT	p.R315C	WWP2_uc002ext.2_Missense_Mutation_p.R315C|WWP2_uc002exv.1_Missense_Mutation_p.R315C|WWP2_uc010vlm.1_Missense_Mutation_p.R199C	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	315	WW 1.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6																		---	---	---	---
WWP2	11060	broad.mit.edu	37	16	69963368	69963368	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69963368G>T	uc002exu.1	+	13	1341	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	WWP2_uc002exv.1_Nonsense_Mutation_p.G418*|WWP2_uc010vlm.1_Nonsense_Mutation_p.G302*|WWP2_uc010vln.1_Nonsense_Mutation_p.G36*|WWP2_uc002exw.1_5'UTR	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	418	WW 3.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6																OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70172927	70172927	+	Splice_Site	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70172927G>A	uc002eyf.1	+	11	2272	c.1315_splice	c.e11+1	p.P439_splice	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Splice_Site_p.P339_splice|PDPR_uc002eyg.1_Splice_Site_p.P167_splice	NM_017990	NP_060460			pyruvate dehydrogenase phosphatase regulatory						glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)														---	---	---	---
FUK	197258	broad.mit.edu	37	16	70501297	70501297	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70501297C>T	uc002eyy.2	+	7	563	c.505C>T	c.(505-507)CGG>TGG	p.R169W	FUK_uc010vmb.1_3'UTR|FUK_uc010cft.2_Missense_Mutation_p.R201W|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	169						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71690580	71690580	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71690580T>C	uc002fax.2	-	15	2290	c.2284A>G	c.(2284-2286)ATC>GTC	p.I762V	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.I695V	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	762						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72992888	72992888	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72992888C>T	uc002fck.2	-	2	1830	c.1157G>A	c.(1156-1158)GGC>GAC	p.G386D	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	386					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)																---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75263765	75263765	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75263765C>T	uc002fdv.2	-	7	2380	c.2257G>A	c.(2257-2259)GCC>ACC	p.A753T	BCAR1_uc002fdt.2_Missense_Mutation_p.A206T|BCAR1_uc002fdu.2_Missense_Mutation_p.A543T|BCAR1_uc010cgu.2_Missense_Mutation_p.A742T|BCAR1_uc010vna.1_Missense_Mutation_p.A751T|BCAR1_uc010vnb.1_Missense_Mutation_p.A799T|BCAR1_uc002fdw.2_Missense_Mutation_p.A753T|BCAR1_uc010vnc.1_Missense_Mutation_p.A605T|BCAR1_uc010vnd.1_Missense_Mutation_p.A771T|BCAR1_uc002fdx.2_Missense_Mutation_p.A771T	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	753	Divergent helix-loop-helix motif.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)														---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76555939	76555939	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:76555939C>T	uc002feu.1	+	19	2925	c.2540C>T	c.(2539-2541)CCG>CTG	p.P847L	CNTNAP4_uc002fev.1_Missense_Mutation_p.P711L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P774L|CNTNAP4_uc002fex.1_Missense_Mutation_p.P850L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	847	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81249919	81249919	+	Missense_Mutation	SNP	C	T	T	rs117142104	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81249919C>T	uc002fgh.1	-	2	394	c.394G>A	c.(394-396)GGG>AGG	p.G132R	PKD1L2_uc002fgj.2_Missense_Mutation_p.G132R	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	132	Extracellular (Potential).|C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81253808	81253808	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81253808G>A	uc002fgh.1	-	1	168	c.168C>T	c.(166-168)TGC>TGT	p.C56C	PKD1L2_uc002fgj.2_Silent_p.C56C	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	56	Extracellular (Potential).|C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81934352	81934352	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81934352G>A	uc002fgt.2	+	14	1481	c.1329G>A	c.(1327-1329)TCG>TCA	p.S443S	PLCG2_uc010chg.1_Silent_p.S443S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	443	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8																		---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81944173	81944173	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81944173C>T	uc002fgt.2	+	18	1934	c.1782C>T	c.(1780-1782)GGC>GGT	p.G594G	PLCG2_uc010chg.1_Silent_p.G594G	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	594	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8																		---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81965249	81965249	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81965249T>A	uc002fgt.2	+	25	2881	c.2729T>A	c.(2728-2730)ATT>AAT	p.I910N		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	910					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8																		---	---	---	---
MLYCD	23417	broad.mit.edu	37	16	83948976	83948976	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83948976G>A	uc002fgz.2	+	5	1384	c.1364G>A	c.(1363-1365)CGC>CAC	p.R455H		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	455					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0																		---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84218535	84218535	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84218535G>A	uc002fhn.2	-	2	288	c.60C>T	c.(58-60)AGC>AGT	p.S20S	TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Silent_p.S20S|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.S20S	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	20					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1																		---	---	---	---
USP10	9100	broad.mit.edu	37	16	84806195	84806195	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84806195G>A	uc002fii.2	+	12	2189	c.2047G>A	c.(2047-2049)GTG>ATG	p.V683M	USP10_uc010voe.1_Missense_Mutation_p.V687M|USP10_uc010vof.1_Missense_Mutation_p.V245M|USP10_uc002fij.2_Missense_Mutation_p.V209M	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	683					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0																		---	---	---	---
IRF8	3394	broad.mit.edu	37	16	85948086	85948086	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:85948086G>A	uc002fjh.2	+	6	618	c.561G>A	c.(559-561)CCG>CCA	p.P187P	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	187					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)																---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87872417	87872417	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87872417C>T	uc002fkm.2	-	6	1018	c.946G>A	c.(946-948)GGG>AGG	p.G316R		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	316					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)														---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88901652	88901652	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88901652G>A	uc002fly.3	-	8	956	c.867C>T	c.(865-867)AAC>AAT	p.N289N	GALNS_uc010cid.2_Silent_p.N295N|GALNS_uc002flz.3_Translation_Start_Site	NM_000512	NP_000503	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	289		Calcium (By similarity).				lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)													---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89345633	89345633	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89345633G>A	uc002fmx.1	-	9	7778	c.7317C>T	c.(7315-7317)TTC>TTT	p.F2439F	ANKRD11_uc002fmy.1_Silent_p.F2439F|ANKRD11_uc002fnc.1_Silent_p.F2439F|ANKRD11_uc002fna.1_Silent_p.F104F|ANKRD11_uc002fnb.1_Silent_p.F2396F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2439						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)														---	---	---	---
TUBB3	10381	broad.mit.edu	37	16	90001817	90001817	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:90001817C>T	uc002fph.1	+	4	1023	c.958C>T	c.(958-960)CGC>TGC	p.R320C	TUBB3_uc002fpf.2_Missense_Mutation_p.R667C|TUBB3_uc010ciz.1_Missense_Mutation_p.R248C|TUBB3_uc002fpg.1_Missense_Mutation_p.R174C|TUBB3_uc002fpi.1_Missense_Mutation_p.R248C|TUBB3_uc002fpj.1_Missense_Mutation_p.R248C|TUBB3_uc010cjb.1_Missense_Mutation_p.R174C|TUBB3_uc002fpk.1_Missense_Mutation_p.R174C	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	320					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)														---	---	---	---
NXN	64359	broad.mit.edu	37	17	708453	708453	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:708453G>A	uc002fsa.2	-	6	947	c.855C>T	c.(853-855)GGC>GGT	p.G285G	NXN_uc010vqd.1_Intron|NXN_uc002frz.2_Silent_p.G36G|NXN_uc010vqe.1_Silent_p.G177G	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	285	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)														---	---	---	---
TUSC5	286753	broad.mit.edu	37	17	1183640	1183640	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1183640C>T	uc002fsi.1	+	1	684	c.345C>T	c.(343-345)CCC>CCT	p.P115P		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	115	Helical; (Potential).				response to biotic stimulus	integral to membrane		p.P115S(1)		skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
SMG6	23293	broad.mit.edu	37	17	2200581	2200581	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2200581A>G	uc002fub.1	-	4	2162	c.2107T>C	c.(2107-2109)TAC>CAC	p.Y703H		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	703					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4																		---	---	---	---
RAP1GAP2	23108	broad.mit.edu	37	17	2894595	2894595	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2894595T>C	uc010ckd.2	+	12	908	c.818T>C	c.(817-819)CTG>CCG	p.L273P	RAP1GAP2_uc010cke.2_Missense_Mutation_p.L258P	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	273	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1																		---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2996177	2996177	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2996177C>T	uc010vrb.1	-	1	114	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	38	Helical; Name=1; (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
ASPA	443	broad.mit.edu	37	17	3402247	3402247	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3402247G>A	uc010ckg.2	+	7	898	c.807G>A	c.(805-807)ACG>ACA	p.T269T	SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Silent_p.T269T	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	aspartoacylase	269					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)													---	---	---	---
TRPV3	162514	broad.mit.edu	37	17	3446758	3446758	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3446758A>G	uc002fvt.1	-						TRPV3_uc010vrh.1_Intron|TRPV3_uc010vri.1_Intron|TRPV3_uc010vrj.1_Intron|TRPV3_uc010vrk.1_Intron|TRPV3_uc010vrl.1_Intron|TRPV3_uc010vrm.1_Intron|TRPV3_uc002fvr.2_Intron|TRPV3_uc002fvu.2_Intron	NM_145068	NP_659505			transient receptor potential cation channel,							integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)													---	---	---	---
P2RX1	5023	broad.mit.edu	37	17	3806840	3806840	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3806840C>T	uc002fww.2	-							NM_002558	NP_002549			purinergic receptor P2X1						platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			ovary(1)|skin(1)	2				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)														---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3851105	3851105	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3851105G>T	uc002fxb.1	-	8	826	c.675C>A	c.(673-675)GCC>GCA	p.A225A	ATP2A3_uc002fwx.1_Silent_p.A225A|ATP2A3_uc002fwy.1_Silent_p.A225A|ATP2A3_uc002fwz.1_Silent_p.A225A|ATP2A3_uc002fxa.1_Silent_p.A225A|ATP2A3_uc002fxc.1_Silent_p.A225A|ATP2A3_uc002fxd.1_Silent_p.A225A	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	225	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)														---	---	---	---
SMTNL2	342527	broad.mit.edu	37	17	4497136	4497136	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4497136G>A	uc002fyf.1	+	4	817	c.750G>A	c.(748-750)ACG>ACA	p.T250T	SMTNL2_uc002fye.2_Silent_p.T106T	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	250											0				READ - Rectum adenocarcinoma(115;0.0325)														---	---	---	---
RPAIN	84268	broad.mit.edu	37	17	5329385	5329385	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5329385C>T	uc002gbq.2	+	4	978	c.408C>T	c.(406-408)ATC>ATT	p.I136I	RPAIN_uc010vsz.1_Silent_p.I136I|RPAIN_uc002gbp.1_Intron|RPAIN_uc010vta.1_Intron|RPAIN_uc010vtb.1_Silent_p.I136I|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Silent_p.I136I|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN	RPA interacting protein isoform b	136					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0																		---	---	---	---
AIPL1	23746	broad.mit.edu	37	17	6328845	6328845	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6328845C>T	uc002gcp.2	-	6	1185	c.1090G>A	c.(1090-1092)GCA>ACA	p.A364T	AIPL1_uc002gcq.2_Missense_Mutation_p.A304T|AIPL1_uc002gcr.2_Missense_Mutation_p.A301T|AIPL1_uc010clk.2_Missense_Mutation_p.A342T|AIPL1_uc010cll.2_Missense_Mutation_p.A340T|AIPL1_uc002gcs.2_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	364					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)														---	---	---	---
NLGN2	57555	broad.mit.edu	37	17	7320376	7320376	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7320376T>C	uc002ggt.1	+	7	1839	c.1766T>C	c.(1765-1767)GTG>GCG	p.V589A		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	589	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)																---	---	---	---
POLR2A	5430	broad.mit.edu	37	17	7417070	7417070	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7417070G>A	uc002ghf.3	+	29	5721	c.5487G>A	c.(5485-5487)TCG>TCA	p.S1829S		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1829	34.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)																---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578424	7578424	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578424A>G	uc002gim.2	-	5	700	c.506T>C	c.(505-507)ATG>ACG	p.M169T	TP53_uc002gig.1_Missense_Mutation_p.M169T|TP53_uc002gih.2_Missense_Mutation_p.M169T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M37T|TP53_uc010cng.1_Missense_Mutation_p.M37T|TP53_uc002gii.1_Missense_Mutation_p.M37T|TP53_uc010cnh.1_Missense_Mutation_p.M169T|TP53_uc010cni.1_Missense_Mutation_p.M169T|TP53_uc002gij.2_Missense_Mutation_p.M169T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M76T|TP53_uc002gio.2_Missense_Mutation_p.M37T|TP53_uc010vug.1_Missense_Mutation_p.M130T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	169	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|MT -> IS (in a sporadic cancer; 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.M169I(8)|p.0?(7)|p.M169V(3)|p.M169T(3)|p.V157_C176del20(1)|p.K164_P219del(1)|p.H168fs*69(1)|p.P151_V173del23(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.S149fs*72(1)|p.M169fs*2(1)|p.M169fs*12(1)|p.M169_T170insX(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)			---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7710586	7710586	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7710586C>T	uc002giu.1	+	61	9575	c.9561C>T	c.(9559-9561)GGC>GGT	p.G3187G	DNAH2_uc010cnm.1_Silent_p.G125G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3187	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
CYB5D1	124637	broad.mit.edu	37	17	7761538	7761538	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7761538A>T	uc002gjb.3	+	1	475	c.86A>T	c.(85-87)AAC>ATC	p.N29I	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Missense_Mutation_p.N29I	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	29	Cytochrome b5 heme-binding.						heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)														OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7803346	7803346	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7803346T>C	uc002gje.2	+	16	2827	c.2677T>C	c.(2677-2679)TCC>CCC	p.S893P	CHD3_uc002gjd.2_Missense_Mutation_p.S952P|CHD3_uc002gjf.2_Missense_Mutation_p.S893P	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	893	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)																---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7917326	7917326	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7917326A>G	uc002gjt.2	+	12	2466	c.2392A>G	c.(2392-2394)ATG>GTG	p.M798V		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	798	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)																---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8381732	8381732	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8381732C>T	uc002gll.2	-	39	5633	c.5537G>A	c.(5536-5538)CGC>CAC	p.R1846H	MYH10_uc002glm.2_Missense_Mutation_p.R1877H|MYH10_uc010cnx.2_Missense_Mutation_p.R1855H	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1846	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2																		---	---	---	---
CCDC42	146849	broad.mit.edu	37	17	8638419	8638419	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8638419C>T	uc002gln.2	-	6	1095	c.868G>A	c.(868-870)GAC>AAC	p.D290N	CCDC42_uc002glo.2_Missense_Mutation_p.D216N	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	290										ovary(1)	1																		---	---	---	---
USP43	124739	broad.mit.edu	37	17	9570015	9570015	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9570015T>C	uc010cod.2	+	3	687	c.687T>C	c.(685-687)GCT>GCC	p.A229A	USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Silent_p.A229A|USP43_uc010coe.2_Intron	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	229					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5																		---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9828912	9828912	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9828912C>T	uc002gmg.1	-	11	1180	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	GAS7_uc010vvc.1_Missense_Mutation_p.R154Q|GAS7_uc002gmh.1_Missense_Mutation_p.R200Q|GAS7_uc010vvd.1_Missense_Mutation_p.R292Q|GAS7_uc002gmi.2_Missense_Mutation_p.R276Q|GAS7_uc002gmj.1_Missense_Mutation_p.R280Q|GAS7_uc010coh.1_Missense_Mutation_p.R280Q	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	340	Potential.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2								T	MLL	AML*								---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9923135	9923135	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9923135G>A	uc002gmg.1	-	2	424	c.263C>T	c.(262-264)TCG>TTG	p.S88L	GAS7_uc010vvd.1_Missense_Mutation_p.S40L|GAS7_uc002gmi.2_Missense_Mutation_p.S24L|GAS7_uc002gmj.1_Missense_Mutation_p.S28L|GAS7_uc010coh.1_Missense_Mutation_p.S28L	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	88	WW.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2								T	MLL	AML*								---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12639605	12639605	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:12639605C>T	uc002gnn.2	+	6	842	c.543C>T	c.(541-543)GAC>GAT	p.D181D	MYOCD_uc002gno.2_Silent_p.D181D|MYOCD_uc002gnp.1_Silent_p.D85D	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	181	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)														---	---	---	---
CDRT1	374286	broad.mit.edu	37	17	15522651	15522651	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15522651C>A	uc002gov.3	-	1	368	c.176G>T	c.(175-177)GGC>GTC	p.G59V	TRIM16_uc002gor.1_Intron	NM_006382	NP_006373	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	59											0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)														---	---	---	---
TRIM16	10626	broad.mit.edu	37	17	15532000	15532000	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15532000C>T	uc002gox.2	-	9	2181	c.1624G>A	c.(1624-1626)GCC>ACC	p.A542T	TRIM16_uc002gor.1_Intron|TRIM16_uc002gow.2_Missense_Mutation_p.A326T|TRIM16_uc002goy.2_Missense_Mutation_p.A412T	NM_006470	NP_006461	O95361	TRI16_HUMAN	tripartite motif-containing 16	542	B30.2/SPRY.				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15973548	15973548	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15973548G>A	uc002gpo.2	-	31	4684	c.4444C>T	c.(4444-4446)CGG>TGG	p.R1482W	NCOR1_uc002gpn.2_Missense_Mutation_p.R1498W|NCOR1_uc002gpp.1_Missense_Mutation_p.R1389W|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Missense_Mutation_p.R66W|NCOR1_uc010coy.2_Missense_Mutation_p.R390W|NCOR1_uc010vwc.1_Missense_Mutation_p.R293W	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1482	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
NT5M	56953	broad.mit.edu	37	17	17226567	17226567	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17226567G>A	uc002grf.2	+						NT5M_uc002gre.2_Intron|NT5M_uc002grg.2_Intron	NM_020201	NP_064586			5',3'-nucleotidase, mitochondrial precursor						DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding				0																		---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17699170	17699170	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17699170G>A	uc002grm.2	+	3	3377	c.2908G>A	c.(2908-2910)GCC>ACC	p.A970T	RAI1_uc002grn.1_Missense_Mutation_p.A970T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	970						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)														---	---	---	---
FLII	2314	broad.mit.edu	37	17	18148975	18148975	+	Splice_Site	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18148975C>A	uc002gsr.1	-	28	3555	c.3504_splice	c.e28-1	p.R1168_splice	FLII_uc002gsq.1_Splice_Site_p.R1039_splice|FLII_uc010cpy.1_Splice_Site_p.R1157_splice|FLII_uc010vxn.1_Splice_Site_p.R1137_splice|FLII_uc010vxo.1_Splice_Site_p.R1113_splice	NM_002018	NP_002009			flightless I homolog						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)																	---	---	---	---
SMCR7	125170	broad.mit.edu	37	17	18167618	18167618	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18167618C>T	uc002gst.2	+	4	1116	c.905C>T	c.(904-906)GCT>GTT	p.A302V	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.A313V	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	302						integral to membrane	protein binding				0	all_neural(463;0.228)																	---	---	---	---
TBC1D28	254272	broad.mit.edu	37	17	18541927	18541927	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18541927A>G	uc002gud.2	-							NM_001039397	NP_001034486			TBC1 domain family, member 28							intracellular	Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18647733	18647733	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18647733G>T	uc002guk.2	+	1	408	c.176G>T	c.(175-177)GGC>GTC	p.G59V	FBXW10_uc002guj.2_Missense_Mutation_p.G59V|FBXW10_uc002gul.2_Missense_Mutation_p.G59V|FBXW10_uc010cqh.1_Missense_Mutation_p.G59V	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	59										ovary(1)	1																		---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19235367	19235367	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19235367C>A	uc002gvd.3	+	10	2061	c.1613C>A	c.(1612-1614)CCT>CAT	p.P538H	EPN2_uc010cql.1_Missense_Mutation_p.P247H|EPN2_uc002gve.3_Missense_Mutation_p.P481H|EPN2_uc002gvf.3_Missense_Mutation_p.P253H|EPN2_uc010vyo.1_Missense_Mutation_p.P246H|EPN2_uc010vyp.1_Missense_Mutation_p.P474H|EPN2_uc010vyq.1_Missense_Mutation_p.P475H|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Missense_Mutation_p.P201H	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	538	6 X 3 AA repeats of [DE]-P-W.|3 X 3 AA repeats of N-P-F.|1.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)																	---	---	---	---
