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
MXRA8	54587	broad.mit.edu	37	1	1290600	1290600	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1290600delG	uc001aew.2	-						MXRA8_uc001aex.3_Intron|MXRA8_uc001aey.3_Intron|MXRA8_uc010nyl.1_Intron|MXRA8_uc001aez.2_Intron|MXRA8_uc001afa.2_Intron	NM_032348	NP_115724			matrix-remodelling associated 8 precursor							integral to membrane					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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
PLCH2	9651	broad.mit.edu	37	1	2411479	2411479	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2411479delG	uc001aji.1	+						PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	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)														---	---	---	---
PER3	8863	broad.mit.edu	37	1	7845483	7845483	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7845483delT	uc001aoo.2	+						PER3_uc009vmg.1_Intron|PER3_uc009vmh.1_Intron|PER3_uc001aop.2_Intron|PER3_uc010nzw.1_Intron|PER3_uc001aon.2_Intron	NM_016831	NP_058515			period 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17299013	17299014	+	3'UTR	DEL	CA	-	-	rs6661019	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17299013_17299014delCA	uc001azt.2	+	37					CROCC_uc001azu.2_3'UTR|CROCC_uc001azv.2_3'UTR	NM_014675	NP_055490			ciliary rootlet coiled-coil						cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)														---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21175886	21175886	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21175886delT	uc001bec.2	-						EIF4G3_uc010odi.1_Intron|EIF4G3_uc010odj.1_Intron|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Intron|EIF4G3_uc001bef.2_Intron|EIF4G3_uc001bee.2_Intron	NM_003760	NP_003751			eukaryotic translation initiation factor 4						interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---
ECE1	1889	broad.mit.edu	37	1	21553520	21553520	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21553520delT	uc001bek.2	-						ECE1_uc001bem.2_Intron|ECE1_uc001bej.2_Intron|ECE1_uc001bei.2_Intron|ECE1_uc010odl.1_Intron	NM_001397	NP_001388			endothelin converting enzyme 1 isoform 1						bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)														---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22913274	22913274	+	Intron	DEL	G	-	-	rs66713995		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22913274delG	uc001bfx.1	+						EPHA8_uc001bfw.2_Intron	NM_020526	NP_065387			ephrin receptor EphA8 isoform 1 precursor							integral to plasma membrane	ATP binding|ephrin receptor activity			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)														---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23240246	23240246	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23240246delA	uc009vqj.1	+	17	3196	c.3051delA	c.(3049-3051)GGAfs	p.G1017fs	EPHB2_uc001bge.2_3'UTR|EPHB2_uc001bgf.2_3'UTR|EPHB2_uc010odu.1_3'UTR	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	1017	Cytoplasmic (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)										Hereditary_Prostate_Cancer				---	---	---	---
TMEM50A	23585	broad.mit.edu	37	1	25679279	25679279	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:25679279delT	uc001bke.2	+						TMEM50A_uc010oeq.1_Intron|TMEM50A_uc009vrr.2_Intron|TMEM50A_uc009vrs.2_Intron	NM_014313	NP_055128			small membrane protein 1							endoplasmic reticulum|integral to membrane					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;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)														---	---	---	---
EIF3I	8668	broad.mit.edu	37	1	32691629	32691629	+	Intron	DEL	A	-	-	rs74686229		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32691629delA	uc001bur.3	+						EIF3I_uc009vuc.2_Intron|EIF3I_uc001bus.2_Intron	NM_003757	NP_003748			eukaryotic translation initiation factor 3,							cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)																---	---	---	---
EIF2C4	192670	broad.mit.edu	37	1	36282442	36282442	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36282442delA	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)																---	---	---	---
EPHA10	284656	broad.mit.edu	37	1	38185238	38185238	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38185238delG	uc009vvi.2	-	15	2690	c.2604delC	c.(2602-2604)CCCfs	p.P868fs	EPHA10_uc001cbt.2_RNA|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	868	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
RHBDL2	54933	broad.mit.edu	37	1	39361599	39361599	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39361599delT	uc001ccu.1	-						RHBDL2_uc010oin.1_Intron|RHBDL2_uc010oio.1_Intron	NM_017821	NP_060291			rhomboid protease 2						proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39770238	39770239	+	Intron	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39770238_39770239delTT	uc010ois.1	+						MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc009vvq.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222			microfilament and actin filament cross-linker						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)															---	---	---	---
BMP8A	353500	broad.mit.edu	37	1	39988332	39988333	+	Intron	DEL	TG	-	-	rs2252891		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39988332_39988333delTG	uc001cdi.2	+						PPIEL_uc001cdj.1_Intron|PPIEL_uc001cdk.2_Intron	NM_181809	NP_861525			bone morphogenetic protein 8A precursor						cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
KLF17	128209	broad.mit.edu	37	1	44596479	44596480	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44596479_44596480insT	uc001clp.2	+							NM_173484	NP_775755			zinc finger protein 393						regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
Unknown	0	broad.mit.edu	37	1	45245946	45245946	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45245946delT								RPS8 (1535 upstream) : BEST4 (3313 downstream)																																			---	---	---	---
GPBP1L1	60313	broad.mit.edu	37	1	46095127	46095131	+	Intron	DEL	CCCCC	-	-	rs74074404		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46095127_46095131delCCCCC	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)																	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47365870	47365870	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47365870delT	uc001cqo.1	-						CYP4Z2P_uc009vyn.1_Intron	NR_002788				Homo sapiens cDNA FLJ40054 fis, clone TBAES2000315, weakly similar to CYTOCHROME P450 4A1 (EC 1.14.15.3).												0																		---	---	---	---
CYP4A11	1579	broad.mit.edu	37	1	47402625	47402625	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47402625delA	uc001cqp.3	-						CYP4A11_uc001cqq.2_Intron|CYP4A11_uc010omm.1_Intron	NM_000778	NP_000769			cytochrome P450, family 4, subfamily A,						long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)													---	---	---	---
EPS15	2060	broad.mit.edu	37	1	51868089	51868089	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:51868089delA	uc001csq.1	-						EPS15_uc009vyz.1_Intron|EPS15_uc001csp.3_Intron	NM_001981	NP_001972			epidermal growth factor receptor pathway						cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2								T	MLL	ALL								---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59977913	59977913	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:59977913delA	uc001czi.3	+						FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_Intron|FGGY_uc009wac.2_Intron|FGGY_uc001czj.3_Intron|FGGY_uc001czk.3_Intron|FGGY_uc001czl.3_Intron	NM_018291	NP_060761			FGGY carbohydrate kinase domain containing						carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)																	---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60324583	60324583	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60324583delG	uc009wad.2	+						HOOK1_uc001czo.2_Intron|HOOK1_uc001czp.2_Intron|HOOK1_uc010oor.1_Intron	NM_015888	NP_056972			hook homolog 1						early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)																	---	---	---	---
PDE4B	5142	broad.mit.edu	37	1	66828786	66828786	+	Intron	DEL	A	-	-	rs76231394	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66828786delA	uc001dcn.2	+						PDE4B_uc009war.2_Intron|PDE4B_uc001dco.2_Intron|PDE4B_uc001dcp.2_Intron|PDE4B_uc001dcq.2_Intron|PDE4B_uc009was.2_Intron	NM_001037341	NP_001032418			phosphodiesterase 4B isoform 1						signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)													---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76269318	76269318	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76269318delA	uc001dhd.1	+							NM_002440	NP_002431			mutS homolog 4						chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5													MMR					---	---	---	---
AK5	26289	broad.mit.edu	37	1	77763489	77763489	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:77763489delT	uc001dhn.2	+						AK5_uc001dho.2_Intron|AK5_uc001dhm.1_Intron	NM_174858	NP_777283			adenylate kinase 5 isoform 1						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																		---	---	---	---
AK5	26289	broad.mit.edu	37	1	78022664	78022664	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78022664delT	uc001dhn.2	+						AK5_uc001dho.2_Intron	NM_174858	NP_777283			adenylate kinase 5 isoform 1						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																		---	---	---	---
FAM73A	374986	broad.mit.edu	37	1	78313042	78313042	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78313042delA	uc001dhx.2	+						FAM73A_uc010ork.1_Intron|FAM73A_uc010orl.1_Intron|FAM73A_uc001dhy.1_Intron	NM_198549	NP_940951			hypothetical protein LOC374986							integral to membrane				ovary(1)	1				Colorectal(170;0.226)														---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78415121	78415122	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78415121_78415122delAA	uc001dii.2	-						FUBP1_uc001dih.3_Intron|FUBP1_uc010orm.1_Intron	NM_003902	NP_003893			far upstream element-binding protein						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---
MCOLN2	255231	broad.mit.edu	37	1	85412885	85412885	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85412885delA	uc001dkm.2	-						MCOLN2_uc001dkn.2_Intron	NM_153259	NP_694991			mucolipin 2							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)														---	---	---	---
SYDE2	84144	broad.mit.edu	37	1	85624983	85624983	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85624983delA	uc009wcm.2	-							NM_032184	NP_115560			synapse defective 1, Rho GTPase, homolog 2						activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)														---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86362136	86362136	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86362136delT	uc001dlj.2	-						COL24A1_uc001dli.2_Intron|COL24A1_uc010osd.1_Intron|COL24A1_uc001dlk.2_Intron|COL24A1_uc010ose.1_Intron|COL24A1_uc010osf.1_Intron	NM_152890	NP_690850			collagen, type XXIV, alpha 1 precursor						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)														---	---	---	---
HS2ST1	9653	broad.mit.edu	37	1	87570130	87570130	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:87570130delT	uc010osk.1	+						LOC339524_uc001dme.1_Intron	NM_012262	NP_036394			heparan sulfate 2-O-sulfotransferase 1 isoform							Golgi membrane|integral to membrane				central_nervous_system(1)	1		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	91489415	91489415	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91489415delA								ZNF644 (1744 upstream) : HFM1 (236909 downstream)																																			---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91790205	91790205	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91790205delT	uc001doa.3	-						HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Intron|HFM1_uc001dob.3_Intron|HFM1_uc010osv.1_Intron	NM_001017975	NP_001017975			HFM1 protein								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)														---	---	---	---
EVI5	7813	broad.mit.edu	37	1	93198614	93198615	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93198614_93198615delAA	uc001dox.2	-						EVI5_uc010otf.1_Intron	NM_005665	NP_005656			ecotropic viral integration site 5						cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)														---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93667516	93667516	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93667516delA	uc001dpq.2	+	7	1288	c.1120delA	c.(1120-1122)AAAfs	p.K374fs		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	256	Potential.									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)														---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94470795	94470795	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94470795delT	uc001dqh.2	-						ABCA4_uc001dqi.1_Intron	NM_000350	NP_000341			ATP-binding cassette, sub-family A member 4						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)														---	---	---	---
AGL	178	broad.mit.edu	37	1	100361829	100361829	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100361829delT	uc001dsi.1	+						AGL_uc001dsj.1_Intron|AGL_uc001dsk.1_Intron|AGL_uc001dsl.1_Intron|AGL_uc001dsm.1_Intron|AGL_uc001dsn.1_Intron	NM_000642	NP_000633			amylo-1,6-glucosidase,						glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)														---	---	---	---
WDR47	22911	broad.mit.edu	37	1	109560141	109560141	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109560141delT	uc001dwj.2	-	3	617	c.241delA	c.(241-243)AGGfs	p.R81fs	WDR47_uc001dwl.2_Frame_Shift_Del_p.R81fs|WDR47_uc001dwi.2_Frame_Shift_Del_p.R81fs|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.1_Frame_Shift_Del_p.R8fs	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	81	CTLH.									ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)														---	---	---	---
AHCYL1	10768	broad.mit.edu	37	1	110555139	110555139	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110555139delT	uc001dyx.2	+						AHCYL1_uc010ovw.1_Intron|AHCYL1_uc001dyy.2_Intron|AHCYL1_uc010ovx.1_Intron	NM_006621	NP_006612			S-adenosylhomocysteine hydrolase-like 1						one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)														---	---	---	---
CEPT1	10390	broad.mit.edu	37	1	111690320	111690320	+	5'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111690320delA	uc001eah.1	+	2					CEPT1_uc001eag.2_5'UTR|CEPT1_uc001eai.1_5'UTR|CEPT1_uc001eaj.1_5'UTR	NM_001007794	NP_001007795			choline/ethanolaminephosphotransferase							endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding				0		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)													---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113635953	113635953	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113635953delT	uc001edf.1	+						LRIG2_uc009wgn.1_Intron	NM_014813	NP_055628			leucine-rich repeats and immunoglobulin-like							cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)														---	---	---	---
BCL9	607	broad.mit.edu	37	1	147090441	147090442	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147090441_147090442delAA	uc001epq.2	+						BCL9_uc010ozr.1_Intron	NM_004326	NP_004317			B-cell CLL/lymphoma 9						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								---	---	---	---
GPR89B	51463	broad.mit.edu	37	1	147408976	147408976	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147408976delA	uc001epv.3	+						GPR89B_uc010ozs.1_Intron|GPR89B_uc010ozt.1_Intron|GPR89B_uc010ozu.1_Intron|GPR89B_uc001epw.3_Intron|GPR89B_uc010ozv.1_Intron	NM_016334	NP_057418			G protein-coupled receptor 89B						intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity				0	all_hematologic(923;0.0276)																	---	---	---	---
VPS45	11311	broad.mit.edu	37	1	150082514	150082514	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150082514delA	uc001etp.2	+						VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.1_Intron|VPS45_uc010pbs.1_Intron|VPS45_uc001etq.2_Intron	NM_007259	NP_009190			vacuolar protein sorting 45A						blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				central_nervous_system(1)|skin(1)	2	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)															---	---	---	---
ZNF687	57592	broad.mit.edu	37	1	151261079	151261079	+	Frame_Shift_Del	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151261079delC	uc001exq.2	+	3	2289	c.2191delC	c.(2191-2193)CCCfs	p.P731fs	ZNF687_uc009wmo.2_Frame_Shift_Del_p.P731fs|ZNF687_uc009wmp.2_Frame_Shift_Del_p.P731fs	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	731					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)															---	---	---	---
C1orf92	149499	broad.mit.edu	37	1	156902575	156902575	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156902575delT	uc001fqm.2	+						C1orf92_uc001fql.2_Intron	NM_144702	NP_653303			hypothetical protein LOC149499												0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
AIM2	9447	broad.mit.edu	37	1	159032519	159032519	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159032519delA	uc001ftj.1	-							NM_004833	NP_004824			absent in melanoma 2						cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)																	---	---	---	---
CASQ1	844	broad.mit.edu	37	1	160168300	160168300	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160168300delA	uc010pja.1	+							NM_001231	NP_001222			calsequestrin 1							mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
DEDD	9191	broad.mit.edu	37	1	161093741	161093743	+	Intron	DEL	AGG	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161093741_161093743delAGG	uc001fxz.2	-						NIT1_uc001fxw.2_Intron|DEDD_uc009wty.2_Intron|DEDD_uc001fya.2_Intron|DEDD_uc001fyb.2_Intron|DEDD_uc010pkb.1_Intron|DEDD_uc001fyc.2_Intron	NM_001039712	NP_001034801			death effector domain-containing protein						apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)															---	---	---	---
USP21	27005	broad.mit.edu	37	1	161134660	161134660	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161134660delA	uc010pke.1	+	12	1797	c.1420delA	c.(1420-1422)AAAfs	p.K474fs	USP21_uc010pkf.1_Frame_Shift_Del_p.K474fs|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	474					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)															---	---	---	---
Unknown	0	broad.mit.edu	37	1	168180194	168180194	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168180194delA								TIPRL (8845 upstream) : SFT2D2 (15061 downstream)																																			---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168262598	168262598	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168262598delG	uc001gfl.2	+						TBX19_uc001gfj.3_Intron	NM_005149	NP_005140			T-box 19						anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)																	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169839264	169839264	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169839264delA	uc001ggs.2	-						SCYL3_uc010plw.1_Intron|SCYL3_uc001ggt.2_Intron|SCYL3_uc001ggu.2_Intron	NM_181093	NP_851607			SCY1-like 3 isoform 2						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
C1orf129	80133	broad.mit.edu	37	1	170916840	170916840	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:170916840delA	uc001ghg.2	+						C1orf129_uc009wvy.2_Intron|C1orf129_uc010plz.1_Intron	NM_025063	NP_079339			hypothetical protein LOC80133 isoform 2								binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179095896	179095897	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179095896_179095897delAA	uc001gmj.3	-						ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Intron|ABL2_uc009wxe.2_Intron|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Intron|ABL2_uc001gmh.3_Intron|ABL2_uc010pne.1_Intron|ABL2_uc009wxf.1_Intron|ABL2_uc001gmk.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								---	---	---	---
C1orf25	81627	broad.mit.edu	37	1	185088964	185088964	+	3'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185088964delA	uc001grf.3	-	15					C1orf25_uc010pon.1_3'UTR	NM_030934	NP_112196			N2,N2-dimethylguanosine tRNA							intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0																		---	---	---	---
C1orf26	54823	broad.mit.edu	37	1	185240425	185240425	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185240425delC	uc001grg.3	+						C1orf26_uc001grh.3_Intron	NM_001105518	NP_001098988			hypothetical protein LOC54823												0																		---	---	---	---
TPR	7175	broad.mit.edu	37	1	186342610	186342611	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186342610_186342611insA	uc001grv.2	-						C1orf27_uc001grw.2_5'Flank|C1orf27_uc010poq.1_5'Flank|C1orf27_uc010por.1_5'Flank|TPR_uc010pop.1_Intron	NM_003292	NP_003283			nuclear pore complex-associated protein TPR						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201063292	201063292	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201063292delC	uc001gvv.2	-							NM_000069	NP_000060			calcium channel, voltage-dependent, L type,						axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213290507	213290507	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213290507delT	uc010ptr.1	+						RPS6KC1_uc001hkd.2_Intron|RPS6KC1_uc010pts.1_Intron|RPS6KC1_uc010ptt.1_Intron|RPS6KC1_uc010ptu.1_Intron|RPS6KC1_uc010ptv.1_Intron|RPS6KC1_uc001hke.2_Intron	NM_012424	NP_036556			ribosomal protein S6 kinase, 52kDa, polypeptide						cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)														---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220345030	220345030	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220345030delA	uc010puk.1	-						RAB3GAP2_uc001hmf.2_Intron|RAB3GAP2_uc001hmg.2_Intron	NM_012414	NP_036546			rab3 GTPase-activating protein, non-catalytic						intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
EPHX1	2052	broad.mit.edu	37	1	226031970	226031970	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226031970delG	uc001hpk.2	+						EPHX1_uc001hpl.2_Intron	NM_001136018	NP_001129490			epoxide hydrolase 1						aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)																	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229631436	229631436	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229631436delA	uc001htn.2	-							NM_018230	NP_060700			nucleoporin 133kDa						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)																---	---	---	---
LYST	1130	broad.mit.edu	37	1	235892820	235892820	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235892820delA	uc001hxj.2	-						LYST_uc001hxi.2_Intron	NM_000081	NP_000072			lysosomal trafficking regulator						defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---
MTR	4548	broad.mit.edu	37	1	236983888	236983888	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236983888delA	uc001hyi.3	+						MTR_uc010pxw.1_Intron|MTR_uc010pxx.1_Intron|MTR_uc010pxy.1_Intron|MTR_uc009xgj.1_Intron	NM_000254	NP_000245			5-methyltetrahydrofolate-homocysteine						nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
MTR	4548	broad.mit.edu	37	1	237023370	237023380	+	Intron	DEL	CCCCCCCCCCC	-	-	rs72541136		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237023370_237023380delCCCCCCCCCCC	uc001hyi.3	+						MTR_uc010pxw.1_Intron|MTR_uc010pxx.1_Intron|MTR_uc010pxy.1_Intron	NM_000254	NP_000245			5-methyltetrahydrofolate-homocysteine						nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)													---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237863791	237863791	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237863791delT	uc001hyl.1	+						RYR2_uc010pxz.1_Intron	NM_001035	NP_001026			cardiac muscle ryanodine receptor						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241904994	241904994	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241904994delA	uc001hze.1	+						WDR64_uc001hzf.1_Intron					RecName: Full=WD repeat-containing protein 64;											skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)															---	---	---	---
SDCCAG8	10806	broad.mit.edu	37	1	243434124	243434124	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243434124delT	uc001hzw.2	+						SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	NM_006642	NP_006633			serologically defined colon cancer antigen 8						establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	247362765	247362766	+	IGR	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247362765_247362766insA								ZNF124 (27447 upstream) : VN1R5 (56608 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	16361476	16361476	+	IGR	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:16361476delG								MYCN (274348 upstream) : FAM49A (372425 downstream)																																			---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20526999	20527000	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20526999_20527000delAA	uc002rds.1	-						PUM2_uc002rdt.1_Intron|PUM2_uc002rdr.2_Intron|PUM2_uc010yjy.1_Intron|PUM2_uc002rdu.1_Intron|PUM2_uc010yjz.1_Intron	NM_015317	NP_056132			pumilio homolog 2						regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24493518	24493518	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24493518delA	uc002rfe.2	-						ITSN2_uc002rff.2_Intron|ITSN2_uc002rfg.2_Intron	NM_006277	NP_006268			intersectin 2 isoform 1						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24553641	24553641	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24553641delT	uc002rfe.2	-						ITSN2_uc002rff.2_Intron|ITSN2_uc002rfg.2_Intron|ITSN2_uc010eyd.2_Intron	NM_006277	NP_006268			intersectin 2 isoform 1						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25057293	25057293	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25057293delC	uc002rfs.3	-						ADCY3_uc002rfr.3_Intron|ADCY3_uc010ykm.1_Intron	NM_004036	NP_004027			adenylate cyclase 3						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)																	---	---	---	---
C2orf28	51374	broad.mit.edu	37	2	27439690	27439690	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27439690delT	uc002rjf.2	+						C2orf28_uc002rjg.2_Intron|C2orf28_uc002rjh.2_Intron|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	NM_080592	NP_542159			apoptosis related protein 3 isoform b							integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
CAD	790	broad.mit.edu	37	2	27446010	27446010	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27446010delG	uc002rji.2	+						CAD_uc010eyw.2_Intron	NM_004341	NP_004332			carbamoylphosphate synthetase 2/aspartate						'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)													---	---	---	---
KRTCAP3	200634	broad.mit.edu	37	2	27666755	27666755	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27666755delA	uc002rks.2	+						KRTCAP3_uc010ylr.1_Intron|KRTCAP3_uc002rkt.2_Intron	NM_173853	NP_776252			keratinocyte associated protein 3							integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
YPEL5	51646	broad.mit.edu	37	2	30379429	30379429	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30379429delC	uc002rna.3	+						YPEL5_uc002rnb.3_Intron|YPEL5_uc002rnc.3_Intron|YPEL5_uc002rmz.3_Intron|YPEL5_uc010ezn.2_Intron|YPEL5_uc002rnd.2_Intron	NM_001127401	NP_001120873			yippee-like 5								peptide-methionine-(S)-S-oxide reductase activity				0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
SPAST	6683	broad.mit.edu	37	2	32367135	32367136	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32367135_32367136insA	uc002roc.2	+						SPAST_uc002rod.2_Intron	NM_014946	NP_055761			spastin isoform 1						cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32690110	32690110	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32690110delT	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)																	---	---	---	---
EIF2AK2	5610	broad.mit.edu	37	2	37366965	37366966	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37366965_37366966insA	uc010ynh.1	-						EIF2AK2_uc010fab.1_Intron|EIF2AK2_uc010yng.1_Intron|EIF2AK2_uc010fac.2_Intron|EIF2AK2_uc010fad.2_Intron	NM_002759	NP_002750			eukaryotic translation initiation factor 2-alpha						evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)																---	---	---	---
Unknown	0	broad.mit.edu	37	2	41384162	41384162	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:41384162delA								SLC8A1 (644587 upstream) : PKDCC (890999 downstream)																																			---	---	---	---
SRBD1	55133	broad.mit.edu	37	2	45616748	45616748	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45616748delA	uc002rus.2	-						SRBD1_uc010yoc.1_Intron	NM_018079	NP_060549			S1 RNA binding domain 1						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)															---	---	---	---
CALM2	805	broad.mit.edu	37	2	47387990	47388000	+	Intron	DEL	AAAAAAAAAAA	-	-	rs148481675		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47387990_47388000delAAAAAAAAAAA	uc002rvt.2	-						C2orf61_uc010fbd.2_Intron|CALM2_uc010fbe.2_Intron	NM_001743	NP_001734			calmodulin 2						activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)													---	---	---	---
KLRAQ1	129285	broad.mit.edu	37	2	48698212	48698213	+	Intron	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48698212_48698213insC	uc002rwm.2	+						KLRAQ1_uc002rwi.1_Intron|KLRAQ1_uc002rwj.2_Intron|KLRAQ1_uc002rwl.2_Intron|KLRAQ1_uc002rwk.2_Intron|KLRAQ1_uc010yok.1_Intron	NM_001135629	NP_001129101			KLRAQ motif containing 1 isoform 1											ovary(1)	1																		---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48956387	48956387	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48956387delA	uc002rwu.3	-						GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_Intron	NM_000233	NP_000224			luteinizing hormone/choriogonadotropin receptor						male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)									Familial_Male-Limited_Precocious_Puberty				---	---	---	---
MTIF2	4528	broad.mit.edu	37	2	55489677	55489678	+	Intron	INS	-	T	T	rs66500251		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55489677_55489678insT	uc002ryn.2	-						MTIF2_uc010yox.1_Intron|MTIF2_uc002ryo.2_Intron	NM_001005369	NP_001005369			mitochondrial translational initiation factor 2						regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1																		---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55562112	55562112	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55562112delT	uc002ryv.2	-	15	2687	c.1845delA	c.(1843-1845)AAAfs	p.K615fs	CCDC88A_uc010yoz.1_Frame_Shift_Del_p.K615fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.K615fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.K517fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	615	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4																		---	---	---	---
PAPOLG	64895	broad.mit.edu	37	2	61006708	61006708	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61006708delA	uc002sai.2	+						PAPOLG_uc002saj.2_Intron|PAPOLG_uc002sak.2_Intron|PAPOLG_uc010fch.2_5'Flank	NM_022894	NP_075045			poly(A) polymerase gamma						mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)															---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63053199	63053199	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63053199delT	uc002sby.2	+						EHBP1_uc010fcp.2_Intron|EHBP1_uc010fcq.1_Intron|EHBP1_uc002sbx.2_Intron|EHBP1_uc002sbz.2_Intron|EHBP1_uc002scb.2_Intron	NM_015252	NP_056067			EH domain binding protein 1 isoform 1							cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)											Hereditary_Prostate_Cancer				---	---	---	---
NFU1	27247	broad.mit.edu	37	2	69650601	69650601	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69650601delA	uc002sfk.2	-						NFU1_uc002sfj.2_Intron|NFU1_uc002sfl.2_Intron|NFU1_uc002sfm.2_Intron|NFU1_uc010fdi.2_Intron|NFU1_uc002sfn.1_Intron	NM_001002755	NP_001002755			HIRA interacting protein 5 isoform 2						iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding				0																		---	---	---	---
SNRPG	6637	broad.mit.edu	37	2	70516451	70516451	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70516451delA	uc002sgp.2	-						SNRPG_uc002sgo.2_Intron	NM_003096	NP_003087			small nuclear ribonucleoprotein polypeptide G						histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding				0																		---	---	---	---
HK2	3099	broad.mit.edu	37	2	75081242	75081242	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75081242delT	uc002snd.2	+							NM_000189	NP_000180			hexokinase 2						apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2																		---	---	---	---
FLJ40330	645784	broad.mit.edu	37	2	89083942	89083942	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89083942delT	uc010fhf.2	+						FLJ40330_uc010fhg.2_Intron|FLJ40330_uc010fhh.2_Intron					Homo sapiens mRNA; cDNA DKFZp434J1630 (from clone DKFZp434J1630).												0																		---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96966575	96966575	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96966575delT	uc002svu.2	-							NM_014014	NP_054733			activating signal cointegrator 1 complex subunit							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																		---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98451037	98451038	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98451037_98451038delAA	uc002syh.3	-						TMEM131_uc010yvg.1_Intron	NM_015348	NP_056163			RW1 protein							integral to membrane				ovary(4)|central_nervous_system(2)	6																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	105387605	105387605	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:105387605delA								LOC150568 (258391 upstream) : POU3F3 (84364 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	106863863	106863863	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106863863delA								UXS1 (53068 upstream) : PLGLA (138906 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	114425377	114425377	+	IGR	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114425377delG								RABL2A (24403 upstream) : SLC35F5 (46554 downstream)																																			---	---	---	---
FAM123C	205147	broad.mit.edu	37	2	131521308	131521308	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131521308delG	uc002trw.2	+	2	1853	c.1663delG	c.(1663-1665)GGGfs	p.G555fs	FAM123C_uc010fmv.2_Frame_Shift_Del_p.G555fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G555fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G555fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G555fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	555										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)														---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133971293	133971293	+	Frame_Shift_Del	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133971293delC	uc002ttp.2	-	5	576	c.202delG	c.(202-204)GCCfs	p.A68fs	NCKAP5_uc002ttq.2_Frame_Shift_Del_p.A68fs|NCKAP5_uc002ttt.1_Frame_Shift_Del_p.A68fs|NCKAP5_uc002tts.1_Frame_Shift_Del_p.A43fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	68							protein binding				0																		---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135887668	135887668	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135887668delT	uc002tuj.2	+						RAB3GAP1_uc010fnf.2_Intron|RAB3GAP1_uc010fng.2_Intron|RAB3GAP1_uc010fnh.1_Intron	NM_012233	NP_036365			RAB3 GTPase-activating protein							centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	136023068	136023068	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136023068delA	uc002tum.2	-						ZRANB3_uc002tuk.2_Intron|ZRANB3_uc002tul.2_Intron	NM_032143	NP_115519			zinc finger, RAN-binding domain containing 3							intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)														---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	136103039	136103039	+	Intron	DEL	A	-	-	rs113439308		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136103039delA	uc002tum.2	-						ZRANB3_uc002tuk.2_Intron|ZRANB3_uc002tul.2_Intron|ZRANB3_uc002tun.1_Intron	NM_032143	NP_115519			zinc finger, RAN-binding domain containing 3							intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)														---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144276715	144276716	+	Intron	INS	-	A	A	rs148946445	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:144276715_144276716insA	uc002tvm.3	+						ARHGAP15_uc002tvn.2_Intron	NM_018460	NP_060930			ARHGAP15						regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)														---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:148683686delA	uc002twg.2	+	11	1572	c.1303delA	c.(1303-1305)AAAfs	p.K435fs	ACVR2A_uc010zbn.1_Frame_Shift_Del_p.K327fs|ACVR2A_uc002twh.2_Frame_Shift_Del_p.K435fs	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	435	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)														---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152331352	152331352	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152331352delT	uc002txm.2	+						RIF1_uc002txl.2_Intron|RIF1_uc002txn.2_Intron|RIF1_uc002txo.2_Intron|RIF1_uc002txp.2_Intron|uc010fnw.1_5'Flank	NM_018151	NP_060621			RAP1 interacting factor 1						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)														---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153515881	153515881	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153515881delA	uc002tyh.3	-						PRPF40A_uc002tyg.3_Intron|PRPF40A_uc010zcd.1_Intron	NM_017892	NP_060362			formin binding protein 3						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0																		---	---	---	---
CYTIP	9595	broad.mit.edu	37	2	158291362	158291365	+	Intron	DEL	CACA	-	-	rs113623090		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158291362_158291365delCACA	uc002tzj.1	-						CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279			cytohesin 1 interacting protein						regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159537313	159537313	+	3'UTR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159537313delT	uc002tzv.2	+	22					PKP4_uc002tzw.2_3'UTR|PKP4_uc002tzx.2_3'UTR|PKP4_uc002uaa.2_3'UTR|uc002uab.1_Intron|PKP4_uc002uac.2_3'UTR|PKP4_uc002uad.2_RNA	NM_003628	NP_003619			plakophilin 4 isoform a						cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7															HNSCC(62;0.18)			---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160813055	160813055	+	Frame_Shift_Del	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160813055delC	uc002ube.1	-	21	3195	c.2988delG	c.(2986-2988)GGGfs	p.G996fs	PLA2R1_uc010zcp.1_Frame_Shift_Del_p.G996fs|PLA2R1_uc002ubf.2_Frame_Shift_Del_p.G996fs	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	996	Extracellular (Potential).|C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3																		---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171850598	171850598	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171850598delA	uc002ugn.2	-						TLK1_uc002ugo.2_Intron|TLK1_uc002ugp.2_Intron|TLK1_uc010zdn.1_Intron	NM_012290	NP_036422			tousled-like kinase 1 isoform 1						cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---
ANKAR	150709	broad.mit.edu	37	2	190541314	190541315	+	5'Flank	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190541314_190541315insT	uc002uqw.1	+						ANKAR_uc002uqu.2_Intron|ANKAR_uc002uqv.1_Frame_Shift_Ins_p.A33fs	NM_144708	NP_653309			ankyrin and armadillo repeat containing							integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)															---	---	---	---
MFSD6	54842	broad.mit.edu	37	2	191334473	191334473	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191334473delT	uc002urz.2	+						MFSD6_uc010zge.1_Intron	NM_017694	NP_060164			major facilitator superfamily domain containing						transmembrane transport	integral to membrane				ovary(2)	2																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196756303	196756303	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196756303delA	uc002utj.3	-							NM_018897	NP_061720			dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
SUMO1	7341	broad.mit.edu	37	2	203079026	203079027	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203079026_203079027delAA	uc002uyz.1	-						SUMO1_uc002uza.1_Intron	NM_001005781	NP_001005781			SMT3 suppressor of mif two 3 homolog 1 isoform a						DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding				0																		---	---	---	---