RNF112	7732	broad.mit.edu	37	17	19319112	19319112	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19319112G>A	uc010vyw.1	+	14	1719	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	RNF112_uc010vyv.1_Missense_Mutation_p.R508H	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	507							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
POLDIP2	26073	broad.mit.edu	37	17	26678681	26678681	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26678681G>A	uc002haz.2	-						POLDIP2_uc010wag.1_Intron	NM_015584	NP_056399			DNA polymerase delta interacting protein 2							mitochondrial nucleoid|nucleus					0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)														---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26961681	26961681	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26961681G>A	uc002hbu.2	-	16	3023	c.2924C>T	c.(2923-2925)GCT>GTT	p.A975V		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	975						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)																	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27017981	27017981	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27017981G>A	uc002hby.2	+	27	3623	c.3533G>A	c.(3532-3534)CGT>CAT	p.R1178H	SUPT6H_uc010crt.2_Missense_Mutation_p.R1178H|SUPT6H_uc002hbz.1_Missense_Mutation_p.R110H	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1178					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)																	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27028023	27028023	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27028023C>T	uc002hby.2	+	36	4961	c.4871C>T	c.(4870-4872)ACG>ATG	p.T1624M	SUPT6H_uc010crt.2_Missense_Mutation_p.T1624M	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1624					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)																	---	---	---	---
FLOT2	2319	broad.mit.edu	37	17	27209007	27209007	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27209007G>A	uc002hdc.2	-	8	862	c.739C>T	c.(739-741)CGT>TGT	p.R247C		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	247					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)															---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27238239	27238239	+	Silent	SNP	G	A	A	rs143319936		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27238239G>A	uc002hdg.1	-	10	2636	c.2106C>T	c.(2104-2106)CCC>CCT	p.P702P	PHF12_uc010wbb.1_Silent_p.P684P|PHF12_uc002hdi.1_Silent_p.P698P|PHF12_uc002hdh.1_Silent_p.P485P	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	702	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)															---	---	---	---
CORO6	84940	broad.mit.edu	37	17	27946167	27946167	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27946167G>A	uc002hel.2	-	3	364	c.362C>T	c.(361-363)ACG>ATG	p.T121M	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	121					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0																		---	---	---	---
CPD	1362	broad.mit.edu	37	17	28791650	28791650	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28791650T>G	uc002hfb.1	+	21	3976	c.3961T>G	c.(3961-3963)TGC>GGC	p.C1321G	CPD_uc010wbo.1_Missense_Mutation_p.C1074G|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1321	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
ADAP2	55803	broad.mit.edu	37	17	29280306	29280306	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29280306C>T	uc002hfx.2	+	8	1021	c.742C>T	c.(742-744)CTC>TTC	p.L248F	ADAP2_uc010csk.2_Missense_Mutation_p.L254F|ADAP2_uc002hfy.2_Missense_Mutation_p.L248F|ADAP2_uc010csl.2_RNA	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein	248					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1																		---	---	---	---
ZNHIT3	9326	broad.mit.edu	37	17	34848677	34848677	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34848677C>T	uc002hms.1	+	3	210	c.139C>T	c.(139-141)CGT>TGT	p.R47C	ZNHIT3_uc010cus.1_Missense_Mutation_p.R47C|ZNHIT3_uc002hmt.1_RNA|ZNHIT3_uc010cut.1_RNA	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	thyroid hormone receptor interactor 3	47					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)														---	---	---	---
MYO19	80179	broad.mit.edu	37	17	34869254	34869254	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34869254C>T	uc010wcy.1	-						MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_Intron|MYO19_uc010wcz.1_RNA|MYO19_uc010wda.1_Silent_p.T170T|MYO19_uc002hmx.2_Silent_p.T304T	NM_001163735	NP_001157207			myosin XIX isoform 2							mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)														---	---	---	---
ACACA	31	broad.mit.edu	37	17	35487138	35487138	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35487138C>T	uc002hnm.2	-	46	5766	c.5575G>A	c.(5575-5577)GGG>AGG	p.G1859R	ACACA_uc002hnk.2_Missense_Mutation_p.G1781R|ACACA_uc002hnl.2_Missense_Mutation_p.G1801R|ACACA_uc002hnn.2_Missense_Mutation_p.G1859R|ACACA_uc002hno.2_Missense_Mutation_p.G1896R|ACACA_uc010cuy.2_Missense_Mutation_p.G504R|ACACA_uc010wdc.1_5'UTR	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1859	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37234200	37234200	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37234200G>T	uc002hrg.2	-	11	1364	c.1152C>A	c.(1150-1152)TCC>TCA	p.S384S	uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.S92S|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	384	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37922577	37922577	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37922577C>T	uc002hsu.2	-	8	1058	c.996G>A	c.(994-996)TCG>TCA	p.S332S	IKZF3_uc002htd.2_Silent_p.S298S|IKZF3_uc010cwd.2_Silent_p.S189S|IKZF3_uc002hsv.2_Silent_p.S259S|IKZF3_uc010cwe.2_Silent_p.S198S|IKZF3_uc010cwf.2_Silent_p.S150S|IKZF3_uc010cwg.2_Silent_p.S111S|IKZF3_uc002hsw.2_Silent_p.S293S|IKZF3_uc002hsx.2_Silent_p.S276S|IKZF3_uc002hsy.2_Silent_p.S293S|IKZF3_uc002hsz.2_Silent_p.S237S|IKZF3_uc002hta.2_Silent_p.S254S|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.S245S|IKZF3_uc002htc.2_Silent_p.S85S|IKZF3_uc010wel.1_Silent_p.S85S	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	332					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)															---	---	---	---
TNS4	84951	broad.mit.edu	37	17	38635981	38635981	+	Missense_Mutation	SNP	C	T	T	rs141187598	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38635981C>T	uc010cxb.2	-	10	2019	c.1855G>A	c.(1855-1857)GTG>ATG	p.V619M	TNS4_uc002huu.3_Intron	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	619	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)															---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38976553	38976553	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38976553T>G	uc002hvi.2	-	4	1016	c.990A>C	c.(988-990)GAA>GAC	p.E330D	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	330	Rod.|Gly-rich.|Coil 2.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)																---	---	---	---
KRT23	25984	broad.mit.edu	37	17	39084480	39084480	+	Intron	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39084480C>A	uc002hvm.1	-						KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Intron	NM_015515	NP_056330			keratin 23							intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)																---	---	---	---
KRTAP4-2	85291	broad.mit.edu	37	17	39334156	39334156	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39334156T>C	uc002hwd.2	-	1	305	c.261A>G	c.(259-261)AGA>AGG	p.R87R		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	87	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)															---	---	---	---
KRTAP9-4	85280	broad.mit.edu	37	17	39406326	39406326	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39406326C>T	uc002hwi.2	+	1	388	c.354C>T	c.(352-354)AAC>AAT	p.N118N	KRTAP9-9_uc010wfq.1_Intron	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	118	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)															---	---	---	---
KRT36	8689	broad.mit.edu	37	17	39643638	39643638	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39643638C>T	uc002hwt.2	-	5	952	c.952G>A	c.(952-954)GCG>ACG	p.A318T		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	318	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)																---	---	---	---
KRT13	3860	broad.mit.edu	37	17	39658827	39658827	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39658827G>A	uc002hwu.1	-	6	1106	c.1043C>T	c.(1042-1044)ACG>ATG	p.T348M	KRT13_uc002hwv.1_Missense_Mutation_p.T348M|KRT13_uc002hww.2_Missense_Mutation_p.T241M|KRT13_uc010wfr.1_Missense_Mutation_p.T241M|KRT13_uc010cxo.2_Missense_Mutation_p.T348M|KRT13_uc002hwx.1_Missense_Mutation_p.T336M	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	348	Rod.|Coil 2.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)																---	---	---	---
DHX58	79132	broad.mit.edu	37	17	40256929	40256929	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40256929C>T	uc002hyw.3	-	11	1641	c.1418G>A	c.(1417-1419)CGG>CAG	p.R473Q	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.R466Q	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	473	Helicase C-terminal.			R -> W (in Ref. 1; BAB13818).	innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)														---	---	---	---
KAT2A	2648	broad.mit.edu	37	17	40266539	40266539	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40266539C>T	uc002hyx.2	-	14	2163	c.2103G>A	c.(2101-2103)AGG>AGA	p.R701R	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	701					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)|lung(1)	2																		---	---	---	---
PLEKHH3	79990	broad.mit.edu	37	17	40825735	40825735	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40825735G>A	uc002iau.2	-	4	883	c.416C>T	c.(415-417)GCG>GTG	p.A139V	PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.A139V	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	139	PH.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)														---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40839898	40839898	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40839898G>A	uc002iay.2	+	8	1421	c.1205G>A	c.(1204-1206)CGT>CAT	p.R402H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	402	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---
AOC2	314	broad.mit.edu	37	17	40997823	40997823	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40997823C>T	uc002ibu.2	+	1	1215	c.1180C>T	c.(1180-1182)CGG>TGG	p.R394W	AOC2_uc002ibt.2_Missense_Mutation_p.R394W	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	394					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41108209	41108209	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41108209T>C	uc002icc.2	-						AARSD1_uc002icd.2_Intron|AARSD1_uc002ice.2_Intron|AARSD1_uc002icf.2_Intron|AARSD1_uc010whg.1_Intron|AARSD1_uc010cyu.1_Silent_p.E225E	NM_025267	NP_079543			alanyl-tRNA synthetase domain containing 1						alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding				0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---
IFI35	3430	broad.mit.edu	37	17	41165127	41165127	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41165127G>A	uc010whj.1	+	3	380	c.184G>A	c.(184-186)GTG>ATG	p.V62M		NM_005533	NP_005524	P80217	IN35_HUMAN	interferon-induced protein 35	62					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			ovary(1)	1		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)														---	---	---	---
DHX8	1659	broad.mit.edu	37	17	41598812	41598812	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41598812G>A	uc002idu.1	+	21	3215	c.3142G>A	c.(3142-3144)GTG>ATG	p.V1048M	DHX8_uc010wig.1_Missense_Mutation_p.V1048M	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1048						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)														---	---	---	---
GFAP	2670	broad.mit.edu	37	17	42990757	42990757	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42990757G>A	uc002ihq.2	-	4	720	c.660C>T	c.(658-660)GTC>GTT	p.V220V	GFAP_uc002ihr.2_Silent_p.V220V|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	220	Linker 12.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)																---	---	---	---
ARHGAP27	201176	broad.mit.edu	37	17	43475404	43475404	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43475404G>A	uc002iix.2	-	10	1179	c.730C>T	c.(730-732)CGA>TGA	p.R244*	ARHGAP27_uc010dak.2_Nonsense_Mutation_p.R217*|ARHGAP27_uc010wjl.1_Nonsense_Mutation_p.R363*	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	585	PH.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)																	---	---	---	---
ITGB3	3690	broad.mit.edu	37	17	45361816	45361816	+	Silent	SNP	G	A	A	rs141225656		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45361816G>A	uc002ilj.2	+	4	389	c.369G>A	c.(367-369)TCG>TCA	p.S123S	ITGB3_uc002ili.1_Silent_p.S123S|ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	123	Extracellular (Potential).				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)													---	---	---	---
LRRC46	90506	broad.mit.edu	37	17	45914298	45914298	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45914298A>G	uc002ima.2	+	8	1034	c.778A>G	c.(778-780)ACA>GCA	p.T260A	LRRC46_uc002imb.2_Missense_Mutation_p.T213A	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	260										ovary(1)	1																		---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46606967	46606967	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46606967G>A	uc002ink.1	-	2	854	c.848C>T	c.(847-849)GCC>GTC	p.A283V		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	283						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
HOXB3	3213	broad.mit.edu	37	17	46628527	46628527	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46628527G>A	uc002inn.2	-	2	865	c.465C>T	c.(463-465)GGC>GGT	p.G155G	HOXB3_uc010wlm.1_Silent_p.G82G|HOXB3_uc010dbf.2_Silent_p.G155G|HOXB3_uc010dbg.2_Silent_p.G155G|HOXB3_uc002ino.2_Silent_p.G155G|HOXB3_uc010wlk.1_Silent_p.G23G|HOXB3_uc010wll.1_Silent_p.G82G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	155	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
ATP5G1	516	broad.mit.edu	37	17	46973023	46973023	+	Silent	SNP	G	A	A	rs11549733		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46973023G>A	uc002iog.2	+	5	437	c.303G>A	c.(301-303)CCG>CCA	p.P101P	ATP5G1_uc002ioh.2_Silent_p.P101P	NM_005175	NP_005166	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	101					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding				0																		---	---	---	---
GNGT2	2793	broad.mit.edu	37	17	47284234	47284234	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47284234G>A	uc002ioo.1	-	4	402	c.95C>T	c.(94-96)GCG>GTG	p.A32V		NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	32					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)															---	---	---	---
ZNF652	22834	broad.mit.edu	37	17	47394604	47394604	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47394604C>T	uc002iov.3	-	2	948	c.484G>A	c.(484-486)GCC>ACC	p.A162T	ZNF652_uc002iow.2_Missense_Mutation_p.A162T|ZNF652_uc002iou.3_Intron	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	162	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)															---	---	---	---
ANKRD40	91369	broad.mit.edu	37	17	48777178	48777178	+	Silent	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48777178A>T	uc002iso.2	-	3	615	c.360T>A	c.(358-360)GTT>GTA	p.V120V		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	120											0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)															---	---	---	---
LPO	4025	broad.mit.edu	37	17	56343518	56343518	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56343518A>G	uc002ivt.2	+	11	1840	c.1524A>G	c.(1522-1524)GGA>GGG	p.G508G	LPO_uc010wns.1_Silent_p.G449G|LPO_uc010dcp.2_Silent_p.G425G|LPO_uc010dcq.2_Silent_p.G179G|LPO_uc010dcr.2_Silent_p.G71G	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	508					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2																		---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56389568	56389568	+	Missense_Mutation	SNP	G	A	A	rs143785694	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56389568G>A	uc002ivx.3	-	17	3485	c.2614C>T	c.(2614-2616)CGC>TGC	p.R872C	BZRAP1_uc010dcs.2_Missense_Mutation_p.R812C|BZRAP1_uc010wnt.1_Missense_Mutation_p.R872C	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	872						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57157177	57157177	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57157177G>A	uc002iwy.3	-	7	998	c.554C>T	c.(553-555)GCA>GTA	p.A185V	TRIM37_uc002iwz.3_Missense_Mutation_p.A185V|TRIM37_uc002ixa.3_Missense_Mutation_p.A63V|TRIM37_uc010woc.1_Missense_Mutation_p.A151V	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	185	Potential.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													Mulibrey_Nanism				---	---	---	---
DHX40	79665	broad.mit.edu	37	17	57679949	57679949	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57679949G>A	uc002ixn.1	+	15	2020	c.1873G>A	c.(1873-1875)GCG>ACG	p.A625T	DHX40_uc010woe.1_Missense_Mutation_p.A548T|DHX40_uc010wof.1_Missense_Mutation_p.A140T	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	625							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)																	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57759076	57759076	+	Silent	SNP	G	A	A	rs141347684		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57759076G>A	uc002ixq.1	+	21	3761	c.3318G>A	c.(3316-3318)GCG>GCA	p.A1106A	CLTC_uc002ixp.2_Silent_p.A1106A|CLTC_uc002ixr.1_Silent_p.A1110A	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1106	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							T	ALK|TFE3	ALCL|renal 								---	---	---	---
MED13	9969	broad.mit.edu	37	17	60059997	60059997	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60059997T>C	uc002izo.2	-	16	3444	c.3367A>G	c.(3367-3369)ACC>GCC	p.T1123A		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1123					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																		---	---	---	---
CCDC45	90799	broad.mit.edu	37	17	62518978	62518978	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62518978G>A	uc002jem.2	+	8	932	c.874G>A	c.(874-876)GTA>ATA	p.V292I	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.V128I	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	292						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)															---	---	---	---
SMURF2	64750	broad.mit.edu	37	17	62594494	62594494	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62594494A>G	uc002jep.1	-						SMURF2_uc002jeq.1_Intron|SMURF2_uc002jer.1_Intron	NM_022739	NP_073576			SMAD specific E3 ubiquitin protein ligase 2						BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)															---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63189717	63189717	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63189717T>G	uc002jfe.2	+	12	913	c.803T>G	c.(802-804)CTC>CGC	p.L268R	RGS9_uc010dem.2_Missense_Mutation_p.L265R|RGS9_uc002jfd.2_Missense_Mutation_p.L265R|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.L39R	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	268	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4																		---	---	---	---
CACNG1	786	broad.mit.edu	37	17	65040769	65040769	+	5'UTR	SNP	C	T	T	rs149858771	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65040769C>T	uc002jfu.2	+	1						NM_000727	NP_000718			voltage-dependent calcium channel gamma-1						muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)													---	---	---	---
KPNA2	3838	broad.mit.edu	37	17	66036862	66036862	+	Silent	SNP	C	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66036862C>G	uc002jgk.2	+	4	414	c.282C>G	c.(280-282)CTC>CTG	p.L94L	KPNA2_uc002jgl.2_Silent_p.L94L	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	94	ARM 1; truncated.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---
FAM20A	54757	broad.mit.edu	37	17	66538187	66538187	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66538187C>T	uc002jho.2	-	7	1336	c.1048G>A	c.(1048-1050)GCC>ACC	p.A350T	FAM20A_uc010wqp.1_Missense_Mutation_p.A212T|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Nonsense_Mutation_p.W52*	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	350						extracellular region					0	Breast(10;1.64e-13)																	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67031809	67031809	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67031809G>T	uc002jhu.2	-	7	1077	c.934C>A	c.(934-936)CTG>ATG	p.L312M	ABCA9_uc010dez.2_Missense_Mutation_p.L312M	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	312	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72218769	72218769	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72218769C>T	uc002jkc.2	+	2	306	c.275C>T	c.(274-276)ACG>ATG	p.T92M	TTYH2_uc010wqw.1_Missense_Mutation_p.T71M	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	92	Helical; Name=2; (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72342526	72342526	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72342526C>T	uc002jkm.3	+	8	925	c.787C>T	c.(787-789)CGT>TGT	p.R263C	KIF19_uc002jkj.2_Missense_Mutation_p.R263C|KIF19_uc002jkk.2_Missense_Mutation_p.R221C|KIF19_uc002jkl.2_Missense_Mutation_p.R221C	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	263	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0																		---	---	---	---
LLGL2	3993	broad.mit.edu	37	17	73555400	73555400	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73555400G>A	uc002joh.2	+	6	593	c.439G>A	c.(439-441)GGC>AGC	p.G147S	LLGL2_uc002jog.1_Missense_Mutation_p.G147S|LLGL2_uc010dgf.1_Missense_Mutation_p.G147S|LLGL2_uc002joi.2_Missense_Mutation_p.G147S|LLGL2_uc010dgg.1_Missense_Mutation_p.G147S|LLGL2_uc002joj.2_Missense_Mutation_p.G136S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	147	WD 3.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)															---	---	---	---
LLGL2	3993	broad.mit.edu	37	17	73569365	73569365	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73569365T>C	uc002joh.2	+						LLGL2_uc002joi.2_Intron|LLGL2_uc010dgg.1_Intron|LLGL2_uc002joj.2_Intron|LLGL2_uc010wsd.1_Intron	NM_001031803	NP_001026973			lethal giant larvae homolog 2 isoform c						cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)															---	---	---	---
GALK1	2584	broad.mit.edu	37	17	73754610	73754610	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73754610C>T	uc010wsi.1	-	6	927	c.864G>A	c.(862-864)ACG>ACA	p.T288T	GALK1_uc002jpk.2_Silent_p.T288T	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	288			T -> M (in GALCT2).		galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74004930	74004930	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74004930C>T	uc002jqi.2	-	22	4584	c.4356G>A	c.(4354-4356)CGG>CGA	p.R1452R	EVPL_uc010wss.1_Silent_p.R1474R|EVPL_uc010wst.1_Silent_p.R922R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1452	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
EXOC7	23265	broad.mit.edu	37	17	74080177	74080177	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74080177G>A	uc002jqs.2	-	19	2110	c.2015C>T	c.(2014-2016)GCC>GTC	p.A672V	EXOC7_uc002jqp.1_Missense_Mutation_p.P134S|EXOC7_uc010dgv.1_Missense_Mutation_p.A546V|EXOC7_uc002jqq.2_Missense_Mutation_p.A621V|EXOC7_uc010wsw.1_Missense_Mutation_p.A644V|EXOC7_uc010wsx.1_Missense_Mutation_p.A613V|EXOC7_uc002jqr.2_Missense_Mutation_p.A590V|EXOC7_uc010wsv.1_Missense_Mutation_p.A593V	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	672					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---
SPHK1	8877	broad.mit.edu	37	17	74382511	74382511	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74382511C>T	uc002jrf.1	+	7	1105	c.296C>T	c.(295-297)ACC>ATC	p.T99I	SPHK1_uc002jrg.1_Missense_Mutation_p.T48I|SPHK1_uc002jrh.2_Missense_Mutation_p.T113I|SPHK1_uc002jrj.2_Missense_Mutation_p.T185I|SPHK1_uc002jri.2_Missense_Mutation_p.T99I|SPHK1_uc002jrk.3_Missense_Mutation_p.T99I	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	99	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1																OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SEPT9	10801	broad.mit.edu	37	17	75478334	75478334	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:75478334G>A	uc002jts.3	+	4	956	c.830G>A	c.(829-831)GGC>GAC	p.G277D	SEPT9_uc010wtk.1_Missense_Mutation_p.G258D|SEPT9_uc002jtt.3_Missense_Mutation_p.G113D|SEPT9_uc002jtu.3_Missense_Mutation_p.G259D|SEPT9_uc002jtv.2_Missense_Mutation_p.G270D|SEPT9_uc002jtw.2_Missense_Mutation_p.G113D|SEPT9_uc002jtx.1_Missense_Mutation_p.G113D|SEPT9_uc010wtl.1_Missense_Mutation_p.G53D|SEPT9_uc002jty.3_Missense_Mutation_p.G26D|SEPT9_uc010wtm.1_Missense_Mutation_p.G26D|SEPT9_uc010wtn.1_Missense_Mutation_p.G26D|SEPT9_uc010dhd.2_Missense_Mutation_p.G165D	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	277					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)															---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76430202	76430202	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76430202C>A	uc010dhp.1	-	20	3355	c.3133G>T	c.(3133-3135)GCC>TCC	p.A1045S	DNAH17_uc002jvq.2_Missense_Mutation_p.A330S|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)															---	---	---	---
Unknown	0	broad.mit.edu	37	17	76491953	76491953	+	5'Flank	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76491953G>A	uc002jvt.1	+											Homo sapiens cDNA FLJ45552 fis, clone BRTHA2038279.																														---	---	---	---
TIMP2	7077	broad.mit.edu	37	17	76869992	76869992	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76869992G>A	uc002jwf.2	-	2	442	c.140C>T	c.(139-141)GCC>GTC	p.A47V	TIMP2_uc002jwe.2_5'UTR|TIMP2_uc010wty.1_5'UTR	NM_003255	NP_003246	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2 precursor	47	NTR.			VIRAKAV -> GKESGDP (in Ref. 10).			metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)															---	---	---	---
C1QTNF1	114897	broad.mit.edu	37	17	77043914	77043914	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77043914T>C	uc002jwp.2	+	4	930	c.590T>C	c.(589-591)CTC>CCC	p.L197P	C1QTNF1_uc002jwq.2_Missense_Mutation_p.L115P|C1QTNF1_uc002jwr.3_Missense_Mutation_p.L207P|C1QTNF1_uc002jws.2_Missense_Mutation_p.L197P|C1QTNF1_uc002jwt.2_Missense_Mutation_p.L295P	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	197	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)															---	---	---	---
CBX8	57332	broad.mit.edu	37	17	77769888	77769888	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77769888G>A	uc002jxd.1	-	4	307	c.214C>T	c.(214-216)CGT>TGT	p.R72C		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	72					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78317076	78317076	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78317076C>T	uc002jyh.1	+	2	576	c.353C>T	c.(352-354)GCG>GTG	p.A118V		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
C17orf70	80233	broad.mit.edu	37	17	79514156	79514156	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79514156T>C	uc002kaq.2	-	5	2007	c.1952A>G	c.(1951-1953)CAG>CGG	p.Q651R	C17orf70_uc002kao.1_Missense_Mutation_p.Q300R|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.Q500R	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	651					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)															---	---	---	---
SLC16A3	9123	broad.mit.edu	37	17	80195343	80195343	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80195343G>A	uc002kea.2	+	4	836	c.697G>A	c.(697-699)GTG>ATG	p.V233M	SLC16A3_uc002kee.2_Missense_Mutation_p.V233M|SLC16A3_uc002keb.2_Missense_Mutation_p.V233M|SLC16A3_uc002kec.2_Missense_Mutation_p.V233M|SLC16A3_uc002ked.2_Missense_Mutation_p.V233M	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	233	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)													---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80884364	80884364	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80884364C>T	uc002kfz.2	+	28	2598	c.2468C>T	c.(2467-2469)GCG>GTG	p.A823V	TBCD_uc002kfy.1_Missense_Mutation_p.A823V|TBCD_uc002kgb.1_Missense_Mutation_p.A148V|TBCD_uc002kgc.2_5'Flank|TBCD_uc002kgd.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	823					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)															---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	347267	347267	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:347267G>A	uc002kkm.2	-	5	570	c.355C>T	c.(355-357)CGT>TGT	p.R119C		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	119	Potential.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)																---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879906	3879906	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3879906C>A	uc002kmf.2	-	1	230	c.163G>T	c.(163-165)GCT>TCT	p.A55S	DLGAP1_uc010wyz.1_Missense_Mutation_p.A55S|DLGAP1_uc002kmk.2_Missense_Mutation_p.A55S|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	55					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)																---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5397065	5397065	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5397065G>A	uc002kmt.1	-	18	2919	c.2833C>T	c.(2833-2835)CAT>TAT	p.H945Y	EPB41L3_uc010wzh.1_Missense_Mutation_p.H776Y|EPB41L3_uc002kmu.1_Missense_Mutation_p.H723Y|EPB41L3_uc010dkq.1_Missense_Mutation_p.H614Y|EPB41L3_uc002kms.1_Missense_Mutation_p.H180Y|EPB41L3_uc010wze.1_Missense_Mutation_p.H250Y|EPB41L3_uc010wzf.1_Missense_Mutation_p.H242Y|EPB41L3_uc010wzg.1_Missense_Mutation_p.H217Y|EPB41L3_uc010dkr.2_Missense_Mutation_p.H337Y	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	945	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7012148	7012148	+	Intron	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7012148G>T	uc002knm.2	-						LAMA1_uc010wzj.1_Intron	NM_005559	NP_005550			laminin, alpha 1 precursor						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7023155	7023155	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7023155G>A	uc002knm.2	-						LAMA1_uc010wzj.1_Intron	NM_005559	NP_005550			laminin, alpha 1 precursor						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7044752	7044752	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7044752C>T	uc002knm.2	-	7	1039	c.945G>A	c.(943-945)CCG>CCA	p.P315P	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	315	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
RAB12	201475	broad.mit.edu	37	18	8636338	8636338	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8636338G>A	uc002knp.2	+	5	887	c.604G>A	c.(604-606)GAT>AAT	p.D202N		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	202					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0																		---	---	---	---
MPPE1	65258	broad.mit.edu	37	18	11886627	11886627	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:11886627G>A	uc002kqf.2	-						MPPE1_uc002kqn.2_Intron|MPPE1_uc002kqg.2_Intron|MPPE1_uc002kqh.2_Intron|MPPE1_uc002kqi.2_Intron|MPPE1_uc002kqj.2_Intron|MPPE1_uc002kqk.2_Intron|MPPE1_uc002kql.2_Intron|MPPE1_uc002kqm.2_Intron|MPPE1_uc010dla.1_Intron	NM_023075	NP_075563			metallophosphoesterase 1 precursor						ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity				0																		---	---	---	---
CTAGE1	64693	broad.mit.edu	37	18	19996086	19996086	+	Silent	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19996086G>T	uc002ktv.1	-	1	1793	c.1689C>A	c.(1687-1689)CCC>CCA	p.P563P		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	563						integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)																	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21891961	21891961	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21891961T>C	uc002kve.2	-	13	1253	c.1079A>G	c.(1078-1080)AAG>AGG	p.K360R	OSBPL1A_uc010xbc.1_5'Flank|OSBPL1A_uc002kvf.3_Missense_Mutation_p.K140R	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	360					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)																	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28991227	28991227	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28991227C>T	uc002kwq.2	+	15	2306	c.2171C>T	c.(2170-2172)ACG>ATG	p.T724M	DSG4_uc002kwr.2_Missense_Mutation_p.T743M	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	724	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)															---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34340669	34340669	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34340669G>A	uc002kzt.1	+	22	4045	c.3948G>A	c.(3946-3948)GTG>GTA	p.V1316V	FHOD3_uc002kzs.1_Silent_p.V1333V|FHOD3_uc010dmz.1_Silent_p.V1048V|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1316					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)																---	---	---	---
KIAA1328	57536	broad.mit.edu	37	18	34465570	34465570	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34465570A>G	uc002kzz.2	+	5	405	c.383A>G	c.(382-384)GAG>GGG	p.E128G		NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	128	Potential.									central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)														---	---	---	---
CELF4	56853	broad.mit.edu	37	18	34850756	34850756	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34850756G>A	uc002lae.2	-	8	1470	c.1074C>T	c.(1072-1074)TTC>TTT	p.F358F	CELF4_uc010dnd.1_Silent_p.F356F|CELF4_uc002lag.2_Silent_p.F348F|CELF4_uc002laf.2_Silent_p.F353F|CELF4_uc002lai.2_Silent_p.F343F|CELF4_uc002lah.1_Silent_p.F83F	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	358					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2																		---	---	---	---
ST8SIA5	29906	broad.mit.edu	37	18	44260327	44260327	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44260327G>A	uc002lcj.1	-	7	1377	c.809C>T	c.(808-810)TCG>TTG	p.S270L	ST8SIA5_uc002lci.1_Missense_Mutation_p.S117L|ST8SIA5_uc010xcy.1_Missense_Mutation_p.S306L|ST8SIA5_uc010xcz.1_Missense_Mutation_p.S239L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	270	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3																		---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45566726	45566726	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45566726G>A	uc002lda.2	-	1	769	c.753C>T	c.(751-753)TTC>TTT	p.F251F	ZBTB7C_uc002ldb.2_Silent_p.F251F|ZBTB7C_uc010dnu.2_Silent_p.F260F|ZBTB7C_uc010dnv.2_Silent_p.F273F|ZBTB7C_uc010dnw.2_Silent_p.F251F|ZBTB7C_uc010dnx.1_Silent_p.F251F|ZBTB7C_uc010dny.1_Silent_p.F251F|ZBTB7C_uc010dnz.1_Silent_p.F273F|ZBTB7C_uc010dob.1_Silent_p.F251F|ZBTB7C_uc010doc.1_Silent_p.F260F|ZBTB7C_uc010dod.1_Silent_p.F273F|ZBTB7C_uc010doe.1_Silent_p.F251F|ZBTB7C_uc010dof.1_Silent_p.F251F|ZBTB7C_uc010dog.1_Silent_p.F251F|ZBTB7C_uc010doh.1_Silent_p.F260F|ZBTB7C_uc010doi.1_Silent_p.F251F|ZBTB7C_uc010doj.1_Silent_p.F260F|ZBTB7C_uc010dok.1_Silent_p.F300F|ZBTB7C_uc010dol.1_Silent_p.F260F|ZBTB7C_uc010doa.1_Silent_p.F273F|ZBTB7C_uc010don.1_Silent_p.F259F|ZBTB7C_uc010doo.1_Silent_p.F251F|ZBTB7C_uc010dop.1_Silent_p.F251F|ZBTB7C_uc010doq.1_Silent_p.F260F|ZBTB7C_uc010dor.1_Silent_p.F273F|ZBTB7C_uc010dos.1_Silent_p.F251F|ZBTB7C_uc010dot.1_Silent_p.F251F|ZBTB7C_uc010dou.1_Silent_p.F260F|ZBTB7C_uc010dom.1_Silent_p.F260F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	251						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54603098	54603098	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54603098G>A	uc002lgk.1	+	23	4004	c.3793G>A	c.(3793-3795)GCC>ACC	p.A1265T	WDR7_uc002lgl.1_Missense_Mutation_p.A1232T	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1265										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)														---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56586342	56586342	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56586342G>A	uc002lho.2	+	4	1370	c.823G>A	c.(823-825)GCG>ACG	p.A275T	ZNF532_uc002lhp.2_Missense_Mutation_p.A273T|ZNF532_uc010xeg.1_Missense_Mutation_p.A273T|ZNF532_uc002lhr.2_Missense_Mutation_p.A273T|ZNF532_uc002lhs.2_Missense_Mutation_p.A273T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
ZNF532	55205	broad.mit.edu	37	18	56646392	56646392	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56646392G>A	uc002lho.2	+	9	3803	c.3256G>A	c.(3256-3258)GCC>ACC	p.A1086T	ZNF532_uc002lhp.2_Missense_Mutation_p.A1084T|ZNF532_uc010xeg.1_Missense_Mutation_p.A1084T|ZNF532_uc002lhr.2_Missense_Mutation_p.A1084T|ZNF532_uc002lhs.2_Missense_Mutation_p.A1084T|ZNF532_uc010xeh.1_Intron	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1086	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
CPLX4	339302	broad.mit.edu	37	18	56979989	56979989	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56979989A>G	uc002lhy.2	-	2	370	c.183T>C	c.(181-183)GCT>GCC	p.A61A		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	complexin 4 precursor	61					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			ovary(1)	1		Colorectal(73;0.175)																---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57020530	57020530	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57020530G>A	uc002lhz.2	-	5	575	c.543C>T	c.(541-543)GAC>GAT	p.D181D	LMAN1_uc010xek.1_Silent_p.D181D	NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	181	Lumenal (Potential).|L-type lectin-like.	Calcium.			blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)													---	---	---	---
KIAA1468	57614	broad.mit.edu	37	18	59895676	59895676	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59895676A>G	uc002lil.2	+	8	1508	c.1293A>G	c.(1291-1293)GGA>GGG	p.G431G	KIAA1468_uc002lik.1_Silent_p.G431G|KIAA1468_uc010xel.1_Silent_p.G431G|KIAA1468_uc002lim.2_Silent_p.G75G	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	431							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)																---	---	---	---
SERPINB4	6318	broad.mit.edu	37	18	61326636	61326636	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61326636T>C	uc002ljg.2	-	3	374	c.348A>G	c.(346-348)TTA>TTG	p.L116L	SERPINB3_uc002lji.2_Silent_p.L116L|SERPINB3_uc010dqa.2_Silent_p.L116L|SERPINB3_uc010dqb.2_Silent_p.L116L			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	116					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3																		---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67836303	67836303	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67836303C>A	uc002lkp.2	-	12	1545	c.1477G>T	c.(1477-1479)GCA>TCA	p.A493S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Intron|RTTN_uc002lkq.1_Missense_Mutation_p.A493S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	493							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
C18orf55	29090	broad.mit.edu	37	18	71822600	71822600	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71822600T>C	uc010dqr.1	+	3	722	c.424T>C	c.(424-426)TAT>CAT	p.Y142H		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	142					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72999246	72999246	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72999246G>A	uc002lly.2	+	2	2312	c.1749G>A	c.(1747-1749)ACG>ACA	p.T583T		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	628						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)														---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77211059	77211059	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77211059C>T	uc010xfg.1	+	5	2148	c.1695C>T	c.(1693-1695)CGC>CGT	p.R565R	NFATC1_uc002lnc.1_Silent_p.R565R|NFATC1_uc010xff.1_Intron|NFATC1_uc002lnd.2_Silent_p.R565R|NFATC1_uc002lne.2_Silent_p.R93R|NFATC1_uc010xfh.1_Silent_p.R565R|NFATC1_uc010xfi.1_Silent_p.R552R|NFATC1_uc010xfj.1_Silent_p.R93R|NFATC1_uc002lnf.2_Silent_p.R552R|NFATC1_uc002lng.2_Silent_p.R552R|NFATC1_uc010xfk.1_Silent_p.R552R	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	565	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)														---	---	---	---
POLRMT	5442	broad.mit.edu	37	19	621725	621725	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:621725G>A	uc002lpf.1	-	10	2029	c.1973C>T	c.(1972-1974)CCG>CTG	p.P658L		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	658					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
C19orf21	126353	broad.mit.edu	37	19	758615	758615	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:758615C>T	uc002lpo.2	+	2	1752	c.1669C>T	c.(1669-1671)CGG>TGG	p.R557W		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	557	Potential.									upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)														---	---	---	---
LPPR3	79948	broad.mit.edu	37	19	815844	815844	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:815844A>G	uc002lpx.1	-	3	147	c.83T>C	c.(82-84)ATA>ACA	p.I28T	LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Missense_Mutation_p.I28T|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	28	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity				0																		---	---	---	---
MED16	10025	broad.mit.edu	37	19	877065	877065	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:877065T>G	uc002lqd.1	-	9	1620	c.1469A>C	c.(1468-1470)GAC>GCC	p.D490A	MED16_uc010drw.1_Missense_Mutation_p.D315A|MED16_uc002lqe.2_Missense_Mutation_p.D479A|MED16_uc002lqf.2_Missense_Mutation_p.D479A|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Missense_Mutation_p.D335A|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	490					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)														---	---	---	---
HMHA1	23526	broad.mit.edu	37	19	1085856	1085856	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1085856G>A	uc002lqz.1	+	23	3493	c.3262G>A	c.(3262-3264)GGG>AGG	p.G1088R	HMHA1_uc010xgd.1_Missense_Mutation_p.G1104R|HMHA1_uc010xge.1_Missense_Mutation_p.G956R|HMHA1_uc002lra.1_Missense_Mutation_p.G928R|HMHA1_uc002lrb.1_Missense_Mutation_p.G971R|HMHA1_uc002lrc.1_Missense_Mutation_p.G723R|HMHA1_uc002lrd.1_Missense_Mutation_p.G164R|HMHA1_uc010dsd.1_Missense_Mutation_p.G194R	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	1088					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)														---	---	---	---
DAZAP1	26528	broad.mit.edu	37	19	1428934	1428934	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1428934G>A	uc002lsn.2	+	8	829	c.640G>A	c.(640-642)GCT>ACT	p.A214T	DAZAP1_uc002lsm.2_Missense_Mutation_p.A214T|DAZAP1_uc002lso.2_Missense_Mutation_p.A213T|DAZAP1_uc002lsl.1_Missense_Mutation_p.A214T	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	214					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)														---	---	---	---
APC2	10297	broad.mit.edu	37	19	1466376	1466376	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1466376C>T	uc002lsr.1	+	15	3284	c.3076C>T	c.(3076-3078)CGG>TGG	p.R1026W	APC2_uc002lss.1_Missense_Mutation_p.R608W|APC2_uc002lst.1_Missense_Mutation_p.R1026W|APC2_uc002lsu.1_Missense_Mutation_p.R1025W|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1026					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)														---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1825905	1825905	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1825905G>A	uc002lua.3	-	3	2044	c.1949C>T	c.(1948-1950)TCG>TTG	p.S650L		NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	650						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)														---	---	---	---
ZNF57	126295	broad.mit.edu	37	19	2917163	2917163	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2917163C>T	uc002lwr.2	+	4	692	c.544C>T	c.(544-546)CAC>TAC	p.H182Y	ZNF57_uc010xha.1_Missense_Mutation_p.H150Y	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
TLE6	79816	broad.mit.edu	37	19	2987969	2987969	+	Silent	SNP	C	T	T	rs141862660	byFrequency;by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2987969C>T	uc002lwu.2	+	9	730	c.330C>T	c.(328-330)GTC>GTT	p.V110V	TLE6_uc002lwt.2_Silent_p.V233V|TLE6_uc010dtg.2_Silent_p.V233V|TLE6_uc002lwv.2_5'UTR	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	110					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				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)														---	---	---	---
GNA11	2767	broad.mit.edu	37	19	3119270	3119270	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3119270T>G	uc002lxd.2	+	6	1044	c.802T>G	c.(802-804)TCC>GCC	p.S268A	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	268					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)				Mis		uveal melanoma								---	---	---	---
TBXA2R	6915	broad.mit.edu	37	19	3600476	3600476	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3600476G>A	uc002lyg.1	-	2	371	c.157C>T	c.(157-159)CGG>TGG	p.R53W	TBXA2R_uc002lye.1_Missense_Mutation_p.R53W	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	53	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)													---	---	---	---
APBA3	9546	broad.mit.edu	37	19	3760158	3760158	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3760158G>A	uc002lyp.1	-	2	282	c.105C>T	c.(103-105)AGC>AGT	p.S35S	MRPL54_uc002lyq.3_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding,	35					intracellular signal transduction|protein transport	intracellular|membrane	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4512549	4512549	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4512549C>T	uc002mar.1	-	3	1381	c.1381G>A	c.(1381-1383)GGT>AGT	p.G461S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	461	27 X 33 AA approximate tandem repeat.|12.					lipid particle|plasma membrane					0																		---	---	---	---