BMPR2	659	broad.mit.edu	37	2	203332384	203332384	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203332384delT	uc002uzf.3	+	3	1538	c.390delT	c.(388-390)AATfs	p.N130fs	BMPR2_uc010ftr.2_Frame_Shift_Del_p.N130fs|BMPR2_uc002uze.2_Frame_Shift_Del_p.N130fs	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	130	Extracellular (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	206813755	206813755	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206813755delA								NRP2 (150899 upstream) : INO80D (44691 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	206980715	206980715	+	RNA	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206980715delT	uc002vbc.1	-	1		c.1574delA								Homo sapiens cDNA FLJ35491 fis, clone SMINT2008625, moderately similar to GLYCINE CLEAVAGE SYSTEM H PROTEIN PRECURSOR.																														---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210887679	210887680	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210887679_210887680insT	uc002vds.2	-	15	3165_3166	c.2957_2958insA	c.(2956-2958)AATfs	p.N986fs	C2orf67_uc002vdt.2_Frame_Shift_Ins_p.N944fs	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	986										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212495013	212495013	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212495013delT	uc002veg.1	-						ERBB4_uc002veh.1_Intron|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Intron	NM_005235	NP_005226			v-erb-a erythroblastic leukemia viral oncogene						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---
FN1	2335	broad.mit.edu	37	2	216257520	216257520	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216257520delC	uc002vfa.2	-						FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Intron|FN1_uc002vfe.2_Intron|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Intron|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_Intron	NM_212482	NP_997647			fibronectin 1 isoform 1 preproprotein						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)													---	---	---	---
SERPINE2	5270	broad.mit.edu	37	2	224866695	224866695	+	Intron	DEL	T	-	-	rs10706128		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224866695delT	uc002vnu.2	-						SERPINE2_uc002vnt.2_Intron|SERPINE2_uc010zlr.1_Intron|SERPINE2_uc002vnv.2_Intron	NM_006216	NP_006207			plasminogen activator inhibitor type 1, member 2						negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)														---	---	---	---
NCL	4691	broad.mit.edu	37	2	232325998	232325998	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232325998delA	uc002vru.2	-						SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372			nucleolin						angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)														---	---	---	---
PTMA	5757	broad.mit.edu	37	2	232577587	232577587	+	3'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232577587delA	uc002vsc.3	+	5					PTMA_uc002vsb.3_3'UTR|PTMA_uc010zmf.1_RNA|MIR1244_hsa-mir-1244-1|MI0006379_5'Flank	NM_001099285	NP_001092755			prothymosin, alpha isoform 1						transcription, DNA-dependent	nucleus					0		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)														---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233756330	233756331	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233756330_233756331insT	uc002vts.2	-						NGEF_uc010zmm.1_Intron|NGEF_uc010fyg.1_Intron	NM_019850	NP_062824			neuronal guanine nucleotide exchange factor						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)														---	---	---	---
NGEF	25791	broad.mit.edu	37	2	233784911	233784911	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233784911delC	uc002vts.2	-						NGEF_uc010fyg.1_Intron|NGEF_uc002vtt.2_Intron	NM_019850	NP_062824			neuronal guanine nucleotide exchange factor						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)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	241992108	241992112	+	Intron	DEL	GGGGG	-	-	rs72462767		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241992108_241992112delGGGGG	uc002wah.1	+							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)														---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9034599_9034600insC	uc003brf.1	-	20	3224_3225	c.2548_2549insG	c.(2548-2550)GTGfs	p.V850fs	SRGAP3_uc003brg.1_Frame_Shift_Ins_p.V826fs	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)				T	RAF1	pilocytic astrocytoma								---	---	---	---
Unknown	0	broad.mit.edu	37	3	36810381	36810381	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:36810381delT								DCLK3 (29029 upstream) : TRANK1 (57930 downstream)																																			---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42659250	42659250	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42659250delA	uc003clo.2	+						NKTR_uc003cll.1_Intron|NKTR_uc003clm.1_Intron|NKTR_uc003clp.2_Intron|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_5'Flank	NM_005385	NP_005376			natural killer-tumor recognition sequence						protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)														---	---	---	---
ZDHHC3	51304	broad.mit.edu	37	3	44979483	44979483	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44979483delT	uc003cod.2	-						ZDHHC3_uc003cog.2_Intron|ZDHHC3_uc011bad.1_Intron	NM_016598	NP_057682			zinc finger, DHHC-type containing 3 isoform 2							Golgi membrane|integral to membrane	zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)														---	---	---	---
FBXW12	285231	broad.mit.edu	37	3	48420120	48420122	+	Intron	DEL	TTG	-	-	rs9311422	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48420120_48420122delTTG	uc003csr.2	+						FBXW12_uc010hjv.2_Intron|FBXW12_uc003css.2_Intron|FBXW12_uc010hjw.2_Intron	NM_207102	NP_996985			F-box and WD repeat domain containing 12 isoform												0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
C3orf62	375341	broad.mit.edu	37	3	49308392	49308392	+	3'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49308392delA	uc003cwn.2	-	3					C3orf62_uc003cwm.2_3'UTR	NM_198562	NP_940964			hypothetical protein LOC375341												0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
AMIGO3	386724	broad.mit.edu	37	3	49755272	49755272	+	3'UTR	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49755272delG	uc003cxj.2	-	1					RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015			adhesion molecule with Ig-like domain 3						heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51417604delC	uc011bds.1	+	52	5572	c.5549delC	c.(5548-5550)ACCfs	p.T1850fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	54872838	54872838	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54872838delT	uc003dhf.2	+						CACNA2D3_uc011beu.1_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron|CACNA2D3_uc010hmv.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)														---	---	---	---
SLMAP	7871	broad.mit.edu	37	3	57843749	57843749	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57843749delT	uc003dje.1	+						SLMAP_uc003djc.1_Intron|SLMAP_uc003djd.1_Intron|SLMAP_uc003djf.1_Intron	NM_007159	NP_009090			sarcolemma associated protein						muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)														---	---	---	---
FHIT	2272	broad.mit.edu	37	3	59999605	59999605	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:59999605delT	uc003dkx.3	-						FHIT_uc003dky.2_Intron|FHIT_uc010hnn.1_Intron	NM_002012	NP_002003			fragile histidine triad gene						nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding				0		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)				T	HMGA2	pleomorphic salivary gland adenoma				Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				---	---	---	---
Unknown	0	broad.mit.edu	37	3	89000105	89000105	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89000105delA								C3orf38 (792992 upstream) : EPHA3 (156569 downstream)																																			---	---	---	---
MINA	84864	broad.mit.edu	37	3	97669754	97669754	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97669754delA	uc003drz.1	-						MINA_uc003dry.1_5'Flank|MINA_uc003dsa.1_Intron|MINA_uc003dsb.1_Intron|MINA_uc003dsc.1_Intron|MINA_uc010hpa.1_Intron	NM_001042533	NP_001035998			MYC induced nuclear antigen isoform a						ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	97941193	97941194	+	IGR	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97941193_97941194insT								OR5H15 (52710 upstream) : OR5H6 (41935 downstream)																																			---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100595247	100595247	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100595247delA	uc003dun.2	-						ABI3BP_uc003duo.2_Intron|ABI3BP_uc003dup.3_Intron	NM_015429	NP_056244			ABI gene family, member 3 (NESH) binding protein							extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4																		---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100945979	100945979	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100945979delA	uc003duq.1	-						IMPG2_uc011bhe.1_Intron	NM_016247	NP_057331			interphotoreceptor matrix proteoglycan 2						visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---
NFKBIZ	64332	broad.mit.edu	37	3	101574840	101574840	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101574840delT	uc003dvp.2	+						NFKBIZ_uc003dvo.2_Intron|NFKBIZ_uc010hpo.2_Intron|NFKBIZ_uc003dvq.2_Intron	NM_031419	NP_113607			nuclear factor of kappa light polypeptide gene						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2																		---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108133346	108133346	+	Intron	DEL	T	-	-	rs79578015		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108133346delT	uc003dxa.1	-							NM_014981	NP_055796			myosin, heavy polypeptide 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7																		---	---	---	---
BTLA	151888	broad.mit.edu	37	3	112218320	112218323	+	5'UTR	DEL	AAAA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112218320_112218323delAAAA	uc003dza.3	-	1					BTLA_uc003dzb.3_5'UTR	NM_181780	NP_861445			B and T lymphocyte associated isoform 1						T cell costimulation		receptor activity				0		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)																---	---	---	---
CD200R1	131450	broad.mit.edu	37	3	112647596	112647596	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112647596delT	uc003dzk.1	-						CD200R1_uc003dzj.1_Intron|CD200R1_uc011bhx.1_Intron	NM_170780	NP_740750			CD200 receptor 1 isoform d						interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113699790	113699791	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113699790_113699791delAA	uc003eax.2	-						KIAA1407_uc011bin.1_Intron	NM_020817	NP_065868			hypothetical protein LOC57577											ovary(2)	2																		---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	121001056	121001056	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121001056delT	uc003eec.3	+						STXBP5L_uc011bji.1_Intron	NM_014980	NP_055795			syntaxin binding protein 5-like						exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126735762	126735762	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126735762delC	uc003ejg.2	+							NM_032242	NP_115618			plexin A1						axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130711967	130711967	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130711967delT	uc003enl.2	+						ATP2C1_uc011blg.1_Intron|ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enk.2_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003eno.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enq.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ATP2C1_uc003enu.2_Intron	NM_014382	NP_055197			calcium-transporting ATPase 2C1 isoform 1a						actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)									Hailey-Hailey_disease				---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136139796	136139797	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136139796_136139797insT	uc003era.1	-						STAG1_uc003erb.1_Intron|STAG1_uc003erc.1_Intron|STAG1_uc010hua.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																		---	---	---	---
CLDN18	51208	broad.mit.edu	37	3	137750034	137750035	+	3'UTR	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137750034_137750035insA	uc003ero.1	+	5					CLDN18_uc003erp.1_3'UTR|CLDN18_uc010hue.1_3'UTR	NM_001002026	NP_001002026			claudin 18 isoform 2						calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138474573	138474574	+	Intron	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138474573_138474574delTT	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																		---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141724321	141724321	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141724321delT	uc003eun.3	-	4	527	c.148delA	c.(148-150)ACCfs	p.T50fs	TFDP2_uc010hur.2_5'UTR|TFDP2_uc003eul.3_5'UTR|TFDP2_uc011bnf.1_5'UTR|TFDP2_uc011bng.1_Intron|TFDP2_uc003eum.3_5'UTR|TFDP2_uc003euo.2_RNA	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	50					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	142895211	142895211	+	IGR	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142895211delG								CHST2 (53401 upstream) : SLC9A9 (88854 downstream)																																			---	---	---	---
PLSCR5	389158	broad.mit.edu	37	3	146309456	146309456	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:146309456delA	uc003ewb.2	-						PLSCR5_uc010hvb.2_Intron|PLSCR5_uc010hvc.2_Intron	NM_001085420	NP_001078889			phospholipid scramblase family, member 5												0																		---	---	---	---
FAM194A	131831	broad.mit.edu	37	3	150403420	150403420	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150403420delT	uc003eyg.2	-						FAM194A_uc003eyh.2_Intron	NM_152394	NP_689607			hypothetical protein LOC131831											skin(2)|ovary(1)	3																		---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167170830	167170830	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167170830delA	uc003fer.1	-						SERPINI2_uc003fes.1_Intron|SERPINI2_uc003fet.1_Intron	NM_006217	NP_006208			serpin peptidase inhibitor, clade I (pancpin),						cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3																		---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167254794	167254794	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167254794delA	uc003fev.1	-						WDR49_uc003feu.1_Intron|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146			WD repeat domain 49											large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
TBL1XR1	79718	broad.mit.edu	37	3	176769266	176769266	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:176769266delA	uc003fiw.3	-						TBL1XR1_uc003fix.3_Intron|TBL1XR1_uc011bpz.1_Intron	NM_024665	NP_078941			transducin (beta)-like 1 X-linked receptor 1						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)															---	---	---	---
Unknown	0	broad.mit.edu	37	3	180863907	180863907	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180863907delA								DNAJC19 (156377 upstream) : SOX2OT (417602 downstream)																																			---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183436187	183436187	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183436187delT	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)															---	---	---	---
PIGX	54965	broad.mit.edu	37	3	196458053	196458054	+	Intron	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196458053_196458054delTT	uc010iaj.2	+						PIGX_uc003fwx.3_Intron|PIGX_uc011btx.1_Intron	NM_017861	NP_060331			phosphatidylinositol glycan anchor biosynthesis,						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)														---	---	---	---
HTT	3064	broad.mit.edu	37	4	3227435	3227436	+	Frame_Shift_Ins	INS	-	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3227435_3227436insG	uc011bvq.1	+	58	7964_7965	c.7819_7820insG	c.(7819-7821)CGGfs	p.R2607fs		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2605					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)														---	---	---	---
ZBTB49	166793	broad.mit.edu	37	4	4307962	4307962	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:4307962delT	uc003ghu.2	+						ZBTB49_uc003ghv.2_Intron|ZBTB49_uc010icy.2_Intron|ZBTB49_uc010icz.2_Intron	NM_145291	NP_660334			zinc finger protein 509						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5633295	5633295	+	Intron	DEL	G	-	-	rs113488613		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5633295delG	uc003gij.2	-						EVC2_uc011bwb.1_Intron|EVC2_uc003gik.2_Intron	NM_147127	NP_667338			limbin							integral to membrane				large_intestine(3)|ovary(2)	5																		---	---	---	---
CC2D2A	57545	broad.mit.edu	37	4	15601172	15601172	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15601172delA	uc010idv.2	+	37	4762	c.4517delA	c.(4516-4518)GAAfs	p.E1506fs	CC2D2A_uc003gnx.2_Frame_Shift_Del_p.E1398fs|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1506					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20526748	20526748	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20526748delT	uc003gpr.1	+						SLIT2_uc003gps.1_Intron	NM_004787	NP_004778			slit homolog 2 precursor						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27009063	27009064	+	Intron	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:27009063_27009064delTT	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)																---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39347147	39347147	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39347147delT	uc003gty.1	-						RFC1_uc003gtx.1_Intron|RFC1_uc003gtz.1_Intron	NM_002913	NP_002904			replication factor C large subunit						DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	4	49504977	49504977	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:49504977delT								CWH43 (440884 upstream) : None (None downstream)																																			---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	54308680	54308680	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54308680delT	uc003haa.2	+						FIP1L1_uc003gzy.2_Intron|FIP1L1_uc011bzu.1_Intron|FIP1L1_uc003gzz.2_Intron|FIP1L1_uc003hab.2_Intron|FIP1L1_uc003hac.2_Intron|FIP1L1_uc010ign.2_Intron|FIP1L1_uc003had.2_Intron|FIP1L1_uc003hae.2_Intron	NM_006206	NP_006197			platelet-derived growth factor receptor alpha						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)			---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55143998	55143998	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55143998delT	uc003han.3	+						PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_Intron|PDGFRA_uc003hao.1_Intron	NM_006206	NP_006197			platelet-derived growth factor receptor alpha						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)			---	---	---	---
C4orf14	84273	broad.mit.edu	37	4	57839652	57839653	+	Intron	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57839652_57839653delTT	uc003hck.2	-							NM_032313	NP_115689			hypothetical protein LOC84273								GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---
Unknown	0	broad.mit.edu	37	4	69444612	69444612	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69444612delT								YTHDC1 (228788 upstream) : UGT2B15 (67704 downstream)																																			---	---	---	---
CCNG2	901	broad.mit.edu	37	4	78081685	78081686	+	Intron	DEL	GG	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:78081685_78081686delGG	uc003hkq.3	+						CCNG2_uc003hkn.3_Intron|CCNG2_uc011ccc.1_Intron|CCNG2_uc003hkp.3_Intron	NM_004354	NP_004345			cyclin G2						cell cycle checkpoint|cell division|mitosis	cytoplasm				ovary(2)|lung(1)	3																		---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85605439	85605439	+	Intron	DEL	A	-	-	rs35512337		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85605439delA	uc003hpd.2	-						WDFY3_uc003hpc.2_5'Flank	NM_014991	NP_055806			WD repeat and FYVE domain containing 3 isoform							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)														---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85701066	85701066	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85701066delA	uc003hpd.2	-							NM_014991	NP_055806			WD repeat and FYVE domain containing 3 isoform							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)														---	---	---	---
MAPK10	5602	broad.mit.edu	37	4	86952500	86952500	+	Intron	DEL	T	-	-	rs67327936		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86952500delT	uc003hpq.2	-						MAPK10_uc010ikg.2_Intron|MAPK10_uc003hpr.2_Intron|MAPK10_uc003hps.2_Intron|MAPK10_uc003hpt.2_Intron|MAPK10_uc003hpu.2_Intron|MAPK10_uc003hpv.2_Intron|MAPK10_uc003hpn.2_Intron|MAPK10_uc003hpo.2_Intron|MAPK10_uc011ccw.1_Intron|MAPK10_uc003hpp.2_Intron	NM_138982	NP_620448			mitogen-activated protein kinase 10 isoform 2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			stomach(1)|breast(1)|central_nervous_system(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)														---	---	---	---
ATOH1	474	broad.mit.edu	37	4	94750011	94750011	+	5'Flank	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:94750011delT	uc003hta.1	+							NM_005172	NP_005163			atonal homolog 1						transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)														---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95200318	95200318	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95200318delT	uc003htc.3	+						SMARCAD1_uc003htb.3_Intron|SMARCAD1_uc003htd.3_Intron|SMARCAD1_uc010ila.2_Intron|SMARCAD1_uc011cdw.1_Intron	NM_020159	NP_064544			SWI/SNF-related, matrix-associated						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)														---	---	---	---
PDLIM5	10611	broad.mit.edu	37	4	95494468	95494468	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95494468delT	uc003hti.2	+						PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Intron	NM_006457	NP_006448			PDZ and LIM domain 5 isoform a						regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)														---	---	---	---
ARHGEF38	54848	broad.mit.edu	37	4	106510611	106510611	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106510611delT	uc003hxu.2	+							NM_017700	NP_060170			hypothetical protein LOC54848						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|breast(1)	3																		---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119665329	119665329	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119665329delA	uc003ici.3	-						SEC24D_uc003ich.3_Intron|SEC24D_uc003icj.3_Intron|SEC24D_uc003icl.2_Intron	NM_014822	NP_055637			Sec24-related protein D						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	zinc ion binding				0																		---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122765171	122765171	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122765171delA	uc003ied.2	-						BBS7_uc003iee.1_Intron	NM_176824	NP_789794			Bardet-Biedl syndrome 7 protein isoform a						cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123111049	123111049	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123111049delT	uc003ieh.2	+						KIAA1109_uc003iei.1_Intron	NM_015312	NP_056127			fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123270296	123270296	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123270296delT	uc003ieh.2	+						KIAA1109_uc003iem.2_Intron	NM_015312	NP_056127			fragile site-associated protein						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
HSPA4L	22824	broad.mit.edu	37	4	128724724	128724724	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128724724delT	uc003ifm.2	+						HSPA4L_uc010iny.1_Intron|HSPA4L_uc011cgr.1_Intron	NM_014278	NP_055093			heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144451491	144451491	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144451491delT	uc003ijg.2	+							NM_003601	NP_003592			SWI/SNF-related matrix-associated						CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)																	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146463876	146463876	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146463876delT	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)																	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151818811	151818811	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151818811delA	uc010ipj.2	-						LRBA_uc003ilu.3_Intron|LRBA_uc010ipk.1_Intron	NM_006726	NP_006717			LPS-responsive vesicle trafficking, beach and							endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)																	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160251797	160251797	+	Intron	DEL	A	-	-	rs78225051		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160251797delA	uc003iqg.3	+							NM_014247	NP_055062			Rap guanine nucleotide exchange factor 2						cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162459456	162459456	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:162459456delA	uc003iqh.2	-						FSTL5_uc003iqi.2_Intron|FSTL5_uc010iqv.2_Intron	NM_020116	NP_064501			follistatin-like 5 isoform a							extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)														---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166215663	166215664	+	Intron	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166215663_166215664delTT	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)														---	---	---	---
Unknown	0	broad.mit.edu	37	4	166585868	166585868	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166585868delA								CPE (166387 upstream) : TLL1 (208542 downstream)																																			---	---	---	---
C4orf27	54969	broad.mit.edu	37	4	170663060	170663060	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170663060delA	uc003isl.3	-							NM_017867	NP_060337			hypothetical protein LOC54969							nucleus				ovary(1)|pancreas(1)	2		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)														---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177142205	177142205	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177142205delT	uc003iuq.1	-						ASB5_uc003iup.1_Intron	NM_080874	NP_543150			ankyrin repeat and SOCS box-containing protein						intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)														---	---	---	---
AHRR	57491	broad.mit.edu	37	5	353788	353789	+	Intron	INS	-	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:353788_353789insG	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)															---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	474876	474876	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:474876delG	uc003jbe.2	-						SLC9A3_uc011clx.1_Intron|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	NM_004174	NP_004165			solute carrier family 9 (sodium/hydrogen							cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)															---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1065683	1065683	+	Intron	DEL	A	-	-	rs56078134	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1065683delA	uc003jbu.2	-							NM_006598	NP_006589			solute carrier family 12 (potassium/chloride						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)													---	---	---	---
TERT	7015	broad.mit.edu	37	5	1294898	1294898	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1294898delG	uc003jcb.1	-	1	265	c.207delC	c.(205-207)CCCfs	p.P69fs	TERT_uc003jca.1_Frame_Shift_Del_p.P69fs|TERT_uc003jcc.1_Frame_Shift_Del_p.P69fs|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	69	RNA-interacting domain 1.|GQ motif.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)											TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				---	---	---	---
CCT5	22948	broad.mit.edu	37	5	10250036	10250047	+	5'Flank	DEL	AAAAAAAAAAAC	-	-	rs57941186	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10250036_10250047delAAAAAAAAAAAC	uc003jeq.2	+						FAM173B_uc003jeo.2_5'Flank|FAM173B_uc003jep.2_5'Flank|FAM173B_uc010itr.2_5'Flank|CCT5_uc011cmq.1_5'Flank|CCT5_uc003jer.2_5'Flank|CCT5_uc010its.2_5'Flank|CCT5_uc011cmr.1_5'Flank|CCT5_uc011cms.1_5'Flank|CCT5_uc011cmt.1_5'Flank	NM_012073	NP_036205			chaperonin containing TCP1, subunit 5 (epsilon)						'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2																		---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14388901	14388902	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14388901_14388902insT	uc003jff.2	+						TRIO_uc003jfg.2_Intron|TRIO_uc011cna.1_Intron|TRIO_uc003jfh.1_Intron	NM_007118	NP_009049			triple functional domain (PTPRF interacting)						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|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
Unknown	0	broad.mit.edu	37	5	14640306	14640306	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14640306delT								FAM105A (24021 upstream) : FAM105B (24477 downstream)																																			---	---	---	---
FAM134B	54463	broad.mit.edu	37	5	16508736	16508738	+	Intron	DEL	AAT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16508736_16508738delAAT	uc003jfs.2	-						FAM134B_uc003jfr.2_5'UTR	NM_001034850	NP_001030022			hypothetical protein LOC54463 isoform 1						sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	5	32888053	32888053	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32888053delT								C5orf23 (96234 upstream) : TARS (552749 downstream)																																			---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33938339	33938339	+	3'UTR	DEL	G	-	-	rs3832336		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33938339delG	uc003jic.1	+	1						NM_016568	NP_057652			relaxin/insulin-like family peptide receptor 3							integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35807214	35807214	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35807214delT	uc003jjo.2	+						SPEF2_uc003jjp.1_Intron|SPEF2_uc003jjr.2_Intron	NM_024867	NP_079143			KPL2 protein isoform 1						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)															---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38958957	38958957	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38958957delA	uc003jlp.2	-						RICTOR_uc003jlo.2_Intron|RICTOR_uc010ivf.2_Intron	NM_152756	NP_689969			rapamycin-insensitive companion of mTOR						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)																	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52397784	52397784	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52397784delA	uc011cqf.1	-						MOCS2_uc003joz.2_Intron	NM_176806	NP_789776			molybdopterin synthase small subunit MOCS2A						Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding				0		Lung NSC(810;3.08e-05)|Breast(144;0.0848)																---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55168250	55168251	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55168250_55168251delAT	uc003jql.2	+	4	490_491	c.425_426delAT	c.(424-426)CATfs	p.H142fs	IL31RA_uc003jqk.2_Frame_Shift_Del_p.H142fs|IL31RA_uc011cqj.1_5'UTR|IL31RA_uc003jqm.2_Frame_Shift_Del_p.H110fs|IL31RA_uc003jqn.2_Frame_Shift_Del_p.H142fs|IL31RA_uc010iwa.1_Frame_Shift_Del_p.H110fs|IL31RA_uc003jqo.2_5'UTR	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	110	Extracellular (Potential).|Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---
MAP3K1	4214	broad.mit.edu	37	5	56160542	56160542	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56160542delA	uc003jqw.3	+							NM_005921	NP_005912			mitogen-activated protein kinase kinase kinase						cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)														---	---	---	---
COL4A3BP	10087	broad.mit.edu	37	5	74670244	74670244	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74670244delA	uc011csu.1	-						COL4A3BP_uc003kds.2_Intron|COL4A3BP_uc003kdt.2_Intron	NM_005713	NP_005704			alpha 3 type IV collagen binding protein isoform						ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)														---	---	---	---
POLK	51426	broad.mit.edu	37	5	74872584	74872584	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74872584delT	uc003kdw.2	+						POLK_uc003kdx.2_Intron|POLK_uc003kdy.2_Intron|POLK_uc003kea.2_Intron|POLK_uc003keb.2_Intron|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Intron|POLK_uc010izr.2_Intron|POLK_uc010izs.2_Intron|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Intron	NM_016218	NP_057302			DNA-directed DNA polymerase kappa						DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
WDR41	55255	broad.mit.edu	37	5	76728856	76728856	+	3'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76728856delA	uc003kff.1	-	13					WDR41_uc011csy.1_3'UTR|WDR41_uc011csz.1_3'UTR	NM_018268	NP_060738			WD repeat domain 41												0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)														---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78378959	78378959	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78378959delA	uc003kft.2	+						BHMT2_uc011cth.1_Intron	NM_017614	NP_060084			betaine-homocysteine methyltransferase 2						methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
ZFYVE16	9765	broad.mit.edu	37	5	79751468	79751468	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79751468delT	uc003kgr.3	+						ZFYVE16_uc003kgq.3_Intron|ZFYVE16_uc003kgs.3_Intron|ZFYVE16_uc003kgt.3_Intron|ZFYVE16_uc003kgu.3_5'UTR	NM_001105251	NP_001098721			zinc finger, FYVE domain containing 16						BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)														---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80515512	80515513	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80515512_80515513insT	uc003kha.1	+						RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_Intron	NM_006909	NP_008840			Ras protein-specific guanine						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)														---	---	---	---
Unknown	0	broad.mit.edu	37	5	86180002	86180005	+	IGR	DEL	TTTC	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86180002_86180005delTTTC								COX7C (263421 upstream) : RASA1 (384146 downstream)																																			---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87491918	87491918	+	3'UTR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:87491918delT	uc003kjc.2	-	12					TMEM161B_uc011cty.1_3'UTR|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_3'UTR	NM_153354	NP_699185			transmembrane protein 161B							integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)														---	---	---	---
C5orf30	90355	broad.mit.edu	37	5	102612419	102612419	+	3'UTR	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102612419delG	uc003kog.1	+	3					C5orf30_uc003koh.1_3'UTR	NM_033211	NP_149988			hypothetical protein LOC90355												0		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)														---	---	---	---
FER	2241	broad.mit.edu	37	5	108229917	108229917	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108229917delA	uc003kop.1	+						FER_uc011cvf.1_Intron|FER_uc011cvg.1_Intron	NM_005246	NP_005237			fer (fps/fes related) tyrosine 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	108673167	108673168	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108673167_108673168insA	uc003kos.3	-							NM_014819	NP_055634			praja 2, RING-H2 motif containing						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)														---	---	---	---
TMEM232	642987	broad.mit.edu	37	5	109877943	109877943	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:109877943delT	uc011cvh.1	-						TMEM232_uc003kow.1_Intron|TMEM232_uc003kox.2_Intron|TMEM232_uc010jbs.2_Intron|TMEM232_uc003koy.3_Intron					SubName: Full=cDNA FLJ54480;							integral to membrane					0																		---	---	---	---
Unknown	0	broad.mit.edu	37	5	115106723	115106723	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115106723delA								TMED7-TICAM2 (144853 upstream) : CDO1 (33709 downstream)																																			---	---	---	---
DTWD2	285605	broad.mit.edu	37	5	118310422	118310422	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118310422delT	uc003ksa.2	-							NM_173666	NP_775937			DTW domain containing 2												0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)														---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118487583	118487583	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118487583delT	uc003ksd.2	+						DMXL1_uc010jcl.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)														---	---	---	---
Unknown	0	broad.mit.edu	37	5	120952552	120952552	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:120952552delA								PRR16 (929590 upstream) : FTMT (235098 downstream)																																			---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130764956	130764956	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:130764956delA	uc003kvn.1	-						RAPGEF6_uc003kvp.1_Intron|RAPGEF6_uc003kvo.1_Intron|RAPGEF6_uc010jdi.1_Intron|RAPGEF6_uc010jdj.1_Intron|RAPGEF6_uc003kvm.1_Intron	NM_016340	NP_057424			PDZ domain-containing guanine nucleotide						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)														---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131914905	131914905	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									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					---	---	---	---
CDC23	8697	broad.mit.edu	37	5	137542097	137542097	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137542097delT	uc003lcl.2	-						CDC23_uc003lcm.1_3'UTR	NM_004661	NP_004652			cell division cycle protein 23						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|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|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
MATR3	9782	broad.mit.edu	37	5	138614684	138614685	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138614684_138614685delAA	uc003ldu.2	+						SNHG4_uc010jfa.2_Intron|SNHG4_uc003ldr.2_Intron|MATR3_uc003lds.2_Intron|MATR3_uc010jfb.2_Intron|MATR3_uc003ldt.2_Intron	NM_199189	NP_954659			matrin 3							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)															---	---	---	---
PRELID2	153768	broad.mit.edu	37	5	145144578	145144578	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145144578delA	uc003lnp.1	-						PRELID2_uc003lnq.1_Intron|PRELID2_uc003lno.1_Intron	NM_182960	NP_892005			PRELI domain containing 2 isoform a												0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SPINK6	404203	broad.mit.edu	37	5	147585469	147585469	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147585469delA	uc003lpa.2	+							NM_205841	NP_995313			serine protease inhibitor, Kazal type 6							extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
RBM22	55696	broad.mit.edu	37	5	150076461	150076461	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150076461delA	uc003lst.2	-							NM_018047	NP_060517			RNA binding motif protein 22						protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding				0		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150907020	150907020	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150907020delA	uc003lue.3	-						GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Intron	NM_001447	NP_001438			FAT tumor suppressor 2 precursor						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)															---	---	---	---
NPM1	4869	broad.mit.edu	37	5	170837416	170837417	+	Intron	DEL	CT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170837416_170837417delCT	uc011dex.1	+						NPM1_uc003mbi.2_Intron|NPM1_uc003mbj.2_Intron	NM_002520	NP_002511			nucleophosmin 1 isoform 1						anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	p.D280_E282del(1)	NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T|F 	ALK|RARA|MLF1	NHL|APL|AML								---	---	---	---
C5orf41	153222	broad.mit.edu	37	5	172507733	172507733	+	5'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172507733delA	uc003mch.2	+	2					C5orf41_uc003mcg.2_5'UTR|C5orf41_uc003mcf.2_5'UTR|C5orf41_uc011dfd.1_5'UTR	NM_153607	NP_705835			luman-recruiting factor								protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176722543	176722543	+	3'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176722543delA	uc003mfr.3	+	23					NSD1_uc003mft.3_3'UTR|NSD1_uc011dfx.1_3'UTR	NM_022455	NP_071900			nuclear receptor binding SET domain protein 1						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
FAM153A	285596	broad.mit.edu	37	5	177167589	177167590	+	Intron	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177167589_177167590delTT	uc010jkp.1	-						FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_Intron|FAM153A_uc003mic.2_Intron	NM_173663	NP_775934			hypothetical protein LOC285596											skin(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)															---	---	---	---
RMND5B	64777	broad.mit.edu	37	5	177570902	177570902	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177570902delC	uc003mim.2	+						RMND5B_uc003min.2_Intron|RMND5B_uc003mio.2_Intron|RMND5B_uc003mip.2_Intron|RMND5B_uc011dgf.1_Intron|RMND5B_uc003miq.2_Intron	NM_022762	NP_073599			required for meiotic nuclear division 5 homolog											ovary(1)|skin(1)	2	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)															---	---	---	---
DUSP22	56940	broad.mit.edu	37	6	292695	292695	+	Intron	DEL	C	-	-	rs3832447		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:292695delC	uc003msx.2	+						DUSP22_uc011dhn.1_Intron	NM_020185	NP_064570			dual specificity phosphatase 22						apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)														---	---	---	---