PLIN5	440503	broad.mit.edu	37	19	4523795	4523795	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4523795C>T	uc002mas.2	-	8	1190	c.1137G>A	c.(1135-1137)GCG>GCA	p.A379A		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	379						lipid particle					0																		---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5212474	5212474	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5212474C>A	uc002mbv.2	-	31	4877	c.4643G>T	c.(4642-4644)CGC>CTC	p.R1548L	PTPRS_uc002mbu.1_Missense_Mutation_p.R1117L|PTPRS_uc010xin.1_Missense_Mutation_p.R1090L|PTPRS_uc002mbw.2_Missense_Mutation_p.R1510L|PTPRS_uc002mbx.2_Missense_Mutation_p.R1105L|PTPRS_uc002mby.2_Missense_Mutation_p.R1101L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1548	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5244133	5244133	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5244133G>A	uc002mbv.2	-	11	1583	c.1349C>T	c.(1348-1350)CCG>CTG	p.P450L	PTPRS_uc002mbu.1_Missense_Mutation_p.P437L|PTPRS_uc010xin.1_Missense_Mutation_p.P437L|PTPRS_uc002mbw.2_Missense_Mutation_p.P437L|PTPRS_uc002mbx.2_Missense_Mutation_p.P441L|PTPRS_uc002mby.2_Missense_Mutation_p.P437L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	450	Extracellular (Potential).|Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5592763	5592763	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5592763G>A	uc002mcd.2	-	16	2555	c.2343C>T	c.(2341-2343)ATC>ATT	p.I781I		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	781	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)														---	---	---	---
RFX2	5990	broad.mit.edu	37	19	6002852	6002852	+	Silent	SNP	C	T	T	rs144909436		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6002852C>T	uc002meb.2	-	14	1799	c.1530G>A	c.(1528-1530)ACG>ACA	p.T510T	RFX2_uc002mec.2_Silent_p.T485T	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6																		---	---	---	---
RFX2	5990	broad.mit.edu	37	19	6016119	6016119	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6016119G>A	uc002meb.2	-	7	1030	c.761C>T	c.(760-762)ACG>ATG	p.T254M	RFX2_uc002mec.2_Missense_Mutation_p.T229M	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	254	RFX-type winged-helix.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6																		---	---	---	---
DENND1C	79958	broad.mit.edu	37	19	6470356	6470356	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6470356G>A	uc002mfe.2	-	18	1404	c.1312C>T	c.(1312-1314)CAC>TAC	p.H438Y	DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.H394Y	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	438						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1																		---	---	---	---
TRIP10	9322	broad.mit.edu	37	19	6743586	6743586	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6743586G>A	uc002mfs.2	+	6	556	c.490G>A	c.(490-492)GCC>ACC	p.A164T	TRIP10_uc010dux.1_Missense_Mutation_p.A164T|TRIP10_uc002mfr.2_Missense_Mutation_p.A164T|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_5'UTR	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	164	Potential.|Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1																		---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6752655	6752655	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6752655C>T	uc002mft.2	-	10	1874	c.1680G>A	c.(1678-1680)AAG>AAA	p.K560K	SH2D3A_uc010xjg.1_Silent_p.K467K	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	560					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2																		---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6773033	6773033	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6773033C>T	uc002mfu.1	+						VAV1_uc010xjh.1_Intron|VAV1_uc010dva.1_Intron	NM_005428	NP_005419			vav 1 guanine nucleotide exchange factor						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16																		---	---	---	---
C19orf45	374877	broad.mit.edu	37	19	7573246	7573246	+	Missense_Mutation	SNP	G	A	A	rs147092817		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7573246G>A	uc002mgm.2	+	9	1589	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	483											0																		---	---	---	---
XAB2	56949	broad.mit.edu	37	19	7687494	7687494	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7687494G>A	uc002mgx.2	-	11	1451	c.1425C>T	c.(1423-1425)CCC>CCT	p.P475P		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	475					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4													Direct_reversal_of_damage|NER					---	---	---	---
CD209	30835	broad.mit.edu	37	19	7808130	7808130	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7808130C>T	uc002mht.2	-						CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Intron|CD209_uc002mhr.2_Intron|CD209_uc002mhs.2_Intron|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Intron|CD209_uc002mhq.2_Intron|CD209_uc002mhv.2_Intron|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978			CD209 molecule isoform 1						cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1																		---	---	---	---
CTXN1	404217	broad.mit.edu	37	19	7990265	7990265	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7990265C>T	uc002miy.3	-	2	379	c.159G>A	c.(157-159)CTG>CTA	p.L53L		NM_206833	NP_996664	P60606	CTXN1_HUMAN	cortexin 1	53						integral to membrane				ovary(1)	1																		---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8651120	8651120	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8651120G>A	uc002mkj.1	-	22	2820	c.2546C>T	c.(2545-2547)GCG>GTG	p.A849V	ADAMTS10_uc002mki.1_Missense_Mutation_p.A336V|ADAMTS10_uc002mkk.1_Missense_Mutation_p.A481V	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	849	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4																OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072974	9072974	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9072974C>T	uc002mkp.2	-	3	14676	c.14472G>A	c.(14470-14472)ACG>ACA	p.T4824T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4826	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																		---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9764462	9764462	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9764462A>G	uc010xks.1	-	6	607	c.444T>C	c.(442-444)AAT>AAC	p.N148N	ZNF562_uc002mly.2_Silent_p.N148N|ZNF562_uc002mlx.2_Silent_p.N76N|ZNF562_uc010xkt.1_Silent_p.N111N|ZNF562_uc010xku.1_Silent_p.N79N|ZNF562_uc010xkv.1_Silent_p.N147N|ZNF562_uc010xkw.1_Silent_p.N32N	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ICAM5	7087	broad.mit.edu	37	19	10404792	10404792	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10404792T>C	uc002mnu.3	+	8	1853	c.1788T>C	c.(1786-1788)TGT>TGC	p.C596C	ICAM5_uc002mnv.3_Silent_p.C471C	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	596	Extracellular (Potential).|Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)															---	---	---	---
PDE4A	5141	broad.mit.edu	37	19	10570296	10570296	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10570296G>A	uc002moj.2	+	10	1334	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	PDE4A_uc002mok.2_Missense_Mutation_p.R383H|PDE4A_uc002mol.2_Missense_Mutation_p.R348H|PDE4A_uc002mom.2_Missense_Mutation_p.R170H|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_Missense_Mutation_p.R75H	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	409	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)													---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10908090	10908090	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10908090G>T	uc002mps.1	+	10	1395	c.1231G>T	c.(1231-1233)GCC>TCC	p.A411S	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Missense_Mutation_p.A411S|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Missense_Mutation_p.A144S	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	411					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)															---	---	---	---
LDLR	3949	broad.mit.edu	37	19	11213416	11213416	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11213416C>T	uc002mqk.3	+	3	435	c.267C>T	c.(265-267)TGC>TGT	p.C89C	LDLR_uc010xlk.1_Silent_p.C89C|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Silent_p.C89C|LDLR_uc010xlo.1_Silent_p.C89C	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	89	Extracellular (Potential).|LDL-receptor class A 2.		C -> Y (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)													---	---	---	---
RAB3D	9545	broad.mit.edu	37	19	11446182	11446182	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11446182T>G	uc002mqy.2	-	4	651	c.413A>C	c.(412-414)GAC>GCC	p.D138A		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	138	GTP.				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2																		---	---	---	---
PRKCSH	5589	broad.mit.edu	37	19	11559934	11559934	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11559934G>A	uc002mrt.2	+	16	1720	c.1384G>A	c.(1384-1386)GCC>ACC	p.A462T	PRKCSH_uc002mru.2_Missense_Mutation_p.A459T|PRKCSH_uc010xlz.1_Missense_Mutation_p.A469T|PRKCSH_uc010dya.2_Missense_Mutation_p.A244T|PRKCSH_uc010dyb.2_Missense_Mutation_p.A459T	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	462	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0																		---	---	---	---
ZNF625	90589	broad.mit.edu	37	19	12256589	12256589	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12256589A>G	uc002mth.2	-	4	794	c.444T>C	c.(442-444)ACT>ACC	p.T148T	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.T182T	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF799	90576	broad.mit.edu	37	19	12501871	12501871	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12501871T>G	uc010dyt.2	-	4	1491	c.1341A>C	c.(1339-1341)AAA>AAC	p.K447N	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6																		---	---	---	---
ZNF791	163049	broad.mit.edu	37	19	12739381	12739381	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12739381C>T	uc002mua.2	+	4	1200	c.1038C>T	c.(1036-1038)CAC>CAT	p.H346H	ZNF791_uc010xml.1_Silent_p.H314H|ZNF791_uc010dyu.1_Silent_p.H237H|ZNF791_uc010xmm.1_Silent_p.H237H	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	346	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12766586	12766586	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12766586A>G	uc002mub.2	-	14	1828	c.1752T>C	c.(1750-1752)CCT>CCC	p.P584P	MAN2B1_uc010dyv.1_Silent_p.P583P	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	584					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
DHPS	1725	broad.mit.edu	37	19	12791075	12791075	+	Missense_Mutation	SNP	C	T	T	rs145815031		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12791075C>T	uc002muh.1	-	2	369	c.272G>A	c.(271-273)CGC>CAC	p.R91H	DHPS_uc002muf.1_5'UTR|DHPS_uc002mug.1_Missense_Mutation_p.R49H|DHPS_uc002mui.1_Missense_Mutation_p.R91H|DHPS_uc002muj.1_Missense_Mutation_p.R91H|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	91					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)													---	---	---	---
FBXW9	84261	broad.mit.edu	37	19	12800036	12800036	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12800036C>T	uc010dyx.2	-	10	1431	c.1431G>A	c.(1429-1431)CAG>CAA	p.Q477Q	FBXW9_uc010xmp.1_RNA|uc002mul.1_Silent_p.A98A|FBXW9_uc002mum.1_Silent_p.Q457Q|FBXW9_uc002mun.1_Silent_p.Q294Q	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	487	WD 7.						protein binding			ovary(1)	1																		---	---	---	---
NFIX	4784	broad.mit.edu	37	19	13184812	13184812	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13184812C>T	uc010xmx.1	+	5	867	c.814C>T	c.(814-816)CGG>TGG	p.R272W	NFIX_uc002mwd.2_Missense_Mutation_p.R264W|NFIX_uc002mwe.2_Missense_Mutation_p.R256W|NFIX_uc002mwf.2_Missense_Mutation_p.R267W|NFIX_uc002mwg.1_Missense_Mutation_p.R263W			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	264					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)															---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13323306	13323306	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13323306G>A	uc010dze.2	-	42	6320	c.6084C>T	c.(6082-6084)AGC>AGT	p.S2028S	CACNA1A_uc010xnd.1_Silent_p.S733S|CACNA1A_uc002mwx.3_Silent_p.S733S|CACNA1A_uc010dzc.2_Silent_p.S1553S|CACNA1A_uc002mwy.3_Silent_p.S2027S|CACNA1A_uc002mwv.3_Silent_p.S544S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	2028	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13414687	13414687	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13414687G>A	uc010dze.2	-	16	2237	c.2001C>T	c.(1999-2001)GGC>GGT	p.G667G	CACNA1A_uc010dzc.2_Silent_p.G192G|CACNA1A_uc002mwy.3_Silent_p.G666G|CACNA1A_uc010xne.1_Silent_p.G192G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	667	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13470495	13470495	+	Silent	SNP	G	A	A	rs17846910		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13470495G>A	uc010dze.2	-	6	1139	c.903C>T	c.(901-903)TTC>TTT	p.F301F	CACNA1A_uc002mwy.3_Silent_p.F301F	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	301	I.|Extracellular (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
ZSWIM4	65249	broad.mit.edu	37	19	13939479	13939479	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13939479C>T	uc002mxh.1	+	12	2238	c.2049C>T	c.(2047-2049)AAC>AAT	p.N683N	ZSWIM4_uc010xng.1_Silent_p.N606N	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	683							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)															---	---	---	---
C19orf57	79173	broad.mit.edu	37	19	14000060	14000060	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14000060G>A	uc002mxl.1	-	6	1668	c.1609C>T	c.(1609-1611)CTG>TTG	p.L537L	C19orf57_uc002mxk.1_Silent_p.L419L|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	537					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)															---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14288438	14288438	+	Silent	SNP	G	A	A	rs148289324		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14288438G>A	uc010xnn.1	-	3	485	c.189C>T	c.(187-189)TAC>TAT	p.Y63Y	LPHN1_uc010xno.1_Silent_p.Y63Y	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	63	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14772911	14772911	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14772911T>C	uc002mzi.3	-	4	367	c.219A>G	c.(217-219)CCA>CCG	p.P73P	EMR3_uc010dzp.2_Intron|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	73	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6																		---	---	---	---
OR7A17	26333	broad.mit.edu	37	19	14991937	14991937	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14991937T>C	uc010xob.1	-	1	231	c.231A>G	c.(229-231)ACA>ACG	p.T77T		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	77	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)																	---	---	---	---
AKAP8	10270	broad.mit.edu	37	19	15483787	15483787	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15483787A>G	uc002nav.2	-	5	797	c.736T>C	c.(736-738)TCC>CCC	p.S246P	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.S60P	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	246					signal transduction	nuclear matrix				ovary(1)|breast(1)	2																		---	---	---	---
OR10H5	284433	broad.mit.edu	37	19	15905420	15905420	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15905420G>T	uc010xos.1	+	1	562	c.562G>T	c.(562-564)GCC>TCC	p.A188S		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
CYP4F11	57834	broad.mit.edu	37	19	16034738	16034738	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16034738C>T	uc002nbu.2	-	7	838	c.802G>A	c.(802-804)GAT>AAT	p.D268N	CYP4F11_uc010eab.1_Missense_Mutation_p.D268N|CYP4F11_uc002nbt.2_Missense_Mutation_p.D268N	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	268					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1																		---	---	---	---
TMEM38A	79041	broad.mit.edu	37	19	16791256	16791256	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16791256C>T	uc002nes.2	+	3	421	c.330C>T	c.(328-330)TGC>TGT	p.C110C		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	110	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17014586	17014586	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17014586C>T	uc002nfb.2	-	33	4506	c.4474G>A	c.(4474-4476)GCC>ACC	p.A1492T	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1445						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17040056	17040056	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17040056T>C	uc002nfb.2	-							NM_015692	NP_056507			C3 and PZP-like, alpha-2-macroglobulin domain							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17108023	17108023	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17108023G>A	uc002nfb.2	-	11	1166	c.1134C>T	c.(1132-1134)GTC>GTT	p.V378V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	331						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
USE1	55850	broad.mit.edu	37	19	17327091	17327091	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17327091G>A	uc002nfo.2	+	4	405	c.345G>A	c.(343-345)GCG>GCA	p.A115A	USE1_uc002nfn.2_Silent_p.A115A|USE1_uc010eal.1_Silent_p.A115A	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog	115	Cytoplasmic (Potential).				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding				0																		---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17476377	17476377	+	Silent	SNP	G	A	A	rs147035073	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17476377G>A	uc002ngk.1	-	3	947	c.897C>T	c.(895-897)CGC>CGT	p.R299R		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	299	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0																		---	---	---	---
IL12RB1	3594	broad.mit.edu	37	19	18177481	18177481	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18177481C>T	uc002nhw.1	-	12	1418	c.1354G>A	c.(1354-1356)GTC>ATC	p.V452I	IL12RB1_uc010xqb.1_Missense_Mutation_p.V452I|IL12RB1_uc002nhx.1_Missense_Mutation_p.V492I	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	452	Extracellular (Potential).|Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1																		---	---	---	---
IL12RB1	3594	broad.mit.edu	37	19	18183096	18183096	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18183096G>A	uc002nhw.1	-	9	911	c.847C>T	c.(847-849)CGA>TGA	p.R283*	IL12RB1_uc010xqb.1_Nonsense_Mutation_p.R283*|IL12RB1_uc002nhx.1_Nonsense_Mutation_p.R323*|IL12RB1_uc002nhy.2_Nonsense_Mutation_p.R283*	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	283	Extracellular (Potential).|Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1																		---	---	---	---
RAB3A	5864	broad.mit.edu	37	19	18313398	18313398	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18313398G>A	uc002nie.2	-	2	322	c.153C>T	c.(151-153)TTC>TTT	p.F51F		NM_002866	NP_002857	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	51	Effector region (By similarity).				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity				0																OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ISYNA1	51477	broad.mit.edu	37	19	18547134	18547134	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18547134G>A	uc002njd.1	-						ISYNA1_uc002nja.1_Intron|ISYNA1_uc002njb.1_Intron|ISYNA1_uc002njc.1_Intron|ISYNA1_uc010xqh.1_Intron|ISYNA1_uc002nje.1_Intron|ISYNA1_uc002njf.1_Intron	NM_016368	NP_057452			inositol-3-phosphate synthase 1						inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2																		---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18966799	18966799	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18966799C>T	uc002nkg.2	+	12	1918	c.1643C>T	c.(1642-1644)ACG>ATG	p.T548M	UPF1_uc002nkf.2_Missense_Mutation_p.T537M	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	548					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
SFRS14	10147	broad.mit.edu	37	19	19136833	19136833	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19136833G>A	uc002nkx.2	-	3	470	c.324C>T	c.(322-324)GGC>GGT	p.G108G	SFRS14_uc002nkz.1_Silent_p.G122G|SFRS14_uc002nla.1_Silent_p.G108G|SFRS14_uc002nlb.2_Silent_p.G108G|SFRS14_uc010xqk.1_Missense_Mutation_p.A10V	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	108					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)															---	---	---	---
SLC25A42	284439	broad.mit.edu	37	19	19217167	19217167	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19217167C>T	uc002nlf.1	+	6	621	c.470C>T	c.(469-471)GCG>GTG	p.A157V	SLC25A42_uc010xqn.1_Missense_Mutation_p.A209V	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	157	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)															---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19329854	19329854	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19329854C>T	uc002nlz.2	+	3	303	c.204C>T	c.(202-204)AGC>AGT	p.S68S		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	68	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)															---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19351447	19351447	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19351447G>A	uc002nlz.2	+	12	3544	c.3445G>A	c.(3445-3447)GAC>AAC	p.D1149N	NCAN_uc002nma.2_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1149	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)															---	---	---	---
GATAD2A	54815	broad.mit.edu	37	19	19576260	19576260	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19576260T>C	uc010xqt.1	+	2	418	c.106T>C	c.(106-108)TTG>CTG	p.L36L	GATAD2A_uc010xqu.1_5'UTR|GATAD2A_uc010xqv.1_Silent_p.L55L|GATAD2A_uc010xqw.1_5'UTR	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	36					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
GATAD2A	54815	broad.mit.edu	37	19	19613299	19613299	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19613299G>A	uc010xqt.1	+	11	2047	c.1735G>A	c.(1735-1737)GCC>ACC	p.A579T	GATAD2A_uc010xqu.1_Missense_Mutation_p.A208T|GATAD2A_uc010xqv.1_Missense_Mutation_p.A599T|GATAD2A_uc010xqw.1_Missense_Mutation_p.A382T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	579					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF714	148206	broad.mit.edu	37	19	21300337	21300337	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21300337T>C	uc002npo.3	+	6	1230	c.870T>C	c.(868-870)TGT>TGC	p.C290C	ZNF714_uc002npl.2_Silent_p.C135C|ZNF714_uc010ecp.1_Silent_p.C241C|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	290	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31040042	31040042	+	Silent	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31040042C>A	uc002nsu.1	+	4	3654	c.3516C>A	c.(3514-3516)TCC>TCA	p.S1172S	ZNF536_uc010edd.1_Silent_p.S1172S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)																	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31768425	31768425	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31768425C>T	uc002nsy.3	-	2	2339	c.2274G>A	c.(2272-2274)GCG>GCA	p.A758A		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	758					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)																	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34838949	34838949	+	Splice_Site	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34838949T>C	uc002nvd.3	+	11	3546	c.2687_splice	c.e11+2	p.G896_splice		NM_014686	NP_055501			hypothetical protein LOC9710											ovary(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