Unknown	0	broad.mit.edu	37	6	9660779	9660779	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:9660779delA								None (None upstream) : TFAP2A (736138 downstream)																																			---	---	---	---
TBC1D7	51256	broad.mit.edu	37	6	13305209	13305209	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13305209delA	uc003naj.2	-						TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_3'UTR|TBC1D7_uc003nal.2_3'UTR|TBC1D7_uc003nam.2_3'UTR|TBC1D7_uc003nao.2_3'UTR	NM_016495	NP_057579			TBC1 domain family, member 7 isoform a						positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)															---	---	---	---
ALDH5A1	7915	broad.mit.edu	37	6	24532318	24532318	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24532318delT	uc003neg.2	+						ALDH5A1_uc003nef.2_Intron	NM_001080	NP_001071			aldehyde dehydrogenase 5A1 isoform 2 precursor						acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)													---	---	---	---
TRIM27	5987	broad.mit.edu	37	6	28872041	28872043	+	In_Frame_Del	DEL	AGA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28872041_28872043delAGA	uc003nlr.2	-	8	1705_1707	c.1346_1348delTCT	c.(1345-1350)TTCTAC>TAC	p.F449del	TRIM27_uc003nls.2_In_Frame_Del_p.S356del|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	449	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1								T	RET	papillary thyroid								---	---	---	---
Unknown	0	broad.mit.edu	37	6	29298417	29298418	+	IGR	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29298417_29298418insT								OR14J1 (22986 upstream) : OR5V1 (24590 downstream)																																			---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29911091	29911092	+	Frame_Shift_Ins	INS	-	G	G	rs1136702		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29911091_29911092insG	uc003nol.2	+	3	390_391	c.390_391insG	c.(388-393)GACGGGfs	p.D130fs	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Frame_Shift_Ins_p.D9fs|HLA-A_uc003nok.2_Frame_Shift_Ins_p.D9fs|HLA-A_uc003non.2_Frame_Shift_Ins_p.D130fs|HLA-A_uc003noo.2_Frame_Shift_Ins_p.D130fs|HLA-A_uc010jrr.2_Frame_Shift_Ins_p.D130fs|HLA-A_uc003nom.2_Frame_Shift_Ins_p.D9fs|HLA-A_uc010klp.2_Frame_Shift_Ins_p.D102fs|HLA-A_uc011dmc.1_Frame_Shift_Ins_p.D9fs|HLA-A_uc011dmd.1_Frame_Shift_Ins_p.D9fs	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	130_131	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2														Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30675439	30675439	+	Frame_Shift_Del	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30675439delC	uc003nrg.3	-	8	3357	c.2917delG	c.(2917-2919)GCGfs	p.A973fs	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	973				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4													Other_conserved_DNA_damage_response_genes					---	---	---	---
BAT1	7919	broad.mit.edu	37	6	31507061	31507061	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31507061delG	uc003ntt.2	-						BAT1_uc003nts.2_Intron|BAT1_uc011dnn.1_Intron|BAT1_uc003ntu.2_Intron|BAT1_uc003ntv.2_Intron|BAT1_uc003ntw.2_Intron|BAT1_uc003ntx.2_Intron|BAT1_uc011dno.1_Intron|BAT1_uc011dnp.1_Intron|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_Intron	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																		---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31709163	31709163	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31709163delT	uc003nwv.1	+						MSH5_uc003nwt.1_Intron|MSH5_uc003nwu.1_Intron|MSH5_uc003nww.1_Intron|MSH5_uc003nwx.1_Intron	NM_172166	NP_751898			mutS homolog 5 isoform c						chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3													Direct_reversal_of_damage|MMR					---	---	---	---
TAPBP	6892	broad.mit.edu	37	6	33280796	33280796	+	Intron	DEL	T	-	-	rs67868917		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33280796delT	uc003odx.1	-						TAPBP_uc010jus.1_Intron|TAPBP_uc003ody.2_Intron|TAPBP_uc003odz.2_Intron|TAPBP_uc010jut.1_Intron|TAPBP_uc011drc.1_Intron	NM_003190	NP_003181			tapasin isoform 1 precursor						antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1																		---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33367780	33367780	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33367780delT	uc003oef.3	+						KIFC1_uc011drf.1_Intron|uc011drg.1_RNA	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																		---	---	---	---
C6orf126	389383	broad.mit.edu	37	6	35745086	35745087	+	Intron	INS	-	G	G	rs147993418	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35745086_35745087insG	uc010jvz.1	+						C6orf126_uc003olc.1_Intron	NM_207409	NP_997292			hypothetical protein LOC389383 precursor						digestion|lipid catabolic process	extracellular region	enzyme activator activity				0																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38813268	38813268	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38813268delA	uc003ooe.1	+							NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42600224	42600224	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42600224delT	uc011dur.1	+						UBR2_uc011dus.1_Intron|UBR2_uc010jxv.1_Intron|UBR2_uc003osh.2_Intron	NM_015255	NP_056070			ubiquitin protein ligase E3 component n-recognin						cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42610142	42610142	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42610142delT	uc011dur.1	+						UBR2_uc011dus.1_Intron|UBR2_uc010jxv.1_Intron|UBR2_uc003osh.2_Intron	NM_015255	NP_056070			ubiquitin protein ligase E3 component n-recognin						cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)															---	---	---	---
C6orf153	88745	broad.mit.edu	37	6	42994811	42994812	+	Intron	DEL	TG	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42994811_42994812delTG	uc003otp.1	+							NM_033112	NP_149103			hypothetical protein LOC88745						ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---
SLC35B2	347734	broad.mit.edu	37	6	44224749	44224750	+	Intron	INS	-	CT	CT	rs141759671	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44224749_44224750insCT	uc003oxd.2	-						SLC35B2_uc011dvt.1_Intron|SLC35B2_uc011dvu.1_Intron	NM_178148	NP_835361			solute carrier family 35, member B2						positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
SUPT3H	8464	broad.mit.edu	37	6	45296016	45296016	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:45296016delA	uc003oxo.2	-						SUPT3H_uc003oxn.1_Intron|SUPT3H_uc011dvv.1_Intron|SUPT3H_uc003oxp.2_Intron|RUNX2_uc011dvx.1_5'Flank|RUNX2_uc011dvy.1_5'Flank|RUNX2_uc003oxs.1_5'Flank	NM_181356	NP_852001			suppressor of Ty 3 homolog isoform 2						histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			ovary(2)|breast(1)	3																		---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49701364	49701364	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49701364delT	uc003ozs.2	-							NM_006061	NP_006052			cysteine-rich secretory protein 3 precursor						innate immune response	proteinaceous extracellular matrix|specific granule				skin(2)	2	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)															---	---	---	---
EFHC1	114327	broad.mit.edu	37	6	52288681	52288681	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52288681delT	uc003pap.3	+						EFHC1_uc011dwv.1_Intron|EFHC1_uc011dww.1_Intron	NM_018100	NP_060570			EF-hand domain (C-terminal) containing 1							axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)																	---	---	---	---
KLHL31	401265	broad.mit.edu	37	6	53520114	53520114	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53520114delA	uc003pcb.3	-							NM_001003760	NP_001003760			kelch repeat and BTB (POZ) domain containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)																	---	---	---	---
TINAG	27283	broad.mit.edu	37	6	54254616	54254617	+	Frame_Shift_Ins	INS	-	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54254616_54254617insG	uc003pcj.2	+	11	1470_1471	c.1324_1325insG	c.(1324-1326)TGGfs	p.W442fs	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	442					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)															---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56047463	56047463	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56047463delA	uc003pcs.2	-						COL21A1_uc003pct.1_Intron|COL21A1_uc011dxi.1_Intron|COL21A1_uc003pcu.1_Intron	NM_030820	NP_110447			collagen, type XXI, alpha 1 precursor						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	56438457	56438457	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56438457delT	uc003pdf.2	-						DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc010kaa.1_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)															---	---	---	---
BAI3	577	broad.mit.edu	37	6	70049069	70049069	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									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)																---	---	---	---
SENP6	26054	broad.mit.edu	37	6	76423085	76423085	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76423085delT	uc003pid.3	+						SENP6_uc003pie.3_Intron|SENP6_uc010kbf.2_Intron	NM_015571	NP_056386			SUMO1/sentrin specific peptidase 6 isoform 1						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)																---	---	---	---
TTK	7272	broad.mit.edu	37	6	80717853	80717853	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:80717853delT	uc003pjc.2	+						TTK_uc003pjb.3_Intron	NM_003318	NP_003309			TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)														---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86235967	86235967	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86235967delA	uc003pkr.2	-						SNX14_uc003pkp.2_Intron|SNX14_uc003pkq.2_Intron|SNX14_uc011dzg.1_Intron|SNX14_uc003pks.2_Intron|SNX14_uc003pkt.2_Intron	NM_153816	NP_722523			sorting nexin 14 isoform a						cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)														---	---	---	---
RARS2	57038	broad.mit.edu	37	6	88240359	88240359	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88240359delA	uc003pme.2	-						RARS2_uc003pmb.2_Intron|RARS2_uc003pmc.2_Intron|RARS2_uc003pmd.2_Intron|RARS2_uc003pmf.2_Intron	NM_020320	NP_064716			arginyl-tRNA synthetase 2, mitochondrial						arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		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;0.0456)														---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90661567	90661568	+	Frame_Shift_Ins	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90661567_90661568insC	uc011eab.1	-	7	1066_1067	c.257_258insG	c.(256-258)GGCfs	p.G86fs	BACH2_uc003pnw.2_Frame_Shift_Ins_p.G86fs|BACH2_uc010kch.2_Frame_Shift_Ins_p.G86fs	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	86	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109228788	109228788	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109228788delG	uc003pss.3	+						ARMC2_uc011eao.1_Intron	NM_032131	NP_115507			armadillo repeat containing 2								binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)														---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109285993	109285993	+	Intron	DEL	A	-	-	rs77214837		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109285993delA	uc003pss.3	+						ARMC2_uc011eao.1_Intron	NM_032131	NP_115507			armadillo repeat containing 2								binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)														---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114281017	114281018	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:114281017_114281018insA	uc003pwd.1	-						HDAC2_uc003pwc.1_Intron|HDAC2_uc003pwe.1_Intron	NM_001527	NP_001518			histone deacetylase 2						blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			skin(2)|ovary(1)|central_nervous_system(1)	4		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)													---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123786155	123786155	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123786155delA	uc003pzj.1	-						TRDN_uc003pzk.1_Intron|TRDN_uc003pzl.1_Intron|TRDN_uc010ken.2_Intron|uc003pzm.1_Intron	NM_006073	NP_006064			triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)														---	---	---	---
TRMT11	60487	broad.mit.edu	37	6	126329381	126329382	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:126329381_126329382insT	uc003qam.2	+						TRMT11_uc003qan.2_Intron|TRMT11_uc010kev.2_Intron	NM_001031712	NP_001026882			tRNA methyltransferase 11						tRNA processing		methyltransferase activity|nucleic acid binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0356)														---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129920561	129920561	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129920561delA	uc003qbr.2	-						ARHGAP18_uc011ebw.1_Intron	NM_033515	NP_277050			Rho GTPase activating protein 18						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)														---	---	---	---
IL22RA2	116379	broad.mit.edu	37	6	137479392	137479392	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137479392delA	uc003qhl.2	-						IL22RA2_uc003qhm.2_Intron|IL22RA2_uc003qhn.2_Intron	NM_052962	NP_443194			interleukin 22-binding protein isoform 1						regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)														---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146255804	146255804	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146255804delA	uc003qlf.2	-						SHPRH_uc003qld.2_Intron|SHPRH_uc003qle.2_Intron|SHPRH_uc003qlg.1_Intron|SHPRH_uc003qlh.2_5'Flank	NM_001042683	NP_001036148			SNF2 histone linker PHD RING helicase isoform a						DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)														---	---	---	---
KATNA1	11104	broad.mit.edu	37	6	149959854	149959854	+	5'Flank	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149959854delA	uc003qmr.1	-						KATNA1_uc003qms.2_Intron|KATNA1_uc003qmt.2_Intron|KATNA1_uc011eed.1_5'Flank	NM_007044	NP_008975			katanin p60 subunit A 1						cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)														---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152265724	152265724	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152265724delA	uc003qom.3	+						ESR1_uc010kin.2_Intron|ESR1_uc010kio.2_Intron|ESR1_uc010kip.2_Intron|ESR1_uc003qon.3_Intron|ESR1_uc003qoo.3_Intron|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Intron|ESR1_uc010kit.1_Intron|ESR1_uc011eey.1_Intron	NM_001122742	NP_001116214			estrogen receptor alpha isoform 4						positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)													---	---	---	---
RGS17	26575	broad.mit.edu	37	6	153344885	153344885	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153344885delT	uc003qpm.2	-							NM_012419	NP_036551			regulator of G-protein signalling 17						negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)										Lung_Cancer_Familial_Clustering_of				---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160461461	160461461	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160461461delA	uc003qta.2	+							NM_000876	NP_000867			insulin-like growth factor 2 receptor precursor						receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160505862	160505862	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160505862delT	uc003qta.2	+							NM_000876	NP_000867			insulin-like growth factor 2 receptor precursor						receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---
PLG	5340	broad.mit.edu	37	6	161143392	161143392	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161143392delT	uc003qtm.3	+							NM_000301	NP_000292			plasminogen						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)													---	---	---	---
ADAP1	11033	broad.mit.edu	37	7	944581	944581	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:944581delG	uc003sjo.3	-						ADAP1_uc003sjm.3_Intron|ADAP1_uc011jvs.1_Intron|ADAP1_uc003sjn.3_Intron|ADAP1_uc010ksc.2_Intron	NM_006869	NP_006860			centaurin, alpha 1						cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
FOXK1	221937	broad.mit.edu	37	7	4796967	4796967	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4796967delA	uc003snc.1	+						FOXK1_uc003sna.1_Intron	NM_001037165	NP_001032242			forkhead box K1						cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)														---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7516924	7516924	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7516924delA	uc003src.1	-						COL28A1_uc011jxe.1_Intron|COL28A1_uc003srd.2_Intron	NM_001037763	NP_001032852			collagen, type XXVIII precursor						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	12512340	12512340	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12512340delT								VWDE (68488 upstream) : SCIN (83847 downstream)																																			---	---	---	---
BZW2	28969	broad.mit.edu	37	7	16704934	16704934	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:16704934delA	uc003stl.2	+						BZW2_uc011jxx.1_Intron|BZW2_uc003stm.2_Intron|BZW2_uc003stj.2_Intron|BZW2_uc003stk.2_Intron|BZW2_uc003stn.1_Intron|BZW2_uc003sto.1_Intron|BZW2_uc003stp.2_5'Flank|BZW2_uc010kua.2_5'Flank	NM_001159767	NP_001153239			basic leucine zipper and W2 domains 2						cell differentiation|nervous system development|RNA metabolic process		protein binding			ovary(2)	2	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)														---	---	---	---
AGR3	155465	broad.mit.edu	37	7	16906066	16906066	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:16906066delA	uc003sts.2	-							NM_176813	NP_789783			breast cancer membrane protein 11 precursor							extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)														---	---	---	---
GARS	2617	broad.mit.edu	37	7	30662267	30662267	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30662267delT	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)													---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37283767	37283767	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37283767delA	uc003tfk.1	-						ELMO1_uc011kbc.1_Intron|ELMO1_uc010kxg.1_Intron	NM_014800	NP_055615			engulfment and cell motility 1 isoform 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
TRIM50	135892	broad.mit.edu	37	7	72729267	72729267	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72729267delA	uc010lbd.1	-						FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Intron|TRIM50_uc003txz.1_Intron	NM_178125	NP_835226			tripartite motif protein 50A							cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			skin(1)	1																		---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73974114	73974114	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73974114delT	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																		---	---	---	---
GTF2I	2969	broad.mit.edu	37	7	74172387	74172388	+	Intron	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:74172387_74172388insC	uc003uau.2	+						GTF2I_uc003uav.2_Intron|GTF2I_uc003uaw.2_Intron|GTF2I_uc003uay.2_Intron|GTF2I_uc003uax.2_Intron|GTF2I_uc003uba.2_Intron	NM_032999	NP_127492			general transcription factor IIi isoform 1						negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90675099	90675099	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90675099delA	uc003uky.2	+						CDK14_uc003ukz.1_Intron|CDK14_uc010les.1_Intron|CDK14_uc011khl.1_Intron	NM_012395	NP_036527			PFTAIRE protein kinase 1						cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4																		---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95775777	95775777	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95775777delA	uc003uof.3	-						SLC25A13_uc003uog.3_Intron|SLC25A13_uc011kik.1_Intron	NM_014251	NP_055066			solute carrier family 25, member 13 isoform 2						ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)													---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105099543	105099543	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105099543delA	uc003vcx.2	-						PUS7_uc010lji.2_Intron|PUS7_uc003vcy.2_Intron|PUS7_uc003vcz.1_Intron	NM_019042	NP_061915			pseudouridylate synthase 7 homolog						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1																		---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105102877	105102878	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105102877_105102878insA	uc003vcx.2	-						PUS7_uc010lji.2_Intron|PUS7_uc003vcy.2_Intron|PUS7_uc003vcz.1_Intron	NM_019042	NP_061915			pseudouridylate synthase 7 homolog						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1																		---	---	---	---
SYPL1	6856	broad.mit.edu	37	7	105739853	105739853	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105739853delT	uc003vdp.2	-						SYPL1_uc003vdo.2_Intron	NM_006754	NP_006745			synaptophysin-like 1 isoform a						synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity				0																		---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107407972	107407972	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107407972delT	uc003ver.2	-						SLC26A3_uc003ves.2_Intron	NM_000111	NP_000102			solute carrier family 26, member 3						excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4																		---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108154532	108154532	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:108154532delT	uc003vff.1	-						PNPLA8_uc003vfg.1_Intron|PNPLA8_uc003vfh.1_Intron|PNPLA8_uc003vfi.1_Intron|PNPLA8_uc003vfj.1_Intron|PNPLA8_uc003vfk.1_Intron	NM_015723	NP_056538			patatin-like phospholipase domain containing 8						fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2																		---	---	---	---
FAM71F2	346653	broad.mit.edu	37	7	128323277	128323277	+	3'UTR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128323277delT	uc003vnk.3	+	5					FAM71F2_uc010llm.1_3'UTR|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	NM_001012454	NP_001012457			hypothetical protein LOC346653 isoform a												0																		---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128645359	128645359	+	Intron	DEL	T	-	-	rs142831893		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128645359delT	uc003vol.1	-						TNPO3_uc003vom.1_Intron|TNPO3_uc010lly.1_Intron|TNPO3_uc010llz.1_Intron	NM_012470	NP_036602			transportin 3						splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135287858	135287860	+	Intron	DEL	TAC	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135287858_135287860delTAC	uc003vsw.2	+							NM_015135	NP_055950			nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	135947311	135947311	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135947311delT								LUZP6 (285107 upstream) : CHRM2 (606088 downstream)																																			---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138822694	138822694	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138822694delA	uc003vus.2	+						TTC26_uc003vuq.2_Intron|TTC26_uc011kqm.1_Intron|TTC26_uc003vur.3_Intron|TTC26_uc011kqn.1_Intron|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_Intron|TTC26_uc003vut.2_Intron|TTC26_uc011kqq.1_Intron	NM_024926	NP_079202			tetratricopeptide repeat domain 26 isoform 1								binding			ovary(1)	1																		---	---	---	---
BRAF	673	broad.mit.edu	37	7	140476994	140476994	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140476994delT	uc003vwc.3	-							NM_004333	NP_004324			B-Raf						activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141720899	141720899	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141720899delT	uc003vwy.2	+							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)													---	---	---	---
Unknown	0	broad.mit.edu	37	7	149588545	149588545	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149588545delA								ATP6V0E2 (10759 upstream) : ACTR3C (355757 downstream)																																			---	---	---	---
INSIG1	3638	broad.mit.edu	37	7	155095436	155095436	+	Intron	DEL	C	-	-	rs9768687	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:155095436delC	uc003wly.2	+						INSIG1_uc011kvu.1_Intron|INSIG1_uc003wlz.2_Intron	NM_005542	NP_005533			insulin induced gene 1 isoform 1						cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	157280637	157280637	+	IGR	DEL	A	-	-	rs112958612		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157280637delA								DNAJB6 (70505 upstream) : PTPRN2 (51114 downstream)																																			---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1851547	1851548	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1851547_1851548delAG	uc003wpr.2	+	16	1929_1930	c.1751_1752delAG	c.(1750-1752)AAGfs	p.K584fs	ARHGEF10_uc003wpq.1_Frame_Shift_Del_p.K608fs|ARHGEF10_uc003wps.2_Frame_Shift_Del_p.K546fs|ARHGEF10_uc003wpt.2_Frame_Shift_Del_p.K460fs|ARHGEF10_uc003wpv.2_Frame_Shift_Del_p.K317fs|ARHGEF10_uc010lre.2_Frame_Shift_Del_p.K264fs	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	609					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)														---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9605523	9605523	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9605523delT	uc003wss.2	+						TNKS_uc011kww.1_Intron|TNKS_uc010lrt.1_Intron	NM_003747	NP_003738			tankyrase, TRF1-interacting ankyrin-related						mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
VPS37A	137492	broad.mit.edu	37	8	17142235	17142235	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17142235delT	uc003wxj.2	+						VPS37A_uc003wxk.2_Intron|VPS37A_uc003wxl.2_Intron	NM_152415	NP_689628			hepatocellular carcinoma related protein 1						cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)														---	---	---	---
PPP3CC	5533	broad.mit.edu	37	8	22385149	22385150	+	Intron	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22385149_22385150delTT	uc003xbs.2	+						PPP3CC_uc011kzi.1_Intron|PPP3CC_uc003xbt.2_Intron|PPP3CC_uc011kzj.1_Intron	NM_005605	NP_005596			protein phosphatase 3, catalytic subunit, gamma						activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)														---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28331264	28331264	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28331264delA	uc003xgt.2	-						FBXO16_uc003xgu.2_Intron|FBXO16_uc003xgv.2_Intron|FBXO16_uc003xgw.2_Intron	NM_018660	NP_061130			zinc finger protein 395						transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)														---	---	---	---
WRN	7486	broad.mit.edu	37	8	30922660	30922660	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30922660delT	uc003xio.3	+							NM_000553	NP_000544			Werner syndrome protein						base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)				Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				---	---	---	---
IDO1	3620	broad.mit.edu	37	8	39777743	39777744	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39777743_39777744insA	uc003xnm.2	+						IDO1_uc003xnn.2_Intron	NM_002164	NP_002155			indoleamine 2,3-dioxygenase 1						female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)	2					L-Tryptophan(DB00150)													---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61714076	61714076	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61714076delT	uc003xue.2	+							NM_017780	NP_060250			chromodomain helicase DNA binding protein 7						central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70488249	70488249	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70488249delG	uc010lza.1	+	6	934	c.217delG	c.(217-219)GGGfs	p.G73fs	SULF1_uc003xyd.2_Frame_Shift_Del_p.G73fs|SULF1_uc003xye.2_Frame_Shift_Del_p.G73fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.G73fs|SULF1_uc003xyg.2_Frame_Shift_Del_p.G73fs	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	73					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)															---	---	---	---
EYA1	2138	broad.mit.edu	37	8	72127508	72127508	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72127508delT	uc003xys.3	-						EYA1_uc003xyr.3_Intron|EYA1_uc003xyt.3_Intron|EYA1_uc010lzf.2_Intron|EYA1_uc003xyu.2_Intron|EYA1_uc011lfe.1_Intron|EYA1_uc003xyv.2_Intron	NM_172058	NP_742055			eyes absent 1 isoform b						double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)															---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74495119	74495119	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:74495119delA	uc003xzm.2	-						STAU2_uc011lfg.1_Intron|STAU2_uc003xzn.2_Intron|STAU2_uc011lfh.1_Intron|STAU2_uc003xzo.2_Intron|STAU2_uc003xzp.2_Intron|STAU2_uc011lfi.1_Intron|STAU2_uc003xzq.2_Intron|STAU2_uc010lzk.2_Intron|STAU2_uc010lzl.1_Intron	NM_014393	NP_055208			staufen homolog 2 isoform e						transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)															---	---	---	---
POP1	10940	broad.mit.edu	37	8	99148630	99148630	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99148630delA	uc003yij.3	+						POP1_uc011lgv.1_Intron|POP1_uc003yik.2_Intron	NM_001145860	NP_001139332			processing of precursor 1						tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103289349delT	uc003ykr.1	-	45	6393	c.6360delA	c.(6358-6360)AAAfs	p.K2120fs	UBR5_uc003yks.1_Frame_Shift_Del_p.K2120fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2120					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)															---	---	---	---
ANGPT1	284	broad.mit.edu	37	8	108348381	108348381	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:108348381delT	uc003ymn.2	-	3	1040	c.572delA	c.(571-573)AACfs	p.N191fs	ANGPT1_uc011lhv.1_5'UTR|ANGPT1_uc003ymo.2_Frame_Shift_Del_p.N191fs	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	191	Potential.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)															---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113249258	113249258	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113249258delA	uc003ynu.2	-						CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756			CUB and Sushi multiple domains 3 isoform 1							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)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113421012	113421012	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113421012delA	uc003ynu.2	-						CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756			CUB and Sushi multiple domains 3 isoform 1							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)			---	---	---	---
WDYHV1	55093	broad.mit.edu	37	8	124442147	124442147	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124442147delA	uc003yqn.1	+						WDYHV1_uc011lij.1_Intron|WDYHV1_uc003yqo.1_5'Flank	NM_018024	NP_060494			WDYHV motif containing 1						protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)|skin(1)	2																		---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126075931	126075931	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126075931delA	uc003yrt.2	-						KIAA0196_uc011lir.1_Intron|KIAA0196_uc003yru.1_Intron	NM_014846	NP_055661			strumpellin						cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)															---	---	---	---
DMRT3	58524	broad.mit.edu	37	9	989895	989896	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:989895_989896insT	uc003zgw.1	+							NM_021240	NP_067063			doublesex and mab-3 related transcription factor						cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)														---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2191589	2191589	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2191589delG	uc003zhc.2	+						SMARCA2_uc003zhd.2_Intron|SMARCA2_uc010mha.2_Intron|SMARCA2_uc011llw.1_Intron|SMARCA2_uc003zhf.2_Intron|SMARCA2_uc011llx.1_Intron|SMARCA2_uc003zhe.2_Intron|SMARCA2_uc003zhg.2_Intron|SMARCA2_uc010mhb.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)														---	---	---	---
ACO1	48	broad.mit.edu	37	9	32431705	32431705	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32431705delT	uc003zqw.3	+						ACO1_uc010mjh.1_Intron|ACO1_uc003zqx.3_Intron|ACO1_uc003zqy.3_Intron	NM_002197	NP_002188			aconitase 1						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)														---	---	---	---
APTX	54840	broad.mit.edu	37	9	32986220	32986220	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									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					---	---	---	---
DNAJA1	3301	broad.mit.edu	37	9	33034207	33034207	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33034207delT	uc003zsd.1	+						DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Intron	NM_001539	NP_001530			DnaJ (Hsp40) homolog, subfamily A, member 1						protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)														---	---	---	---
DCAF10	79269	broad.mit.edu	37	9	37842326	37842326	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37842326delT	uc004aao.2	+						DCAF10_uc010mlz.2_Intron	NM_024345	NP_077321			WD repeat domain 32							CUL4 RING ubiquitin ligase complex				central_nervous_system(1)	1																		---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75445346	75445346	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:75445346delT	uc004aiz.1	+						TMC1_uc010moz.1_Intron|TMC1_uc004aja.1_Intron|TMC1_uc004ajb.1_Intron|TMC1_uc004ajc.1_Intron|TMC1_uc010mpa.1_Intron	NM_138691	NP_619636			transmembrane channel-like 1						sensory perception of sound	integral to membrane				ovary(1)	1																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79890720	79890720	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79890720delC	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_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																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79930064	79930064	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79930064delT	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																		---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90113866	90113866	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90113866delT	uc004apc.2	+						DAPK1_uc004ape.2_Intron|DAPK1_uc004apd.2_Intron|DAPK1_uc011ltg.1_5'Flank|DAPK1_uc011lth.1_5'Flank	NM_004938	NP_004929			death-associated protein kinase 1						apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2														Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95085791	95085794	+	Intron	DEL	AAAC	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95085791_95085794delAAAC	uc004arv.2	-						CENPP_uc004arz.2_5'Flank|CENPP_uc010mqx.2_5'Flank|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Intron|NOL8_uc004arx.2_Intron|CENPP_uc004ary.1_5'Flank	NM_017948	NP_060418			nucleolar protein 8						DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96422612	96422612	+	Frame_Shift_Del	DEL	A	-	-	rs76832193		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96422612delA	uc004aub.2	+	12	1615	c.1468delA	c.(1468-1470)AAAfs	p.K490fs	PHF2_uc011lug.1_Frame_Shift_Del_p.K373fs|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	490	Pro-rich.|Lys-rich.				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)														---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101816826	101816826	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101816826delT	uc004azb.1	+							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)																---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104309059	104309059	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104309059delT	uc004bbn.2	+							NM_019592	NP_062538			ring finger protein 20						histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)														---	---	---	---
FKTN	2218	broad.mit.edu	37	9	108358853	108358853	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108358853delA	uc004bcr.2	+						FKTN_uc011lvx.1_Intron|FKTN_uc004bcs.2_Intron|FKTN_uc011lvy.1_Intron|FKTN_uc010mtm.2_Intron	NM_001079802	NP_001073270			fukutin						muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3																		---	---	---	---
PRPF4	9128	broad.mit.edu	37	9	116049339	116049339	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116049339delA	uc004bgx.2	+						PRPF4_uc004bgy.2_Intron	NM_004697	NP_004688			PRP4 pre-mRNA processing factor 4 homolog							Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---
C5	727	broad.mit.edu	37	9	123753470	123753470	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123753470delT	uc004bkv.2	-	23	2970	c.2940delA	c.(2938-2940)AAAfs	p.K980fs		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	980					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	125146098	125146098	+	Intron	DEL	G	-	-	rs78094806	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125146098delG	uc004bmg.1	+						PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Intron|PTGS1_uc011lyt.1_Intron	NM_000962	NP_000953			prostaglandin-endoperoxide synthase 1 isoform 1						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)													---	---	---	---
ODF2	4957	broad.mit.edu	37	9	131250065	131250065	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131250065delA	uc011mbd.1	+						ODF2_uc011maz.1_Intron|ODF2_uc011mbb.1_Intron|ODF2_uc011mbc.1_Intron|ODF2_uc004bva.2_Intron|ODF2_uc004bvb.2_Intron|ODF2_uc011mbe.1_Intron|ODF2_uc004bvc.2_Intron|ODF2_uc011mbf.1_Intron|ODF2_uc004bvd.3_Intron|ODF2_uc004bve.2_Intron	NM_002540	NP_002531			outer dense fiber of sperm tails 2 isoform 1						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1																		---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131865158	131865160	+	Intron	DEL	GAG	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131865158_131865160delGAG	uc004bxh.2	-						CRAT_uc004bxg.2_Intron|CRAT_uc004bxk.3_Intron	NM_000755	NP_000746			carnitine acetyltransferase precursor						energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)													---	---	---	---
PPP2R4	5524	broad.mit.edu	37	9	131882705	131882706	+	Intron	DEL	AG	-	-	rs79351876		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131882705_131882706delAG	uc004bxm.1	+						PPP2R4_uc004bxl.1_Intron|PPP2R4_uc011mbo.1_Intron|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Intron|PPP2R4_uc004bxo.1_Intron|PPP2R4_uc011mbp.1_Intron|PPP2R4_uc011mbq.1_Intron|PPP2R4_uc010mys.1_Intron	NM_178001	NP_821068			protein phosphatase 2A, regulatory subunit B'						ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)														---	---	---	---
ASB6	140459	broad.mit.edu	37	9	132402707	132402707	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132402707delG	uc004byf.1	-						ASB6_uc004bye.1_Intron|ASB6_uc004byg.1_Intron|ASB6_uc011mbt.1_Intron|ASB6_uc010myx.1_Intron	NM_017873	NP_060343			ankyrin repeat and SOCS box-containing 6 isoform						intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)																---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136597511	136597511	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136597511delC	uc004cep.3	-						SARDH_uc004ceo.2_Intron|SARDH_uc011mdn.1_Intron|SARDH_uc011mdo.1_Intron	NM_001134707	NP_001128179			sarcosine dehydrogenase precursor						glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)														---	---	---	---
LHX3	8022	broad.mit.edu	37	9	139091477	139091478	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139091477_139091478insT	uc004cha.2	-						LHX3_uc004cgz.2_Intron	NM_178138	NP_835258			LIM homeobox protein 3 isoform a						inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)														---	---	---	---
C8G	733	broad.mit.edu	37	9	139839920	139839920	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139839920delG	uc004cka.2	+						FBXW5_uc010nbx.2_5'Flank|FBXW5_uc004cjx.2_5'Flank|FBXW5_uc004cjy.2_5'Flank|FBXW5_uc004cjz.2_5'Flank	NM_000606	NP_000597			complement component 8, gamma polypeptide						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity				0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)												OREG0019623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
WDR85	92715	broad.mit.edu	37	9	140469056	140469056	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140469056delT	uc004cnk.1	-						WDR85_uc004cnl.1_Intron|WDR85_uc004cnm.1_Intron|WDR85_uc004cnn.1_Intron	NM_138778	NP_620133			WD repeat domain 85						peptidyl-diphthamide biosynthetic process from peptidyl-histidine						0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)														---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
GTPBP4	23560	broad.mit.edu	37	10	1058424	1058426	+	In_Frame_Del	DEL	AAG	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1058424_1058426delAAG	uc001ift.2	+	14	1435_1437	c.1364_1366delAAG	c.(1363-1368)AAAGAA>AAA	p.E458del	GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_In_Frame_Del_p.E342del|GTPBP4_uc010qae.1_In_Frame_Del_p.E411del	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	458					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)														---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7773748	7773749	+	Intron	DEL	TC	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7773748_7773749delTC	uc001ijs.2	+							NM_002216	NP_002207			inter-alpha globulin inhibitor H2 polypeptide						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
USP6NL	9712	broad.mit.edu	37	10	11504926	11504926	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:11504926delG	uc001ikt.3	-	15	2322	c.2001delC	c.(1999-2001)TCCfs	p.S667fs	USP6NL_uc001iks.1_Frame_Shift_Del_p.S684fs	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	667						intracellular	Rab GTPase activator activity				0																		---	---	---	---
PRPF18	8559	broad.mit.edu	37	10	13639798	13639800	+	Intron	DEL	TTT	-	-	rs72082754		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13639798_13639800delTTT	uc001imp.2	+						PRPF18_uc001imq.2_Intron	NM_003675	NP_003666			PRP18 pre-mRNA processing factor 18 homolog						mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)	1																		---	---	---	---
PIP4K2A	5305	broad.mit.edu	37	10	22830979	22830979	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22830979delG	uc001irl.3	-						PIP4K2A_uc010qcu.1_Intron	NM_005028	NP_005019			phosphatidylinositol-5-phosphate 4-kinase, type								1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2																		---	---	---	---
MAPK8	5599	broad.mit.edu	37	10	49632499	49632499	+	Intron	DEL	T	-	-	rs78072348		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49632499delT	uc009xnz.2	+						MAPK8_uc001jgl.2_Intron|MAPK8_uc001jgm.2_Intron|MAPK8_uc001jgo.2_Intron|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Intron|MAPK8_uc010qgk.1_Intron|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron	NM_139047	NP_620635			mitogen-activated protein kinase 8 isoform JNK1						activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)														---	---	---	---
Unknown	0	broad.mit.edu	37	10	52467957	52467957	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52467957delT								SGMS1 (83034 upstream) : ASAH2B (31739 downstream)																																			---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64949280	64949281	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64949280_64949281insT	uc001jmn.2	-						JMJD1C_uc001jml.2_Intron|JMJD1C_uc001jmm.2_Intron|JMJD1C_uc010qiq.1_Intron|JMJD1C_uc009xpi.2_Intron|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc001jmo.2_Intron	NM_032776	NP_116165			jumonji domain containing 1C isoform a						blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)																	---	---	---	---
P4HA1	5033	broad.mit.edu	37	10	74770630	74770630	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74770630delA	uc010qka.1	-						P4HA1_uc001jtg.2_Intron|P4HA1_uc001jth.2_Intron|P4HA1_uc010qkb.1_Intron|P4HA1_uc001jti.2_Intron	NM_001142595	NP_001136067			prolyl 4-hydroxylase, alpha I subunit isoform 2							endoplasmic reticulum lumen|mitochondrion	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-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75527586	75527587	+	Intron	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75527586_75527587insC	uc001juw.2	+						SEC24C_uc009xrj.1_Intron|SEC24C_uc001jux.2_Intron|SEC24C_uc010qko.1_Intron|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	NM_004922	NP_004913			SEC24-related protein C						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|zinc ion binding			skin(2)|central_nervous_system(1)	3	Prostate(51;0.0112)																	---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92502288	92502288	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:92502288delA	uc001kha.2	-						HTR7_uc001kgz.2_Intron|HTR7_uc001khb.2_Intron	NM_019859	NP_062873			5-hydroxytryptamine receptor 7 isoform d						blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)													---	---	---	---
CYP26C1	340665	broad.mit.edu	37	10	94828412	94828412	+	Frame_Shift_Del	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94828412delC	uc010qns.1	+	6	1527	c.1527delC	c.(1525-1527)CACfs	p.H509fs	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	509					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)																---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96112579	96112579	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96112579delA	uc001kjq.1	-						NOC3L_uc009xuk.1_Intron	NM_022451	NP_071896			nucleolar complex associated 3 homolog							nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)																---	---	---	---
ENTPD7	57089	broad.mit.edu	37	10	101439208	101439208	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101439208delA	uc001kqa.3	+	4	560	c.382delA	c.(382-384)AAAfs	p.K128fs	ENTPD7_uc009xwl.2_Frame_Shift_Del_p.K130fs	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	128	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)														---	---	---	---
FAM178A	55719	broad.mit.edu	37	10	102697376	102697376	+	Intron	DEL	T	-	-	rs73336293	byFrequency;by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102697376delT	uc001krt.3	+						FAM178A_uc001krs.2_Intron	NM_018121	NP_060591			hypothetical protein LOC55719 isoform 1												0																		---	---	---	---
C10orf118	55088	broad.mit.edu	37	10	115905525	115905525	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115905525delA	uc001lbb.1	-						C10orf118_uc009xyd.1_5'Flank|C10orf118_uc001lbc.1_Intron|C10orf118_uc009xye.1_Intron	NM_018017	NP_060487			CTCL tumor antigen L14-2											ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)														---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128768952	128768952	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128768952delT	uc001ljt.2	+						DOCK1_uc010qun.1_Intron	NM_001380	NP_001371			dedicator of cytokinesis 1						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)														---	---	---	---
ADAM8	101	broad.mit.edu	37	10	135083129	135083129	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135083129delC	uc010qva.1	-						ADAM8_uc010quz.1_Intron|ADAM8_uc009ybi.2_Intron					SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);						integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)														---	---	---	---
ANO9	338440	broad.mit.edu	37	11	433554	433554	+	Intron	DEL	C	-	-	rs12576389	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:433554delC	uc001lpi.2	-						ANO9_uc010qvv.1_Intron	NM_001012302	NP_001012302			tumor protein p53 inducible protein 5							chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	1361104	1361105	+	IGR	DEL	AG	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1361104_1361105delAG								TOLLIP (30265 upstream) : BRSK2 (50024 downstream)																																			---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3713397	3713397	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3713397delT	uc001lyh.2	-						NUP98_uc001lyi.2_Intron|NUP98_uc001lyg.2_Intron	NM_016320	NP_057404			nucleoporin 98kD isoform 1						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								---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4148609	4148610	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4148609_4148610insA	uc001lyw.3	+						RRM1_uc009yej.2_Intron|RRM1_uc009yei.2_Intron|RRM1_uc010qyc.1_Intron|RRM1_uc010qyd.1_Intron	NM_001033	NP_001024			ribonucleoside-diphosphate reductase M1 chain						deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)													---	---	---	---
CTR9	9646	broad.mit.edu	37	11	10794579	10794579	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10794579delA	uc001mja.2	+							NM_014633	NP_055448			SH2 domain binding protein 1						histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---
ZDHHC13	54503	broad.mit.edu	37	11	19167708	19167708	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19167708delT	uc001mpi.2	+						ZDHHC13_uc001mpj.2_Intron	NM_019028	NP_061901			zinc finger, DHHC domain containing 13 isoform						positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding				0																		---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22239726	22239726	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22239726delT	uc001mqi.2	+						ANO5_uc001mqj.2_Intron	NM_213599	NP_998764			anoctamin 5 isoform a							chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	27505351	27505351	+	IGR	DEL	C	-	-	rs11030023	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27505351delC								LGR4 (11017 upstream) : LIN7C (10620 downstream)																																			---	---	---	---
LIN7C	55327	broad.mit.edu	37	11	27523585	27523585	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27523585delA	uc001mrl.2	-						LIN7C_uc009yii.2_Intron	NM_018362	NP_060832			lin-7 homolog C						exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0																		---	---	---	---
PRRG4	79056	broad.mit.edu	37	11	32860418	32860418	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32860418delT	uc001mtx.2	+							NM_024081	NP_076986			proline rich Gla (G-carboxyglutamic acid) 4							extracellular region|Golgi apparatus|integral to membrane	calcium ion binding				0	Breast(20;0.206)																	---	---	---	---
CAT	847	broad.mit.edu	37	11	34490058	34490059	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34490058_34490059delAA	uc001mvm.2	+						CAT_uc001mvn.2_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)													---	---	---	---
PDHX	8050	broad.mit.edu	37	11	34952935	34952935	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34952935delT	uc001mvt.2	+						PDHX_uc010rep.1_Intron|PDHX_uc010req.1_Intron	NM_003477	NP_003468			pyruvate dehydrogenase complex, component X						pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)															---	---	---	---
Unknown	0	broad.mit.edu	37	11	45536103	45536103	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45536103delT								SYT13 (228219 upstream) : CHST1 (134324 downstream)																																			---	---	---	---
PHF21A	51317	broad.mit.edu	37	11	46100816	46100816	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46100816delA	uc001ncc.3	-						PHF21A_uc001ncb.3_Intron|PHF21A_uc009ykx.2_Intron|PHF21A_uc001nce.2_Intron	NM_001101802	NP_001095272			BRAF35/HDAC2 complex isoform a						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	46805913	46805913	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46805913delA	uc001ndi.1	-						CKAP5_uc009ylg.1_Intron|CKAP5_uc001ndj.1_Intron	NM_001008938	NP_001008938			colonic and hepatic tumor over-expressed protein						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																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	49059018	49059018	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49059018delT								OR4A47 (547746 upstream) : FOLH1 (109170 downstream)																																			---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55682136	55682137	+	5'Flank	INS	-	A	A	rs113180552		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55682136_55682137insA	uc010rir.1	-							NM_001001960	NP_001001960			olfactory receptor, family 5, subfamily W,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
MED19	219541	broad.mit.edu	37	11	57472789	57472789	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57472789delT	uc001nla.1	-						MED19_uc001nlb.2_Intron	NM_153450	NP_703151			mediator complex subunit 19						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(2)	2																		---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57577801	57577801	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57577801delT	uc001nmc.3	+						CTNND1_uc001nlh.1_Intron|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Intron|CTNND1_uc001nmd.3_Intron|CTNND1_uc001nlk.3_Intron|CTNND1_uc001nme.3_Intron|CTNND1_uc001nll.3_Intron|CTNND1_uc001nmg.3_Intron|CTNND1_uc001nlj.3_Intron|CTNND1_uc001nlr.3_Intron|CTNND1_uc001nlp.3_Intron|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Intron|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Intron|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Intron|CTNND1_uc001nli.3_Intron|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron	NM_001085458	NP_001078927			catenin, delta 1 isoform 1ABC						adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)																---	---	---	---
MS4A1	931	broad.mit.edu	37	11	60234644	60234644	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60234644delA	uc001npp.2	+						MS4A1_uc001npq.2_Intron|MS4A1_uc009yna.2_Intron|MS4A1_uc009ymz.2_Intron|MS4A1_uc010rlc.1_Intron	NM_152866	NP_690605			membrane-spanning 4-domains, subfamily A, member						B cell activation|immune response	integral to plasma membrane				ovary(3)|lung(2)	5					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)													---	---	---	---
Unknown	0	broad.mit.edu	37	11	62099099	62099100	+	IGR	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62099099_62099100insA								SCGB1D4 (32563 upstream) : ASRGL1 (5674 downstream)																																			---	---	---	---
RAB1B	81876	broad.mit.edu	37	11	66039143	66039143	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									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																		---	---	---	---
TBX10	347853	broad.mit.edu	37	11	67402372	67402373	+	Frame_Shift_Ins	INS	-	G	G	rs144542807		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67402372_67402373insG	uc001omp.2	-	3	379_380	c.291_292insC	c.(289-294)CCCTTCfs	p.P97fs		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	97_98	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71714877	71714877	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71714877delG	uc001orl.1	-						IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Intron|NUMA1_uc009ysw.1_Intron|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Intron	NM_006185	NP_006176			nuclear mitotic apparatus protein 1						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								---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75776968	75776969	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75776968_75776969insT	uc001oxc.2	+						UVRAG_uc010rrw.1_Intron|UVRAG_uc001oxd.2_Intron|UVRAG_uc010rrx.1_Intron	NM_003369	NP_003360			UV radiation resistance associated						DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6																		---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76892834	76892835	+	Intron	INS	-	G	G	rs11371875		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76892834_76892835insG	uc001oyb.2	+						MYO7A_uc010rsl.1_Intron|MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc001oyd.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron	NM_000260	NP_000251			myosin VIIA isoform 1						actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4																		---	---	---	---
CLNS1A	1207	broad.mit.edu	37	11	77336675	77336676	+	Intron	INS	-	GT	GT	rs139539521	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77336675_77336676insGT	uc001oyk.2	-						CLNS1A_uc001oyl.2_Intron	NM_001293	NP_001284			chloride channel, nucleotide-sensitive, 1A						blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			ovary(1)	1	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)															---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86665831	86665831	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86665831delG	uc001pce.2	-						uc001pcf.2_5'Flank	NM_012193	NP_036325			frizzled 4 precursor						canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
TRIM49	57093	broad.mit.edu	37	11	89536750	89536750	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89536750delT	uc001pdb.2	-							NM_020358	NP_065091			ring finger protein 18							intracellular	zinc ion binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)																---	---	---	---
MRE11A	4361	broad.mit.edu	37	11	94180614	94180616	+	Intron	DEL	AGA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94180614_94180616delAGA	uc001peu.2	-						MRE11A_uc001pev.2_Intron|MRE11A_uc009ywj.2_Intron	NM_005591	NP_005582			meiotic recombination 11 homolog A isoform 1						DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)											Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				---	---	---	---
Unknown	0	broad.mit.edu	37	11	96515048	96515048	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:96515048delT								JRKL (388321 upstream) : None (None downstream)																																			---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107942926	107942926	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107942926delA	uc001pjv.2	+						CUL5_uc001pju.2_Intron	NM_003478	NP_003469			Vasopressin-activated calcium-mobilizing						cell cycle arrest|cell proliferation|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|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)														---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107943195	107943195	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107943195delT	uc001pjv.2	+						CUL5_uc001pju.2_Intron	NM_003478	NP_003469			Vasopressin-activated calcium-mobilizing						cell cycle arrest|cell proliferation|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|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)														---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114121372	114121372	+	3'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									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)														---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116746872	116746872	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116746872delA	uc001ppy.2	-						SIK3_uc001ppz.2_Intron|SIK3_uc001pqa.2_Intron	NM_025164	NP_079440			serine/threonine-protein kinase QSK							cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12																		---	---	---	---
UBE4A	9354	broad.mit.edu	37	11	118242095	118242096	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118242095_118242096insT	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)														---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118626216	118626216	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118626216delA	uc001pub.2	-						DDX6_uc001pua.2_Intron|DDX6_uc001puc.2_Intron	NM_004397	NP_004388			DEAD (Asp-Glu-Ala-Asp) box polypeptide 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			ovary(1)	1	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)				T	IGH@	B-NHL								---	---	---	---
RPS25	6230	broad.mit.edu	37	11	118888388	118888388	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118888388delA	uc001pun.2	-						TRAPPC4_uc010ryn.1_5'Flank|TRAPPC4_uc010ryo.1_5'Flank|TRAPPC4_uc010ryp.1_5'Flank|TRAPPC4_uc001pup.2_5'Flank|TRAPPC4_uc010ryq.1_5'Flank	NM_001028	NP_001019			ribosomal protein S25						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)														---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121383686	121383686	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121383686delT	uc001pxx.2	+							NM_003105	NP_003096			sortilin-related receptor containing LDLR class						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	123988062	123988062	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123988062delT	uc001pzu.2	+						VWA5A_uc001pzr.2_Intron|VWA5A_uc001pzs.2_Intron|VWA5A_uc010sae.1_Intron|VWA5A_uc001pzt.2_Intron	NM_001130142	NP_001123614			BCSC-1 isoform 1											upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125475736	125475736	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125475736delT	uc001qcd.2	+						STT3A_uc009zbm.2_Intron|STT3A_uc001qce.2_Intron|STT3A_uc010sbg.1_Intron|STT3A_uc009zbn.2_5'Flank	NM_152713	NP_689926			integral membrane protein 1						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)														---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129807407	129807407	+	Intron	DEL	A	-	-	rs2513752		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:129807407delA	uc001qfm.2	-						PRDM10_uc001qfj.2_Intron|PRDM10_uc001qfk.2_Intron|PRDM10_uc001qfl.2_Intron|PRDM10_uc010sbx.1_Intron|PRDM10_uc001qfn.2_Intron|PRDM10_uc009zct.1_Intron	NM_020228	NP_064613			PR domain containing 10 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)														---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130287129	130287130	+	Intron	INS	-	TTAAA	TTAAA	rs146577586	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130287129_130287130insTTAAA	uc001qgg.3	-							NM_007037	NP_008968			ADAM metallopeptidase with thrombospondin type 1						negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)														---	---	---	---
OPCML	4978	broad.mit.edu	37	11	133355792	133355793	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133355792_133355793insT	uc001qgu.2	-							NM_001012393	NP_001012393			opioid binding protein/cell adhesion						cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)														---	---	---	---
TSPAN9	10867	broad.mit.edu	37	12	3392388	3392388	+	3'UTR	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3392388delC	uc001qlp.2	+	9						NM_006675	NP_006666			tetraspanin 9							integral to plasma membrane|membrane fraction				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)															---	---	---	---
LPCAT3	10162	broad.mit.edu	37	12	7092599	7092600	+	Frame_Shift_Ins	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7092599_7092600insA	uc001qsi.2	-	2	366_367	c.252_253insT	c.(250-255)TTTAACfs	p.F84fs	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Intron|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Intron	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	84_85	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1																		---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8203079	8203079	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8203079delC	uc001qtu.2	+							NM_018416	NP_060886			forkhead box J2						embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)														---	---	---	---
CSDA	8531	broad.mit.edu	37	12	10856825	10856825	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10856825delT	uc001qyt.2	-						CSDA_uc001qyu.2_Intron	NM_003651	NP_003642			cold shock domain protein A isoform a						negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)																	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14018581	14018581	+	Intron	DEL	A	-	-	rs74837716		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14018581delA	uc001rbt.2	-							NM_000834	NP_000825			N-methyl-D-aspartate receptor subunit 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
GYS2	2998	broad.mit.edu	37	12	21711388	21711389	+	Intron	INS	-	TG	TG			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21711388_21711389insTG	uc001rfb.2	-							NM_021957	NP_068776			glycogen synthase 2						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																		---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26568291	26568292	+	Frame_Shift_Ins	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26568291_26568292insA	uc001rhg.2	-	51	7667_7668	c.7250_7251insT	c.(7249-7251)TTGfs	p.L2417fs	ITPR2_uc009zjg.1_Frame_Shift_Ins_p.L568fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2417	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)																	---	---	---	---
TM7SF3	51768	broad.mit.edu	37	12	27152717	27152717	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27152717delA	uc010sjl.1	-							NM_016551	NP_057635			transmembrane 7 superfamily member 3 precursor							integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)																	---	---	---	---
PPFIBP1	8496	broad.mit.edu	37	12	27800899	27800899	+	Intron	DEL	A	-	-	rs112008008		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27800899delA	uc001ric.1	+						PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Intron|PPFIBP1_uc001ria.2_Intron|PPFIBP1_uc001rid.1_Intron	NM_003622	NP_003613			PTPRF interacting protein binding protein 1						cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)																	---	---	---	---
DENND5B	160518	broad.mit.edu	37	12	31585981	31585981	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31585981delT	uc001rki.1	-						DENND5B_uc001rkh.1_Intron|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_3'UTR	NM_144973	NP_659410			DENN/MADD domain containing 5B							integral to membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46211715	46211715	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46211715delT	uc001ros.1	+						ARID2_uc001ror.2_Intron	NM_152641	NP_689854			AT rich interactive domain 2 (ARID, RFX-like)						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)														---	---	---	---
ACVRL1	94	broad.mit.edu	37	12	52306155	52306155	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52306155delA	uc001rzj.2	+						ACVRL1_uc001rzk.2_5'UTR|ACVRL1_uc010snm.1_5'UTR	NM_000020	NP_000011			activin A receptor type II-like 1 precursor						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)									Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
KRT86	3892	broad.mit.edu	37	12	52648204	52648204	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52648204delT	uc010snq.1	+						uc010snr.1_Intron	NM_002284	NP_002275			keratin 86						cytoskeleton organization	keratin filament	structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
SP1	6667	broad.mit.edu	37	12	53773961	53773961	+	5'Flank	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53773961delC	uc001scw.2	+						SP1_uc010sog.1_5'Flank	NM_138473	NP_612482			Sp1 transcription factor isoform a						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)														---	---	---	---
COPZ1	22818	broad.mit.edu	37	12	54736176	54736176	+	Intron	DEL	T	-	-	rs75305601		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54736176delT	uc001sfs.1	+						COPZ1_uc001sft.2_Intron|COPZ1_uc009znm.1_Intron|COPZ1_uc010sot.1_Intron	NM_016057	NP_057141			coatomer protein complex, subunit zeta 1						COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol					0																		---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54910235	54910235	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54910235delT	uc001sgc.3	+						NCKAP1L_uc010sox.1_Intron|NCKAP1L_uc010soy.1_Intron	NM_005337	NP_005328			NCK-associated protein 1-like						actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54929042	54929042	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54929042delA	uc001sgc.3	+						NCKAP1L_uc010sox.1_Intron|NCKAP1L_uc010soy.1_Intron	NM_005337	NP_005328			NCK-associated protein 1-like						actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78362272	78362272	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78362272delT	uc001syp.2	+						NAV3_uc001syo.2_Intron	NM_014903	NP_055718			neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
CCDC41	51134	broad.mit.edu	37	12	94703662	94703662	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:94703662delT	uc001tdd.2	-						CCDC41_uc001tde.2_Intron	NM_016122	NP_057206			NY-REN-58 antigen												0																		---	---	---	---
CCDC41	51134	broad.mit.edu	37	12	94725476	94725477	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:94725476_94725477insT	uc001tdd.2	-	14	2292_2293	c.1706_1707insA	c.(1705-1707)AAGfs	p.K569fs	CCDC41_uc001tde.2_Frame_Shift_Ins_p.K569fs|CCDC41_uc009zsw.1_RNA	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	561	Potential.										0																		---	---	---	---
CCDC38	120935	broad.mit.edu	37	12	96284755	96284755	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:96284755delA	uc001tek.1	-							NM_182496	NP_872302			coiled-coil domain containing 38											skin(1)	1																		---	---	---	---
KIAA1033	23325	broad.mit.edu	37	12	105514301	105514301	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105514301delT	uc001tld.2	+						KIAA1033_uc010swr.1_Intron|KIAA1033_uc010sws.1_Intron	NM_015275	NP_056090			hypothetical protein LOC23325						endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2																		---	---	---	---
APPL2	55198	broad.mit.edu	37	12	105601642	105601642	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105601642delA	uc001tlf.1	-						APPL2_uc010swt.1_Intron|APPL2_uc001tlg.1_Intron|APPL2_uc010swu.1_Intron|APPL2_uc009zuq.2_Intron	NM_018171	NP_060641			adaptor protein, phosphotyrosine interaction, PH						cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	108203466	108203467	+	IGR	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108203466_108203467insT								ASCL4 (33046 upstream) : WSCD2 (320044 downstream)																																			---	---	---	---
ISCU	23479	broad.mit.edu	37	12	108959255	108959255	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108959255delT	uc010sxc.1	+						ISCU_uc010sxa.1_Intron|ISCU_uc010sxb.1_Intron|ISCU_uc001tnc.3_Intron|ISCU_uc009zuy.2_Intron|ISCU_uc010sxd.1_Intron	NM_213595	NP_998760			iron-sulfur cluster assembly enzyme isoform						iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold				0																		---	---	---	---
MVK	4598	broad.mit.edu	37	12	110017922	110017922	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110017922delT	uc001toy.3	+						MVK_uc009zvk.2_Intron|MVK_uc010sxr.1_Intron|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_Intron	NM_001114185	NP_001107657			mevalonate kinase						cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0																		---	---	---	---
TRPV4	59341	broad.mit.edu	37	12	110222322	110222322	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110222322delT	uc001tpj.1	-						TRPV4_uc001tpg.1_Intron|TRPV4_uc001tph.1_Intron|TRPV4_uc001tpi.1_Intron|TRPV4_uc001tpk.1_Intron|TRPV4_uc001tpl.1_Intron	NM_021625	NP_067638			transient receptor potential cation channel,						actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110465449	110465449	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110465449delT	uc001tpx.2	+						ANKRD13A_uc009zvl.1_Intron|ANKRD13A_uc010sxw.1_Intron|ANKRD13A_uc001tpy.2_Intron|ANKRD13A_uc001tpz.2_5'Flank|ANKRD13A_uc001tqa.2_5'Flank	NM_033121	NP_149112			ankyrin repeat domain 13												0																		---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110655832	110655832	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110655832delT	uc001tqi.2	+						IFT81_uc001tqh.2_Intron|IFT81_uc001tqj.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																		---	---	---	---
PTPN11	5781	broad.mit.edu	37	12	112884046	112884046	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112884046delT	uc001ttx.2	+						PTPN11_uc001ttw.1_Intron	NM_002834	NP_002825			protein tyrosine phosphatase, non-receptor type						axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392								Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome				---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114794044	114794045	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114794044_114794045insA	uc001tvo.2	-						TBX5_uc001tvp.2_Intron|TBX5_uc001tvq.2_Intron	NM_181486	NP_852259			T-box 5 isoform 1						cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)														---	---	---	---
FBXO21	23014	broad.mit.edu	37	12	117603583	117603584	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117603583_117603584delAA	uc001twk.2	-						FBXO21_uc001twj.2_Intron|FBXO21_uc009zwq.2_Intron|FBXO21_uc001twl.1_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)														---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117908878	117908878	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117908878delT	uc001two.2	-							NM_173598	NP_775869			kinase suppressor of ras 2						intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
CCDC64	92558	broad.mit.edu	37	12	120510172	120510172	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120510172delA	uc001txl.1	+						CCDC64_uc001txk.2_Intron|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Intron	NM_207311	NP_997194			coiled-coil domain containing 64						Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122716609	122716609	+	3'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122716609delA	uc001ucd.2	-	13					VPS33A_uc001ucc.2_Intron	NM_022916	NP_075067			vacuolar protein sorting 33A						lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)														---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123648650	123648650	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123648650delA	uc001uel.2	-						MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_Intron|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619			M-phase phosphoprotein 9						M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)														---	---	---	---
GTF2H3	2967	broad.mit.edu	37	12	124129986	124129986	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124129986delT	uc001ufo.1	+						GTF2H3_uc010tau.1_Intron	NM_001516	NP_001507			general transcription factor IIH, polypeptide 3,						mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)									NER					---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124337720	124337720	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124337720delT	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)														---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130831362	130831362	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130831362delA	uc001uik.2	+						PIWIL1_uc001uij.1_Intron	NM_004764	NP_004755			piwi-like 1						gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)														---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133378164	133378165	+	Intron	INS	-	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133378164_133378165insG	uc001ukz.1	-						GOLGA3_uc001ula.1_Intron|GOLGA3_uc001ulb.2_Intron	NM_005895	NP_005886			Golgi autoantigen, golgin subfamily a, 3						intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	19801216	19801216	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:19801216delT								TUBA3C (45280 upstream) : LOC100101938 (35725 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	13	21677699	21677699	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21677699delA								LATS2 (41977 upstream) : SAP18 (36954 downstream)																																			---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38248554	38248554	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38248554delA	uc001uws.2	-						TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Intron|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263			transient receptor potential cation channel,						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42500927	42500927	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42500927delG	uc001uyj.2	-						KIAA0564_uc001uyk.2_Intron	NM_015058	NP_055873			hypothetical protein LOC23078 isoform a							extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)														---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51527972	51527972	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									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)														---	---	---	---
ABCC4	10257	broad.mit.edu	37	13	95838868	95838868	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:95838868delA	uc001vmd.3	-						ABCC4_uc010afk.2_Intron|ABCC4_uc001vme.2_Intron|ABCC4_uc010tih.1_Intron|ABCC4_uc001vmf.2_Intron|ABCC4_uc010afl.1_Intron|ABCC4_uc010afm.1_Intron	NM_005845	NP_005836			ATP-binding cassette, sub-family C, member 4						platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)													---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99540398	99540398	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99540398delA	uc001vnt.2	-						DOCK9_uc001vnw.2_Intron|DOCK9_uc001vnv.1_Intron|DOCK9_uc010tir.1_Intron|DOCK9_uc010tis.1_Intron|DOCK9_uc010tit.1_Intron|DOCK9_uc010afu.1_Intron	NM_015296	NP_056111			dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101726039	101726040	+	Intron	INS	-	A	A	rs113354194		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101726039_101726040insA	uc001vox.1	-							NM_052867	NP_443099			voltage gated channel like 1							integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
TNFSF13B	10673	broad.mit.edu	37	13	108955486	108955486	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108955486delT	uc001vqr.2	+						TNFSF13B_uc010agj.2_Intron|TNFSF13B_uc001vqs.1_Intron	NM_006573	NP_006564			tumor necrosis factor superfamily, member 13b						cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)															---	---	---	---
RASA3	22821	broad.mit.edu	37	13	114839432	114839432	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114839432delT	uc001vui.2	-						RASA3_uc010tkk.1_Intron|RASA3_uc001vuj.2_Intron|RASA3_uc010tkl.1_Intron	NM_007368	NP_031394			RAS p21 protein activator 3						intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)															---	---	---	---
CDC16	8881	broad.mit.edu	37	13	115004335	115004335	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115004335delT	uc001vuk.1	+						CDC16_uc010tkm.1_Intron|CDC16_uc001vul.1_Intron|CDC16_uc001vum.1_Intron|CDC16_uc001vun.1_Intron|CDC16_uc001vuo.1_Intron	NM_003903	NP_003894			anaphase-promoting complex, subunit 6						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)															---	---	---	---
TTC5	91875	broad.mit.edu	37	14	20768989	20768989	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20768989delA	uc001vwt.2	-						TTC5_uc001vwu.2_Intron	NM_138376	NP_612385			tetratricopeptide repeat domain 5						DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)														---	---	---	---
PNP	4860	broad.mit.edu	37	14	20943125	20943125	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20943125delT	uc001vxo.3	+						PNP_uc010ahn.2_3'UTR|PNP_uc001vxn.3_Intron	NM_000270	NP_000261			nucleoside phosphorylase						immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			ovary(2)	2					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)													---	---	---	---
RAB2B	84932	broad.mit.edu	37	14	21931955	21931956	+	Intron	INS	-	A	A	rs11848193	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21931955_21931956insA	uc010tlt.1	-						RAB2B_uc010tls.1_Intron|RAB2B_uc001wax.2_Intron|RAB2B_uc010ain.2_Intron	NM_032846	NP_116235			RAB2B protein isoform 1						protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			ovary(1)	1	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)														---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24537638	24537638	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24537638delA	uc001wlj.2	+						LRRC16B_uc001wlk.2_Intron|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank	NM_138360	NP_612369			leucine rich repeat containing 16B											ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29236939	29236939	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:29236939delG	uc001wqe.2	+	1	653	c.454delG	c.(454-456)GGGfs	p.G152fs		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	152	Gly-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)														---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31583617	31583617	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31583617delA	uc001wrc.1	-						HECTD1_uc001wra.1_Intron|HECTD1_uc001wrb.1_Intron|HECTD1_uc001wrd.1_Intron	NM_015382	NP_056197			HECT domain containing 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)														---	---	---	---
SNX6	58533	broad.mit.edu	37	14	35078687	35078693	+	Intron	DEL	AAAAAAA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35078687_35078693delAAAAAAA	uc001wsf.1	-						SNX6_uc001wse.1_Intron|SNX6_uc010tpm.1_Intron|SNX6_uc010amm.1_Intron	NM_152233	NP_689419			sorting nexin 6 isoform b						cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity				0	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)														---	---	---	---
BRMS1L	84312	broad.mit.edu	37	14	36334268	36334268	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36334268delT	uc001wtl.2	+							NM_032352	NP_115728			breast cancer metastasis-suppressor 1-like						regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)														---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45624165	45624166	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45624165_45624166insT	uc001wwd.3	+						FANCM_uc001wwc.2_Intron|FANCM_uc010anf.2_Intron|FANCM_uc001wwe.3_Intron	NM_020937	NP_065988			Fanconi anemia, complementation group M						DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
SDCCAG1	9147	broad.mit.edu	37	14	50069063	50069063	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50069063delT	uc010anj.1	-						PPIL5_uc001wwn.2_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Intron|PPIL5_uc001wwp.2_Intron	NM_004713	NP_004704			serologically defined colon cancer antigen 1							cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)														---	---	---	---
ATL1	51062	broad.mit.edu	37	14	51088550	51088550	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51088550delT	uc001wyf.3	+						ATL1_uc001wyd.3_Intron|ATL1_uc001wye.3_Intron	NM_015915	NP_056999			atlastin GTPase 1 isoform a						axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			skin(3)|central_nervous_system(1)	4																		---	---	---	---