ZNF599	148103	broad.mit.edu	37	19	35250008	35250008	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35250008A>G	uc010edn.1	-	4	2086	c.1698T>C	c.(1696-1698)AAT>AAC	p.N566N	ZNF599_uc010edm.1_Silent_p.N529N	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	566	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)															---	---	---	---
LSR	51599	broad.mit.edu	37	19	35753459	35753459	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35753459C>T	uc002nyl.2	+	5	1009	c.786C>T	c.(784-786)TTC>TTT	p.F262F	LSR_uc002nym.2_Silent_p.F243F|LSR_uc002nyn.2_Intron|LSR_uc002nyo.2_Silent_p.F243F|LSR_uc010xsr.1_Intron|LSR_uc002nyp.2_Silent_p.F225F	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	262	Helical; (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)															---	---	---	---
MAG	4099	broad.mit.edu	37	19	35800979	35800979	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35800979G>A	uc002nyy.1	+	8	1583	c.1434G>A	c.(1432-1434)GGG>GGA	p.G478G	MAG_uc002nyx.1_Silent_p.G478G|MAG_uc010eds.1_Silent_p.G453G|MAG_uc002nyz.1_Silent_p.G478G	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	478	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)															---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36043937	36043937	+	Splice_Site	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36043937A>G	uc002oal.1	-	18	2780	c.2751_splice	c.e18+1	p.W917_splice	ATP4A_uc010eee.1_Splice_Site_p.W75_splice	NM_000704	NP_000695			hydrogen/potassium-exchanging ATPase 4A						ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)													---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36046581	36046581	+	Missense_Mutation	SNP	C	T	T	rs145767701		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36046581C>T	uc002oal.1	-	13	2032	c.2003G>A	c.(2002-2004)CGC>CAC	p.R668H	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	668	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)													---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36269464	36269464	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36269464G>A	uc002obr.1	+	5	454	c.369G>A	c.(367-369)CCG>CCA	p.P123P	ARHGAP33_uc002obs.1_Silent_p.P123P|ARHGAP33_uc002obt.1_5'UTR|ARHGAP33_uc010eek.1_Silent_p.P141P	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	123	PX; atypical.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
APLP1	333	broad.mit.edu	37	19	36365538	36365538	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36365538G>A	uc002oce.2	+	9	1327	c.1189G>A	c.(1189-1191)GCA>ACA	p.A397T	APLP1_uc010xsz.1_Missense_Mutation_p.A358T|APLP1_uc002ocf.2_Missense_Mutation_p.A397T|APLP1_uc002ocg.2_Missense_Mutation_p.A300T|APLP1_uc010xta.1_Missense_Mutation_p.A391T	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	397	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36557260	36557260	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36557260A>G	uc002odc.2	+	5	583	c.492A>G	c.(490-492)TCA>TCG	p.S164S	WDR62_uc002odd.2_Silent_p.S164S|WDR62_uc002odb.2_Silent_p.S164S	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	164	WD 2.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
DPF1	8193	broad.mit.edu	37	19	38706786	38706786	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38706786G>A	uc002ohl.2	-	8	868	c.841C>T	c.(841-843)CGA>TGA	p.R281*	DPF1_uc002ohm.2_Nonsense_Mutation_p.R325*|DPF1_uc002ohn.2_Nonsense_Mutation_p.R243*|DPF1_uc010xtu.1_Nonsense_Mutation_p.R299*|DPF1_uc010xtv.1_Nonsense_Mutation_p.R299*	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	281	PHD-type 1.				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)															---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38949797	38949797	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38949797C>T	uc002oit.2	+	19	2309	c.2179C>T	c.(2179-2181)CGC>TGC	p.R727C	RYR1_uc002oiu.2_Missense_Mutation_p.R727C	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	727	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39003103	39003103	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39003103A>G	uc002oit.2	+	63	9582	c.9452A>G	c.(9451-9453)CAG>CGG	p.Q3151R	RYR1_uc002oiu.2_Missense_Mutation_p.Q3151R|RYR1_uc002oiv.1_Missense_Mutation_p.Q71R|RYR1_uc010xuf.1_Missense_Mutation_p.Q71R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3151					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40316485	40316485	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40316485G>A	uc002omj.2	-	11	2040	c.1760C>T	c.(1759-1761)CCG>CTG	p.P587L	DYRK1B_uc002omi.2_Missense_Mutation_p.P559L|DYRK1B_uc002omk.2_Missense_Mutation_p.P547L	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	587					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)															---	---	---	---
CNTD2	79935	broad.mit.edu	37	19	40730477	40730477	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40730477C>T	uc010xvi.1	-	3	480	c.431G>A	c.(430-432)CGC>CAC	p.R144H	CNTD2_uc002ond.2_RNA	NM_024877	NP_079153	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2 isoform 2	144					regulation of cyclin-dependent protein kinase activity		protein kinase binding				0																		---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	40996012	40996012	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40996012C>T	uc002ony.2	+	4	438	c.352C>T	c.(352-354)CAC>TAC	p.H118Y	SPTBN4_uc002onx.2_Missense_Mutation_p.H118Y|SPTBN4_uc002onz.2_Missense_Mutation_p.H118Y	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	118	CH 1.|Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41132925	41132925	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41132925G>T	uc002ooh.1	+	32	4232	c.4232G>T	c.(4231-4233)AGC>ATC	p.S1411I	LTBP4_uc002oog.1_Missense_Mutation_p.S1374I|LTBP4_uc002ooi.1_Missense_Mutation_p.S1344I|LTBP4_uc002ooj.1_Missense_Mutation_p.S284I|LTBP4_uc002ook.1_Missense_Mutation_p.S545I|LTBP4_uc002ool.1_Missense_Mutation_p.S423I|LTBP4_uc010xvp.1_Missense_Mutation_p.S171I	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1411	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41132932	41132932	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41132932G>A	uc002ooh.1	+	32	4239	c.4239G>A	c.(4237-4239)CCG>CCA	p.P1413P	LTBP4_uc002oog.1_Silent_p.P1376P|LTBP4_uc002ooi.1_Silent_p.P1346P|LTBP4_uc002ooj.1_Silent_p.P286P|LTBP4_uc002ook.1_Silent_p.P547P|LTBP4_uc002ool.1_Silent_p.P425P|LTBP4_uc010xvp.1_Silent_p.P173P	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1413	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---
CYP2A6	1548	broad.mit.edu	37	19	41354296	41354296	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41354296G>A	uc002opl.3	-						CYP2A6_uc010ehe.1_Intron|CYP2A6_uc010ehf.1_Intron	NM_000762	NP_000753			cytochrome P450, family 2, subfamily A,						coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)													---	---	---	---
AXL	558	broad.mit.edu	37	19	41745098	41745098	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41745098G>T	uc010ehj.2	+	9	1354	c.1164G>T	c.(1162-1164)GAG>GAT	p.E388D	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.E388D|AXL_uc010ehk.2_Missense_Mutation_p.E388D	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	388	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13																		---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41798252	41798252	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41798252C>A	uc002oqb.3	+	8	1391	c.1102C>A	c.(1102-1104)CTC>ATC	p.L368I	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.L268I|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.L268I|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.L368I|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.L254I|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.L268I|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.L268I|HNRNPUL1_uc010eho.2_Missense_Mutation_p.L268I|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.L268I|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.L224I|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.L268I	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	368	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
TGFB1	7040	broad.mit.edu	37	19	41838133	41838133	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41838133T>C	uc002oqh.1	-	6	1781	c.914A>G	c.(913-915)GAC>GGC	p.D305G	CYP2F1_uc010xvw.1_Intron	NM_000660	NP_000651	P01137	TGFB1_HUMAN	transforming growth factor, beta 1 precursor	305					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding				0					Hyaluronidase(DB00070)													---	---	---	---
B3GNT8	374907	broad.mit.edu	37	19	41932375	41932375	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41932375G>A	uc002oqs.2	-	3	763	c.309C>T	c.(307-309)ACC>ACT	p.T103T	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	103	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0																		---	---	---	---
GRIK5	2901	broad.mit.edu	37	19	42563569	42563569	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42563569G>A	uc002osj.1	-	5	654	c.619C>T	c.(619-621)CGT>TGT	p.R207C	GRIK5_uc010eib.1_Missense_Mutation_p.R126C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	207	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)													---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42621421	42621421	+	Missense_Mutation	SNP	G	A	A	rs150784596		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42621421G>A	uc002osp.2	-	5	351	c.284C>T	c.(283-285)ACG>ATG	p.T95M	POU2F2_uc002osn.2_Missense_Mutation_p.T95M|POU2F2_uc002oso.2_Translation_Start_Site|POU2F2_uc002osq.2_Missense_Mutation_p.T95M|POU2F2_uc002osr.1_Missense_Mutation_p.T95M	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	95					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)																---	---	---	---
DEDD2	162989	broad.mit.edu	37	19	42713974	42713974	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42713974C>T	uc002osu.1	-	4	535	c.467G>A	c.(466-468)CGG>CAG	p.R156Q	DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Missense_Mutation_p.R151Q|DEDD2_uc002osx.1_Missense_Mutation_p.G40S|DEDD2_uc002osy.1_Missense_Mutation_p.R156Q|DEDD2_uc010eid.2_RNA	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	death effector domain-containing  DNA binding	156	Bipartite nuclear localization signal (Potential).				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity				0		Prostate(69;0.0704)																---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42841114	42841114	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42841114C>T	uc002otl.3	+						MEGF8_uc002otm.3_Intron	NM_001410	NP_001401			multiple EGF-like-domains 8							integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42861648	42861648	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42861648G>A	uc002otl.3	+	27	5357	c.4722G>A	c.(4720-4722)CCG>CCA	p.P1574P	MEGF8_uc002otm.3_Silent_p.P1182P	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1641	Extracellular (Potential).|Kelch 9.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43967403	43967403	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43967403C>T	uc002owl.1	-	4	527	c.419G>A	c.(418-420)TGC>TAC	p.C140Y	LYPD3_uc002owm.2_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	GPI-anchored metastasis-associated protein	140	UPAR/Ly6 2.					anchored to plasma membrane				pancreas(1)	1		Prostate(69;0.0153)																---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44280754	44280754	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44280754A>C	uc002oxl.2	-	2	590	c.194T>G	c.(193-195)ATC>AGC	p.I65S	KCNN4_uc010eiz.2_5'Flank|KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	65	Helical; Name=Segment S2; (Potential).				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)													---	---	---	---
ZNF225	7768	broad.mit.edu	37	19	44635779	44635779	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44635779C>A	uc002oyj.1	+	5	1255	c.1012C>A	c.(1012-1014)CAC>AAC	p.H338N	ZNF225_uc010eje.1_Missense_Mutation_p.H255N|ZNF225_uc010ejf.1_Missense_Mutation_p.H338N	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	338	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)																---	---	---	---
ZFP112	7771	broad.mit.edu	37	19	44832877	44832877	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44832877A>G	uc010ejj.2	-	5	1564	c.1451T>C	c.(1450-1452)TTA>TCA	p.L484S	ZFP112_uc002ozc.3_Missense_Mutation_p.L478S|ZFP112_uc010xwy.1_Missense_Mutation_p.L501S|ZFP112_uc010xwz.1_Missense_Mutation_p.L483S	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	484	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5																		---	---	---	---
CEACAM16	388551	broad.mit.edu	37	19	45202537	45202537	+	Intron	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45202537A>G	uc010xxd.1	+						CEACAM16_uc002ozq.2_Missense_Mutation_p.T16A	NM_001039213	NP_001034302			carcinoembryonic antigen-related cell adhesion											ovary(1)	1	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)																---	---	---	---
ZNF296	162979	broad.mit.edu	37	19	45574970	45574970	+	Silent	SNP	C	T	T	rs145168144		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45574970C>T	uc002pao.2	-	3	1374	c.1317G>A	c.(1315-1317)ACG>ACA	p.T439T		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	439					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
DMWD	1762	broad.mit.edu	37	19	46288989	46288989	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46288989C>T	uc002pdj.1	-	3	1811	c.1765G>A	c.(1765-1767)GAG>AAG	p.E589K	DMWD_uc002pdk.1_Missense_Mutation_p.E589K|DMWD_uc010eko.1_Missense_Mutation_p.E274K	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	589					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)														---	---	---	---
PPP5C	5536	broad.mit.edu	37	19	46890636	46890636	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46890636G>A	uc002pem.2	+	9	1121	c.1061G>A	c.(1060-1062)GGC>GAC	p.G354D	PPP5C_uc010xya.1_Missense_Mutation_p.G221D|PPP5C_uc002pen.2_Missense_Mutation_p.G332D|PPP5C_uc010xyb.1_Missense_Mutation_p.G212D	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	354	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)														---	---	---	---
CCDC8	83987	broad.mit.edu	37	19	46914767	46914767	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46914767G>A	uc002pep.2	-	1	2153	c.1301C>T	c.(1300-1302)GCT>GTT	p.A434V		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	434						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)														---	---	---	---
STRN4	29888	broad.mit.edu	37	19	47230700	47230700	+	Intron	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47230700A>C	uc002pfl.2	-						STRN4_uc002pfm.2_Intron|STRN4_uc010xyf.1_Intron|STRN4_uc010xyg.1_Intron	NM_013403	NP_037535			zinedin isoform 1							cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)														---	---	---	---
SLC1A5	6510	broad.mit.edu	37	19	47280536	47280536	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47280536G>A	uc002pfs.2	-	6	1805	c.1185C>T	c.(1183-1185)TGC>TGT	p.C395C	SLC1A5_uc010xyh.1_Silent_p.C193C|SLC1A5_uc002pfq.2_Silent_p.C219C|SLC1A5_uc002pfr.2_Silent_p.C167C	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	395	Helical; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)													---	---	---	---
NPAS1	4861	broad.mit.edu	37	19	47548656	47548656	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47548656C>T	uc002pfw.2	+	12	1716	c.1520C>T	c.(1519-1521)CCG>CTG	p.P507L	NPAS1_uc002pfx.2_Missense_Mutation_p.P332L|NPAS1_uc002pfy.2_Missense_Mutation_p.P507L|NPAS1_uc010xyj.1_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	507					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)														---	---	---	---
NAPA	8775	broad.mit.edu	37	19	47991636	47991636	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47991636T>C	uc002pha.1	-	11	1097	c.797A>G	c.(796-798)TAC>TGC	p.Y266C	uc002pgz.1_Intron|NAPA_uc002phb.1_Missense_Mutation_p.Y227C|NAPA_uc002phc.1_Missense_Mutation_p.Y153C|NAPA_uc002phd.1_Missense_Mutation_p.Y266C	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	266					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)														---	---	---	---
TPRX1	284355	broad.mit.edu	37	19	48306062	48306062	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48306062G>A	uc002php.1	-	2	277	c.206C>T	c.(205-207)ACG>ATG	p.T69M		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	69						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)														---	---	---	---
PLA2G4C	8605	broad.mit.edu	37	19	48565257	48565257	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48565257C>T	uc002phx.2	-	14	1653	c.1255G>A	c.(1255-1257)GAG>AAG	p.E419K	PLA2G4C_uc002phw.2_Missense_Mutation_p.E354K|PLA2G4C_uc010elr.2_Missense_Mutation_p.E419K|PLA2G4C_uc010xzd.1_Missense_Mutation_p.E429K	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	419	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)														---	---	---	---
DHDH	27294	broad.mit.edu	37	19	49448111	49448111	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49448111C>T	uc002ple.1	+	7	966	c.926C>T	c.(925-927)TCG>TTG	p.S309L		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	309					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-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;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)														---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49671859	49671859	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49671859T>C	uc002pmw.2	+	6	734	c.662T>C	c.(661-663)GTC>GCC	p.V221A	TRPM4_uc010emu.2_Missense_Mutation_p.V221A|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.V47A|TRPM4_uc010emv.2_Missense_Mutation_p.V106A|TRPM4_uc010yal.1_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	221	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)														---	---	---	---
PIH1D1	55011	broad.mit.edu	37	19	49949668	49949668	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49949668C>T	uc002pns.2	-	9	1128	c.844G>A	c.(844-846)GCC>ACC	p.A282T	uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	282					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)														---	---	---	---
NOSIP	51070	broad.mit.edu	37	19	50059858	50059858	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50059858C>T	uc002pok.2	-	8	825	c.673G>A	c.(673-675)GTG>ATG	p.V225M	NOSIP_uc002pol.2_Missense_Mutation_p.V225M	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	225					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)														---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50548543	50548543	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50548543G>A	uc002prn.2	+	5	1080	c.843G>A	c.(841-843)TGG>TGA	p.W281*	ZNF473_uc002prm.2_Nonsense_Mutation_p.W281*|ZNF473_uc010ybo.1_Nonsense_Mutation_p.W269*	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	281	C2H2-type 2; degenerate.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)														---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50747580	50747580	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50747580T>C	uc002prr.1	+	10	1219	c.1172T>C	c.(1171-1173)ATG>ACG	p.M391T	MYH14_uc010enu.1_Missense_Mutation_p.M399T|MYH14_uc002prq.1_Missense_Mutation_p.M399T	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	391	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)														---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51021091	51021091	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51021091C>T	uc002pss.2	-	3	2016	c.1879G>A	c.(1879-1881)GCC>ACC	p.A627T		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	627	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)														---	---	---	---
KLK12	43849	broad.mit.edu	37	19	51535273	51535273	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51535273C>T	uc002pvg.1	-	3	436	c.316G>A	c.(316-318)GAG>AAG	p.E106K	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Missense_Mutation_p.E106K|KLK12_uc002pvi.1_Missense_Mutation_p.E106K|KLK12_uc002pvj.1_Intron	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	106	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)														---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961233	51961233	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51961233A>G	uc002pwt.2	-	1	476	c.409T>C	c.(409-411)TCA>CCA	p.S137P	SIGLEC8_uc010yda.1_Missense_Mutation_p.S137P|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.S137P	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	137	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)														---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659509	52659509	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52659509C>T	uc010ydi.1	-	5	1801	c.1427G>A	c.(1426-1428)GGC>GAC	p.G476D	ZNF836_uc010ydj.1_Missense_Mutation_p.G476D	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	476	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52715983	52715983	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52715983G>A	uc002pyp.2	+	5	707	c.548G>A	c.(547-549)CGG>CAG	p.R183Q	PPP2R1A_uc010ydk.1_Missense_Mutation_p.R128Q|PPP2R1A_uc010epm.1_Missense_Mutation_p.R223Q|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R4Q	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	183	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 5.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.R183W(16)|p.R183Q(7)|p.R183G(2)		endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)				Mis		clear cell ovarian carcinoma								---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52724264	52724264	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52724264C>A	uc002pyp.2	+	12	1555	c.1396C>A	c.(1396-1398)CTG>ATG	p.L466M	PPP2R1A_uc010ydk.1_Missense_Mutation_p.L411M|PPP2R1A_uc002pyq.2_Missense_Mutation_p.L287M	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	466	PP2A subunit C binding.|HEAT 12.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)				Mis		clear cell ovarian carcinoma								---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53994075	53994075	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53994075C>T	uc002qbu.2	+	4	717	c.589C>T	c.(589-591)CGG>TGG	p.R197W	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)														---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54314260	54314260	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54314260G>A	uc002qch.3	-	3	873	c.653C>T	c.(652-654)GCG>GTG	p.A218V	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A218V|NLRP12_uc002qcj.3_Missense_Mutation_p.A218V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A218V	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	218	NACHT.|ATP (Potential).				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)														---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54669187	54669187	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54669187C>T	uc010erf.2	-	6	1061	c.929G>A	c.(928-930)CGG>CAG	p.R310Q	TMC4_uc002qdn.2_5'Flank|TMC4_uc002qdo.2_Missense_Mutation_p.R304Q	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	310	Extracellular (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)																	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54721312	54721312	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54721312G>A	uc002qef.1	-	12	1736	c.1625C>T	c.(1624-1626)ACG>ATG	p.T542M	LILRB3_uc002qee.1_Missense_Mutation_p.T543M|LILRB3_uc002qeh.1_Missense_Mutation_p.T542M|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.T542M|LILRA6_uc002qek.1_Missense_Mutation_p.T543M|LILRB3_uc010erh.1_Missense_Mutation_p.T559M|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.T542M|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.T543M|LILRB3_uc002qep.1_Missense_Mutation_p.T543M|LILRB3_uc002qeq.1_Missense_Mutation_p.T542M|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.T543M	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	542	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---