WDHD1	11169	broad.mit.edu	37	14	55408168	55408168	+	3'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55408168delA	uc001xbm.1	-	26					WDHD1_uc010aom.1_3'UTR|WDHD1_uc001xbn.1_3'UTR	NM_007086	NP_009017			WD repeat and HMG-box DNA binding protein 1							cytoplasm|nucleoplasm	DNA binding			skin(1)	1																		---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56096537	56096537	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:56096537delT	uc001xcb.2	+						KTN1_uc001xce.2_Intron|KTN1_uc001xcc.2_Intron|KTN1_uc001xcd.2_Intron|KTN1_uc010trb.1_Intron|KTN1_uc001xcf.1_Intron	NM_182926	NP_891556			kinectin 1 isoform a						microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7								T	RET	papillary thryoid								---	---	---	---
PPM1A	5494	broad.mit.edu	37	14	60756500	60756500	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60756500delA	uc010apn.2	+						PPM1A_uc001xew.3_Intron|PPM1A_uc001xey.3_Intron	NM_021003	NP_066283			protein phosphatase 1A isoform 1						cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)														---	---	---	---
HIF1A	3091	broad.mit.edu	37	14	62212360	62212360	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62212360delA	uc001xfq.2	+						HIF1A_uc001xfr.2_Intron|HIF1A_uc001xfs.2_Intron	NM_001530	NP_001521			hypoxia-inducible factor 1, alpha subunit						cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64457644	64457644	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64457644delT	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)														---	---	---	---
DNAL1	83544	broad.mit.edu	37	14	74153808	74153808	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									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)														---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514338	75514338	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75514338delT	uc001xrd.1	-	2	2237	c.2021delA	c.(2020-2022)AATfs	p.N674fs	MLH3_uc001xre.1_Frame_Shift_Del_p.N674fs|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	674					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)									MMR					---	---	---	---
NEK9	91754	broad.mit.edu	37	14	75553608	75553608	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75553608delA	uc001xrl.2	-						NEK9_uc001xrj.2_Intron|NEK9_uc001xrk.2_Intron	NM_033116	NP_149107			NIMA-related kinase 9						cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)														---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81652018	81652018	+	Intron	DEL	A	-	-	rs71931712		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81652018delA	uc001xvf.1	-						GTF2A1_uc010atb.1_Intron|GTF2A1_uc001xvg.1_Intron	NM_015859	NP_056943			TFIIA alpha, p55 isoform 1						regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)														---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81670162	81670162	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81670162delA	uc001xvf.1	-						GTF2A1_uc010atb.1_Intron|GTF2A1_uc001xvg.1_Intron|GTF2A1_uc001xvh.1_Intron|SNORA79_uc001xvi.1_5'Flank	NM_015859	NP_056943			TFIIA alpha, p55 isoform 1						regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)														---	---	---	---
SPATA7	55812	broad.mit.edu	37	14	88862579	88862579	+	Intron	DEL	A	-	-	rs149093540	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88862579delA	uc001xwq.2	+						SPATA7_uc001xwr.2_Intron	NM_018418	NP_060888			spermatogenesis-associated protein 7 isoform a						response to stimulus|visual perception					ovary(1)	1																		---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94079256	94079256	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94079256delA	uc001ybv.1	+	25	3486	c.3403delA	c.(3403-3405)AAGfs	p.K1135fs	KIAA1409_uc001ybs.1_Frame_Shift_Del_p.K1113fs	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1290						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	100430785	100430785	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100430785delA								EML1 (22392 upstream) : EVL (7366 downstream)																																			---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28479492	28479493	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28479492_28479493delAA	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	28751705	28751705	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28751705delT								GOLGA8G (114534 upstream) : WHAMML2 (231024 downstream)																																			---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34544637	34544637	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34544637delA	uc001zhw.2	-						SLC12A6_uc001zhv.2_Intron|SLC12A6_uc001zhx.2_Intron|SLC12A6_uc001zhy.2_Intron|SLC12A6_uc001zhz.2_Intron|SLC12A6_uc001zia.2_Intron|SLC12A6_uc001zib.2_Intron|SLC12A6_uc001zic.2_Intron|SLC12A6_uc010bau.2_Intron|SLC12A6_uc001zid.2_Intron|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Intron	NM_133647	NP_598408			solute carrier family 12, member 6 isoform a						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)													---	---	---	---
C15orf41	84529	broad.mit.edu	37	15	37002208	37002208	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:37002208delA	uc001zje.3	+						C15orf41_uc001zjd.2_Intron|C15orf41_uc010bbb.1_Intron|C15orf41_uc001zjf.2_Intron|C15orf41_uc010uci.1_Intron	NM_001130010	NP_001123482			hypothetical protein LOC84529 isoform 1								protein binding			pancreas(1)	1		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)														---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40462958	40462958	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40462958delA	uc001zkx.3	+							NM_001211	NP_001202			budding uninhibited by benzimidazoles 1 beta						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)				Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				---	---	---	---
DNAJC17	55192	broad.mit.edu	37	15	41071868	41071869	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41071868_41071869delAA	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)														---	---	---	---
INO80	54617	broad.mit.edu	37	15	41364284	41364284	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41364284delA	uc001zni.2	-						INO80_uc010ucu.1_Intron	NM_017553	NP_060023			INO80 complex homolog 1						cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48818462	48818462	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48818462delA	uc001zwx.1	-							NM_000138	NP_000129			fibrillin 1 precursor						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
USP50	373509	broad.mit.edu	37	15	50833545	50833546	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50833545_50833546insA	uc001zyq.3	-							NM_203494	NP_987090			ubiquitin specific protease 50						ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			lung(1)|breast(1)	2				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)														---	---	---	---
ADAM10	102	broad.mit.edu	37	15	59009931	59009931	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59009931delA	uc002afd.1	-						ADAM10_uc010bgc.1_Intron|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_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)														---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63014438	63014438	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63014438delT	uc002alb.3	+							NM_015059	NP_055874			talin 2						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																		---	---	---	---
IQCH	64799	broad.mit.edu	37	15	67652380	67652380	+	Intron	DEL	A	-	-	rs62987161		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67652380delA	uc002aqo.1	+						IQCH_uc010ujv.1_Intron|IQCH_uc002aqn.1_Intron|IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron	NM_001031715	NP_001026885			IQ motif containing H isoform 1											skin(3)|ovary(1)	4				Colorectal(3;0.0856)														---	---	---	---
SENP8	123228	broad.mit.edu	37	15	72427038	72427039	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72427038_72427039insA	uc002atp.2	+							NM_145204	NP_660205			SUMO/sentrin specific peptidase family member 8						proteolysis		cysteine-type peptidase activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	76039782	76039784	+	IGR	DEL	AAA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:76039782_76039784delAAA								DNM1P35 (7280 upstream) : UBE2Q2 (95838 downstream)																																			---	---	---	---
PSTPIP1	9051	broad.mit.edu	37	15	77310786	77310786	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77310786delT	uc002bcf.2	+						PSTPIP1_uc010bkt.1_Intron|PSTPIP1_uc010umo.1_Intron|PSTPIP1_uc010bku.1_Intron|PSTPIP1_uc002bcg.2_Intron|PSTPIP1_uc010bkv.1_Intron|PSTPIP1_uc010bkw.1_Intron	NM_003978	NP_003969			proline-serine-threonine phosphatase interacting						cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			ovary(1)	1																		---	---	---	---
MTHFS	10588	broad.mit.edu	37	15	80181808	80181808	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80181808delA	uc002bex.3	-							NM_006441	NP_006432			5,10-methenyltetrahydrofolate synthetase						folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)														---	---	---	---
BNC1	646	broad.mit.edu	37	15	83935885	83935885	+	Intron	DEL	A	-	-	rs78524914		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83935885delA	uc002bjt.1	-						BNC1_uc010uos.1_Intron	NM_001717	NP_001708			basonuclin 1						epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86077163	86077163	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86077163delT	uc002blv.1	+						AKAP13_uc002bls.2_Frame_Shift_Del_p.L177fs|AKAP13_uc002blt.1_Intron|AKAP13_uc002blu.1_Intron	NM_007200	NP_009131			A-kinase anchor protein 13 isoform 2						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9																		---	---	---	---
C15orf42	90381	broad.mit.edu	37	15	90142543	90142543	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90142543delT	uc002boe.2	+							NM_152259	NP_689472			leucine-rich repeat kinase 1						cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---
RHOT2	89941	broad.mit.edu	37	16	718432	718432	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:718432delG	uc002cip.2	+						RHOT2_uc010uum.1_Intron|RHOT2_uc002ciq.2_Intron|RHOT2_uc010bqy.2_5'Flank	NM_138769	NP_620124			ras homolog gene family, member T2						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)																---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1612146	1612146	+	Intron	DEL	T	-	-	rs79682362		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1612146delT	uc002cmb.2	-						IFT140_uc002clz.2_Intron	NM_014714	NP_055529			intraflagellar transport 140											ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)																---	---	---	---
TBL3	10607	broad.mit.edu	37	16	2027950	2027951	+	Intron	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2027950_2027951insC	uc002cnu.1	+						TBL3_uc002cnv.1_Intron|TBL3_uc010bsb.1_Intron|TBL3_uc010bsc.1_Intron|TBL3_uc010uvt.1_Intron|TBL3_uc002cnw.1_Intron	NM_006453	NP_006444			transducin beta-like 3						G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0																		---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2342075	2342076	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2342075_2342076delAA	uc002cpy.1	-						ABCA3_uc010bsk.1_Intron|ABCA3_uc010bsl.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)																---	---	---	---
SRL	6345	broad.mit.edu	37	16	4254407	4254408	+	Intron	INS	-	ACAGCCCCGGCCTCTA	ACAGCCCCGGCCTCTA	rs149166462	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4254407_4254408insACAGCCCCGGCCTCTA	uc002cvz.3	-						SRL_uc002cvy.3_Intron	NM_001098814	NP_001092284			sarcalumenin							sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	7987448	7987449	+	IGR	INS	-	CTTC	CTTC	rs138580127	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:7987448_7987449insCTTC								A2BP1 (224108 upstream) : TMEM114 (632054 downstream)																																			---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11154578	11154578	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11154578delT	uc002dao.2	+						CLEC16A_uc002dan.3_Intron	NM_015226	NP_056041			C-type lectin domain family 16, member A											ovary(1)|central_nervous_system(1)	2																		---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17451988	17451989	+	Intron	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:17451988_17451989delTT	uc002dfa.2	-							NM_022166	NP_071449			xylosyltransferase I						glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4																		---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18883764	18883764	+	Intron	DEL	A	-	-	rs117332168	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18883764delA	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																		---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21045454	21045454	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21045454delC	uc010vbe.1	-							NM_017539	NP_060009			dynein, axonemal, heavy chain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21092856	21092856	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21092856delA	uc010vbe.1	-							NM_017539	NP_060009			dynein, axonemal, heavy chain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
IGSF6	10261	broad.mit.edu	37	16	21652762	21652762	+	3'UTR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21652762delT	uc002djg.1	-	6					uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron	NM_005849	NP_005840			immunoglobulin superfamily, member 6 precursor						cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0				GBM - Glioblastoma multiforme(48;0.066)														---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24788148	24788148	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24788148delT	uc002dmm.2	+						TNRC6A_uc010bxs.2_5'Flank	NM_014494	NP_055309			trinucleotide repeat containing 6A						negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)														---	---	---	---
Unknown	0	broad.mit.edu	37	16	32772158	32772158	+	5'Flank	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:32772158delT	uc010vfy.1	+											H.sapiens mRNA sequence (16p11.2).																														---	---	---	---
Unknown	0	broad.mit.edu	37	16	33781573	33781574	+	5'Flank	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:33781573_33781574insT	uc010vgb.1	+											RecName: Full=Transporter;																														---	---	---	---
OGFOD1	55239	broad.mit.edu	37	16	56492433	56492433	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56492433delT	uc002ejb.2	+						OGFOD1_uc002ejc.2_Intron	NM_018233	NP_060703			2-oxoglutarate and iron-dependent oxygenase								iron ion binding|L-ascorbic acid 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			skin(1)	1					Vitamin C(DB00126)													---	---	---	---
CPNE2	221184	broad.mit.edu	37	16	57168528	57168529	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57168528_57168529insA	uc002eks.1	+						CPNE2_uc010cct.1_Intron|CPNE2_uc010ccu.1_Intron|CPNE2_uc002ekt.1_Intron	NM_152727	NP_689940			copine II											central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)																---	---	---	---
FAM192A	80011	broad.mit.edu	37	16	57206385	57206385	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57206385delA	uc010vhk.1	-						FAM192A_uc002ekz.3_Intron|FAM192A_uc002ekv.3_Intron|FAM192A_uc002ekw.3_Intron|FAM192A_uc002ekx.3_Intron|FAM192A_uc002eky.3_Intron|FAM192A_uc010ccx.2_Intron	NM_024946	NP_079222			NEFA-interacting nuclear protein NIP30							nucleus					0																		---	---	---	---
LRRC36	55282	broad.mit.edu	37	16	67409042	67409043	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67409042_67409043delAA	uc002esv.2	+						LRRC36_uc002esw.2_Intron|LRRC36_uc002esx.2_Intron|LRRC36_uc010vjk.1_Intron|LRRC36_uc010vjl.1_Intron|LRRC36_uc002esy.2_Intron	NM_018296	NP_060766			leucine rich repeat containing 36 isoform 1												0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)														---	---	---	---
CYB5B	80777	broad.mit.edu	37	16	69481238	69481239	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69481238_69481239insA	uc002exg.1	+						CYB5B_uc002exf.2_Intron|CYB5B_uc010cfl.1_Intron	NM_030579	NP_085056			cytochrome b5 outer mitochondrial membrane						electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding				0		Ovarian(137;0.101)																---	---	---	---
MTSS1L	92154	broad.mit.edu	37	16	70710943	70710944	+	Intron	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70710943_70710944insC	uc002ezj.2	-						MTSS1L_uc002ezk.1_Intron	NM_138383	NP_612392			metastasis suppressor 1-like						filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1																		---	---	---	---
KIAA0174	9798	broad.mit.edu	37	16	71949731	71949731	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71949731delT	uc002fbj.1	+						KIAA0174_uc010cgh.1_Intron|KIAA0174_uc002fbk.1_Intron|KIAA0174_uc002fbm.1_Intron|KIAA0174_uc002fbl.1_Intron|KIAA0174_uc002fbn.1_Intron|KIAA0174_uc010cgi.1_Intron|KIAA0174_uc010cgj.1_5'Flank|KIAA0174_uc010vmk.1_Intron					SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;						cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	72763869	72763871	+	Intron	DEL	AAA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72763869_72763871delAAA	uc002fcj.1	+											Homo sapiens cDNA FLJ11501 fis, clone HEMBA1002100.																														---	---	---	---
CTRB1	1504	broad.mit.edu	37	16	75256657	75256657	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75256657delC	uc002fds.2	+							NM_001906	NP_001897			chymotrypsin B1 precursor												0				BRCA - Breast invasive adenocarcinoma(221;0.166)														---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76554899	76554899	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:76554899delA	uc002feu.1	+						CNTNAP4_uc002fev.1_Intron|CNTNAP4_uc010chb.1_Intron|CNTNAP4_uc002fex.1_Intron	NM_033401	NP_207837			cell recognition protein CASPR4 isoform 1						cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
GAN	8139	broad.mit.edu	37	16	81385170	81385170	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81385170delT	uc002fgo.2	+							NM_022041	NP_071324			gigaxonin						cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)																---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81954790	81954790	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81954790delT	uc002fgt.2	+						PLCG2_uc010chg.1_Intron	NM_002661	NP_002652			phospholipase C, gamma 2						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																		---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87866663	87866663	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87866663delG	uc002fkm.2	-							NM_003486	NP_003477			solute carrier family 7 (cationic amino acid						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)														---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3844139	3844139	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3844139delT	uc002fxb.1	-						ATP2A3_uc002fwx.1_Intron|ATP2A3_uc002fwy.1_Intron|ATP2A3_uc002fwz.1_Intron|ATP2A3_uc002fxa.1_Intron|ATP2A3_uc002fxc.1_Intron|ATP2A3_uc002fxd.1_Intron	NM_174955	NP_777615			ATPase, Ca++ transporting, ubiquitous isoform b						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)														---	---	---	---
RABEP1	9135	broad.mit.edu	37	17	5284683	5284683	+	Splice_Site	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5284683delG	uc002gbm.3	+	17	2595	c.2371_splice	c.e17-1	p.A791_splice	RABEP1_uc010vsw.1_Splice_Site_p.A748_splice|RABEP1_uc002gbl.3_Splice_Site_p.A758_splice|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694			rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
DERL2	51009	broad.mit.edu	37	17	5386208	5386208	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5386208delA	uc002gcc.1	-							NM_016041	NP_057125			Der1-like domain family, member 2						endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding				0																		---	---	---	---
FAM64A	54478	broad.mit.edu	37	17	6350599	6350599	+	Intron	DEL	T	-	-	rs113827676		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6350599delT	uc002gcw.1	+						FAM64A_uc002gct.1_Intron|FAM64A_uc002gcu.1_Intron|FAM64A_uc002gcv.1_Intron|FAM64A_uc002gcx.1_Intron|FAM64A_uc002gcy.1_Intron|FAM64A_uc002gcz.1_Intron|FAM64A_uc002gda.1_Intron|FAM64A_uc002gdb.1_Intron	NM_019013	NP_061886			family with sequence similarity 64, member A							nucleolus	protein binding				0				COAD - Colon adenocarcinoma(228;0.141)														---	---	---	---
Unknown	0	broad.mit.edu	37	17	6464640	6464641	+	IGR	INS	-	CTC	CTC	rs143155894	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6464640_6464641insCTC								PITPNM3 (4763 upstream) : KIAA0753 (17005 downstream)																																			---	---	---	---
STX8	9482	broad.mit.edu	37	17	9471827	9471827	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9471827delT	uc002glx.2	-							NM_004853	NP_004844			syntaxin 8						transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1																		---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12626278	12626278	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:12626278delA	uc002gnn.2	+	5	667	c.368delA	c.(367-369)GAAfs	p.E123fs	MYOCD_uc002gno.2_Frame_Shift_Del_p.E123fs|MYOCD_uc002gnp.1_Frame_Shift_Del_p.E27fs	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	123	RPEL 3.				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)														---	---	---	---
COX10	1352	broad.mit.edu	37	17	14005360	14005361	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14005360_14005361insT	uc002gof.3	+						COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_Intron	NM_001303	NP_001294			heme A:farnesyltransferase precursor						heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)														---	---	---	---
Unknown	0	broad.mit.edu	37	17	18988562	18988562	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18988562delT								GRAP (38226 upstream) : GRAPL (42220 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	17	25991720	25991720	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:25991720delA								LGALS9 (15135 upstream) : NOS2 (92073 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	17	26601927	26601928	+	IGR	INS	-	C	C	rs139096588	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26601927_26601928insC								PPY2 (26613 upstream) : FLJ40504 (1680 downstream)																																			---	---	---	---
SDF2	6388	broad.mit.edu	37	17	26976466	26976467	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26976466_26976467insA	uc002hbw.2	-						SDF2_uc002hbx.2_Intron	NM_006923	NP_008854			stromal cell-derived factor 2 precursor						protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity				0	Lung NSC(42;0.00431)																	---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27449277	27449278	+	Intron	DEL	AG	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27449277_27449278delAG	uc002hdt.1	-						MYO18A_uc010wbc.1_5'Flank|MYO18A_uc002hds.2_Intron|MYO18A_uc010csa.1_Intron|MYO18A_uc002hdu.1_Intron|MYO18A_uc010wbd.1_Intron	NM_078471	NP_510880			myosin 18A isoform a						anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)															---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27818684	27818684	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27818684delT	uc002hdz.1	+						TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Intron|TAOK1_uc002heb.1_Intron	NM_020791	NP_065842			TAO kinase 1						mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---
NF1	4763	broad.mit.edu	37	17	29676348	29676349	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29676348_29676349insT	uc002hgg.2	+						NF1_uc002hgh.2_Intron|NF1_uc010cso.2_Intron|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Intron	NM_001042492	NP_001035957			neurofibromin isoform 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)				D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	---	---	---
ACACA	31	broad.mit.edu	37	17	35633807	35633807	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35633807delA	uc002hnm.2	-						ACACA_uc002hnk.2_Intron|ACACA_uc002hnl.2_Intron|ACACA_uc002hnn.2_Intron|ACACA_uc002hno.2_Intron|ACACA_uc010cuz.2_Intron|ACACA_uc002hnq.2_Intron	NM_198836	NP_942133			acetyl-Coenzyme A carboxylase alpha isoform 2						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)													---	---	---	---
TADA2A	6871	broad.mit.edu	37	17	35787142	35787142	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35787142delT	uc002hnt.2	+						TADA2A_uc002hnu.1_Intron|TADA2A_uc002hnv.2_Intron|TADA2A_uc010wdd.1_Intron|TADA2A_uc002hnw.2_Intron	NM_001488	NP_001479			transcriptional adaptor 2A isoform a						histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4																		---	---	---	---
KRT12	3859	broad.mit.edu	37	17	39022832	39022832	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39022832delA	uc002hvk.2	-							NM_000223	NP_000214			keratin 12						visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)																---	---	---	---
Unknown	0	broad.mit.edu	37	17	39369047	39369047	+	IGR	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39369047delC								KRTAP4-1 (5921 upstream) : KRTAP9-2 (13853 downstream)																																			---	---	---	---
NAGLU	4669	broad.mit.edu	37	17	40685495	40685495	+	5'Flank	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40685495delT	uc002hzv.2	+							NM_000263	NP_000254			alpha-N-acetylglucosaminidase precursor							lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)													---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40851054	40851054	+	3'UTR	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40851054delC	uc002iay.2	+	24					CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623			contactin associated protein 1 precursor						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)														---	---	---	---
EZH1	2145	broad.mit.edu	37	17	40866696	40866696	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40866696delA	uc002iaz.2	-						EZH1_uc002iba.2_Intron|EZH1_uc010wgt.1_Intron|EZH1_uc010wgu.1_Intron|EZH1_uc010wgv.1_Intron|EZH1_uc010wgw.1_Intron|EZH1_uc010cyp.2_Intron|EZH1_uc010cyq.2_Intron|EZH1_uc010cys.2_Intron|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_Intron	NM_001991	NP_001982			enhancer of zeste homolog 1						anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)														---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42512617	42512617	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42512617delA	uc002igw.1	-						GPATCH8_uc002igv.1_Intron|GPATCH8_uc010wiz.1_Intron	NM_001002909	NP_001002909			G patch domain containing 8							intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)														---	---	---	---
CDC27	996	broad.mit.edu	37	17	45236807	45236807	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45236807delT	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																		---	---	---	---
CDC27	996	broad.mit.edu	37	17	45249513	45249513	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45249513delA	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																		---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48272956	48272956	+	Frame_Shift_Del	DEL	G	-	-	rs72645369		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48272956delG	uc002iqm.2	-	17	1253	c.1127delC	c.(1126-1128)CCTfs	p.P376fs		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	376	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49072748	49072749	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:49072748_49072749insA	uc002itc.2	-						SPAG9_uc002itb.2_Intron|SPAG9_uc002itd.2_Intron|SPAG9_uc002itf.2_Intron|SPAG9_uc002ita.2_Intron|SPAG9_uc002ite.2_Intron	NM_001130528	NP_001124000			sperm associated antigen 9 isoform 1						positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)															---	---	---	---
MSI2	124540	broad.mit.edu	37	17	55334794	55334794	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:55334794delC	uc002iuz.1	+						MSI2_uc010wnm.1_Intron|MSI2_uc002iva.2_Intron	NM_138962	NP_620412			musashi 2 isoform a							cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|pancreas(1)	2	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)				T	HOXA9	CML								---	---	---	---
SFRS1	6426	broad.mit.edu	37	17	56083347	56083347	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56083347delT	uc002ivi.2	-						SFRS1_uc002ivj.2_Intron	NM_006924	NP_008855			splicing factor, arginine/serine-rich 1 isoform						mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)														---	---	---	---
INTS2	57508	broad.mit.edu	37	17	59974795	59974796	+	Intron	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59974795_59974796delTT	uc002izn.2	-						INTS2_uc002izm.2_Intron	NM_020748	NP_065799			integrator complex subunit 2						snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3																		---	---	---	---
EFCAB3	146779	broad.mit.edu	37	17	60460528	60460528	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60460528delA	uc002izu.1	+						EFCAB3_uc010wpc.1_Intron	NM_173503	NP_775774			EF-hand calcium binding domain 3 isoform b								calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)															---	---	---	---
SMURF2	64750	broad.mit.edu	37	17	62541849	62541855	+	3'UTR	DEL	AAAGGGG	-	-	rs59188589		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62541849_62541855delAAAGGGG	uc002jep.1	-	19					SMURF2_uc002jeq.1_3'UTR|SMURF2_uc002jer.1_3'UTR	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)															---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65156546	65156547	+	Intron	DEL	AA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65156546_65156547delAA	uc010wqk.1	-						HELZ_uc002jfv.3_Intron|HELZ_uc002jfx.3_Intron	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)																	---	---	---	---
FOXJ1	2302	broad.mit.edu	37	17	74136150	74136150	+	Frame_Shift_Del	DEL	G	-	-	rs145296122	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74136150delG	uc002jqw.2	-	1	417	c.327delC	c.(325-327)CCCfs	p.P109fs	FOXJ1_uc002jqx.2_Frame_Shift_Del_p.P109fs|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	109					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76087408	76087408	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76087408delA	uc002jud.2	+						TNRC6C_uc002juf.2_Intron	NM_018996	NP_061869			trinucleotide repeat containing 6C isoform 2						gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)															---	---	---	---
Unknown	0	broad.mit.edu	37	17	76490463	76490463	+	5'Flank	DEL	C	-	-	rs34910684		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76490463delC	uc002jvt.1	+											Homo sapiens cDNA FLJ45552 fis, clone BRTHA2038279.																														---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78516456	78516457	+	5'Flank	DEL	AA	-	-	rs143567101		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78516456_78516457delAA	uc002jyt.1	+						RPTOR_uc002jys.2_5'Flank|RPTOR_uc010wuf.1_5'Flank|RPTOR_uc010wug.1_5'Flank|RPTOR_uc002jyr.1_5'Flank	NM_020761	NP_065812			raptor isoform 1						cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6																		---	---	---	---
THOC1	9984	broad.mit.edu	37	18	265348	265348	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:265348delT	uc002kkj.3	-	3	184	c.144delA	c.(142-144)AAAfs	p.K48fs	THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Frame_Shift_Del_p.K48fs	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	48					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)																---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	334972	334972	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:334972delG	uc002kkm.2	-	6	1801	c.1586delC	c.(1585-1587)CCGfs	p.P529fs		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	529	Collagen-like 2.|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)																---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3134953	3134954	+	Intron	INS	-	TT	TT			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3134953_3134954insTT	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																		---	---	---	---
NAPG	8774	broad.mit.edu	37	18	10546294	10546294	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10546294delT	uc002kon.2	+						NAPG_uc010wzr.1_Intron|NAPG_uc002koo.2_Intron|NAPG_uc002kop.2_Intron	NM_003826	NP_003817			N-ethylmaleimide-sensitive factor attachment						cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0																		---	---	---	---
PTPN2	5771	broad.mit.edu	37	18	12836668	12836668	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12836668delA	uc002krp.2	-						PTPN2_uc002krl.2_Intron|PTPN2_uc002krn.2_Intron|PTPN2_uc002kro.2_Intron|PTPN2_uc002krm.2_Intron	NM_002828	NP_002819			protein tyrosine phosphatase, non-receptor type						interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			skin(2)	2		Lung NSC(161;8.94e-06)																---	---	---	---
ABHD3	171586	broad.mit.edu	37	18	19284677	19284678	+	5'UTR	INS	-	GAGCGGGCGA	GAGCGGGCGA	rs150746310	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19284677_19284678insGAGCGGGCGA	uc002ktl.2	-	1					ABHD3_uc002ktm.2_5'UTR|ABHD3_uc010xao.1_RNA|MIB1_uc002ktp.2_5'Flank|ABHD3_uc002kto.2_5'UTR	NM_138340	NP_612213			alpha/beta hydrolase domain containing protein							integral to membrane	carboxylesterase activity			central_nervous_system(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	18	25032717	25032717	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:25032717delT	uc002kwf.1	-											Homo sapiens cDNA FLJ45994 fis, clone SKMUS2009557.																														---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43437679	43437680	+	Intron	INS	-	T	T	rs143918507		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43437679_43437680insT	uc002lbm.2	-							NM_020964	NP_066015			hypothetical protein LOC57724						autophagy						0																		---	---	---	---
ATP5A1	498	broad.mit.edu	37	18	43670052	43670052	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43670052delG	uc002lbr.1	-						ATP5A1_uc010dnl.1_Intron|ATP5A1_uc002lbs.1_Intron|ATP5A1_uc002lbt.1_Intron|ATP5A1_uc010xct.1_Intron|ATP5A1_uc010dnm.1_Intron	NM_004046	NP_004037			ATP synthase, H+ transporting, mitochondrial F1						ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0																		---	---	---	---
KIAA0427	9811	broad.mit.edu	37	18	46284491	46284491	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:46284491delG	uc002ldc.2	+	8	1071	c.786delG	c.(784-786)AAGfs	p.K262fs	KIAA0427_uc002ldd.2_Frame_Shift_Del_p.K262fs|KIAA0427_uc002lde.3_5'Flank	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	262	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	18	55686289	55686289	+	IGR	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55686289delC								ATP8B1 (287250 upstream) : NEDD4L (25330 downstream)																																			---	---	---	---
APC2	10297	broad.mit.edu	37	19	1452863	1452863	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1452863delC	uc002lsr.1	+						APC2_uc002lss.1_Intron|APC2_uc002lst.1_5'UTR|APC2_uc002lsu.1_5'UTR	NM_005883	NP_005874			adenomatosis polyposis coli 2						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)														---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2877213	2877213	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2877213delA	uc002lwp.1	+						ZNF556_uc002lwq.2_Intron	NM_024967	NP_079243			zinc finger protein 556						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	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)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
NFIC	4782	broad.mit.edu	37	19	3452345	3452346	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3452345_3452346insT	uc010xhi.1	+						NFIC_uc002lxo.2_Intron|NFIC_uc010xhh.1_Intron|NFIC_uc002lxp.2_Intron|NFIC_uc010xhj.1_Intron	NM_205843	NP_995315			nuclear factor I/C isoform 2						DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)														---	---	---	---
PIAS4	51588	broad.mit.edu	37	19	4033640	4033640	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4033640delC	uc002lzg.2	+							NM_015897	NP_056981			protein inhibitor of activated STAT, 4						positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5594281	5594281	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									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)														---	---	---	---
KIAA1543	57662	broad.mit.edu	37	19	7670103	7670103	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7670103delC	uc002mgv.3	+						KIAA1543_uc002mgu.3_Intron	NM_020902	NP_065953			NEZHA isoform 2						epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1																		---	---	---	---
CCL25	6370	broad.mit.edu	37	19	8126931	8126933	+	Intron	DEL	AAA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8126931_8126933delAAA	uc002mjd.2	+						CCL25_uc002mjc.3_Intron	NM_005624	NP_005615			small inducible cytokine A25 precursor						chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity				0																		---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10089452	10089452	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10089452delT	uc002mmq.1	-							NM_015719	NP_056534			collagen, type V, alpha 3 preproprotein						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)															---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10091542	10091542	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10091542delA	uc002mmq.1	-							NM_015719	NP_056534			collagen, type V, alpha 3 preproprotein						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)															---	---	---	---
Unknown	0	broad.mit.edu	37	19	10377498	10377499	+	IGR	DEL	TT	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10377498_10377499delTT								MRPL4 (6764 upstream) : ICAM1 (4018 downstream)																																			---	---	---	---
TMEM205	374882	broad.mit.edu	37	19	11455832	11455832	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11455832delT	uc002mrb.2	-						TMEM205_uc002mra.2_Intron|TMEM205_uc002mqz.2_Intron|TMEM205_uc002mrc.2_Intron|CCDC159_uc010xlr.1_5'Flank|CCDC159_uc010xls.1_5'Flank|CCDC159_uc010xlt.1_5'Flank|CCDC159_uc010xlu.1_5'Flank|CCDC159_uc010xlv.1_5'Flank	NM_001145416	NP_001138888			transmembrane protein 205							integral to membrane					0																		---	---	---	---
SYCE2	256126	broad.mit.edu	37	19	13028934	13028934	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13028934delA	uc002mvr.2	-							NM_001105578	NP_001099048			synaptonemal complex central element protein 2						cell division	central element					0																		---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14034006	14034006	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14034006delA	uc002mxo.2	+						CC2D1A_uc002mxp.2_Intron|CC2D1A_uc010dzh.2_Intron|CC2D1A_uc002mxq.1_Intron	NM_017721	NP_060191			coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14270790	14270790	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14270790delG	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	14762192	14762192	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14762192delA	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																		---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14876863	14876863	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14876863delC	uc002mzp.1	-						EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Intron|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron	NM_013447	NP_038475			egf-like module containing, mucin-like, hormone						cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4																		---	---	---	---
EPS15L1	58513	broad.mit.edu	37	19	16524425	16524426	+	Intron	DEL	AA	-	-	rs75423168		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16524425_16524426delAA	uc002ndz.1	-						EPS15L1_uc002ndx.2_Intron|EPS15L1_uc002ndy.2_Intron|EPS15L1_uc010xpe.1_Intron|EPS15L1_uc010xpf.1_Intron|EPS15L1_uc002nea.1_Intron|EPS15L1_uc010eah.1_Intron|EPS15L1_uc002neb.1_Intron|EPS15L1_uc002nec.1_Intron	NM_021235	NP_067058			epidermal growth factor receptor pathway						endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5																		---	---	---	---
CALR3	125972	broad.mit.edu	37	19	16591362	16591362	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16591362delA	uc002ned.2	-						MED26_uc002nee.2_Intron	NM_145046	NP_659483			calreticulin 3 precursor						protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0																		---	---	---	---