LAIR1	3903	broad.mit.edu	37	19	54872811	54872811	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54872811G>T	uc002qfk.1	-	3	386	c.76C>A	c.(76-78)CTG>ATG	p.L26M	LAIR1_uc002qfl.1_Missense_Mutation_p.L26M|LAIR1_uc002qfm.1_Missense_Mutation_p.L25M|LAIR1_uc002qfn.1_Missense_Mutation_p.L25M|LAIR1_uc010yex.1_Missense_Mutation_p.L19M|LAIR1_uc002qfo.2_Missense_Mutation_p.L8M	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	26	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)														---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086397	55086397	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55086397C>T	uc002qgg.3	+	4	641	c.552C>T	c.(550-552)CCC>CCT	p.P184P	LILRA2_uc010ern.2_Silent_p.P184P|LILRA2_uc002qgf.2_Silent_p.P184P|LILRA2_uc010yfe.1_Silent_p.P184P|LILRA2_uc010yff.1_Silent_p.P172P|LILRA2_uc010ero.2_Silent_p.P172P|LILRA2_uc010yfg.1_Silent_p.P184P	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	184	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)														---	---	---	---
KIR2DL3	3804	broad.mit.edu	37	19	55250015	55250015	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55250015C>T	uc002qgv.2	+						KIR2DL3_uc002qgx.2_Missense_Mutation_p.S2L|KIR2DL3_uc002qgy.2_Missense_Mutation_p.S2L|KIR2DL3_uc010erw.1_Missense_Mutation_p.S2L|KIR2DL1_uc002qgz.1_5'Flank	NM_015868	NP_056952			killer cell immunoglobulin-like receptor, two						immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)												OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55451377	55451377	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55451377G>A	uc002qih.3	-	4	886	c.810C>T	c.(808-810)TGC>TGT	p.C270C	NLRP7_uc002qig.3_Silent_p.C270C|NLRP7_uc002qii.3_Silent_p.C270C|NLRP7_uc010esk.2_Silent_p.C270C|NLRP7_uc010esl.2_Silent_p.C298C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	270	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---
NLRP2	55655	broad.mit.edu	37	19	55481476	55481476	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55481476G>A	uc002qij.2	+	2	179	c.93G>A	c.(91-93)ACG>ACA	p.T31T	NLRP2_uc010yfp.1_Silent_p.T31T|NLRP2_uc010esn.2_Silent_p.T31T|NLRP2_uc010eso.2_Silent_p.T31T|NLRP2_uc010esp.2_Silent_p.T31T	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	31	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)														---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55816195	55816195	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55816195G>A	uc002qkg.2	+	14	1901	c.1624G>A	c.(1624-1626)GGT>AGT	p.G542S	BRSK1_uc002qkf.2_Missense_Mutation_p.G558S|BRSK1_uc002qkh.2_Missense_Mutation_p.G237S	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	542					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)														---	---	---	---
ZNF628	89887	broad.mit.edu	37	19	55993938	55993938	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55993938G>T	uc002qld.2	+	3	1931	c.1366G>T	c.(1366-1368)GGC>TGC	p.G456C	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	456	C2H2-type 10.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)														---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57088950	57088950	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57088950C>T	uc002qnl.3	+	6	1829	c.1153C>T	c.(1153-1155)CGT>TGT	p.R385C	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	385	C2H2-type 6.|Nuclear localization signal (Potential).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)														---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57286617	57286617	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57286617T>C	uc002qnr.2	-	11	1405	c.1023A>G	c.(1021-1023)GTA>GTG	p.V341V	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.V137V|ZIM2_uc010ygr.1_Silent_p.V137V|ZIM2_uc002qnq.2_Silent_p.V341V|ZIM2_uc010etp.2_Silent_p.V341V|ZIM2_uc010ygs.1_Silent_p.V341V	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	341	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)														---	---	---	---
ZNF776	284309	broad.mit.edu	37	19	58266024	58266024	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58266024T>C	uc002qpx.2	+	3	1749	c.1526T>C	c.(1525-1527)GTT>GCT	p.V509A	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.V509A	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	509	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)														---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58565039	58565039	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58565039C>T	uc002qrc.1	+	6	1094	c.847C>T	c.(847-849)CCG>TCG	p.P283S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	283					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)														---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58598704	58598704	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58598704G>A	uc002qri.2	-	4	930	c.621C>T	c.(619-621)GAC>GAT	p.D207D	ZSCAN18_uc002qrj.3_Silent_p.D207D|ZSCAN18_uc010yhs.1_Silent_p.D72D|ZSCAN18_uc002qrh.2_Silent_p.D207D|ZSCAN18_uc010yht.1_Silent_p.D263D|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)														---	---	---	---
ZNF8	7554	broad.mit.edu	37	19	58806136	58806136	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58806136C>T	uc002qry.1	+	4	1092	c.962C>T	c.(961-963)TCT>TTT	p.S321F	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	321	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)														---	---	---	---
ZSCAN22	342945	broad.mit.edu	37	19	58849911	58849911	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58849911C>T	uc002qsc.2	+	3	842	c.695C>T	c.(694-696)GCG>GTG	p.A232V	ZSCAN22_uc010yhz.1_Missense_Mutation_p.R227C	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	232					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)														---	---	---	---
ZNF324B	388569	broad.mit.edu	37	19	58967706	58967706	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58967706C>T	uc002qsv.1	+	4	1502	c.1395C>T	c.(1393-1395)GGC>GGT	p.G465G	ZNF324B_uc002qsu.1_Silent_p.G455G|ZNF324B_uc010euq.1_Silent_p.G465G	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	465	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)														---	---	---	---
SRXN1	140809	broad.mit.edu	37	20	629410	629410	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:629410G>A	uc002wea.2	-	2	423	c.362C>T	c.(361-363)ACT>ATT	p.T121I	SRXN1_uc002web.2_RNA	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1 homolog	121					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			ovary(1)	1																		---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1277814	1277814	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1277814C>T	uc002wes.2	+	4	312	c.76C>T	c.(76-78)CGG>TGG	p.R26W	SNPH_uc002wet.2_Missense_Mutation_p.R70W	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	26					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2																		---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1281194	1281194	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1281194G>A	uc002wes.2	+						SNPH_uc002wet.2_Intron	NM_014723	NP_055538			syntaphilin						synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2																		---	---	---	---
CDC25B	994	broad.mit.edu	37	20	3780933	3780933	+	Splice_Site	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3780933A>C	uc002wjn.2	+	4	1159	c.381_splice	c.e4-2	p.T127_splice	CDC25B_uc010zqk.1_Splice_Site_p.T63_splice|CDC25B_uc010zql.1_Splice_Site_p.T49_splice|CDC25B_uc010zqm.1_Splice_Site_p.T63_splice|CDC25B_uc002wjl.2_Splice_Site_p.T15_splice|CDC25B_uc002wjm.2_Splice_Site_p.T15_splice|CDC25B_uc002wjo.2_Splice_Site_p.T113_splice|CDC25B_uc002wjp.2_Splice_Site_p.T127_splice|CDC25B_uc002wjq.2_5'UTR|CDC25B_uc010gbc.2_5'Flank	NM_021873	NP_068659			cell division cycle 25B isoform 1						cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|ovary(2)	5																		---	---	---	---
MAVS	57506	broad.mit.edu	37	20	3844972	3844972	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3844972G>A	uc002wjw.3	+	6	864	c.695G>A	c.(694-696)CGT>CAT	p.R232H	MAVS_uc002wjx.3_Missense_Mutation_p.R91H|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	232	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0																		---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4164225	4164225	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4164225C>T	uc002wkm.1	+	6	1655	c.1454C>T	c.(1453-1455)ACG>ATG	p.T485M	SMOX_uc002wkk.1_Missense_Mutation_p.T432M|SMOX_uc002wkl.1_Missense_Mutation_p.T432M|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.T485M|SMOX_uc010zqo.1_Missense_Mutation_p.T409M|SMOX_uc002wko.1_Missense_Mutation_p.T485M	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	485					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)													---	---	---	---
ADRA1D	146	broad.mit.edu	37	20	4229311	4229311	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4229311G>A	uc002wkr.2	-	1	349	c.294C>T	c.(292-294)GGC>GGT	p.G98G		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	98	Helical; Name=1; (By similarity).				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)													---	---	---	---
PRNP	5621	broad.mit.edu	37	20	4680491	4680491	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4680491G>A	uc002wku.2	+	2	988	c.625G>A	c.(625-627)GTG>ATG	p.V209M	PRNP_uc002wkv.2_Missense_Mutation_p.V209M|PRNP_uc002wkw.2_Missense_Mutation_p.V209M|PRNP_uc002wkx.2_Missense_Mutation_p.V209M|PRNP_uc002wkt.1_Missense_Mutation_p.V179M|PRNP_uc002wky.2_Missense_Mutation_p.V209M|PRNP_uc010gbe.1_Missense_Mutation_p.V209M	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	209	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)													---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4850638	4850638	+	Silent	SNP	G	A	A	rs147469332	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4850638G>A	uc002wlg.1	-	12	1539	c.1164C>T	c.(1162-1164)GTC>GTT	p.V388V	SLC23A2_uc010zqr.1_Silent_p.V273V|SLC23A2_uc002wlh.1_Silent_p.V388V|SLC23A2_uc002wli.2_Silent_p.V387V	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	388	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																		---	---	---	---
BMP2	650	broad.mit.edu	37	20	6759236	6759236	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:6759236G>T	uc002wmu.1	+	3	1476	c.691G>T	c.(691-693)GCC>TCC	p.A231S		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	231					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			ovary(1)|breast(1)	2					Simvastatin(DB00641)													---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9520201	9520201	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:9520201T>C	uc002wnl.2	-	11	2613	c.2068A>G	c.(2068-2070)ACA>GCA	p.T690A	PAK7_uc002wnk.2_Missense_Mutation_p.T690A|PAK7_uc002wnj.2_Missense_Mutation_p.T690A|PAK7_uc010gby.1_Missense_Mutation_p.T603A	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	690	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)															---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17417441	17417441	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17417441C>T	uc002wpm.2	+	8	1118	c.798C>T	c.(796-798)AGC>AGT	p.S266S	PCSK2_uc002wpl.2_Silent_p.S247S|PCSK2_uc010zrm.1_Silent_p.S231S	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	266	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20586055	20586055	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20586055G>A	uc002wrz.2	-	15	1945	c.1802C>T	c.(1801-1803)ACG>ATG	p.T601M	RALGAPA2_uc010gcx.2_Missense_Mutation_p.T305M|RALGAPA2_uc010zsg.1_Missense_Mutation_p.T2M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	601					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---
TPX2	22974	broad.mit.edu	37	20	30370135	30370135	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30370135G>A	uc002wwp.1	+	11	1836	c.1138G>A	c.(1138-1140)GCT>ACT	p.A380T	TPX2_uc010gdv.1_Missense_Mutation_p.A416T	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	380					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)															---	---	---	---
MYL9	10398	broad.mit.edu	37	20	35176475	35176475	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35176475C>T	uc002xfl.1	+	3	319	c.225C>T	c.(223-225)AGC>AGT	p.S75S	uc002xfk.3_Intron|MYL9_uc002xfm.1_Intron	NM_006097	NP_006088	P24844	MYL9_HUMAN	myosin regulatory light chain 9 isoform a	75					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle				0	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)																---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37638972	37638972	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37638972T>C	uc002xjh.2	+	13	1283	c.1272T>C	c.(1270-1272)CGT>CGC	p.R424R	DHX35_uc010zwa.1_Silent_p.R269R|DHX35_uc010zwb.1_Silent_p.R269R|DHX35_uc010zwc.1_Silent_p.R393R	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	424	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41306614	41306614	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:41306614G>A	uc002xkg.2	-	7	1229	c.1045C>T	c.(1045-1047)CAT>TAT	p.H349Y	PTPRT_uc010ggj.2_Missense_Mutation_p.H349Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	349	Extracellular (Potential).|Fibronectin type-III 1.				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)																---	---	---	---
MYBL2	4605	broad.mit.edu	37	20	42302493	42302493	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42302493C>T	uc002xlb.1	+	2	283	c.68C>T	c.(67-69)CCG>CTG	p.P23L	MYBL2_uc010zwj.1_Missense_Mutation_p.P23L|MYBL2_uc002xla.1_Missense_Mutation_p.P23L	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)															---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42788479	42788479	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42788479G>A	uc002xli.1	-	2	1821	c.948C>T	c.(946-948)GGC>GGT	p.G316G		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	316	MORN 8.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
HNF4A	3172	broad.mit.edu	37	20	43057109	43057109	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43057109C>T	uc002xma.2	+	9	1353	c.1264C>T	c.(1264-1266)CGA>TGA	p.R422*	HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Nonsense_Mutation_p.R400*|HNF4A_uc002xlz.2_Intron|HNF4A_uc010ggq.2_Nonsense_Mutation_p.R415*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	422					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
NEURL2	140825	broad.mit.edu	37	20	44518902	44518902	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44518902C>A	uc002xqg.1	-	1	1000	c.729G>T	c.(727-729)CAG>CAT	p.Q243H	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	243	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)														OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45140720	45140720	+	Splice_Site	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45140720C>T	uc002xsc.2	-	2	205	c.21_splice	c.e2+1	p.Q7_splice	ZNF334_uc002xsd.2_Splice_Site|ZNF334_uc010ghl.2_Splice_Site	NM_018102	NP_060572			zinc finger protein 334 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47845427	47845427	+	Splice_Site	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47845427T>C	uc002xuh.2	+	8	1034	c.973_splice	c.e8+2	p.G325_splice		NM_017895	NP_060365			DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49214161	49214161	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49214161G>A	uc002xvm.2	-	14	2052	c.1734C>T	c.(1732-1734)TTC>TTT	p.F578F	FAM65C_uc010zyt.1_Silent_p.F582F|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.F578F	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	578										ovary(2)	2																		---	---	---	---
MOCS3	27304	broad.mit.edu	37	20	49576679	49576679	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49576679T>C	uc002xvy.1	+	1	1317	c.1300T>C	c.(1300-1302)TTA>CTA	p.L434L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	434	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3																		---	---	---	---
KCNG1	3755	broad.mit.edu	37	20	49626567	49626567	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49626567G>A	uc002xwa.3	-	2	604	c.309C>T	c.(307-309)AAC>AAT	p.N103N	KCNG1_uc002xwb.2_Silent_p.N103N	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	103	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50768821	50768821	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50768821T>C	uc002xwl.2	-	6	2259	c.1910A>G	c.(1909-1911)AAC>AGC	p.N637S	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.N635S|ZFP64_uc002xwn.2_Missense_Mutation_p.N583S	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769100	50769100	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50769100C>T	uc002xwl.2	-	6	1980	c.1631G>A	c.(1630-1632)CGC>CAC	p.R544H	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.R542H|ZFP64_uc002xwn.2_Missense_Mutation_p.R490H	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769117	50769117	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50769117G>T	uc002xwl.2	-	6	1963	c.1614C>A	c.(1612-1614)AGC>AGA	p.S538R	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.S536R|ZFP64_uc002xwn.2_Missense_Mutation_p.S484R	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
CSTF1	1477	broad.mit.edu	37	20	54978560	54978560	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:54978560A>G	uc002xxl.1	+	6	1273	c.1073A>G	c.(1072-1074)CAG>CGG	p.Q358R	CSTF1_uc002xxm.1_Missense_Mutation_p.Q358R|CSTF1_uc002xxn.1_Missense_Mutation_p.Q358R|CSTF1_uc002xxo.1_Missense_Mutation_p.Q301R	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	358					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)															---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56078505	56078505	+	Silent	SNP	G	A	A	rs146134532		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56078505G>A	uc010gix.1	-	9	2489	c.1827C>T	c.(1825-1827)GCC>GCT	p.A609A	CTCFL_uc010giw.1_Silent_p.A609A|CTCFL_uc002xym.2_Silent_p.A609A|CTCFL_uc010giz.1_Silent_p.A197A|CTCFL_uc010giy.1_Silent_p.A279A|CTCFL_uc010gja.1_Silent_p.A559A|CTCFL_uc010gjb.1_Silent_p.A609A|CTCFL_uc010gjc.1_Silent_p.A609A|CTCFL_uc010gjd.1_Silent_p.A609A|CTCFL_uc010gje.2_Silent_p.A609A|CTCFL_uc010gjf.2_Silent_p.A404A|CTCFL_uc010gjg.2_Silent_p.A341A|CTCFL_uc010giu.2_RNA|CTCFL_uc010giv.2_RNA	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	609					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)															---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60348097	60348097	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60348097T>C	uc002ybn.1	+	4	449	c.435T>C	c.(433-435)TCT>TCC	p.S145S	CDH4_uc002ybp.1_Silent_p.S71S	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	145					adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)															---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60498692	60498692	+	Missense_Mutation	SNP	G	A	A	rs148441133	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60498692G>A	uc002ybn.1	+	10	1572	c.1558G>A	c.(1558-1560)GTG>ATG	p.V520M	CDH4_uc002ybp.1_Missense_Mutation_p.V446M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	520	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)															---	---	---	---
GTPBP5	26164	broad.mit.edu	37	20	60770906	60770906	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60770906G>A	uc002yce.3	+	3	291	c.253G>A	c.(253-255)GGA>AGA	p.G85R	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Missense_Mutation_p.G85R|GTPBP5_uc011aag.1_Missense_Mutation_p.G85R	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	85	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)															---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61510982	61510982	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61510982G>A	uc002ydr.1	-	16	6590	c.6326C>T	c.(6325-6327)GCG>GTG	p.A2109V	DIDO1_uc002yds.1_Missense_Mutation_p.A2109V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2109	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)																	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512957	61512957	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61512957C>A	uc002ydr.1	-	16	4615	c.4351G>T	c.(4351-4353)GAC>TAC	p.D1451Y	DIDO1_uc002yds.1_Missense_Mutation_p.D1451Y	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1451					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)																	---	---	---	---
NKAIN4	128414	broad.mit.edu	37	20	61881322	61881322	+	Missense_Mutation	SNP	C	A	A	rs147137550	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61881322C>A	uc002yek.2	-	2	247	c.157G>T	c.(157-159)GGC>TGC	p.G53C	NKAIN4_uc010gkd.1_5'UTR	NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	53	Helical; (Potential).					integral to membrane|plasma membrane					0	all_cancers(38;2.72e-09)																	---	---	---	---
ARFGAP1	55738	broad.mit.edu	37	20	61907543	61907543	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61907543T>G	uc002yem.2	+	3	273	c.161T>G	c.(160-162)GTT>GGT	p.V54G	ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.V54G|ARFGAP1_uc002yen.2_Missense_Mutation_p.V54G	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	54	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)																	---	---	---	---
PRIC285	85441	broad.mit.edu	37	20	62194495	62194495	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62194495C>T	uc002yfm.2	-	9	6572	c.5680G>A	c.(5680-5682)GGC>AGC	p.G1894S	PRIC285_uc002yfl.1_Missense_Mutation_p.G1325S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1894					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)															---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62311308	62311308	+	Intron	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62311308T>C	uc002yfu.1	+						RTEL1_uc011abc.1_Intron|RTEL1_uc002yft.1_Intron|RTEL1_uc011abd.1_Intron|RTEL1_uc011abe.1_Intron|RTEL1_uc002yfw.2_Intron	NM_016434	NP_057518			regulator of telomere elongation helicase 1						DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62321137	62321137	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62321137C>T	uc002yfu.1	+	24	2403	c.2060C>T	c.(2059-2061)GCG>GTG	p.A687V	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.A687V|RTEL1_uc011abd.1_Missense_Mutation_p.A711V|RTEL1_uc011abe.1_Missense_Mutation_p.A464V|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	687					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62591325	62591325	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62591325G>A	uc002yhl.1	-	17	2649	c.2595C>T	c.(2593-2595)GAC>GAT	p.D865D		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	865					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)																	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11098732	11098732	+	5'UTR	SNP	C	T	T	rs73891536		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:11098732C>T	uc002yit.1	-	1					BAGE_uc002yix.2_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)														---	---	---	---
APP	351	broad.mit.edu	37	21	27425591	27425591	+	Silent	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27425591A>C	uc002ylz.2	-	4	629	c.429T>G	c.(427-429)GTT>GTG	p.V143V	APP_uc010glk.2_Silent_p.V138V|APP_uc002yma.2_Silent_p.V143V|APP_uc011ach.1_Silent_p.V87V|APP_uc002ymb.2_Silent_p.V143V|APP_uc010glj.2_Silent_p.V87V|APP_uc011aci.1_Silent_p.V108V|APP_uc011acj.1_Silent_p.V143V	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	143	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)																---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28305340	28305340	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28305340T>C	uc002ymg.2	-	5	2442	c.1713A>G	c.(1711-1713)GGA>GGG	p.G571G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	571	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
RNF160	26046	broad.mit.edu	37	21	30324485	30324485	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30324485T>C	uc002ymr.2	-	18	3492	c.3479A>G	c.(3478-3480)GAA>GGA	p.E1160G		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1114							ligase activity|zinc ion binding				0																		---	---	---	---
KRTAP19-5	337972	broad.mit.edu	37	21	31874344	31874344	+	Missense_Mutation	SNP	C	T	T	rs150866063		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31874344C>T	uc011ada.1	-	1	65	c.65G>A	c.(64-66)GGC>GAC	p.G22D		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	22						intermediate filament	protein binding				0																		---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32513434	32513434	+	Splice_Site	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32513434A>G	uc002yow.1	-	23	4246	c.3774_splice	c.e23+1	p.E1258_splice	TIAM1_uc011adk.1_Splice_Site_p.E1258_splice|TIAM1_uc011adl.1_Splice_Site_p.E1198_splice	NM_003253	NP_003244			T-cell lymphoma invasion and metastasis 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10																		---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32582396	32582396	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32582396C>T	uc002yow.1	-	12	2825	c.2353G>A	c.(2353-2355)GAC>AAC	p.D785N	TIAM1_uc011adk.1_Missense_Mutation_p.D785N|TIAM1_uc011adl.1_Missense_Mutation_p.D760N	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	785	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10																		---	---	---	---
SFRS15	57466	broad.mit.edu	37	21	33044413	33044413	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33044413A>C	uc002ypd.2	-	20	3169	c.2743T>G	c.(2743-2745)TTT>GTT	p.F915V	SFRS15_uc002ype.2_Missense_Mutation_p.F893V|SFRS15_uc010glu.2_Missense_Mutation_p.F900V	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	915						nucleus	nucleotide binding|RNA binding				0																		---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33340661	33340661	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33340661C>T	uc002yph.2	+	6	1334	c.974C>T	c.(973-975)ACG>ATG	p.T325M		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	325					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2																		---	---	---	---
CRYZL1	9946	broad.mit.edu	37	21	34971554	34971554	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34971554G>A	uc011adw.1	-	9	758	c.578C>T	c.(577-579)GCC>GTC	p.A193V	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.A217V|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysq.2_5'Flank	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	193					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0																		---	---	---	---
RUNX1	861	broad.mit.edu	37	21	36252918	36252918	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:36252918G>A	uc002yuh.2	-	2	1941	c.363C>T	c.(361-363)ACC>ACT	p.T121T	RUNX1_uc002yui.2_Silent_p.T121T|RUNX1_uc010gmu.2_Silent_p.T148T|RUNX1_uc010gmv.2_Silent_p.T148T|RUNX1_uc002yuj.3_Silent_p.T16T|RUNX1_uc002yuk.3_Silent_p.T148T|RUNX1_uc002yum.1_Silent_p.T16T|RUNX1_uc010gmw.1_Silent_p.T148T|RUNX1_uc002yuo.1_Silent_p.T121T|RUNX1_uc002yur.1_Silent_p.T16T	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	121	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.L121fs*2(1)|p.A149fs*2(1)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387								T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				---	---	---	---
CHAF1B	8208	broad.mit.edu	37	21	37788576	37788576	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37788576C>T	uc002yvj.2	+	14	1730	c.1592C>T	c.(1591-1593)ACG>ATG	p.T531M		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	531					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2																		---	---	---	---
KCNJ15	3772	broad.mit.edu	37	21	39671314	39671314	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:39671314A>G	uc002ywv.2	+	4	433	c.131A>G	c.(130-132)GAT>GGT	p.D44G	KCNJ15_uc002yww.2_Missense_Mutation_p.D44G|KCNJ15_uc002ywx.2_Missense_Mutation_p.D44G	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	44	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6																		---	---	---	---
ETS2	2114	broad.mit.edu	37	21	40194777	40194777	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40194777C>T	uc002yxg.2	+	10	1570	c.1374C>T	c.(1372-1374)CAC>CAT	p.H458H	ETS2_uc002yxf.2_Silent_p.H598H	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	458					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)																---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41416171	41416171	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41416171C>T	uc002yyq.1	-	31	5669	c.5217G>A	c.(5215-5217)GGG>GGA	p.G1739G	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1739	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)																---	---	---	---
BACE2	25825	broad.mit.edu	37	21	42647470	42647470	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42647470G>A	uc002yyw.2	+	9	1939	c.1476G>A	c.(1474-1476)CTG>CTA	p.L492L	BACE2_uc002yyx.2_Silent_p.L442L|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	492	Helical; (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)																---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42866364	42866364	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42866364C>T	uc002yzj.2	-	3	291	c.157G>A	c.(157-159)GCC>ACC	p.A53T	TMPRSS2_uc010gor.2_Missense_Mutation_p.A90T|TMPRSS2_uc010gos.1_Missense_Mutation_p.A53T	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	53	Cytoplasmic (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)						T	ERG|ETV1|ETV4|ETV5	prostate 								---	---	---	---
RRP1B	23076	broad.mit.edu	37	21	45107917	45107917	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45107917C>T	uc002zdk.2	+	13	1776	c.1662C>T	c.(1660-1662)CCC>CCT	p.P554P	RRP1B_uc002zdl.2_Silent_p.P87P	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	554					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)														---	---	---	---
PWP2	5822	broad.mit.edu	37	21	45540348	45540348	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45540348C>T	uc002zeb.2	+	11	1398	c.1308C>T	c.(1306-1308)GAC>GAT	p.D436D		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	436	WD 9.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)														---	---	---	---
AIRE	326	broad.mit.edu	37	21	45711065	45711065	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45711065C>A	uc002zei.2	+	8	1094	c.967C>A	c.(967-969)CTG>ATG	p.L323M	AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.L126M|AIRE_uc010gpr.2_Missense_Mutation_p.L126M	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	323	PHD-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)										Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy				---	---	---	---
KRTAP10-9	386676	broad.mit.edu	37	21	46047185	46047185	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46047185G>A	uc002zfp.3	+	1	146	c.97G>A	c.(97-99)GCC>ACC	p.A33T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	33	2.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0																		---	---	---	---
KRTAP10-10	353333	broad.mit.edu	37	21	46057386	46057386	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46057386C>T	uc002zfq.2	+	1	114	c.52C>T	c.(52-54)CGG>TGG	p.R18W	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	18						keratin filament					0																		---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46902703	46902703	+	Intron	SNP	G	A	A	rs142726108	by1000genomes	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46902703G>A	uc011afs.1	+						COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Intron	NM_130444	NP_569711			alpha 1 type XVIII collagen isoform 3 precursor						cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47423577	47423577	+	Missense_Mutation	SNP	G	A	A	rs141713954		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47423577G>A	uc002zhu.1	+	35	2839	c.2737G>A	c.(2737-2739)GCC>ACC	p.A913T	COL6A1_uc010gqd.1_Missense_Mutation_p.A244T|COL6A1_uc002zhv.1_Missense_Mutation_p.A244T|COL6A1_uc002zhw.1_Missense_Mutation_p.A7T	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	913	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47697478	47697478	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47697478G>A	uc002zir.1	-	5	1857	c.1821C>T	c.(1819-1821)TAC>TAT	p.Y607Y		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	607					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)																	---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17581248	17581248	+	Missense_Mutation	SNP	C	T	T	rs145378071	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17581248C>T	uc002zly.2	+	5	560	c.427C>T	c.(427-429)CGT>TGT	p.R143C	IL17RA_uc010gqt.2_Missense_Mutation_p.R143C	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	143	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)														---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17688177	17688177	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17688177G>A	uc002zmk.1	-	2	538	c.326C>T	c.(325-327)GCT>GTT	p.A109V	CECR1_uc010gqu.1_Missense_Mutation_p.A109V|CECR1_uc011agi.1_Missense_Mutation_p.A67V|CECR1_uc011agj.1_Missense_Mutation_p.A67V	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	109					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)																---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17690434	17690434	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17690434C>T	uc002zmk.1	-	1	346	c.134G>A	c.(133-135)CGG>CAG	p.R45Q	CECR1_uc010gqu.1_Missense_Mutation_p.R45Q|CECR1_uc011agi.1_Missense_Mutation_p.R3Q|CECR1_uc011agj.1_Missense_Mutation_p.R3Q	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	45	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)																---	---	---	---
SEPT5	5413	broad.mit.edu	37	22	19709399	19709399	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19709399C>T	uc002zpv.1	+	10	994	c.869C>T	c.(868-870)ACG>ATG	p.T290M	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_Translation_Start_Site|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	290					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)																	---	---	---	---
COMT	1312	broad.mit.edu	37	22	19956143	19956143	+	Missense_Mutation	SNP	C	T	T	rs139449932	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19956143C>T	uc002zqu.2	+	6	949	c.700C>T	c.(700-702)CGC>TGC	p.R234C	COMT_uc002zqv.2_Missense_Mutation_p.R234C|COMT_uc002zqw.2_Missense_Mutation_p.R234C|COMT_uc011ahd.1_Missense_Mutation_p.R234C|COMT_uc002zqx.2_Missense_Mutation_p.R234C	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	234					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)													---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21082088	21082088	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21082088C>T	uc002zsz.3	-	40	4804	c.4573G>A	c.(4573-4575)GTT>ATT	p.V1525I	PI4KA_uc002zsy.3_Missense_Mutation_p.V335I	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1525					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)															---	---	---	---
LZTR1	8216	broad.mit.edu	37	22	21343941	21343941	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21343941C>T	uc002zto.2	+	7	724	c.621C>T	c.(619-621)CTC>CTT	p.L207L	LZTR1_uc002ztn.2_Silent_p.L166L|LZTR1_uc011ahy.1_Silent_p.L188L|LZTR1_uc010gsr.1_Silent_p.L78L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	207	Kelch 3.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)															---	---	---	---
BCR	613	broad.mit.edu	37	22	23653915	23653915	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23653915C>T	uc002zww.2	+	19	3810	c.3214C>T	c.(3214-3216)CGC>TGC	p.R1072C	BCR_uc002zwx.2_Missense_Mutation_p.R1028C|BCR_uc011aiy.1_Missense_Mutation_p.R661C	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	1072	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12								T	ABL1| FGFR1|JAK2 	CML|ALL|AML								---	---	---	---
ZNF70	7621	broad.mit.edu	37	22	24086165	24086165	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24086165C>T	uc002zxs.2	-	2	1624	c.1163G>A	c.(1162-1164)GGC>GAC	p.G388D	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	388						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2																		---	---	---	---
SNRPD3	6634	broad.mit.edu	37	22	24964007	24964007	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24964007T>C	uc003aam.1	+	3	622	c.182T>C	c.(181-183)GTA>GCA	p.V61A	SNRPD3_uc011aju.1_Missense_Mutation_p.V61A	NM_004175	NP_004166	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein polypeptide D3	61					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			ovary(1)	1																		---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26423370	26423370	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26423370C>T	uc003abz.1	+	43	7680	c.7430C>T	c.(7429-7431)ACG>ATG	p.T2477M	MYO18B_uc003aca.1_Missense_Mutation_p.T2358M|MYO18B_uc010guy.1_Missense_Mutation_p.T2359M|MYO18B_uc010guz.1_Missense_Mutation_p.T2357M|MYO18B_uc011aka.1_Missense_Mutation_p.T1631M|MYO18B_uc011akb.1_Missense_Mutation_p.T1990M|MYO18B_uc010gva.1_Missense_Mutation_p.T460M|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2477						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12																		---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26747187	26747187	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26747187G>A	uc003acb.2	+	12	2733	c.2577G>A	c.(2575-2577)ACG>ACA	p.T859T	SEZ6L_uc003acc.2_Silent_p.T859T|SEZ6L_uc011akc.1_Silent_p.T859T|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Silent_p.T859T|SEZ6L_uc003ace.2_Silent_p.T859T|SEZ6L_uc003acf.1_Silent_p.T632T|SEZ6L_uc010gvc.1_Silent_p.T632T|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	859	Sushi 4.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
TFIP11	24144	broad.mit.edu	37	22	26902263	26902263	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26902263C>T	uc003acr.2	-						TFIP11_uc003acs.2_Intron|TFIP11_uc003act.2_Intron	NM_012143	NP_036275			tuftelin interacting protein 11						biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30413941	30413941	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30413941G>A	uc003agv.3	+	16	2028	c.1700G>A	c.(1699-1701)CGT>CAT	p.R567H	MTMR3_uc003agu.3_Missense_Mutation_p.R567H|MTMR3_uc003agw.3_Missense_Mutation_p.R567H	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	567	Myotubularin phosphatase.			LYPVCHVRNLMLWSAVYLP -> CILQPFHCGQQKEFGVGY I (in Ref. 7).	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)															---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30691728	30691728	+	Silent	SNP	G	A	A	rs141103266		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30691728G>A	uc011akt.1	-	4	546	c.522C>T	c.(520-522)CAC>CAT	p.H174H	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.H32H|TBC1D10A_uc003ahj.3_Silent_p.H86H|TBC1D10A_uc010gvu.2_Silent_p.H181H|TBC1D10A_uc003ahk.3_Silent_p.H174H	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	174	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---
GAL3ST1	9514	broad.mit.edu	37	22	30951416	30951416	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30951416G>A	uc003aig.1	-	4	936	c.796C>T	c.(796-798)CTG>TTG	p.L266L	GAL3ST1_uc003aih.1_Silent_p.L266L|GAL3ST1_uc003aii.1_Silent_p.L266L|GAL3ST1_uc010gvz.1_Silent_p.L266L	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	266	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0																		---	---	---	---
INPP5J	27124	broad.mit.edu	37	22	31524009	31524009	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31524009C>T	uc003aju.3	+	7	1952	c.1860C>T	c.(1858-1860)ATC>ATT	p.I620I	INPP5J_uc003ajv.3_Silent_p.I253I|INPP5J_uc003ajs.3_Silent_p.I253I|INPP5J_uc011alk.1_Silent_p.I553I|INPP5J_uc010gwg.2_Silent_p.I185I|INPP5J_uc003ajw.2_Silent_p.I56I|INPP5J_uc003ajt.3_Silent_p.I252I|INPP5J_uc003ajx.2_5'UTR|INPP5J_uc003ajy.2_5'UTR|INPP5J_uc003ajz.2_Missense_Mutation_p.S10L	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	620	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1																		---	---	---	---
PLA2G3	50487	broad.mit.edu	37	22	31534345	31534345	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31534345G>A	uc003aka.2	-	3	828	c.699C>T	c.(697-699)GGC>GGT	p.G233G		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	233	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0																		---	---	---	---
PISD	23761	broad.mit.edu	37	22	32017120	32017120	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32017120A>G	uc003alm.3	-	6	713	c.706T>C	c.(706-708)TGT>CGT	p.C236R	PISD_uc003alk.2_Missense_Mutation_p.C202R|PISD_uc003all.2_Missense_Mutation_p.C201R|PISD_uc011alr.1_Missense_Mutation_p.C201R|PISD_uc003aln.3_Missense_Mutation_p.C236R	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	236					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32200207	32200207	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32200207A>G	uc003als.2	+	16	1283	c.1141A>G	c.(1141-1143)AAG>GAG	p.K381E	DEPDC5_uc011als.1_Missense_Mutation_p.K381E|DEPDC5_uc011alu.1_Missense_Mutation_p.K381E|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.K381E|DEPDC5_uc003alr.1_Missense_Mutation_p.K381E|DEPDC5_uc011alt.1_Missense_Mutation_p.K353E	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	381					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8																		---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32302427	32302427	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32302427C>T	uc003als.2	+	42	4805	c.4663C>T	c.(4663-4665)CGG>TGG	p.R1555W	DEPDC5_uc011als.1_Missense_Mutation_p.R1486W|DEPDC5_uc011alu.1_Missense_Mutation_p.R1586W|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R1577W|DEPDC5_uc003alu.2_Missense_Mutation_p.R1004W|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.R853W|DEPDC5_uc011alx.1_Missense_Mutation_p.R403W|DEPDC5_uc010gwk.2_3'UTR|DEPDC5_uc011aly.1_Missense_Mutation_p.R403W	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1555					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8																		---	---	---	---
HMOX1	3162	broad.mit.edu	37	22	35783055	35783055	+	Missense_Mutation	SNP	T	A	A	rs140966438		TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35783055T>A	uc003ant.1	+	3	602	c.522T>A	c.(520-522)AGT>AGA	p.S174R		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	174					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)													---	---	---	---
APOL3	80833	broad.mit.edu	37	22	36541536	36541536	+	Missense_Mutation	SNP	G	A	A	rs141517147	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36541536G>A	uc003aot.2	-	2	373	c.335C>T	c.(334-336)GCG>GTG	p.A112V	APOL3_uc003aoq.2_Missense_Mutation_p.A41V|APOL3_uc003aor.2_Missense_Mutation_p.A41V|APOL3_uc003aos.2_Missense_Mutation_p.A41V|APOL3_uc003aou.2_5'UTR|APOL3_uc003aov.2_5'UTR	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	112					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0																		---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37334294	37334294	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37334294T>A	uc003aqa.3	+	14	2661	c.2444T>A	c.(2443-2445)GTC>GAC	p.V815D	CSF2RB_uc003aqc.3_Missense_Mutation_p.V821D	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	815	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)													---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38493197	38493197	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38493197C>T	uc003auw.2	-							NM_025045	NP_079321			BAI1-associated protein 2-like 2						filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)																	---	---	---	---
CSNK1E	1454	broad.mit.edu	37	22	38699261	38699261	+	Intron	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38699261G>A	uc003avj.2	-						CSNK1E_uc003avk.2_Intron|CSNK1E_uc003avl.1_Intron|CSNK1E_uc003avm.1_Intron|CSNK1E_uc003avo.2_Intron|CSNK1E_uc003avp.1_Intron|CSNK1E_uc003avq.1_Intron|LOC400927_uc010gxm.2_Intron	NM_152221	NP_689407			casein kinase 1 epsilon						DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)																	---	---	---	---
KCNJ4	3761	broad.mit.edu	37	22	38823826	38823826	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38823826G>A	uc003avs.1	-	2	409	c.312C>T	c.(310-312)GGC>GGT	p.G104G	KCNJ4_uc003avt.1_Silent_p.G104G	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	104	Poly-Gly.|Val/Gly/Ala/Pro stretch.|Extracellular (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)																	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40066157	40066157	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40066157T>C	uc003ayc.2	+	25	4309	c.4309T>C	c.(4309-4311)TGC>CGC	p.C1437R	CACNA1I_uc003ayd.2_Missense_Mutation_p.C1402R|CACNA1I_uc003aye.2_Missense_Mutation_p.C1352R|CACNA1I_uc003ayf.2_Missense_Mutation_p.C1317R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1437	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)													---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40066850	40066850	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40066850G>A	uc003ayc.2	+	26	4430	c.4430G>A	c.(4429-4431)CGG>CAG	p.R1477Q	CACNA1I_uc003ayd.2_Missense_Mutation_p.R1442Q|CACNA1I_uc003aye.2_Missense_Mutation_p.R1392Q|CACNA1I_uc003ayf.2_Missense_Mutation_p.R1357Q	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1477	Cytoplasmic (Potential).|IV.				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)													---	---	---	---