CALR3	125972	broad.mit.edu	37	19	16596143	16596143	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16596143delT	uc002ned.2	-						MED26_uc002nee.2_Intron	NM_145046	NP_659483			calreticulin 3 precursor						protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0																		---	---	---	---
SF4	57794	broad.mit.edu	37	19	19415024	19415025	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19415024_19415025insT	uc002nmh.2	-						SF4_uc002nmf.2_5'Flank|SF4_uc002nmg.2_5'Flank|SF4_uc002nmi.2_Intron|SF4_uc002nmj.2_Intron|SF4_uc010xqr.1_Intron|SF4_uc010xqs.1_Intron	NM_172231	NP_757386			splicing factor 4						nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0																		---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19741198	19741198	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19741198delC	uc002nnd.2	-						LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Intron|GMIP_uc010xrc.1_Intron	NM_016573	NP_057657			GEM interacting protein						negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	19	23317115	23317115	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23317115delT	uc002nrb.1	+											Homo sapiens cDNA FLJ16640 fis, clone TESTI4028938, moderately similar to Zinc finger protein 85.																														---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36357214	36357214	+	Frame_Shift_Del	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36357214delC	uc002ocb.3	+	15	2159	c.1947delC	c.(1945-1947)GTCfs	p.V649fs	KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Frame_Shift_Del_p.V596fs|KIRREL2_uc002ocd.3_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	649	Pro-rich.|Cytoplasmic (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	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)															---	---	---	---
AKT2	208	broad.mit.edu	37	19	40744648	40744649	+	Intron	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40744648_40744649insC	uc002onf.2	-						AKT2_uc010egs.2_Intron|AKT2_uc010egt.2_Intron|AKT2_uc010xvj.1_Intron|AKT2_uc010egu.1_Intron|AKT2_uc002one.2_Intron	NM_001626	NP_001617			AKT2 kinase						insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)					A		ovarian|pancreatic 								---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41072284	41072285	+	Intron	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41072284_41072285insC	uc002ony.2	+						SPTBN4_uc002onz.2_Intron|SPTBN4_uc010egx.2_Intron	NM_020971	NP_066022			spectrin, beta, non-erythrocytic 4 isoform						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	41118961	41118961	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41118961delC	uc002ooh.1	+						LTBP4_uc002oog.1_Intron|LTBP4_uc002ooi.1_Intron|LTBP4_uc002ooj.1_Intron|LTBP4_uc010xvo.1_Intron|LTBP4_uc010ehb.1_Intron|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009			latent transforming growth factor beta binding						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)															---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795962	42795962	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42795962delT	uc002otf.1	+							NM_015125	NP_055940			capicua homolog						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)						T	DUX4	soft tissue sarcoma								---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44280870	44280870	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44280870delT	uc002oxl.2	-						KCNN4_uc010eiz.2_5'Flank|KCNN4_uc010eja.1_Intron	NM_002250	NP_002241			intermediate conductance calcium-activated						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)													---	---	---	---
APOC4	346	broad.mit.edu	37	19	45448708	45448708	+	3'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45448708delA	uc002pag.1	+	3					APOC2_uc002pah.2_5'Flank	NM_001646	NP_001637			apolipoprotein C-IV precursor						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)	1	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)														---	---	---	---
CKM	1158	broad.mit.edu	37	19	45822685	45822685	+	Intron	DEL	C	-	-	rs68016783		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									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)													---	---	---	---
GIPR	2696	broad.mit.edu	37	19	46177864	46177864	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46177864delA	uc002pcu.1	+						GIPR_uc002pct.1_Intron|GIPR_uc010xxp.1_Intron|GIPR_uc010xxq.1_Intron|MIR642_hsa-mir-642|MI0003657_5'Flank	NM_000164	NP_000155			gastric inhibitory polypeptide receptor						generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)														---	---	---	---
AP2A1	160	broad.mit.edu	37	19	50309360	50309360	+	Intron	DEL	C	-	-	rs140228845	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50309360delC	uc002ppn.2	+						AP2A1_uc002ppo.2_Intron|AP2A1_uc010enk.2_Intron	NM_014203	NP_055018			adaptor-related protein complex 2, alpha 1						axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)														---	---	---	---
VRK3	51231	broad.mit.edu	37	19	50482544	50482544	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50482544delC	uc002prg.2	-						VRK3_uc002prh.1_Intron|VRK3_uc002pri.1_Intron|VRK3_uc010ens.2_Intron|VRK3_uc010ybl.1_Intron|VRK3_uc010ybm.1_Intron	NM_016440	NP_057524			vaccinia related kinase 3 isoform 1							nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)														---	---	---	---
Unknown	0	broad.mit.edu	37	19	53833024	53833025	+	IGR	DEL	TT	-	-	rs112929393		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53833024_53833025delTT								BIRC8 (38149 upstream) : ZNF845 (3977 downstream)																																			---	---	---	---
KIR2DL3	3804	broad.mit.edu	37	19	55251899	55251899	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55251899delC	uc002qgv.2	+						KIR2DL3_uc002qgx.2_Intron|KIR2DL3_uc002qgy.2_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.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)														---	---	---	---
ZNF524	147807	broad.mit.edu	37	19	56113688	56113688	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56113688delG	uc002qlk.1	+	2	293	c.210delG	c.(208-210)CAGfs	p.Q70fs	FIZ1_uc002qli.3_5'Flank|FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---
ZNF749	388567	broad.mit.edu	37	19	57950353	57950353	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57950353delG	uc002qoq.2	+						ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855			zinc finger protein 749						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)														---	---	---	---
ZNF587	84914	broad.mit.edu	37	19	58367778	58367778	+	Intron	DEL	T	-	-	rs113480202		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58367778delT	uc002qql.2	+						ZNF587_uc002qqb.2_Intron|ZNF587_uc010yhh.1_Intron|ZNF587_uc002qqi.1_Intron|ZNF587_uc002qqj.1_Intron|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Intron	NM_032828	NP_116217			zinc finger protein 587						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0264)														---	---	---	---
ANGPT4	51378	broad.mit.edu	37	20	853434	853435	+	3'UTR	INS	-	G	G	rs1888087		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:853434_853435insG	uc002wei.2	-	9					ANGPT4_uc010zpn.1_3'UTR	NM_015985	NP_057069			angiopoietin 4 precursor						anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2																		---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2638355	2638355	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2638355delT	uc002wgh.2	+						NOP56_uc010zpy.1_Intron|NOP56_uc002wgi.2_Intron|NOP56_uc002wgm.1_3'UTR	NM_006392	NP_006383			nucleolar protein 5A						rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	20	5272907	5272907	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5272907delA								CDS2 (100920 upstream) : PROKR2 (9780 downstream)																																			---	---	---	---
CST5	1473	broad.mit.edu	37	20	23859889	23859889	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23859889delG	uc002wtr.1	-							NM_001900	NP_001891			cystatin D precursor							extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	20	29930733	29930733	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:29930733delT								DEFB116 (34345 upstream) : DEFB118 (25695 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	20	34341658	34341659	+	IGR	DEL	AA	-	-	rs79208525		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34341658_34341659delAA								RBM39 (11465 upstream) : PHF20 (18264 downstream)																																			---	---	---	---
DSN1	79980	broad.mit.edu	37	20	35384385	35384386	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35384385_35384386insT	uc010gfr.2	-						DSN1_uc002xfz.2_Intron|DSN1_uc002xfy.3_Intron|DSN1_uc002xga.2_Intron|DSN1_uc010zvs.1_Intron|DSN1_uc002xgc.2_Intron|DSN1_uc002xgb.2_Intron	NM_001145316	NP_001138788			DSN1, MIND kinetochore complex component,						cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			ovary(2)	2		Myeloproliferative disorder(115;0.00874)																---	---	---	---
SAMHD1	25939	broad.mit.edu	37	20	35526446	35526446	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35526446delT	uc002xgh.1	-						SAMHD1_uc010gft.1_Intron	NM_015474	NP_056289			SAM domain- and HD domain-containing protein 1						defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41306344	41306344	+	Intron	DEL	C	-	-	rs2425514	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:41306344delC	uc002xkg.2	-						PTPRT_uc010ggj.2_Intron	NM_007050	NP_008981			protein tyrosine phosphatase, receptor type, T						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)																---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50286409	50286409	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50286409delA	uc002xwg.1	-						ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036			ATPase, class II, type 9A						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			ovary(4)	4																		---	---	---	---
SPO11	23626	broad.mit.edu	37	20	55906733	55906733	+	Intron	DEL	T	-	-	rs67108426		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:55906733delT	uc002xye.2	+						SPO11_uc002xyf.2_Intron	NM_012444	NP_036576			meiotic recombination protein SPO11 isoform a						female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)										Editing_and_processing_nucleases					---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58578026	58578026	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58578026delA	uc002ybe.2	+						CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.1_Intron|CDH26_uc002ybg.2_Intron|CDH26_uc002ybh.2_Intron|CDH26_uc002ybi.2_Intron	NM_177980	NP_817089			cadherin-like 26 isoform a						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)															---	---	---	---
C20orf151	140893	broad.mit.edu	37	20	60991168	60991168	+	Intron	DEL	G	-	-	rs150469970	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60991168delG	uc002ycw.1	-							NM_080833	NP_543023			hypothetical protein LOC140893												0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)															---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62074331	62074333	+	Intron	DEL	CAC	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62074331_62074333delCAC	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)													---	---	---	---
Unknown	0	broad.mit.edu	37	21	21112272	21112272	+	IGR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:21112272delA								None (None upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	21	21112407	21112408	+	IGR	DEL	GA	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:21112407_21112408delGA								None (None upstream) : None (None downstream)																																			---	---	---	---
SFRS15	57466	broad.mit.edu	37	21	33104102	33104102	+	5'UTR	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33104102delG	uc002ypd.2	-	1					SFRS15_uc002ype.2_5'UTR|SFRS15_uc010glu.2_5'UTR|SFRS15_uc002ypg.2_5'UTR	NM_020706	NP_065757			splicing factor, arginine/serine-rich 15 isoform							nucleus	nucleotide binding|RNA binding				0																		---	---	---	---
LCA5L	150082	broad.mit.edu	37	21	40782015	40782015	+	Frame_Shift_Del	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40782015delT	uc002yxu.2	-	9	1485	c.1172delA	c.(1171-1173)AAGfs	p.K391fs	LCA5L_uc002yxv.2_Frame_Shift_Del_p.K391fs	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	391											0		Prostate(19;1.2e-06)																---	---	---	---
CBS	875	broad.mit.edu	37	21	44474240	44474240	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44474240delT	uc002zcu.2	-						CBS_uc002zcs.1_Intron|CBS_uc002zct.2_Intron|CBS_uc002zcw.3_Intron|CBS_uc002zcv.2_Intron	NM_000071	NP_000062			cystathionine-beta-synthase						cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)													---	---	---	---
PWP2	5822	broad.mit.edu	37	21	45541096	45541096	+	Intron	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45541096delG	uc002zeb.2	+							NM_005049	NP_005040			PWP2 periodic tryptophan protein homolog							cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)														---	---	---	---
ADARB1	104	broad.mit.edu	37	21	46603572	46603573	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46603572_46603573insT	uc002zgy.2	+						ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgs.2_Intron|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Intron|ADARB1_uc002zgt.2_Intron|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_Intron|ADARB1_uc002zgu.2_Intron	NM_015833	NP_056648			RNA-specific adenosine deaminase B1 isoform 2						adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)														---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21097228	21097228	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21097228delT	uc002zsz.3	-							NM_058004	NP_477352			phosphatidylinositol 4-kinase type 3 alpha						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)															---	---	---	---
BCR	613	broad.mit.edu	37	22	23523816	23523816	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23523816delG	uc002zww.2	+	1	1265	c.669delG	c.(667-669)GTGfs	p.V223fs	BCR_uc002zwx.2_Frame_Shift_Del_p.V223fs	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	223	Kinase.|Binding to ABL SH2-domain.				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								---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26736200	26736200	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26736200delA	uc003acb.2	+						SEZ6L_uc003acc.2_Intron|SEZ6L_uc011akc.1_Intron|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Intron|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Intron|SEZ6L_uc010gvc.1_Intron	NM_021115	NP_066938			seizure related 6 homolog (mouse)-like							endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
HORMAD2	150280	broad.mit.edu	37	22	30517605	30517605	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30517605delT	uc003agy.2	+							NM_152510	NP_689723			HORMA domain containing 2						meiosis|mitosis	chromosome|nucleus					0			Epithelial(10;0.125)															---	---	---	---
C22orf42	150297	broad.mit.edu	37	22	32546186	32546186	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32546186delA	uc003amd.2	-							NM_001010859	NP_001010859			chromosome 22 open reading frame 42											ovary(1)|skin(1)	2																		---	---	---	---
TOM1	10043	broad.mit.edu	37	22	35726117	35726117	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35726117delA	uc003ann.2	+						TOM1_uc011ami.1_Intron|TOM1_uc011amj.1_Intron|TOM1_uc003ans.2_Intron|TOM1_uc011amk.1_Intron|TOM1_uc003anp.2_Intron|TOM1_uc011aml.1_Intron|TOM1_uc003ano.2_Intron|TOM1_uc003anq.2_Intron|TOM1_uc003anr.2_Intron	NM_005488	NP_005479			target of myb1 isoform 1						endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1																		---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36712840	36712840	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36712840delA	uc003apg.2	-						MYH9_uc003aph.1_Intron	NM_002473	NP_002464			myosin, heavy polypeptide 9, non-muscle						actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---
SOX10	6663	broad.mit.edu	37	22	38370364	38370365	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38370364_38370365insT	uc003aun.1	-						POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Intron	NM_006941	NP_008872			SRY (sex determining region Y)-box 10							cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)																	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40708460	40708460	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40708460delT	uc011aor.1	+						TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Intron|TNRC6B_uc003ayo.2_Intron	NM_001162501	NP_001155973			trinucleotide repeat containing 6B isoform 1						gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
ATXN10	25814	broad.mit.edu	37	22	46085554	46085554	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46085554delT	uc003bgm.1	+						ATXN10_uc011aqt.1_Intron|ATXN10_uc003bgn.1_Intron	NM_013236	NP_037368			ataxin 10						cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)														---	---	---	---
CD99	4267	broad.mit.edu	37	X	2658621	2658621	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2658621delT	uc004cqm.2	+						CD99_uc010nda.2_Intron|CD99_uc004cqn.2_Intron|CD99_uc004cqo.2_Intron	NM_002414	NP_002405			CD99 antigen isoform a precursor						cell adhesion	cytoplasm|integral to plasma membrane				skin(1)	1																		---	---	---	---
MSL3	10943	broad.mit.edu	37	X	11790306	11790307	+	Frame_Shift_Ins	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:11790306_11790307insC	uc004cuw.2	+	11	1418_1419	c.1313_1314insC	c.(1312-1314)TACfs	p.Y438fs	MSL3_uc004cux.2_Frame_Shift_Ins_p.Y379fs|MSL3_uc011mig.1_Frame_Shift_Ins_p.Y289fs|MSL3_uc011mih.1_Frame_Shift_Ins_p.Y426fs|MSL3_uc004cuy.2_Frame_Shift_Ins_p.Y272fs	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	438					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12627741	12627742	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12627741_12627742insA	uc004cuz.1	+						FRMPD4_uc011mij.1_Intron	NM_014728	NP_055543			FERM and PDZ domain containing 4						positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
ASB11	140456	broad.mit.edu	37	X	15333660	15333660	+	Frame_Shift_Del	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15333660delA	uc004cwp.1	-	1	68	c.68delT	c.(67-69)TTCfs	p.F23fs	ASB11_uc004cwo.1_5'Flank|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Frame_Shift_Del_p.F23fs	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	23					intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
FIGF	2277	broad.mit.edu	37	X	15364159	15364159	+	3'UTR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15364159delT	uc004cwt.1	-	7						NM_004469	NP_004460			vascular endothelial growth factor D						angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)																	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18800472	18800473	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18800472_18800473insT	uc004cyq.2	+						PPEF1_uc004cyp.2_Intron|PPEF1_uc004cyr.2_Intron|PPEF1_uc004cys.2_Intron|PPEF1_uc011mja.1_Intron|PPEF1_uc011mjb.1_Intron	NM_006240	NP_006231			protein phosphatase with EF hand calcium-binding						detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity				0	Hepatocellular(33;0.183)																	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32366648	32366648	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32366648delA	uc004dda.1	-						DMD_uc004dcw.2_Intron|DMD_uc004dcx.2_Intron|DMD_uc004dcz.2_Intron|DMD_uc004dcy.1_Intron|DMD_uc004ddb.1_Intron|DMD_uc010ngo.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)																---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41056585	41056585	+	Intron	DEL	C	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41056585delC	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																		---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47034511	47034512	+	Intron	INS	-	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47034511_47034512insC	uc004dhf.2	+						RBM10_uc004dhe.1_Intron|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_Intron|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_Intron	NM_005676	NP_005667			RNA binding motif protein 10 isoform 1						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																		---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62898464	62898465	+	Intron	INS	-	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:62898464_62898465insA	uc004dvl.2	-						ARHGEF9_uc004dvj.1_Intron|ARHGEF9_uc004dvk.1_Intron|ARHGEF9_uc011mos.1_Intron|ARHGEF9_uc004dvm.1_Intron|ARHGEF9_uc011mot.1_Intron|ARHGEF9_uc004dvn.2_Intron	NM_015185	NP_056000			Cdc42 guanine exchange factor 9						apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	64548402	64548402	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64548402delT								ZC4H2 (293809 upstream) : ZC3H12B (160304 downstream)																																			---	---	---	---
IGBP1	3476	broad.mit.edu	37	X	69369997	69369998	+	Intron	INS	-	TT	TT			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69369997_69369998insTT	uc004dxv.2	+						IGBP1_uc004dxw.2_Intron	NM_001551	NP_001542			immunoglobulin binding protein 1						B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2																		---	---	---	---
BCYRN1	618	broad.mit.edu	37	X	70534861	70534861	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70534861delT	uc011mpt.1	-							NR_001568				Homo sapiens brain cytoplasmic RNA 1 (non-protein coding) (BCYRN1), non-coding RNA.												0																		---	---	---	---
BCYRN1	618	broad.mit.edu	37	X	70535193	70535194	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70535193_70535194insT	uc011mpt.1	-							NR_001568				Homo sapiens brain cytoplasmic RNA 1 (non-protein coding) (BCYRN1), non-coding RNA.												0																		---	---	---	---
ATRX	546	broad.mit.edu	37	X	76763680	76763680	+	3'UTR	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76763680delA	uc004ecp.3	-	35					ATRX_uc004ecq.3_3'UTR|ATRX_uc004eco.3_3'UTR	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						---	---	---	---
FAM46D	169966	broad.mit.edu	37	X	79698294	79698295	+	Frame_Shift_Ins	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79698294_79698295insT	uc004edl.1	+	5	590_591	c.256_257insT	c.(256-258)ATTfs	p.I86fs	FAM46D_uc004edm.1_Frame_Shift_Ins_p.I86fs	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	86										lung(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	83996004	83996004	+	IGR	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83996004delT								HDX (238546 upstream) : UBE2DNL (193153 downstream)																																			---	---	---	---
CHM	1121	broad.mit.edu	37	X	85134074	85134074	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:85134074delA	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)																---	---	---	---
DACH2	117154	broad.mit.edu	37	X	86087097	86087097	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:86087097delT	uc004eew.2	+						DACH2_uc004eex.2_Intron|DACH2_uc010nmq.2_Intron|DACH2_uc011mra.1_Intron|DACH2_uc010nmr.2_Intron	NM_053281	NP_444511			dachshund 2 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5																		---	---	---	---
ATG4A	115201	broad.mit.edu	37	X	107377269	107377269	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107377269delT	uc004enr.2	+						ATG4A_uc004ent.2_Intron|ATG4A_uc004ens.2_Intron|ATG4A_uc011msl.1_Intron|ATG4A_uc010npi.2_Intron|ATG4A_uc004enu.2_Intron	NM_052936	NP_443168			autophagy-related cysteine endopeptidase 2						autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1																		---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107783100	107783100	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107783100delT	uc004enz.1	+						COL4A5_uc011mso.1_Intron	NM_033380	NP_203699			type IV collagen alpha 5 isoform 2 precursor						axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---
MBNL3	55796	broad.mit.edu	37	X	131513715	131513715	+	Intron	DEL	A	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:131513715delA	uc004ewv.3	-						uc004ewr.1_Intron|MBNL3_uc004eww.2_Intron|MBNL3_uc004ews.2_Intron|MBNL3_uc004ewt.2_Intron|MBNL3_uc011muz.1_Intron|MBNL3_uc004ewu.3_Intron	NM_018388	NP_060858			muscleblind-like 3 isoform G						mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134683426	134683426	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134683426delT	uc004eyw.3	+							NM_182540	NP_872346			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide												0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150770185	150770186	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150770185_150770186insT	uc004fev.3	+							NM_173493	NP_775764			PAS domain containing 1							nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PNMA3	29944	broad.mit.edu	37	X	152225667	152225667	+	Frame_Shift_Del	DEL	G	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152225667delG	uc004fhc.2	+	2	591	c.255delG	c.(253-255)AAGfs	p.K85fs	PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	paraneoplastic cancer-testis-brain antigen	85					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			skin(2)|large_intestine(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
SSR4	6748	broad.mit.edu	37	X	153063774	153063774	+	Intron	DEL	T	-	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153063774delT	uc004fiw.2	+						SSR4_uc004fiv.2_Intron	NM_006280	NP_006271			signal sequence receptor, delta precursor						intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
RPS4Y1	6192	broad.mit.edu	37	Y	2710318	2710319	+	Intron	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:2710318_2710319insT	uc004fqi.2	+							NM_001008	NP_000999			ribosomal protein S4, Y-linked 1 Y isoform						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	Y	14495136	14495137	+	IGR	INS	-	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:14495136_14495137insT								None (None upstream) : TTTY15 (279161 downstream)																																			---	---	---	---
AGRN	375790	broad.mit.edu	37	1	989314	989314	+	Missense_Mutation	SNP	G	A	A	rs145079121		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:989314G>A	uc001ack.1	+	34	5883	c.5833G>A	c.(5833-5835)GTG>ATG	p.V1945M		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1945	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10166514	10166514	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10166514G>A	uc001aqs.3	+	7	1782	c.1069G>A	c.(1069-1071)GCC>ACC	p.A357T	UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	357					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)														---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10399850	10399850	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10399850C>A	uc001aqx.3	+	32	3648	c.3446C>A	c.(3445-3447)GCA>GAA	p.A1149E	KIF1B_uc001aqw.3_Missense_Mutation_p.A1103E|KIF1B_uc001aqy.2_Missense_Mutation_p.A1123E|KIF1B_uc001aqz.2_Missense_Mutation_p.A1149E|KIF1B_uc001ara.2_Missense_Mutation_p.A1109E|KIF1B_uc001arb.2_Missense_Mutation_p.A1135E	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1149					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)														---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10715779	10715779	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10715779G>A	uc001aro.2	-	9	1912	c.1592C>T	c.(1591-1593)CCG>CTG	p.P531L	CASZ1_uc001arp.1_Missense_Mutation_p.P531L|CASZ1_uc009vmx.2_Missense_Mutation_p.P555L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)														---	---	---	---
MASP2	10747	broad.mit.edu	37	1	11105485	11105485	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11105485C>T	uc001aru.2	-	4	545	c.524G>A	c.(523-525)CGT>CAT	p.R175H	MASP2_uc001arv.2_Missense_Mutation_p.R175H|MASP2_uc001arw.2_3'UTR|MASP2_uc001arx.1_Missense_Mutation_p.R175H	NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	175	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-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;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)														---	---	---	---
FBXO6	26270	broad.mit.edu	37	1	11728803	11728803	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11728803G>T	uc001aso.2	+	2	254	c.88G>T	c.(88-90)GCC>TCC	p.A30S		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	F-box only protein 6	30	F-box.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			lung(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12010421	12010421	+	Missense_Mutation	SNP	G	A	A	rs141809154		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12010421G>A	uc001atm.2	+	4	401	c.310G>A	c.(310-312)GTG>ATG	p.V104M	PLOD1_uc010obb.1_Missense_Mutation_p.V151M	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	104					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	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 homodimerization activity			ovary(2)|breast(1)	3	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;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
TMEM51	55092	broad.mit.edu	37	1	15541698	15541698	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15541698G>A	uc001avw.3	+	3	634	c.115G>A	c.(115-117)GCG>ACG	p.A39T	TMEM51_uc010obk.1_Missense_Mutation_p.A39T|TMEM51_uc001avz.2_Missense_Mutation_p.A39T|TMEM51_uc001avy.2_Missense_Mutation_p.A39T|TMEM51_uc001avx.2_Missense_Mutation_p.A39T	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	39						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)														---	---	---	---
DNAJC16	23341	broad.mit.edu	37	1	15894398	15894398	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15894398G>A	uc001aws.2	+	15	2195	c.2075G>A	c.(2074-2076)CGT>CAT	p.R692H	DNAJC16_uc001awt.2_Missense_Mutation_p.R380H|DNAJC16_uc001awu.2_RNA	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	692	Extracellular (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)														---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17295652	17295652	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17295652C>T	uc001azt.2	+	32	5187	c.5118C>T	c.(5116-5118)ACC>ACT	p.T1706T	CROCC_uc001azu.2_Silent_p.T1009T|CROCC_uc001azv.2_Silent_p.T42T	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1706					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19513722	19513722	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19513722C>T	uc001bbi.2	-	13	1572	c.1568G>A	c.(1567-1569)CGG>CAG	p.R523Q		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	523					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21952790	21952790	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21952790C>T	uc001bex.2	-						RAP1GAP_uc001bew.2_Intron|RAP1GAP_uc001bey.2_Intron	NM_002885	NP_002876			RAP1 GTPase activating protein isoform c						regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)														---	---	---	---
KDM1A	23028	broad.mit.edu	37	1	23405511	23405511	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23405511C>T	uc001bgi.2	+	15	1973	c.1824C>T	c.(1822-1824)CGC>CGT	p.R608R	KDM1A_uc001bgj.2_Silent_p.R632R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	608	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2																		---	---	---	---
LDLRAP1	26119	broad.mit.edu	37	1	25889555	25889555	+	Intron	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:25889555C>A	uc001bkl.3	+						LDLRAP1_uc009vrw.2_Intron|LDLRAP1_uc009vrx.2_Missense_Mutation_p.P6H	NM_015627	NP_056442			low density lipoprotein receptor adaptor protein						amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			ovary(1)	1		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;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
WDTC1	23038	broad.mit.edu	37	1	27618840	27618840	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27618840G>A	uc009vst.2	+	7	1149	c.614G>A	c.(613-615)AGC>AAC	p.S205N	WDTC1_uc001bno.2_Missense_Mutation_p.S205N|WDTC1_uc001bnp.1_RNA	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	205	WD 4.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)														---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27875931	27875931	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27875931G>A	uc009vsy.2	-	6	3665	c.2696C>T	c.(2695-2697)GCA>GTA	p.A899V	AHDC1_uc009vsz.1_Missense_Mutation_p.A899V	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	899							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)														---	---	---	---
COL16A1	1307	broad.mit.edu	37	1	32149702	32149702	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32149702C>T	uc001btk.1	-						COL16A1_uc001btj.1_Intron|COL16A1_uc001btl.3_Intron	NM_001856	NP_001847			alpha 1 type XVI collagen precursor						cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)														---	---	---	---
TRIM62	55223	broad.mit.edu	37	1	33623903	33623903	+	Silent	SNP	G	A	A	rs115222802	byFrequency;by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33623903G>A	uc001bxb.2	-	4	1466	c.828C>T	c.(826-828)GGC>GGT	p.G276G		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	276						intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)																---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34677853	34677853	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34677853C>T	uc001bxs.3	+	6	1396	c.997C>T	c.(997-999)CGC>TGC	p.R333C	C1orf94_uc001bxt.2_Missense_Mutation_p.R523C	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	333							protein binding				0		Myeloproliferative disorder(586;0.0393)																---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35865188	35865188	+	Intron	SNP	G	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35865188G>C	uc001byt.2	+						ZMYM4_uc009vuu.2_Intron|ZMYM4_uc001byu.2_Intron|ZMYM4_uc009vuv.2_Intron	NM_005095	NP_005086			zinc finger protein 262						multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36752298	36752298	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36752298G>A	uc001cae.3	+	4	691	c.467G>A	c.(466-468)CGC>CAC	p.R156H	THRAP3_uc001caf.3_Missense_Mutation_p.R156H|THRAP3_uc001cag.1_Missense_Mutation_p.R156H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	156	Arg-rich.|Ser-rich.				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								---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37316021	37316021	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:37316021C>A	uc001caz.2	-	9	1352	c.1217G>T	c.(1216-1218)GGG>GTG	p.G406V	GRIK3_uc001cba.1_Missense_Mutation_p.G406V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	406	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)													---	---	---	---
GUCA2A	2980	broad.mit.edu	37	1	42629124	42629124	+	Missense_Mutation	SNP	A	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42629124A>T	uc001chd.1	-	2	245	c.233T>A	c.(232-234)CTC>CAC	p.L78H		NM_033553	NP_291031	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A precursor	78					signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			pancreas(1)	1	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43215937	43215937	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43215937C>T	uc001chv.2	-	11	1753	c.1640G>A	c.(1639-1641)CGC>CAC	p.R547H	LEPRE1_uc001chw.2_Missense_Mutation_p.R547H|LEPRE1_uc001chx.3_Missense_Mutation_p.R547H	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	547					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	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-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
ERMAP	114625	broad.mit.edu	37	1	43305712	43305712	+	Missense_Mutation	SNP	C	T	T	rs141803620		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43305712C>T	uc001cic.1	+	9	916	c.646C>T	c.(646-648)CGG>TGG	p.R216W	ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.R216W|ERMAP_uc001cif.1_Missense_Mutation_p.R126W	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	216	Cytoplasmic (Potential).		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
ERMAP	114625	broad.mit.edu	37	1	43308910	43308910	+	3'UTR	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43308910G>A	uc001cic.1	+	12					ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_3'UTR|ERMAP_uc001cif.1_3'UTR	NM_001017922	NP_001017922			erythroblast membrane-associated protein							integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
SLC2A1	6513	broad.mit.edu	37	1	43394615	43394615	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43394615C>T	uc001cik.2	-	8	1587	c.1062G>A	c.(1060-1062)GCG>GCA	p.A354A		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	354	Helical; Name=9; (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)													---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44415613	44415613	+	Silent	SNP	G	A	A	rs150416503	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44415613G>A	uc001ckx.2	+	2	1404	c.609G>A	c.(607-609)CCG>CCA	p.P203P		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	203	HEAT 2.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)																---	---	---	---
SLC6A9	6536	broad.mit.edu	37	1	44463704	44463704	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44463704G>A	uc001cll.2	-						SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Intron|SLC6A9_uc009vxd.2_Intron|SLC6A9_uc010okn.1_Intron|SLC6A9_uc001cln.2_Intron|SLC6A9_uc010oko.1_Intron	NM_201649	NP_964012			solute carrier family 6 member 9 isoform 2							integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)													---	---	---	---
RNF220	55182	broad.mit.edu	37	1	45116433	45116433	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45116433A>G	uc001clv.1	+	15	2047	c.1687A>G	c.(1687-1689)AGG>GGG	p.R563G	RNF220_uc001clw.1_Missense_Mutation_p.R563G|RNF220_uc010oky.1_Missense_Mutation_p.R350G|RNF220_uc010okz.1_3'UTR|RNF220_uc001clx.1_Missense_Mutation_p.R279G|RNF220_uc001cly.1_Missense_Mutation_p.R243G|RNF220_uc001clz.1_Missense_Mutation_p.R242G|RNF220_uc001cma.1_3'UTR|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	563					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45292921	45292921	+	Missense_Mutation	SNP	C	T	T	rs112613379	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45292921C>T	uc010olf.1	-	16	2444	c.2432G>A	c.(2431-2433)CGC>CAC	p.R811H	PTCH2_uc010olg.1_Missense_Mutation_p.R509H	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	811	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)													Basal_Cell_Nevus_syndrome				---	---	---	---
CYP4A11	1579	broad.mit.edu	37	1	47402372	47402372	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47402372A>G	uc001cqp.3	-	4	525	c.474T>C	c.(472-474)TAT>TAC	p.Y158Y	CYP4A11_uc001cqq.2_Silent_p.Y158Y|CYP4A11_uc010omm.1_RNA	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	158					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)													---	---	---	---
CYP4A11	1579	broad.mit.edu	37	1	47402375	47402375	+	Silent	SNP	G	T	T	rs150891285	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47402375G>T	uc001cqp.3	-	4	522	c.471C>A	c.(469-471)CCC>CCA	p.P157P	CYP4A11_uc001cqq.2_Silent_p.P157P|CYP4A11_uc010omm.1_RNA	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	157					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)													---	---	---	---
STIL	6491	broad.mit.edu	37	1	47717280	47717280	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47717280C>T	uc001crc.1	-	17	3547	c.3392G>A	c.(3391-3393)AGC>AAC	p.S1131N	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1085N|STIL_uc010omo.1_Missense_Mutation_p.S1114N|STIL_uc001crd.1_Missense_Mutation_p.S1132N|STIL_uc001cre.1_Missense_Mutation_p.S1131N	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1131					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53720817	53720817	+	Silent	SNP	G	A	A	rs146836225		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53720817G>A	uc001cvi.1	-	16	2617	c.2475C>T	c.(2473-2475)GCC>GCT	p.A825A	LRP8_uc001cvh.1_Silent_p.A378A|LRP8_uc001cvk.1_Silent_p.A655A|LRP8_uc001cvj.1_Silent_p.A825A|LRP8_uc001cvl.1_Silent_p.A621A|LRP8_uc001cvm.1_Silent_p.A410A	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	825	Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0																		---	---	---	---
C1orf175	374977	broad.mit.edu	37	1	55119766	55119766	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55119766G>A	uc010ooe.1	+	3	1491	c.1167G>A	c.(1165-1167)CCG>CCA	p.P389P	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.P389P|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.P389P|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	389						integral to membrane	binding				0																		---	---	---	---
C1orf175	374977	broad.mit.edu	37	1	55139382	55139382	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55139382G>A	uc010ooe.1	+	9	2028	c.1704G>A	c.(1702-1704)GGG>GGA	p.G568G	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.G136G|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.G86G|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.G568G|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	568						integral to membrane	binding				0																		---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63008278	63008278	+	Splice_Site	SNP	C	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63008278C>G	uc001daq.2	-	25	3079	c.3045_splice	c.e25+1	p.M1015_splice	DOCK7_uc001dan.2_Splice_Site_p.M876_splice|DOCK7_uc001dao.2_Splice_Site_p.M876_splice|DOCK7_uc001dap.2_Splice_Site_p.M984_splice|DOCK7_uc001dam.2_Splice_Site_p.M195_splice	NM_033407	NP_212132			dedicator of cytokinesis 7						activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2																		---	---	---	---
ROR1	4919	broad.mit.edu	37	1	64515507	64515507	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:64515507G>A	uc001dbj.2	+	3	707	c.308G>A	c.(307-309)CGG>CAG	p.R103Q	ROR1_uc001dbi.3_Missense_Mutation_p.R103Q	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	103	Ig-like C2-type.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19																		---	---	---	---
DEPDC1	55635	broad.mit.edu	37	1	68944833	68944833	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:68944833C>T	uc001dem.3	-	10	2223	c.2106G>A	c.(2104-2106)AAG>AAA	p.K702K	DEPDC1_uc001dej.3_Silent_p.K70K|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Silent_p.K418K	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	702					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)														---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70504369	70504369	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70504369G>A	uc001dep.2	+	19	2778	c.2748G>A	c.(2746-2748)CCG>CCA	p.P916P	LRRC7_uc009wbg.2_Silent_p.P200P|LRRC7_uc001deq.2_Silent_p.P157P	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	916						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
HHLA3	11147	broad.mit.edu	37	1	70820864	70820864	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70820864C>T	uc001dfa.2	+	1	372	c.230C>T	c.(229-231)GCC>GTC	p.A77V	ANKRD13C_uc001dex.3_5'Flank|ANKRD13C_uc009wbk.2_5'Flank|ANKRD13C_uc001dey.3_5'Flank|HHLA3_uc010oqp.1_Intron|HHLA3_uc001dfb.2_Intron|HHLA3_uc001dfc.2_Intron	NM_001036645	NP_001031722	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3 isoform 2	77							protein binding				0																		---	---	---	---
PTGER3	5733	broad.mit.edu	37	1	71513128	71513128	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:71513128C>T	uc001dfg.1	-	1	364	c.133G>A	c.(133-135)GAG>AAG	p.E45K	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.E45K|PTGER3_uc001dfl.1_Missense_Mutation_p.E45K|PTGER3_uc009wbm.1_Missense_Mutation_p.E45K|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.E45K|PTGER3_uc009wbn.1_Missense_Mutation_p.E45K|PTGER3_uc009wbo.2_Missense_Mutation_p.E45K|PTGER3_uc001dfo.2_Missense_Mutation_p.E45K|PTGER3_uc001dfp.1_Missense_Mutation_p.E45K|PTGER3_uc001dfq.2_Missense_Mutation_p.E45K|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	45	Extracellular (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)													---	---	---	---
C1orf173	127254	broad.mit.edu	37	1	75038995	75038995	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75038995T>C	uc001dgg.2	-	14	2618	c.2399A>G	c.(2398-2400)GAA>GGA	p.E800G		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	800	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86554903	86554903	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86554903T>C	uc001dlj.2	-	7	1703	c.1661A>G	c.(1660-1662)CAA>CGA	p.Q554R	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Q554R	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	554	Collagen-like 2.				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)														---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89618340	89618340	+	Intron	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89618340T>C	uc001dna.2	-						GBP2_uc001dmy.1_5'Flank	NM_207398	NP_997281			guanylate binding protein 4-like							integral to membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)														---	---	---	---
VCAM1	7412	broad.mit.edu	37	1	101203814	101203814	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101203814T>C	uc001dti.2	+	9	2315	c.2195T>C	c.(2194-2196)GTA>GCA	p.V732A	VCAM1_uc001dtj.2_Missense_Mutation_p.V640A|VCAM1_uc010ouj.1_Missense_Mutation_p.V670A	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	732	Cytoplasmic (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)													---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109810548	109810548	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109810548G>A	uc001dxa.3	+	17	6245	c.6184G>A	c.(6184-6186)GCC>ACC	p.A2062T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2062	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)														---	---	---	---
AMPD2	271	broad.mit.edu	37	1	110171328	110171328	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110171328G>A	uc009wfh.1	+	13	2175	c.1633G>A	c.(1633-1635)GGG>AGG	p.G545R	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.G464R|AMPD2_uc001dyc.1_Missense_Mutation_p.G545R|AMPD2_uc010ovr.1_Missense_Mutation_p.G470R|AMPD2_uc001dyd.1_Missense_Mutation_p.G426R|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	545					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)														---	---	---	---
SLC6A17	388662	broad.mit.edu	37	1	110734624	110734624	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110734624C>T	uc009wfq.2	+	7	1356	c.895C>T	c.(895-897)CGG>TGG	p.R299W	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	299	Extracellular (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)														---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116932304	116932304	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:116932304C>T	uc001ege.2	+	8	1337	c.998C>T	c.(997-999)CCG>CTG	p.P333L	ATP1A1_uc010owv.1_Missense_Mutation_p.P302L|ATP1A1_uc010oww.1_Missense_Mutation_p.P333L|ATP1A1_uc010owx.1_Missense_Mutation_p.P302L	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	333	Helical; (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)													---	---	---	---
CD101	9398	broad.mit.edu	37	1	117560078	117560078	+	Missense_Mutation	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117560078T>A	uc010oxb.1	+	5	1653	c.1595T>A	c.(1594-1596)GTT>GAT	p.V532D	CD101_uc009whd.2_Missense_Mutation_p.V532D|CD101_uc010oxc.1_Missense_Mutation_p.V532D|CD101_uc010oxd.1_Missense_Mutation_p.V470D	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	532	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
TRIM45	80263	broad.mit.edu	37	1	117656107	117656107	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117656107C>A	uc001egz.2	-	5	2056	c.1468G>T	c.(1468-1470)GGC>TGC	p.G490C	TRIM45_uc009whe.2_Missense_Mutation_p.G472C|TRIM45_uc001eha.2_Missense_Mutation_p.G386C	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	490	Filamin.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)														---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120484286	120484286	+	Silent	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120484286T>G	uc001eik.2	-	18	3100	c.2844A>C	c.(2842-2844)ACA>ACC	p.T948T	NOTCH2_uc001eil.2_Silent_p.T948T	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	948	Extracellular (Potential).				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				---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145531031	145531031	+	Intron	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145531031G>T	uc001eoa.2	+						NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Intron|ITGA10_uc009wiw.2_Intron|ITGA10_uc010oyw.1_Intron	NM_003637	NP_003628			integrin, alpha 10 precursor						cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---
BOLA1	51027	broad.mit.edu	37	1	149872030	149872030	+	3'UTR	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149872030C>T	uc001etf.2	+	2						NM_016074	NP_057158			bolA-like 1							extracellular region	protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)															---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149903217	149903217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149903217G>A	uc001etl.3	-	13	1476	c.1225C>T	c.(1225-1227)CGA>TGA	p.R409*	SF3B4_uc001etk.1_5'Flank|MTMR11_uc001etm.1_Nonsense_Mutation_p.R337*|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Missense_Mutation_p.A235V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	409	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151378237	151378237	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151378237T>C	uc001eyd.1	-	19	3580	c.3274A>G	c.(3274-3276)ACC>GCC	p.T1092A	POGZ_uc001eye.1_Missense_Mutation_p.T1039A|POGZ_uc010pdb.1_Missense_Mutation_p.T1083A|POGZ_uc001eyf.1_Missense_Mutation_p.T1048A|POGZ_uc010pdc.1_Missense_Mutation_p.T1030A|POGZ_uc009wmv.1_Missense_Mutation_p.T997A|POGZ_uc010pdd.1_Missense_Mutation_p.T583A	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1092				TLPKDVAENAGLFIDF -> PTLLFCLFVFSSPSTL (in Ref. 4; BAB87117/BAE45744).	cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)															---	---	---	---
LCE1C	353133	broad.mit.edu	37	1	152777634	152777634	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152777634G>A	uc001fap.1	-	2	372	c.321C>T	c.(319-321)GGC>GGT	p.G107G		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	107	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
UBE2Q1	55585	broad.mit.edu	37	1	154528328	154528328	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154528328C>T	uc001fff.1	-							NM_017582	NP_060052			ubiquitin-conjugating enzyme E2Q								ATP binding|protein binding|ubiquitin-protein ligase activity				0	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155151092	155151092	+	Intron	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155151092A>G	uc001fhs.1	+						RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_Intron|TRIM46_uc001fhq.2_Intron|TRIM46_uc001fhr.2_Intron|TRIM46_uc001fht.1_Intron|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Intron|TRIM46_uc009wpg.1_Intron|TRIM46_uc001fhv.3_Intron|TRIM46_uc001fhw.1_Intron	NM_025058	NP_079334			tripartite motif-containing 46							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)															---	---	---	---
RUSC1	23623	broad.mit.edu	37	1	155291851	155291851	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155291851C>T	uc001fkj.2	+	2	516	c.287C>T	c.(286-288)TCT>TTT	p.S96F	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S96F|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	96						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)															---	---	---	---
YY1AP1	55249	broad.mit.edu	37	1	155646486	155646486	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155646486C>A	uc001fln.2	-	5	399	c.375G>T	c.(373-375)AAG>AAT	p.K125N	YY1AP1_uc010pgg.1_Translation_Start_Site|YY1AP1_uc010pgh.1_Missense_Mutation_p.K48N|YY1AP1_uc010pgi.1_Missense_Mutation_p.K197N|YY1AP1_uc001flh.2_Missense_Mutation_p.K197N|YY1AP1_uc009wqt.2_Missense_Mutation_p.K48N|YY1AP1_uc001flk.2_Missense_Mutation_p.K48N|YY1AP1_uc001fll.2_Missense_Mutation_p.K59N|YY1AP1_uc009wqv.2_Translation_Start_Site|YY1AP1_uc001flm.2_Missense_Mutation_p.K48N|YY1AP1_uc001fli.2_Missense_Mutation_p.K59N|YY1AP1_uc009wqu.2_Translation_Start_Site|YY1AP1_uc001flj.2_Missense_Mutation_p.K59N|YY1AP1_uc009wqw.2_Missense_Mutation_p.K48N|YY1AP1_uc001flo.2_Translation_Start_Site|YY1AP1_uc001flp.2_Missense_Mutation_p.K59N|YY1AP1_uc010pgj.1_Missense_Mutation_p.K125N|YY1AP1_uc009wqx.2_Missense_Mutation_p.K197N|YY1AP1_uc010pgk.1_Missense_Mutation_p.K197N	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	125					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)																	---	---	---	---
RXFP4	339403	broad.mit.edu	37	1	155911816	155911816	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155911816C>A	uc010pgs.1	+	1	337	c.316C>A	c.(316-318)CAC>AAC	p.H106N		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	106	Extracellular (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)																	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157494244	157494244	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157494244T>C	uc001fqu.2	-	10	2222	c.2064A>G	c.(2062-2064)CCA>CCG	p.P688P	FCRL5_uc009wsm.2_Silent_p.P688P|FCRL5_uc010phv.1_Silent_p.P688P|FCRL5_uc010phw.1_Silent_p.P603P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	688	Extracellular (Potential).|Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---
OR6Y1	391112	broad.mit.edu	37	1	158517497	158517497	+	Missense_Mutation	SNP	A	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158517497A>T	uc010pil.1	-	1	399	c.399T>A	c.(397-399)AAT>AAA	p.N133K		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160146025	160146025	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160146025G>A	uc001fve.3	+	16	2934	c.2455G>A	c.(2455-2457)GGC>AGC	p.G819S	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.G322S|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	819	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161017809	161017809	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161017809A>G	uc001fxl.2	-	12	3348	c.3002T>C	c.(3001-3003)GTG>GCG	p.V1001A	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.V790A|ARHGAP30_uc001fxm.2_Missense_Mutation_p.V847A|ARHGAP30_uc009wtx.2_Missense_Mutation_p.V674A	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	1001					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)															---	---	---	---
C1orf192	257177	broad.mit.edu	37	1	161334773	161334773	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161334773T>C	uc001gal.2	-	5	522	c.516A>G	c.(514-516)CAA>CAG	p.Q172Q		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	hypothetical protein LOC257177	172											0	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
FCRLA	84824	broad.mit.edu	37	1	161681834	161681834	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161681834C>T	uc001gbe.2	+	5	921	c.679C>T	c.(679-681)CGC>TGC	p.R227C	FCRLA_uc001gbd.2_Missense_Mutation_p.R221C|FCRLA_uc001gbf.2_Missense_Mutation_p.R132C|FCRLA_uc001gbg.2_Missense_Mutation_p.R81C|FCRLA_uc009wuo.2_Missense_Mutation_p.R87C|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	204	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)															---	---	---	---
SELP	6403	broad.mit.edu	37	1	169581513	169581513	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169581513C>T	uc001ggi.3	-	6	968	c.903G>A	c.(901-903)CCG>CCA	p.P301P	SELP_uc001ggh.2_Silent_p.P136P|SELP_uc009wvr.2_Silent_p.P301P	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	301	Extracellular (Potential).|Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)													---	---	---	---
PRRX1	5396	broad.mit.edu	37	1	170688909	170688909	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:170688909G>A	uc001ghf.2	+	2	331	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	PRRX1_uc001ghe.2_Missense_Mutation_p.R95Q	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	95	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
C1orf9	51430	broad.mit.edu	37	1	172569271	172569271	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172569271C>T	uc001giq.3	+	20	3297	c.2981C>T	c.(2980-2982)TCA>TTA	p.S994L	C1orf9_uc010pmm.1_Missense_Mutation_p.S994L|C1orf9_uc009wwd.2_Missense_Mutation_p.S950L|C1orf9_uc010pmn.1_Missense_Mutation_p.S623L|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	994	Potential.				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)														---	---	---	---
KLHL20	27252	broad.mit.edu	37	1	173754293	173754293	+	Intron	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173754293C>A	uc001gjc.2	+						KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Intron	NM_014458	NP_055273			kelch-like 20						cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181732633	181732633	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181732633G>A	uc001gow.2	+	34	4946	c.4781G>A	c.(4780-4782)CGC>CAC	p.R1594H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1482H|CACNA1E_uc001gox.1_Missense_Mutation_p.R820H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R820H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1594	Cytoplasmic (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183534904	183534904	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183534904G>T	uc001gqj.3	-	10	1210	c.935C>A	c.(934-936)TCT>TAT	p.S312Y	NCF2_uc010pod.1_Missense_Mutation_p.S267Y|NCF2_uc010poe.1_Missense_Mutation_p.S231Y|NCF2_uc001gqk.3_Missense_Mutation_p.S312Y	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	312					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																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186092099	186092099	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186092099C>T	uc001grq.1	+	81	12475	c.12246C>T	c.(12244-12246)AGC>AGT	p.S4082S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4082	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186097347	186097347	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186097347G>T	uc001grq.1	+	83	13057	c.12828G>T	c.(12826-12828)CAG>CAT	p.Q4276H	HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4276	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
C1orf27	54953	broad.mit.edu	37	1	186368120	186368120	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186368120A>G	uc001grw.2	+	11	1180	c.944A>G	c.(943-945)GAT>GGT	p.D315G	C1orf27_uc010poq.1_Missense_Mutation_p.D292G|C1orf27_uc010por.1_Missense_Mutation_p.D283G|OCLM_uc001gry.2_5'Flank	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	315						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
NEK7	140609	broad.mit.edu	37	1	198231732	198231732	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198231732C>T	uc001gun.3	+	4	553	c.226C>T	c.(226-228)CGT>TGT	p.R76C		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	76	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4																		---	---	---	---
ELF3	1999	broad.mit.edu	37	1	201981273	201981273	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201981273G>T	uc001gxg.3	+	2	3544	c.352G>T	c.(352-354)GGG>TGG	p.G118W	ELF3_uc001gxi.3_Missense_Mutation_p.G118W|ELF3_uc001gxh.3_Missense_Mutation_p.G118W	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	118	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0																		---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203682345	203682345	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203682345G>A	uc001gzw.2	+	14	3148	c.2264G>A	c.(2263-2265)CGA>CAA	p.R755Q	ATP2B4_uc001gzv.2_Missense_Mutation_p.R755Q|ATP2B4_uc009xaq.2_Missense_Mutation_p.R755Q	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	755	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203821508C>G	uc001hac.2	+	20	3030	c.2414C>G	c.(2413-2415)TCA>TGA	p.S805*	ZC3H11A_uc001had.2_Nonsense_Mutation_p.S805*|ZC3H11A_uc001hae.2_Nonsense_Mutation_p.S805*|ZC3H11A_uc001haf.2_Nonsense_Mutation_p.S805*|ZC3H11A_uc010pqm.1_Nonsense_Mutation_p.S751*	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805							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)															---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206628370	206628370	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206628370A>G	uc001hdy.2	+	18	2579	c.2246A>G	c.(2245-2247)AAG>AGG	p.K749R	SRGAP2_uc001hdx.2_Missense_Mutation_p.K749R|SRGAP2_uc010pru.1_Missense_Mutation_p.K672R	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	836					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)																	---	---	---	---
FAIM3	9214	broad.mit.edu	37	1	207087092	207087092	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207087092G>A	uc001hey.2	-						FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Intron|FAIM3_uc010psb.1_Intron	NM_005449	NP_005440			Fas apoptotic inhibitory molecule 3 isoform a						anti-apoptosis|cellular defense response	integral to membrane				central_nervous_system(1)	1	Breast(84;0.201)																	---	---	---	---
PFKFB2	5208	broad.mit.edu	37	1	207238492	207238492	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207238492G>A	uc001hfg.2	+	8	728	c.619G>A	c.(619-621)GAC>AAC	p.D207N	PFKFB2_uc010psc.1_Missense_Mutation_p.D109N|PFKFB2_uc001hfh.2_Missense_Mutation_p.D207N|PFKFB2_uc009xcc.2_Missense_Mutation_p.D165N|PFKFB2_uc010psd.1_Missense_Mutation_p.D21N	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	207	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)																	---	---	---	---
C1orf115	79762	broad.mit.edu	37	1	220869960	220869960	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220869960G>A	uc001hmp.1	+	2	433	c.316G>A	c.(316-318)GGG>AGG	p.G106R		NM_024709	NP_078985	Q9H7X2	CA115_HUMAN	hypothetical protein LOC79762	106						integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0273)														---	---	---	---
NVL	4931	broad.mit.edu	37	1	224455820	224455820	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224455820G>A	uc001hok.2	-	18	2141	c.2098C>T	c.(2098-2100)CGA>TGA	p.R700*	NVL_uc001hol.2_Nonsense_Mutation_p.R594*|NVL_uc010pvd.1_Nonsense_Mutation_p.R609*|NVL_uc010pve.1_Nonsense_Mutation_p.R511*|NVL_uc010pvf.1_Intron	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	700						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)														---	---	---	---
JMJD4	65094	broad.mit.edu	37	1	227922492	227922492	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227922492G>A	uc001hrb.2	-	2	426	c.426C>T	c.(424-426)AAC>AAT	p.N142N	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.2_Silent_p.N142N	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	142											0		Prostate(94;0.0885)																---	---	---	---
GUK1	2987	broad.mit.edu	37	1	228335202	228335202	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228335202G>A	uc001hsh.2	+	6	650	c.347G>A	c.(346-348)CGG>CAG	p.R116Q	GUK1_uc001hsi.2_Missense_Mutation_p.R137Q|GUK1_uc001hsj.2_Missense_Mutation_p.R56Q|GUK1_uc010pvv.1_Missense_Mutation_p.R116Q|GJC2_uc001hsk.2_5'Flank	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	116	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228468013	228468013	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228468013C>T	uc009xez.1	+	29	7841	c.7797C>T	c.(7795-7797)AAC>AAT	p.N2599N	OBSCN_uc001hsn.2_Silent_p.N2599N|OBSCN_uc001hsp.1_Silent_p.N298N|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2599	Ig-like 25.				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	228564810	228564810	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228564810C>T	uc009xez.1	+	101	23141	c.23097C>T	c.(23095-23097)GCC>GCT	p.A7699A	OBSCN_uc001hsr.1_Silent_p.A2328A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7699	Protein kinase 2.				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	229631683	229631683	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229631683C>A	uc001htn.2	-	7	1023	c.931G>T	c.(931-933)GAT>TAT	p.D311Y		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	311					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)																---	---	---	---
EXOC8	149371	broad.mit.edu	37	1	231472113	231472113	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231472113C>A	uc001huq.2	-	1	1466	c.1379G>T	c.(1378-1380)TGC>TTC	p.C460F		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	460					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)																---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232581405	232581405	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232581405G>A	uc001hvg.2	-	9	3381	c.3223C>T	c.(3223-3225)CAG>TAG	p.Q1075*	SIPA1L2_uc001hvf.2_Nonsense_Mutation_p.Q149*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1075					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)																---	---	---	---
SLC35F3	148641	broad.mit.edu	37	1	234367256	234367256	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234367256C>T	uc001hwa.1	+	2	398	c.170C>T	c.(169-171)ACG>ATG	p.T57M	SLC35F3_uc001hvy.1_Missense_Mutation_p.T126M	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	57					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237923126	237923126	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237923126C>T	uc001hyl.1	+	83	11496	c.11376C>T	c.(11374-11376)AGC>AGT	p.S3792S	RYR2_uc010pya.1_Silent_p.S207S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3792					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
FH	2271	broad.mit.edu	37	1	241680522	241680522	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241680522G>A	uc001hyx.2	-	2	259	c.227C>T	c.(226-228)ACG>ATG	p.T76M		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	76					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)				Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685355	248685355	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248685355G>A	uc001ien.1	+	1	408	c.408G>A	c.(406-408)ATG>ATA	p.M136I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---
SH3BP5L	80851	broad.mit.edu	37	1	249108743	249108743	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:249108743G>A	uc001iew.1	-	5	994	c.442C>T	c.(442-444)CGA>TGA	p.R148*	SH3BP5L_uc010pzp.1_Nonsense_Mutation_p.R41*|SH3BP5L_uc010pzq.1_Nonsense_Mutation_p.R116*|SH3BP5L_uc001iev.1_Nonsense_Mutation_p.R29*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	148											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)															---	---	---	---
TTC15	51112	broad.mit.edu	37	2	3392162	3392162	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3392162C>T	uc002qxm.1	+	2	974	c.768C>T	c.(766-768)ACC>ACT	p.T256T	TTC15_uc002qxn.1_Silent_p.T256T|TTC15_uc010ewm.1_Silent_p.T256T|TTC15_uc002qxl.1_Silent_p.T256T	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	256							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)														---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9531279	9531279	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9531279G>A	uc002qzh.2	+	23	2812	c.2472G>A	c.(2470-2472)CCG>CCA	p.P824P	ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	824	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0																		---	---	---	---
ODC1	4953	broad.mit.edu	37	2	10582054	10582054	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10582054G>A	uc010exg.1	-	10	1349	c.915C>T	c.(913-915)GAC>GAT	p.D305D	ODC1_uc002ran.1_Translation_Start_Site|ODC1_uc002rao.1_Silent_p.D305D|ODC1_uc010yjd.1_Silent_p.D175D	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	305					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)													---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10917839	10917839	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10917839C>T	uc002ras.2	+	11	1063	c.954C>T	c.(952-954)GGC>GGT	p.G318G	ATP6V1C2_uc002rat.2_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	318					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)														---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11758499	11758499	+	Silent	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11758499C>A	uc002rbk.1	+	22	3798	c.3498C>A	c.(3496-3498)CCC>CCA	p.P1166P	GREB1_uc002rbp.1_Silent_p.P164P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1166	Ser-rich.					integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)														---	---	---	---
MYCN	4613	broad.mit.edu	37	2	16082320	16082320	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:16082320C>T	uc002rci.2	+	2	434	c.134C>T	c.(133-135)CCG>CTG	p.P45L	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.P37L	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	45					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)					A		neuroblastoma								---	---	---	---
HS1BP3	64342	broad.mit.edu	37	2	20845146	20845146	+	Missense_Mutation	SNP	G	A	A	rs149646332	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20845146G>A	uc002rdw.1	-	2	193	c.152C>T	c.(151-153)GCG>GTG	p.A51V	HS1BP3_uc002rdx.2_Missense_Mutation_p.A51V|HS1BP3_uc002rdy.2_Missense_Mutation_p.A51V	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	51	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
APOB	338	broad.mit.edu	37	2	21241915	21241915	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21241915T>C	uc002red.2	-	20	3198	c.3070A>G	c.(3070-3072)AGA>GGA	p.R1024G		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1024					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)													---	---	---	---
C2orf18	54978	broad.mit.edu	37	2	26999343	26999343	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26999343C>T	uc002rhp.1	+	5	715	c.639C>T	c.(637-639)GGC>GGT	p.G213G	C2orf18_uc002rhq.1_Silent_p.G130G|C2orf18_uc010eyo.1_Silent_p.G160G|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	213						integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
SLC5A6	8884	broad.mit.edu	37	2	27424654	27424654	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27424654A>G	uc002rjd.2	-	14	1815	c.1424T>C	c.(1423-1425)ATC>ACC	p.I475T	SLC5A6_uc010eyv.1_Missense_Mutation_p.I475T	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	475	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)													---	---	---	---
CLIP4	79745	broad.mit.edu	37	2	29404513	29404513	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29404513C>T	uc002rmv.2	+	16	2111	c.1872C>T	c.(1870-1872)CAC>CAT	p.H624H	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	624										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
GALNT14	79623	broad.mit.edu	37	2	31215869	31215869	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31215869G>A	uc002rnr.2	-	2	753	c.134C>T	c.(133-135)TCG>TTG	p.S45L	GALNT14_uc002rnq.2_Missense_Mutation_p.S25L|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.S10L|GALNT14_uc010ezo.1_Missense_Mutation_p.S45L|GALNT14_uc010ezp.1_Missense_Mutation_p.S16L	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	45	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32422847	32422847	+	Missense_Mutation	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32422847T>A	uc002roe.1	+	10	654	c.617T>A	c.(616-618)CTT>CAT	p.L206H	SLC30A6_uc002rof.1_Missense_Mutation_p.L246H|SLC30A6_uc010ymw.1_Missense_Mutation_p.L177H|SLC30A6_uc010ezr.1_Missense_Mutation_p.L206H|SLC30A6_uc002rog.1_Missense_Mutation_p.L9H|SLC30A6_uc010ezs.1_Missense_Mutation_p.L132H|SLC30A6_uc002roh.1_Missense_Mutation_p.L9H	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	206	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---
FAM98A	25940	broad.mit.edu	37	2	33811751	33811751	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33811751G>A	uc002rpa.1	-						FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_Intron|FAM98A_uc002roz.1_Intron	NM_015475	NP_056290			hypothetical protein LOC25940											ovary(1)	1	all_hematologic(175;0.115)																	---	---	---	---
EIF2AK2	5610	broad.mit.edu	37	2	37349801	37349801	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37349801C>T	uc010ynh.1	-	12	1472	c.915G>A	c.(913-915)GCG>GCA	p.A305A	EIF2AK2_uc010fab.1_Silent_p.A264A|EIF2AK2_uc010yng.1_Silent_p.A305A|EIF2AK2_uc010fac.2_Silent_p.A305A|EIF2AK2_uc010fad.2_Intron	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	305	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)																---	---	---	---
TMEM178	130733	broad.mit.edu	37	2	39944243	39944243	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39944243A>G	uc002rrt.2	+	4	771	c.746A>G	c.(745-747)GAT>GGT	p.D249G	TMEM178_uc010fam.1_Missense_Mutation_p.D203G	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	249	Extracellular (Potential).					integral to membrane					0		all_hematologic(82;0.248)																---	---	---	---
OXER1	165140	broad.mit.edu	37	2	42990086	42990086	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42990086C>T	uc002rss.2	-	1	1316	c.1234G>A	c.(1234-1236)GAG>AAG	p.E412K		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	412	Cytoplasmic (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1																		---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43956822	43956822	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43956822T>C	uc010yny.1	+	18	2851	c.2768T>C	c.(2767-2769)GTA>GCA	p.V923A	PLEKHH2_uc002rtf.3_Missense_Mutation_p.V922A	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	923						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50280726	50280726	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50280726G>A	uc010fbp.2	-	4	1423	c.616C>T	c.(616-618)CGT>TGT	p.R206C	NRXN1_uc002rxb.3_Missense_Mutation_p.R943C|NRXN1_uc010fbq.2_Missense_Mutation_p.R1311C|NRXN1_uc002rxe.3_Missense_Mutation_p.R1241C	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	206	Extracellular (Potential).|Laminin G-like.				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)															---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54839322	54839322	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54839322C>T	uc002rxu.2	+	4	574	c.325C>T	c.(325-327)CGC>TGC	p.R109C	SPTBN1_uc002rxv.1_Missense_Mutation_p.R109C|SPTBN1_uc002rxx.2_Missense_Mutation_p.R96C	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	109	CH 1.|Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)															---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688221	60688221	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:60688221G>A	uc002sae.1	-	4	2054	c.1826C>T	c.(1825-1827)CCG>CTG	p.P609L	BCL11A_uc002sab.2_Missense_Mutation_p.P609L|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.P278L|BCL11A_uc010ypj.1_Missense_Mutation_p.P575L|BCL11A_uc002sad.1_Missense_Mutation_p.P457L|BCL11A_uc002saf.1_Missense_Mutation_p.P575L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	609					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)					T	IGH@	B-CLL								---	---	---	---
TMEM17	200728	broad.mit.edu	37	2	62729851	62729851	+	Missense_Mutation	SNP	C	A	A	rs143642405		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:62729851C>A	uc002sbt.2	-	2	519	c.179G>T	c.(178-180)AGC>ATC	p.S60I	TMEM17_uc002sbu.2_Missense_Mutation_p.S60I|TMEM17_uc002sbv.1_Missense_Mutation_p.S35I	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	transmembrane protein 17	60	Helical; (Potential).					integral to membrane					0	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)															---	---	---	---
FBXO41	150726	broad.mit.edu	37	2	73490893	73490893	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73490893C>T	uc002sjb.1	-	8	2171	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	663						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73799651	73799651	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73799651C>T	uc002sje.1	+	18	10761	c.10650C>T	c.(10648-10650)AGC>AGT	p.S3550S	ALMS1_uc002sjf.1_Silent_p.S3506S|ALMS1_uc002sjg.2_Silent_p.S2936S|ALMS1_uc002sjh.1_Silent_p.S2936S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3548					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																		---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88409864	88409864	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88409864G>A	uc002ssr.2	+						SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Intron	NM_198274	NP_938015			SET and MYND domain containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
PROM2	150696	broad.mit.edu	37	2	95952596	95952596	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95952596G>A	uc002suh.1	+	18	2218	c.2085G>A	c.(2083-2085)CCG>CCA	p.P695P	PROM2_uc002sui.2_Silent_p.P695P|PROM2_uc002suj.2_Silent_p.P349P|PROM2_uc002suk.2_Silent_p.P695P|PROM2_uc002sul.2_Silent_p.P221P|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	695	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1																		---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100623462	100623462	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:100623462T>C	uc002tag.2	-	6	741	c.505A>G	c.(505-507)AGG>GGG	p.R169G	AFF3_uc002taf.2_Missense_Mutation_p.R194G|AFF3_uc010fiq.1_Missense_Mutation_p.R169G|AFF3_uc010yvr.1_Missense_Mutation_p.R323G|AFF3_uc002tah.1_Missense_Mutation_p.R194G|AFF3_uc010fir.1_Missense_Mutation_p.R246G|AFF3_uc002tai.2_Missense_Mutation_p.R91G	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	169					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6																		---	---	---	---
TBC1D8	11138	broad.mit.edu	37	2	101706808	101706808	+	Missense_Mutation	SNP	A	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101706808A>C	uc010fiv.2	-	2	277	c.146T>G	c.(145-147)CTG>CGG	p.L49R	TBC1D8_uc010yvw.1_Missense_Mutation_p.L49R	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	49					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3																		---	---	---	---
SULT1C3	442038	broad.mit.edu	37	2	108872147	108872147	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:108872147C>T	uc010ywo.1	+	4	519	c.519C>T	c.(517-519)TCC>TCT	p.S173S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	173						cytoplasm	alcohol sulfotransferase activity			skin(1)	1																		---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109513512	109513512	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109513512G>A	uc002teq.3	-	12	1629	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	EDAR_uc010fjn.2_Missense_Mutation_p.R432C|EDAR_uc010yws.1_Missense_Mutation_p.R432C	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	400	Death.|Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1																		---	---	---	---
DBI	1622	broad.mit.edu	37	2	120129887	120129887	+	Missense_Mutation	SNP	G	T	T	rs138712234		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120129887G>T	uc002tlv.2	+	4	381	c.257G>T	c.(256-258)GGG>GTG	p.G86V	DBI_uc010yyh.1_Missense_Mutation_p.G103V|DBI_uc010yyi.1_Missense_Mutation_p.G103V|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.G128V|DBI_uc010yyl.1_Missense_Mutation_p.G103V|DBI_uc010yym.1_Missense_Mutation_p.G96V|DBI_uc010yyn.1_Missense_Mutation_p.G103V|DBI_uc002tlw.2_Missense_Mutation_p.G103V|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.G87V	NM_001079862	NP_001073331	P07108	ACBP_HUMAN	diazepam binding inhibitor isoform 3	86	ACB.				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding				0																		---	---	---	---
BIN1	274	broad.mit.edu	37	2	127811028	127811028	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:127811028G>A	uc002tns.1	-						BIN1_uc010yzf.1_Intron|BIN1_uc010yzg.1_Intron|BIN1_uc002tnu.1_Intron|BIN1_uc002toa.1_Intron|BIN1_uc002tnt.1_Intron|BIN1_uc002tnv.1_Intron|BIN1_uc002tnw.1_Intron|BIN1_uc002tnx.1_Intron|BIN1_uc002tny.1_Intron|BIN1_uc002tnz.1_Intron|BIN1_uc002tob.1_Intron|BIN1_uc002toc.1_Intron	NM_139343	NP_647593			bridging integrator 1 isoform 1						cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)														---	---	---	---
PROC	5624	broad.mit.edu	37	2	128186242	128186242	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128186242C>T	uc002tok.2	+	9	1179	c.1106C>T	c.(1105-1107)CCG>CTG	p.P369L	PROC_uc002tol.2_Missense_Mutation_p.P390L|PROC_uc010yzi.1_Missense_Mutation_p.P425L|PROC_uc010yzj.1_Missense_Mutation_p.P264L|PROC_uc010yzk.1_Missense_Mutation_p.P424L|PROC_uc002tom.2_Missense_Mutation_p.P403L	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	369	Peptidase S1.		P -> L (in ADPROCD; Osaka-6).		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)													---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128861559	128861559	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128861559G>A	uc002tps.2	+	3	426	c.248G>A	c.(247-249)AGT>AAT	p.S83N	UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.2_Missense_Mutation_p.S59N	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	83					'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																		---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141092139	141092139	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141092139C>T	uc002tvj.1	-							NM_018557	NP_061027			low density lipoprotein-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---
NEB	4703	broad.mit.edu	37	2	152521935	152521935	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152521935C>T	uc010fnx.2	-	42	5341	c.5150G>A	c.(5149-5151)CGC>CAC	p.R1717H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1717	Nebulin 44.				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)														---	---	---	---