FAM83F	113828	broad.mit.edu	37	22	40417465	40417465	+	Silent	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40417465T>G	uc003ayk.1	+	4	1045	c.951T>G	c.(949-951)ACT>ACG	p.T317T		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	317										breast(1)	1																		---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40661673	40661673	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40661673C>T	uc011aor.1	+	5	1650	c.1439C>T	c.(1438-1440)ACG>ATG	p.T480M	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.T480M|TNRC6B_uc003ayo.2_Missense_Mutation_p.T284M	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	480					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40815358	40815358	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40815358G>A	uc003ayv.1	-	9	1291	c.1084C>T	c.(1084-1086)CGA>TGA	p.R362*	MKL1_uc003ayw.1_Nonsense_Mutation_p.R362*|MKL1_uc010gye.1_Nonsense_Mutation_p.R362*|MKL1_uc010gyf.1_Nonsense_Mutation_p.R312*	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	362	SAP.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5								T	RBM15	acute megakaryocytic leukemia								---	---	---	---
XPNPEP3	63929	broad.mit.edu	37	22	41322429	41322429	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41322429A>G	uc003azh.2	+	10	1606	c.1514A>G	c.(1513-1515)CAG>CGG	p.Q505R	XPNPEP3_uc003azi.2_Missense_Mutation_p.Q426R|XPNPEP3_uc011aoy.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	505					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0																		---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41716681	41716681	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41716681G>A	uc003azw.2	+	2	233	c.17G>A	c.(16-18)CGG>CAG	p.R6Q	ZC3H7B_uc003azv.1_Missense_Mutation_p.R6Q|ZC3H7B_uc010gyl.1_RNA	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	6					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
SULT4A1	25830	broad.mit.edu	37	22	44234807	44234807	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44234807G>A	uc003bee.1	-	4	564	c.448C>T	c.(448-450)CGG>TGG	p.R150W	SULT4A1_uc003bed.1_Missense_Mutation_p.R71W|SULT4A1_uc003bef.1_RNA|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	150					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)														---	---	---	---
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45210627	45210627	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45210627G>A	uc003bfd.2	+	10	1277	c.1005G>A	c.(1003-1005)AAG>AAA	p.K335K	PRR5-ARHGAP8_uc003bfc.2_Silent_p.K256K|PRR5-ARHGAP8_uc011aqi.1_Silent_p.K247K|PRR5-ARHGAP8_uc011aqj.1_Silent_p.K161K|ARHGAP8_uc003bfi.2_Silent_p.K125K|ARHGAP8_uc010gzv.2_Silent_p.K125K|ARHGAP8_uc003bfj.2_Silent_p.K156K|ARHGAP8_uc003bfk.2_Silent_p.K125K|ARHGAP8_uc003bfl.2_RNA	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2																		---	---	---	---
PHF21B	112885	broad.mit.edu	37	22	45309814	45309814	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45309814G>A	uc003bfn.2	-	5	870	c.719C>T	c.(718-720)ACG>ATG	p.T240M	PHF21B_uc003bfm.2_Missense_Mutation_p.T36M|PHF21B_uc011aqk.1_Missense_Mutation_p.T186M|PHF21B_uc011aql.1_Missense_Mutation_p.T198M|PHF21B_uc011aqm.1_Missense_Mutation_p.T186M	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	240							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)														---	---	---	---
RIBC2	26150	broad.mit.edu	37	22	45818285	45818285	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45818285C>T	uc011aqs.1	+	5	866	c.657C>T	c.(655-657)AGC>AGT	p.S219S		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	151	Potential.										0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)														---	---	---	---
TTC38	55020	broad.mit.edu	37	22	46688787	46688787	+	3'UTR	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46688787C>A	uc003bhi.2	+	14					TTC38_uc011aqx.1_3'UTR	NM_017931	NP_060401			tetratricopeptide repeat domain 38								binding			ovary(1)	1																		---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46765660	46765660	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46765660C>T	uc003bhw.1	-	26	7801	c.7801G>A	c.(7801-7803)GAC>AAC	p.D2601N	CELSR1_uc011arc.1_Missense_Mutation_p.R1066Q	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2601	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
PANX2	56666	broad.mit.edu	37	22	50615711	50615711	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50615711C>T	uc003bjn.3	+	2	570	c.570C>T	c.(568-570)CGC>CGT	p.R190R	PANX2_uc003bjp.3_Silent_p.R56R|PANX2_uc003bjo.3_Silent_p.R190R	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	190	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)														---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50658829	50658829	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50658829C>T	uc003bkb.1	-	16	4471	c.3959G>A	c.(3958-3960)CGG>CAG	p.R1320Q	TUBGCP6_uc003bka.1_Missense_Mutation_p.R407Q|TUBGCP6_uc010har.1_Missense_Mutation_p.R1312Q|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1320					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)														---	---	---	---
IL3RA	3563	broad.mit.edu	37	X	1499988	1499988	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1499988C>T	uc004cps.2	+	11	1402	c.1053C>T	c.(1051-1053)AAC>AAT	p.N351N	IL3RA_uc011mhd.1_Silent_p.N273N	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	351	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		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)			Sargramostim(DB00020)													---	---	---	---
SLC25A6	293	broad.mit.edu	37	X	1506316	1506316	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1506316C>T	uc004cpt.2	-						SLC25A6_uc004cpu.2_Intron	NM_001636	NP_001627			adenine nucleotide translocator 3						active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		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)			Clodronate(DB00720)													---	---	---	---
ASMT	438	broad.mit.edu	37	X	1734092	1734092	+	5'UTR	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1734092G>T	uc004cqd.2	+	2					ASMT_uc010ncy.2_5'UTR|ASMT_uc004cqe.2_5'UTR	NM_004043	NP_004034			acetylserotonin O-methyltransferase						melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		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)																---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3228890	3228890	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3228890C>T	uc004crg.3	-	7	7511	c.7354G>A	c.(7354-7356)GTG>ATG	p.V2452M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2452	Ig-like C2-type 9.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10107587	10107587	+	Intron	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10107587C>T	uc004csx.3	+						WWC3_uc010nds.2_Intron|WWC3_uc010ndt.2_Intron	NM_015691	NP_056506			WWC family member 3											ovary(4)	4																		---	---	---	---
HCCS	3052	broad.mit.edu	37	X	11133052	11133052	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:11133052T>C	uc004cuk.2	+	3	464	c.198T>C	c.(196-198)TGT>TGC	p.C66C	HCCS_uc004cuj.2_Silent_p.C66C|HCCS_uc004cul.1_Silent_p.C66C	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	66					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0																		---	---	---	---
MBTPS2	51360	broad.mit.edu	37	X	21896785	21896785	+	Silent	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21896785A>G	uc004dae.2	+	9	1433	c.1236A>G	c.(1234-1236)GGA>GGG	p.G412G	MBTPS2_uc010nfr.2_Silent_p.G5G	NM_015884	NP_056968	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase,	412	Lumenal (Probable).				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			ovary(1)	1																		---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24760164	24760164	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24760164T>C	uc004dbl.2	+	22	2397	c.2374T>C	c.(2374-2376)TTG>CTG	p.L792L	SCARNA23_uc004dbo.1_5'Flank	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	792					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)													---	---	---	---
OTC	5009	broad.mit.edu	37	X	38271179	38271179	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38271179T>G	uc004def.3	+	9	1146	c.932T>G	c.(931-933)GTG>GGG	p.V311G		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	311					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)													---	---	---	---
CXorf38	159013	broad.mit.edu	37	X	40496296	40496296	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40496296A>T	uc004dew.2	-	4	589	c.584T>A	c.(583-585)ATC>AAC	p.I195N	CXorf38_uc011mko.1_Missense_Mutation_p.I110N|CXorf38_uc004dev.1_Missense_Mutation_p.I76N|CXorf38_uc010nhd.2_RNA	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013	195										ovary(1)	1																		---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47044527	47044527	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47044527C>A	uc004dhf.2	+	18	2403	c.2024C>A	c.(2023-2025)CCT>CAT	p.P675H	RBM10_uc004dhg.2_Missense_Mutation_p.P597H|RBM10_uc004dhh.2_Missense_Mutation_p.P674H|RBM10_uc010nhq.2_Missense_Mutation_p.P598H|RBM10_uc004dhi.2_Missense_Mutation_p.P740H	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	675					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	47663190	47663190	+	IGR	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47663190C>T								LOC100133957 (143414 upstream) : ZNF81 (33111 downstream)																																			---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50053307	50053307	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50053307T>C	uc004dox.3	+	6	2436	c.2138T>C	c.(2137-2139)TTG>TCG	p.L713S	CCNB3_uc004doy.2_Missense_Mutation_p.L713S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	713					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)																	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50054263	50054263	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50054263G>A	uc004dox.3	+	6	3392	c.3094G>A	c.(3094-3096)GCC>ACC	p.A1032T	CCNB3_uc004doy.2_Missense_Mutation_p.A1032T|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1032					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)																	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50130583	50130583	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50130583T>C	uc010njr.1	-	14	2147	c.2087A>G	c.(2086-2088)AAC>AGC	p.N696S		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	696					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)																	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53586338	53586338	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53586338T>C	uc004dsp.2	-	57	8294	c.7892A>G	c.(7891-7893)CAG>CGG	p.Q2631R	HUWE1_uc004dsn.2_Missense_Mutation_p.Q1455R|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2631					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																		---	---	---	---
SPIN2A	54466	broad.mit.edu	37	X	57162586	57162586	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57162586C>A	uc004dvb.2	-	2	816	c.445G>T	c.(445-447)GGG>TGG	p.G149W		NM_019003	NP_061876	Q99865	SPI2A_HUMAN	spindlin family, member 2	149					cell cycle|gamete generation						0																		---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65413405	65413405	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:65413405C>T	uc011moz.1	+	8	1363	c.1303C>T	c.(1303-1305)CGA>TGA	p.R435*	HEPH_uc004dwn.2_Nonsense_Mutation_p.R435*|HEPH_uc004dwo.2_Nonsense_Mutation_p.R165*|HEPH_uc010nkr.2_Nonsense_Mutation_p.R435*|HEPH_uc011mpa.1_Nonsense_Mutation_p.R435*	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	432	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9																		---	---	---	---
NHSL2	340527	broad.mit.edu	37	X	71359790	71359790	+	Missense_Mutation	SNP	C	T	T	rs144260909	byFrequency	TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71359790C>T	uc011mqa.1	+	6	2392	c.2392C>T	c.(2392-2394)CGG>TGG	p.R798W	NHSL2_uc004eak.1_Missense_Mutation_p.R432W|NHSL2_uc010nli.2_Missense_Mutation_p.R567W	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	798											0	Renal(35;0.156)																	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73040758	73040758	+	RNA	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73040758C>T	uc004ebn.2	+	1		c.28719C>T			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0																		---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92927070	92927070	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:92927070C>T	uc004efq.2	-	1	1539	c.1234G>A	c.(1234-1236)GTT>ATT	p.V412I	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	412					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2																		---	---	---	---
CSTF2	1478	broad.mit.edu	37	X	100088274	100088274	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100088274G>A	uc004egh.2	+	11	1371	c.1313G>A	c.(1312-1314)CGT>CAT	p.R438H	CSTF2_uc010nnd.2_Missense_Mutation_p.R458H|CSTF2_uc004egi.2_Missense_Mutation_p.R421H	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	438	6.|12 X 5 AA tandem repeats of M-E-A-R-[AG].				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1																		---	---	---	---
TRMT2B	79979	broad.mit.edu	37	X	100292967	100292967	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100292967A>G	uc004egq.2	-	4	676	c.377T>C	c.(376-378)GTG>GCG	p.V126A	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.V126A|TRMT2B_uc004egs.2_Missense_Mutation_p.V126A|TRMT2B_uc004egt.2_Missense_Mutation_p.V126A|TRMT2B_uc004egu.2_Missense_Mutation_p.V7A|TRMT2B_uc004egv.2_Intron	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	126							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1																		---	---	---	---
ARMCX5	64860	broad.mit.edu	37	X	101857120	101857120	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101857120C>T	uc004ejg.2	+	6	932	c.51C>T	c.(49-51)GGC>GGT	p.G17G	ARMCX5_uc004ejh.2_Silent_p.G17G	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	17							binding			ovary(1)	1																		---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101909665	101909665	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101909665C>A	uc004ejj.3	+	5	1625	c.824C>A	c.(823-825)CCC>CAC	p.P275H	GPRASP1_uc004eji.3_Missense_Mutation_p.P275H|GPRASP1_uc010nod.2_Missense_Mutation_p.P275H	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	275						cytoplasm	protein binding			ovary(1)|lung(1)	2																		---	---	---	---
TCEAL5	340543	broad.mit.edu	37	X	102529176	102529176	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102529176G>A	uc004ejz.1	-	3	611	c.316C>T	c.(316-318)CGC>TGC	p.R106C		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2																		---	---	---	---
BEX2	84707	broad.mit.edu	37	X	102564733	102564733	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102564733C>T	uc004ekb.2	-	3	411	c.172G>A	c.(172-174)GTT>ATT	p.V58I	BEX2_uc004eka.2_Missense_Mutation_p.V87I	NM_032621	NP_116010	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	58					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				ovary(1)	1																		---	---	---	---
RBM41	55285	broad.mit.edu	37	X	106358698	106358698	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106358698C>T	uc004emz.2	-	4	438	c.407G>A	c.(406-408)TGC>TAC	p.C136Y	RBM41_uc004emy.1_Missense_Mutation_p.C136Y	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	136							nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
TSC22D3	1831	broad.mit.edu	37	X	106957913	106957913	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106957913G>A	uc004eng.2	-	3	491	c.241C>T	c.(241-243)CGA>TGA	p.R81*	TSC22D3_uc004enf.2_Nonsense_Mutation_p.R24*|TSC22D3_uc004enh.2_Nonsense_Mutation_p.R147*|TSC22D3_uc004eni.2_Nonsense_Mutation_p.R147*|TSC22D3_uc004enj.2_Nonsense_Mutation_p.R147*	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	81	Leucine-zipper.						sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
KCNE1L	23630	broad.mit.edu	37	X	108868075	108868075	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:108868075C>T	uc004eoh.2	-	1	319	c.175G>A	c.(175-177)GCC>ACC	p.A59T		NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN	potassium voltage-gated channel, Isk-related	59					regulation of heart contraction	voltage-gated potassium channel complex					0																		---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109697380	109697380	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109697380T>G	uc004eor.1	+	3	3781	c.3535T>G	c.(3535-3537)TTT>GTT	p.F1179V	RGAG1_uc011msr.1_Missense_Mutation_p.F1179V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1179										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
LUZP4	51213	broad.mit.edu	37	X	114540853	114540853	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:114540853T>A	uc004eqa.2	+	4	460	c.426T>A	c.(424-426)AAT>AAA	p.N142K	LUZP4_uc004eqb.2_Missense_Mutation_p.N60K	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	142						nucleus				ovary(2)	2																		---	---	---	---
KLHL13	90293	broad.mit.edu	37	X	117043783	117043783	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117043783G>A	uc004eql.2	-	5	909	c.847C>T	c.(847-849)CGA>TGA	p.R283*	KLHL13_uc004eqk.2_Nonsense_Mutation_p.R232*|KLHL13_uc011mtn.1_Nonsense_Mutation_p.R123*|KLHL13_uc011mto.1_Nonsense_Mutation_p.R277*|KLHL13_uc011mtp.1_Nonsense_Mutation_p.R285*|KLHL13_uc004eqm.2_Nonsense_Mutation_p.R232*|KLHL13_uc011mtq.1_Nonsense_Mutation_p.R267*	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	283	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2																		---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117532356	117532356	+	Silent	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117532356C>T	uc004eqn.2	+	8	1622	c.1197C>T	c.(1195-1197)GAC>GAT	p.D399D	WDR44_uc004eqo.2_Silent_p.D399D|WDR44_uc011mtr.1_Silent_p.D374D|WDR44_uc010nqi.2_Silent_p.D109D	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	399						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5																		---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299494	125299494	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125299494G>A	uc004euk.1	-	1	441	c.414C>T	c.(412-414)GAC>GAT	p.D138D		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	138										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
HS6ST2	90161	broad.mit.edu	37	X	132091108	132091108	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132091108G>A	uc011mve.1	-	3	1091	c.675C>T	c.(673-675)GGC>GGT	p.G225G	HS6ST2_uc011mvb.1_Silent_p.G79G|HS6ST2_uc011mvc.1_Silent_p.G79G|HS6ST2_uc011mvd.1_Silent_p.G225G	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	225	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
RBMX	27316	broad.mit.edu	37	X	135956553	135956553	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135956553A>T	uc004fae.1	-	9	1134	c.924T>A	c.(922-924)AGT>AGA	p.S308R	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.1_Missense_Mutation_p.S269R|RBMX_uc004faf.1_Missense_Mutation_p.S169R|RBMX_uc010nsf.1_Missense_Mutation_p.S269R|RBMX_uc004fag.1_Missense_Mutation_p.S180R	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	308						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
FGF13	2258	broad.mit.edu	37	X	137717759	137717759	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:137717759T>C	uc004fam.2	-	4	1122	c.460A>G	c.(460-462)ACA>GCA	p.T154A	FGF13_uc004fan.2_Missense_Mutation_p.T101A|FGF13_uc011mwi.1_Missense_Mutation_p.T135A|FGF13_uc004faq.2_Missense_Mutation_p.T164A|FGF13_uc004far.2_Missense_Mutation_p.T135A|FGF13_uc011mwj.1_Missense_Mutation_p.T164A|FGF13_uc011mwk.1_Missense_Mutation_p.T108A	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	154					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147019098	147019098	+	Silent	SNP	T	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:147019098T>C	uc010nst.2	+	11	1293	c.1104T>C	c.(1102-1104)CCT>CCC	p.P368P	FMR1_uc004fcj.2_Silent_p.P366P|FMR1_uc004fck.3_Silent_p.P368P|FMR1_uc004fcl.3_Silent_p.P229P|FMR1_uc011mxa.1_Silent_p.P36P	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	368					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													Fragile_X_syndrome				---	---	---	---
PRRG3	79057	broad.mit.edu	37	X	150869231	150869231	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150869231G>A	uc004few.1	+	4	812	c.422G>A	c.(421-423)AGC>AAC	p.S141N		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	141	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152135749	152135749	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152135749A>C	uc010ntv.1	+	20	1872	c.1835A>C	c.(1834-1836)AAG>ACG	p.K612T	ZNF185_uc011myg.1_Missense_Mutation_p.K644T|ZNF185_uc011myh.1_Missense_Mutation_p.K615T|ZNF185_uc011myi.1_Missense_Mutation_p.K583T|ZNF185_uc011myj.1_Missense_Mutation_p.K553T|ZNF185_uc011myk.1_Missense_Mutation_p.K613T|ZNF185_uc004fgw.3_Missense_Mutation_p.K391T|ZNF185_uc004fgu.2_Missense_Mutation_p.K241T|ZNF185_uc004fgv.2_Missense_Mutation_p.K309T|ZNF185_uc004fgx.2_Missense_Mutation_p.K250T	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	612						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
RENBP	5973	broad.mit.edu	37	X	153209078	153209078	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153209078G>A	uc004fjo.1	-	5	552	c.382C>T	c.(382-384)CAG>TAG	p.Q128*	RENBP_uc011mzh.1_Nonsense_Mutation_p.Q128*	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	128					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)													---	---	---	---
HCFC1	3054	broad.mit.edu	37	X	153218045	153218045	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153218045G>T	uc004fjp.2	-	19	5390	c.4862C>A	c.(4861-4863)GCT>GAT	p.A1621D		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1621					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153591075	153591075	+	Silent	SNP	G	A	A			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153591075G>A	uc004fkk.2	-	16	2607	c.2358C>T	c.(2356-2358)GCC>GCT	p.A786A	FLNA_uc010nuu.1_Silent_p.A786A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	786	Filamin 6.				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)																	---	---	---	---
EIF1AY	9086	broad.mit.edu	37	Y	22741514	22741514	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5723-01	TCGA-CG-5723-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:22741514C>T	uc004fuk.2	+	2	184	c.37C>T	c.(37-39)CGC>TGC	p.R13C	EIF1AY_uc004ful.2_RNA	NM_004681	NP_004672	O14602	IF1AY_HUMAN	eukaryotic translation initiation factor 1A, Y	13						cytoplasm	protein binding|translation initiation factor activity				0																		---	---	---	---