ACVR1	90	broad.mit.edu	37	2	158655948	158655948	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158655948T>C	uc002tzm.3	-	4	397	c.58A>G	c.(58-60)AGT>GGT	p.S20G	ACVR1_uc002tzn.3_Missense_Mutation_p.S20G|ACVR1_uc010fog.2_Missense_Mutation_p.S20G	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	20					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)													---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165551084	165551084	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165551084C>T	uc010zcw.1	-	15	3257	c.3133G>A	c.(3133-3135)GGT>AGT	p.G1045S	COBLL1_uc002ucp.2_Missense_Mutation_p.G978S|COBLL1_uc002ucq.2_Missense_Mutation_p.G940S|COBLL1_uc010zcx.1_Missense_Mutation_p.G986S|COBLL1_uc002ucn.2_Missense_Mutation_p.G406S|COBLL1_uc002uco.2_Missense_Mutation_p.G709S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	1016										ovary(2)|pancreas(1)	3																		---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	167760304	167760304	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167760304G>A	uc002udx.2	+	1	330	c.312G>A	c.(310-312)CGG>CGA	p.R104R	XIRP2_uc010fpn.2_Silent_p.R104R|XIRP2_uc010fpo.2_Silent_p.R104R|XIRP2_uc010fpp.2_Silent_p.R104R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172650198	172650198	+	Missense_Mutation	SNP	G	A	A	rs138477378	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172650198G>A	uc002uhh.2	-	14	1474	c.1385C>T	c.(1384-1386)ACG>ATG	p.T462M	SLC25A12_uc010fqh.2_Missense_Mutation_p.T355M	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	462	Solcar 2.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)													---	---	---	---
EVX2	344191	broad.mit.edu	37	2	176948324	176948324	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176948324C>T	uc010zeu.1	-	1	367	c.181G>A	c.(181-183)GCT>ACT	p.A61T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	61						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)														---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178879182	178879182	+	Silent	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178879182T>G	uc002ulq.2	-	2	1236	c.918A>C	c.(916-918)CGA>CGC	p.R306R	PDE11A_uc002ulr.2_Silent_p.R56R|PDE11A_uc002ult.1_Silent_p.R56R	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	306	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)											Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395856	179395856	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179395856C>A	uc010zfg.1	-	307	98006	c.97782G>T	c.(97780-97782)TGG>TGT	p.W32594C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W26289C|TTN_uc010zfi.1_Missense_Mutation_p.W26222C|TTN_uc010zfj.1_Missense_Mutation_p.W26097C|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33521							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	179446658	179446658	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179446658C>A	uc010zfg.1	-	264	58958	c.58734G>T	c.(58732-58734)AAG>AAT	p.K19578N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K13273N|TTN_uc010zfi.1_Missense_Mutation_p.K13206N|TTN_uc010zfj.1_Missense_Mutation_p.K13081N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20505							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	179485026	179485026	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179485026C>T	uc010zfg.1	-	197	38742	c.38518G>A	c.(38518-38520)GCT>ACT	p.A12840T	TTN_uc010zfh.1_Missense_Mutation_p.A6535T|TTN_uc010zfi.1_Missense_Mutation_p.A6468T|TTN_uc010zfj.1_Missense_Mutation_p.A6343T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13767							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	179596909	179596909	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179596909T>C	uc010zfg.1	-	54	13279	c.13055A>G	c.(13054-13056)GAG>GGG	p.E4352G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1013G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5279							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	179611344	179611344	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179611344T>C	uc002unb.2	-	46	16007	c.15783A>G	c.(15781-15783)ATA>ATG	p.I5261M	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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)															---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182763754	182763754	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182763754G>A	uc002uoi.2	+	6	740	c.418G>A	c.(418-420)GCC>ACC	p.A140T	SSFA2_uc002uoh.2_Missense_Mutation_p.A140T|SSFA2_uc002uoj.2_Missense_Mutation_p.A140T|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_5'UTR|SSFA2_uc002uol.2_5'UTR	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	140						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)															---	---	---	---
GTF3C3	9330	broad.mit.edu	37	2	197645348	197645348	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197645348G>A	uc002uts.2	-	9	1243	c.1153C>T	c.(1153-1155)CCA>TCA	p.P385S	GTF3C3_uc010zgu.1_Missense_Mutation_p.P385S|GTF3C3_uc002utu.2_Missense_Mutation_p.P385S|GTF3C3_uc002utt.3_Missense_Mutation_p.P60S	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	385						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7																		---	---	---	---
MARS2	92935	broad.mit.edu	37	2	198571290	198571290	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198571290T>C	uc002uuq.2	+	1	1204	c.1161T>C	c.(1159-1161)TAT>TAC	p.Y387Y	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	387					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)													---	---	---	---
AOX1	316	broad.mit.edu	37	2	201501717	201501717	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201501717G>T	uc002uvx.2	+	22	2531	c.2430G>T	c.(2428-2430)AAG>AAT	p.K810N	AOX1_uc010zhf.1_Missense_Mutation_p.K366N|AOX1_uc010fsu.2_Missense_Mutation_p.K176N	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	810					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)													---	---	---	---
BMPR2	659	broad.mit.edu	37	2	203384918	203384918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203384918C>T	uc002uzf.3	+	7	2109	c.961C>T	c.(961-963)CGA>TGA	p.R321*	BMPR2_uc010ftr.2_Nonsense_Mutation_p.R321*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	321	Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9																		---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203622055	203622055	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203622055C>T	uc010zhx.1	+	6	1234	c.1224C>T	c.(1222-1224)AGC>AGT	p.S408S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	408										ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	206480549	206480549	+	5'Flank	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206480549C>T	uc010fuc.1	+											Homo sapiens cDNA, FLJ92364.																														---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207171079	207171079	+	Missense_Mutation	SNP	A	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207171079A>C	uc002vbp.2	+	5	2077	c.1827A>C	c.(1825-1827)CAA>CAC	p.Q609H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	609							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---
MDH1B	130752	broad.mit.edu	37	2	207619812	207619812	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207619812G>A	uc002vbs.2	-	5	886	c.831C>T	c.(829-831)CAC>CAT	p.H277H	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.H277H|MDH1B_uc010fuj.2_Silent_p.H179H|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	277					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)														---	---	---	---
MYL1	4632	broad.mit.edu	37	2	211179625	211179625	+	Intron	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211179625A>G	uc002vec.2	-							NM_079420	NP_524144			fast skeletal myosin alkali light chain 1						muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			ovary(1)	1				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)														---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211471488	211471488	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211471488T>C	uc002vee.3	+	18	2147	c.2015T>C	c.(2014-2016)CTC>CCC	p.L672P	CPS1_uc010fur.2_Missense_Mutation_p.L678P|CPS1_uc010fus.2_Missense_Mutation_p.L221P	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	672	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212286760	212286760	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212286760C>T	uc002veg.1	-	24	3034	c.2936G>A	c.(2935-2937)CGA>CAA	p.R979Q	ERBB4_uc002veh.1_Missense_Mutation_p.R979Q|ERBB4_uc010zji.1_Missense_Mutation_p.R969Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R969Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	979	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	215274982	215274982	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215274982C>T	uc002veq.2	+	16	1931	c.1839C>T	c.(1837-1839)CAC>CAT	p.H613H	SPAG16_uc002ver.2_Silent_p.H559H|SPAG16_uc010zjk.1_Silent_p.H519H|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	613	WD 7.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)														---	---	---	---
XRCC5	7520	broad.mit.edu	37	2	217069929	217069929	+	3'UTR	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:217069929G>A	uc002vfy.2	+	21					XRCC5_uc002vfz.2_3'UTR	NM_021141	NP_066964			ATP-dependent DNA helicase II						double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)									Direct_reversal_of_damage|NHEJ					---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218713077	218713077	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218713077G>T	uc002vgt.2	-	17	2186	c.1788C>A	c.(1786-1788)CCC>CCA	p.P596P	TNS1_uc002vgr.2_Silent_p.P596P|TNS1_uc002vgs.2_Silent_p.P596P|TNS1_uc010zjv.1_Silent_p.P596P|TNS1_uc010fvj.1_Silent_p.P664P|TNS1_uc010fvk.1_Silent_p.P721P|TNS1_uc010fvi.1_Silent_p.P283P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	596						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)														---	---	---	---
CXCR2	3579	broad.mit.edu	37	2	218999632	218999632	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218999632C>T	uc002vgz.1	+	4	333	c.108C>T	c.(106-108)GCC>GCT	p.A36A	CXCR2_uc002vha.1_Silent_p.A36A|CXCR2_uc002vhb.1_Silent_p.A36A	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	36	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2																		---	---	---	---
C2orf62	375307	broad.mit.edu	37	2	219227555	219227555	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219227555G>A	uc002vhr.2	+	6	589	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	C2orf62_uc002vhs.2_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	187											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219529513	219529513	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219529513T>C	uc002vit.2	-	9	838	c.750A>G	c.(748-750)GGA>GGG	p.G250G	RNF25_uc010fvw.2_Silent_p.G138G	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219529955	219529955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219529955G>A	uc002vit.2	-	8	677	c.589C>T	c.(589-591)CAG>TAG	p.Q197*	RNF25_uc010fvw.2_Nonsense_Mutation_p.Q85*	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	197	RING-type.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
CRYBA2	1412	broad.mit.edu	37	2	219857874	219857874	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219857874G>A	uc002vjj.1	-	2	60	c.25C>T	c.(25-27)CCG>TCG	p.P9S	CRYBA2_uc002vjk.1_Missense_Mutation_p.P9S	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	9	N-terminal arm.						structural constituent of eye lens				0		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)														---	---	---	---
ANKZF1	55139	broad.mit.edu	37	2	220100486	220100486	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220100486G>A	uc002vkg.2	+	12	2034	c.1860G>A	c.(1858-1860)GAG>GAA	p.E620E	ANKZF1_uc002vkh.2_Silent_p.E410E|ANKZF1_uc002vki.2_Silent_p.E620E	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	620	Potential.					intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
DNAJB2	3300	broad.mit.edu	37	2	220149476	220149476	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220149476G>A	uc002vkx.1	+	9	979	c.742G>A	c.(742-744)GAC>AAC	p.D248N	DNAJB2_uc002vkw.1_Missense_Mutation_p.D248N|DNAJB2_uc002vky.2_Missense_Mutation_p.D64N|DNAJB2_uc010zlb.1_Missense_Mutation_p.D64N	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	248					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
GMPPA	29926	broad.mit.edu	37	2	220364856	220364856	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220364856A>G	uc002vlr.2	+	3	122	c.54A>G	c.(52-54)AGA>AGG	p.R18R	GMPPA_uc002vls.2_Silent_p.R18R|GMPPA_uc002vlt.2_Silent_p.R18R|GMPPA_uc002vlu.2_Silent_p.R18R|GMPPA_uc002vlv.2_Silent_p.R18R|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.R18R	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	18					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)														---	---	---	---
GMPPA	29926	broad.mit.edu	37	2	220370238	220370238	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220370238C>T	uc002vlr.2	+	9	882	c.814C>T	c.(814-816)CGG>TGG	p.R272W	GMPPA_uc002vls.2_Missense_Mutation_p.R272W|GMPPA_uc002vlt.2_Missense_Mutation_p.R272W|GMPPA_uc002vlu.2_Missense_Mutation_p.R272W|GMPPA_uc002vlv.2_Missense_Mutation_p.R272W|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.R272W	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	272					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)														---	---	---	---
TMEM198	130612	broad.mit.edu	37	2	220413997	220413997	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220413997C>A	uc002vme.2	+	5	1451	c.866C>A	c.(865-867)CCC>CAC	p.P289H	TMEM198_uc002vmf.2_Missense_Mutation_p.P289H|hsa-mir-3132|MI0014152_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	289	Arg-rich.					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)														---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225400346	225400346	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225400346C>T	uc002vny.2	-	3	661	c.277G>A	c.(277-279)GTA>ATA	p.V93I	CUL3_uc010zls.1_Missense_Mutation_p.V27I|CUL3_uc010fwy.1_Missense_Mutation_p.V99I	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	93					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)														---	---	---	---
ALPI	248	broad.mit.edu	37	2	233321901	233321901	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233321901G>A	uc002vst.3	+	5	594	c.517G>A	c.(517-519)GCC>ACC	p.A173T	ALPI_uc002vsu.3_Missense_Mutation_p.A84T	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	173					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)														---	---	---	---
SAG	6295	broad.mit.edu	37	2	234255044	234255044	+	Intron	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234255044T>C	uc002vuh.2	+						SAG_uc010zmq.1_Intron	NM_000541	NP_000532			S-arrestin						rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)														---	---	---	---
SH3BP4	23677	broad.mit.edu	37	2	235943690	235943690	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:235943690C>A	uc002vvp.2	+	3	437	c.44C>A	c.(43-45)CCT>CAT	p.P15H	SH3BP4_uc010fym.2_Missense_Mutation_p.P15H|SH3BP4_uc002vvq.2_Missense_Mutation_p.P15H	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	15					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)														---	---	---	---
MLPH	79083	broad.mit.edu	37	2	238402189	238402189	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238402189C>T	uc002vwt.2	+						MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron	NM_024101	NP_077006			melanophilin isoform 1								metal ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)														---	---	---	---
GPC1	2817	broad.mit.edu	37	2	241398563	241398563	+	Missense_Mutation	SNP	G	A	A	rs146749086		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241398563G>A	uc002vyw.3	+	2	504	c.283G>A	c.(283-285)GTC>ATC	p.V95I	PP14571_uc002vyy.1_5'Flank	NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	95					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(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;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)														---	---	---	---
PASK	23178	broad.mit.edu	37	2	242080060	242080060	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242080060C>T	uc002wao.1	-	3	397	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	PASK_uc010zol.1_Intron|PASK_uc010zom.1_Missense_Mutation_p.R102Q|PASK_uc010fzl.1_Missense_Mutation_p.R102Q|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.R102Q	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	102					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)														---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2908528	2908528	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:2908528A>G	uc003bpc.2	+	7	768	c.547A>G	c.(547-549)AAA>GAA	p.K183E	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.K183E	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	183	Ig-like C2-type 2.				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)														---	---	---	---
ARL8B	55207	broad.mit.edu	37	3	5216019	5216019	+	Intron	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:5216019C>A	uc003bqg.2	+						ARL8B_uc011asx.1_Intron|ARL8B_uc011asy.1_Intron	NM_018184	NP_060654			ADP-ribosylation factor-like 10C						cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)														---	---	---	---
GPD1L	23171	broad.mit.edu	37	3	32200523	32200523	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32200523C>T	uc003cew.2	+	6	834	c.774C>T	c.(772-774)TGC>TGT	p.C258C		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	258					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0																		---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38591803	38591803	+	3'UTR	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38591803G>A	uc003cio.2	-	28					SCN5A_uc003cin.2_3'UTR|SCN5A_uc003cil.3_3'UTR|SCN5A_uc010hhi.2_3'UTR|SCN5A_uc010hhk.2_3'UTR|SCN5A_uc011ayr.1_3'UTR	NM_198056	NP_932173			voltage-gated sodium channel type V alpha						blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38596043	38596043	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38596043G>A	uc003cio.2	-						SCN5A_uc003cin.2_Intron|SCN5A_uc003cil.3_Intron|SCN5A_uc010hhi.2_Intron|SCN5A_uc010hhk.2_Intron|SCN5A_uc011ayr.1_Intron	NM_198056	NP_932173			voltage-gated sodium channel type V alpha						blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47036838	47036838	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47036838G>A	uc003cqp.2	+	13	1792	c.1613G>A	c.(1612-1614)CGC>CAC	p.R538H	NBEAL2_uc003cqq.1_Missense_Mutation_p.R504H|NBEAL2_uc010hjm.1_Missense_Mutation_p.R99H	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	538							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48670411	48670411	+	Silent	SNP	G	A	A	rs13084591		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48670411G>A	uc003cuf.1	-	39	10611	c.10611C>T	c.(10609-10611)TCC>TCT	p.S3537S	SLC26A6_uc003cug.2_Silent_p.S122S|SLC26A6_uc003cuh.2_Silent_p.S143S|SLC26A6_uc010hke.2_5'UTR|SLC26A6_uc003cuk.2_Silent_p.S143S|SLC26A6_uc003cui.2_Silent_p.S143S|SLC26A6_uc003cuj.2_Silent_p.S143S|SLC26A6_uc011bbp.1_Silent_p.S143S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49084635	49084635	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49084635T>C	uc010hkq.2	-	5	1679	c.1383A>G	c.(1381-1383)CCA>CCG	p.P461P	QRICH1_uc003cvu.2_Silent_p.P461P|QRICH1_uc003cvv.2_Silent_p.P461P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	461	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)														---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49168259	49168259	+	Missense_Mutation	SNP	C	T	T	rs144771072		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49168259C>T	uc003cwe.2	-	8	1249	c.950G>A	c.(949-951)CGT>CAT	p.R317H	LAMB2_uc003cwf.1_Missense_Mutation_p.R317H	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	317	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
NICN1	84276	broad.mit.edu	37	3	49463813	49463813	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49463813G>A	uc003cwz.1	-	2	266	c.181C>T	c.(181-183)CGT>TGT	p.R61C	NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.R61C	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	nicolin 1	61						microtubule|nucleus					0				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51418838	51418838	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51418838C>T	uc011bds.1	+	53	5964	c.5941C>T	c.(5941-5943)CGC>TGC	p.R1981C		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1981						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---
RBM15B	29890	broad.mit.edu	37	3	51430611	51430611	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51430611G>T	uc003dbd.2	+	1	1881	c.1781G>T	c.(1780-1782)CGG>CTG	p.R594L		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	594	Nuclear localization signal (Potential).				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)														---	---	---	---
ACY1	95	broad.mit.edu	37	3	52020612	52020612	+	Intron	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52020612C>A	uc003dcp.2	+						ACY1_uc011bea.1_Intron|ACY1_uc011beb.1_Intron|ACY1_uc003dcq.2_Intron	NM_000666	NP_000657			aminoacylase 1						cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)													---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52551616	52551616	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52551616C>T	uc003dej.2	+	44	4688	c.4614C>T	c.(4612-4614)TGC>TGT	p.C1538C	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1538	EGF-like 12.|Extracellular (Potential).				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)														---	---	---	---
ITIH4	3700	broad.mit.edu	37	3	52857988	52857988	+	Missense_Mutation	SNP	C	T	T	rs74971919	byFrequency;by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52857988C>T	uc003dfz.2	-	10	1240	c.1204G>A	c.(1204-1206)GTG>ATG	p.V402M	ITIH4_uc011bel.1_Missense_Mutation_p.V132M|ITIH4_uc003dfy.2_Missense_Mutation_p.V266M|ITIH4_uc011bem.1_Missense_Mutation_p.V402M|ITIH4_uc011ben.1_Missense_Mutation_p.V402M	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	402	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)														---	---	---	---
DCP1A	55802	broad.mit.edu	37	3	53326747	53326747	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53326747C>T	uc003dgs.3	-	7	828	c.735G>A	c.(733-735)TTG>TTA	p.L245L	DCP1A_uc003dgt.3_RNA	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	DCP1 decapping enzyme homolog A	245					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)														---	---	---	---
WNT5A	7474	broad.mit.edu	37	3	55513421	55513421	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:55513421G>A	uc003dhn.2	-	3	630	c.312C>T	c.(310-312)TGC>TGT	p.C104C	WNT5A_uc003dhm.2_Silent_p.C89C|WNT5A_uc010hmw.2_Silent_p.C89C|WNT5A_uc010hmx.2_Silent_p.C15C	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	104					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)														---	---	---	---
ERC2	26059	broad.mit.edu	37	3	56468490	56468490	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56468490A>G	uc003dhr.1	-	2	802	c.546T>C	c.(544-546)ATT>ATC	p.I182I		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	182	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)														---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62636706	62636706	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62636706A>G	uc003dll.2	-	5	1379	c.1019T>C	c.(1018-1020)ATT>ACT	p.I340T	CADPS_uc003dlm.2_Missense_Mutation_p.I340T|CADPS_uc003dln.2_Missense_Mutation_p.I340T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	340					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)														---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65342612	65342612	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:65342612T>C	uc003dmn.2	-	23	4356	c.3830A>G	c.(3829-3831)AAT>AGT	p.N1277S	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1306					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)														---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65425596	65425596	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:65425596G>A	uc003dmn.2	-	9	1754	c.1228C>T	c.(1228-1230)CAG>TAG	p.Q410*	MAGI1_uc003dmm.2_Nonsense_Mutation_p.Q410*|MAGI1_uc003dmo.2_Nonsense_Mutation_p.Q410*|MAGI1_uc003dmp.2_Nonsense_Mutation_p.Q410*|MAGI1_uc010hny.2_Nonsense_Mutation_p.Q295*	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	410	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)												OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CCDC52	152185	broad.mit.edu	37	3	113172563	113172563	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113172563G>T	uc003eag.3	-	14	2183	c.1892C>A	c.(1891-1893)TCC>TAC	p.S631Y	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.S527Y	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	631					cell division|mitosis	centriole|spindle	protein binding				0																		---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113503531	113503531	+	Intron	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113503531A>G	uc003eao.2	+						ATP6V1A_uc011bik.1_Intron	NM_001690	NP_001681			ATPase, H+ transporting, lysosomal V1 subunit A						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																		---	---	---	---
QTRTD1	79691	broad.mit.edu	37	3	113784223	113784223	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113784223G>A	uc003eay.2	+	3	349	c.119G>A	c.(118-120)GGC>GAC	p.G40D	QTRTD1_uc003eaz.2_Missense_Mutation_p.G52D|QTRTD1_uc011biq.1_Intron|QTRTD1_uc011bir.1_Intron|QTRTD1_uc003eba.2_5'Flank	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	40					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121207550	121207550	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121207550G>T	uc003eee.3	-	16	4357	c.4228C>A	c.(4228-4230)CTG>ATG	p.L1410M	POLQ_uc003eed.2_Missense_Mutation_p.L582M	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1410					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)					---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122247346	122247346	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122247346G>A	uc010hri.2	-	11	2575	c.2430C>T	c.(2428-2430)GGC>GGT	p.G810G	PARP9_uc003eff.3_Silent_p.G775G|PARP9_uc011bjs.1_Silent_p.G775G|PARP9_uc003efg.2_Silent_p.G355G|PARP9_uc003efi.2_Silent_p.G775G|PARP9_uc003efh.2_Silent_p.G810G	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	810	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)														---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125873468	125873468	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125873468C>T	uc003eim.1	-	6	839	c.649G>A	c.(649-651)GCA>ACA	p.A217T	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Missense_Mutation_p.A243T|ALDH1L1_uc003eip.1_Missense_Mutation_p.A124T|ALDH1L1_uc011bkj.1_Missense_Mutation_p.A42T	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	217					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)													---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129198669	129198669	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129198669G>A	uc003emm.2	+	13	1598	c.1392G>A	c.(1390-1392)GAG>GAA	p.E464E	IFT122_uc003eml.2_Silent_p.E515E|IFT122_uc003emn.2_Silent_p.E405E|IFT122_uc003emo.2_Silent_p.E353E|IFT122_uc003emp.2_Silent_p.E314E|IFT122_uc010htc.2_Silent_p.E456E|IFT122_uc011bky.1_Silent_p.E255E|IFT122_uc003emq.2_Silent_p.E304E|IFT122_uc003emr.2_Silent_p.E255E|IFT122_uc011bla.1_Silent_p.E255E|IFT122_uc011bkx.1_Silent_p.E304E|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_5'Flank	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	464					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2																		---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129304808	129304808	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129304808C>T	uc003emx.2	-	5	1938	c.1838G>A	c.(1837-1839)CGC>CAC	p.R613H		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	613	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130300576	130300576	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130300576C>A	uc010htl.2	+	8	3750	c.3719C>A	c.(3718-3720)GCT>GAT	p.A1240D	COL6A6_uc003eni.3_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1240	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132175582	132175582	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132175582G>A	uc003eor.2	+	12	1320	c.1255G>A	c.(1255-1257)GTT>ATT	p.V419I	DNAJC13_uc010htq.1_Missense_Mutation_p.V419I|DNAJC13_uc003eos.1_Missense_Mutation_p.V86I	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	419							heat shock protein binding			ovary(1)|breast(1)	2																		---	---	---	---
SRPRB	58477	broad.mit.edu	37	3	133534433	133534433	+	Splice_Site	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133534433G>T	uc003epx.1	+	5	427	c.411_splice	c.e5-1	p.G137_splice		NM_021203	NP_067026			signal recognition particle receptor, beta							endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1																		---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141163525	141163525	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141163525T>C	uc003etw.2	+	8	3277	c.2295T>C	c.(2293-2295)GGT>GGC	p.G765G	ZBTB38_uc010hun.2_Silent_p.G762G|ZBTB38_uc010huo.2_Silent_p.G765G|ZBTB38_uc003ety.2_Silent_p.G765G|ZBTB38_uc010hup.2_Silent_p.G766G	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	765					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147130475	147130475	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147130475G>A	uc003ewe.2	+							NM_003412	NP_003403			zinc finger protein of the cerebellum 1						behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MLF1	4291	broad.mit.edu	37	3	158320655	158320655	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158320655C>T	uc003fcb.2	+	6	765	c.628C>T	c.(628-630)CGA>TGA	p.R210*	MLF1_uc003fbz.2_Nonsense_Mutation_p.R185*|MLF1_uc003fca.2_Nonsense_Mutation_p.R185*|MLF1_uc003fbx.2_Nonsense_Mutation_p.R200*|MLF1_uc003fcc.2_Nonsense_Mutation_p.R241*|MLF1_uc003fby.2_Nonsense_Mutation_p.R136*|MLF1_uc010hvx.2_Nonsense_Mutation_p.R142*	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	210					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)					T	NPM1	AML								---	---	---	---
SCHIP1	29970	broad.mit.edu	37	3	158980401	158980401	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158980401C>A	uc003fcq.1	+	4	325	c.220C>A	c.(220-222)CCA>ACA	p.P74T	SCHIP1_uc003fcr.1_5'UTR|IQCJ_uc003fco.2_Missense_Mutation_p.P74T|IQCJ_uc010hvy.1_Missense_Mutation_p.P47T|IQCJ_uc003fcp.1_Missense_Mutation_p.P74T	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	Error:Variant_position_missing_in_Q9P0W5_after_alignment						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)															---	---	---	---
BCHE	590	broad.mit.edu	37	3	165491234	165491234	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:165491234A>G	uc003fem.3	-	4	1905	c.1745T>C	c.(1744-1746)ATG>ACG	p.M582T	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	582					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)													---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167023611	167023611	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167023611A>G	uc003fep.2	-	17	1868	c.1545T>C	c.(1543-1545)AGT>AGC	p.S515S	ZBBX_uc011bpc.1_Silent_p.S515S|ZBBX_uc003feq.2_Silent_p.S486S	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	515						intracellular	zinc ion binding			ovary(2)	2																		---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	174814794	174814794	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:174814794C>T	uc003fit.2	+	2	345	c.258C>T	c.(256-258)TCC>TCT	p.S86S	NAALADL2_uc003fiu.1_Silent_p.S79S	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	86	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)														---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183823624	183823624	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183823624C>T	uc010hxq.2	+	7	1258	c.792C>T	c.(790-792)ATC>ATT	p.I264I	HTR3E_uc003fml.3_Silent_p.I249I|HTR3E_uc003fmm.2_Silent_p.I279I|HTR3E_uc010hxr.2_Silent_p.I290I|HTR3E_uc003fmn.2_Silent_p.I264I	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	264	Helical; Name=1; (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)															---	---	---	---
CHRD	8646	broad.mit.edu	37	3	184104513	184104513	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184104513C>T	uc003fov.2	+	16	2412	c.2166C>T	c.(2164-2166)TAC>TAT	p.Y722Y	CHRD_uc003fow.2_Silent_p.Y352Y|CHRD_uc003fox.2_Silent_p.Y722Y|CHRD_uc003foy.2_Silent_p.Y352Y|CHRD_uc010hyc.2_Silent_p.Y312Y|CHRD_uc011brr.1_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	722	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185191163	185191163	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185191163C>A	uc010hyf.2	+	12	2310	c.2044C>A	c.(2044-2046)CCA>ACA	p.P682T	MAP3K13_uc011brt.1_Missense_Mutation_p.P475T|MAP3K13_uc011bru.1_Missense_Mutation_p.P538T|MAP3K13_uc003fpi.2_Missense_Mutation_p.P682T|MAP3K13_uc010hyg.2_Missense_Mutation_p.P372T	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	682					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)															---	---	---	---
LIPH	200879	broad.mit.edu	37	3	185237017	185237017	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185237017C>T	uc003fpm.2	-	6	909	c.799G>A	c.(799-801)GCG>ACG	p.A267T	LIPH_uc010hyh.2_Missense_Mutation_p.A233T	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	lipase, member H precursor	267					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(1)|pancreas(1)	2	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)															---	---	---	---
ADIPOQ	9370	broad.mit.edu	37	3	186570969	186570969	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186570969C>T	uc003fra.2	+	2	206	c.122C>T	c.(121-123)GCG>GTG	p.A41V	ADIPOQ_uc010hyy.2_Missense_Mutation_p.A41V	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	adiponectin precursor	41					brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)														---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196744090	196744090	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196744090G>A	uc003fxk.3	-	7	897	c.784C>T	c.(784-786)CGG>TGG	p.R262W		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	262	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)														---	---	---	---
PIGG	54872	broad.mit.edu	37	4	515707	515707	+	Missense_Mutation	SNP	G	A	A	rs143362968		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:515707G>A	uc003gak.3	+	8	1727	c.1591G>A	c.(1591-1593)GTG>ATG	p.V531M	PIGG_uc003gaj.3_Missense_Mutation_p.V523M|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.V398M|PIGG_uc003gal.3_Missense_Mutation_p.V442M|PIGG_uc003gai.2_Intron|PIGG_uc011buw.1_3'UTR|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Missense_Mutation_p.V442M	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	531					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4																		---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1018752	1018752	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1018752C>T	uc003gce.2	+	7	1293	c.1132C>T	c.(1132-1134)CCC>TCC	p.P378S	FGFRL1_uc003gcf.2_Missense_Mutation_p.P378S|FGFRL1_uc003gcg.2_Missense_Mutation_p.P378S|FGFRL1_uc010ibo.2_Missense_Mutation_p.P378S	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	378	Extracellular (Potential).			Missing (in Ref. 3; AAK15273).	regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389203	1389203	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1389203G>A	uc003gdf.2	+	1	3864	c.904G>A	c.(904-906)GCT>ACT	p.A302T		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	302					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---
HTT	3064	broad.mit.edu	37	4	3215825	3215825	+	Nonsense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3215825C>A	uc011bvq.1	+	51	7066	c.6921C>A	c.(6919-6921)TGC>TGA	p.C2307*		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2305					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)														---	---	---	---
HGFAC	3083	broad.mit.edu	37	4	3449908	3449908	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3449908G>A	uc003ghc.2	+	13	1693	c.1690G>A	c.(1690-1692)GAC>AAC	p.D564N	HGFAC_uc010icw.2_Missense_Mutation_p.D571N	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	564	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)														---	---	---	---
TADA2B	93624	broad.mit.edu	37	4	7056395	7056395	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7056395C>T	uc003gjw.3	+	2	1028	c.877C>T	c.(877-879)CGG>TGG	p.R293W	TADA2B_uc010idi.2_Missense_Mutation_p.R218W	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0																		---	---	---	---
GPR78	27201	broad.mit.edu	37	4	8584304	8584304	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8584304G>A	uc003glk.2	+	2	1134	c.715G>A	c.(715-717)GCC>ACC	p.A239T	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	239	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20255627	20255627	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20255627C>T	uc003gpr.1	+						SLIT2_uc003gps.1_Intron	NM_004787	NP_004778			slit homolog 2 precursor						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
PPARGC1A	10891	broad.mit.edu	37	4	23815550	23815550	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:23815550T>C	uc003gqs.2	-	8	1676	c.1556A>G	c.(1555-1557)GAT>GGT	p.D519G	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	519					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)																---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005583	25005583	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25005583C>T	uc003grf.2	-	8	1227	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	376	EAR 4.					extracellular region					0		Breast(46;0.173)																---	---	---	---
APBB2	323	broad.mit.edu	37	4	40946874	40946874	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40946874C>T	uc003gvl.2	-						APBB2_uc010ifu.2_Intron|APBB2_uc003gvm.2_Intron|APBB2_uc003gvn.2_Intron|APBB2_uc011byt.1_Intron	NM_173075	NP_775098			amyloid beta A4 precursor protein-binding,						cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
GUF1	60558	broad.mit.edu	37	4	44680700	44680700	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44680700G>T	uc003gww.3	+	1	268	c.61G>T	c.(61-63)GGG>TGG	p.G21W	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	21					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
NFXL1	152518	broad.mit.edu	37	4	47901438	47901438	+	Missense_Mutation	SNP	G	A	A	rs139473913	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47901438G>A	uc010igh.2	-	6	952	c.775C>T	c.(775-777)CGT>TGT	p.R259C	NFXL1_uc003gxp.2_Missense_Mutation_p.R259C|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.R259C	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	259						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52944991	52944991	+	Missense_Mutation	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:52944991T>G	uc003gzl.2	+	8	1389	c.1111T>G	c.(1111-1113)TTT>GTT	p.F371V	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.F339V|SPATA18_uc003gzk.1_Missense_Mutation_p.F371V	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	371					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)															---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54324899	54324899	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54324899C>T	uc003gzy.2	+	17	1765	c.1579C>T	c.(1579-1581)CGA>TGA	p.R527*	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Nonsense_Mutation_p.R521*|FIP1L1_uc003gzz.2_Nonsense_Mutation_p.R453*|FIP1L1_uc003hab.2_Nonsense_Mutation_p.R492*|FIP1L1_uc003hac.2_Nonsense_Mutation_p.R281*|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Silent_p.N111N|FIP1L1_uc003hae.2_Silent_p.N114N	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	527	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)					T	PDGFRA	idiopathic hypereosinophilic syndrome								---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57211364	57211364	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57211364T>C	uc003hbn.2	-	12	2734	c.2581A>G	c.(2581-2583)ACC>GCC	p.T861A	AASDH_uc010ihb.2_Missense_Mutation_p.T376A|AASDH_uc011caa.1_Intron|AASDH_uc003hbo.2_Missense_Mutation_p.T761A|AASDH_uc011cab.1_Missense_Mutation_p.T376A|AASDH_uc010ihc.2_Intron	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	861					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)																---	---	---	---
Unknown	0	broad.mit.edu	37	4	69332409	69332409	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69332409C>T	uc003hdz.3	+	3	261	c.197C>T	c.(196-198)GCT>GTT	p.A66V		NM_014058	NP_054777			transmembrane protease, serine 11E																														---	---	---	---
GC	2638	broad.mit.edu	37	4	72618268	72618268	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72618268G>A	uc003hge.2	-	11	1515	c.1362C>T	c.(1360-1362)TCC>TCT	p.S454S	GC_uc003hgd.2_Silent_p.S332S|GC_uc010iie.2_Silent_p.S454S|GC_uc010iif.2_Silent_p.S473S	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	454	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)													---	---	---	---
CXCL9	4283	broad.mit.edu	37	4	76927393	76927393	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76927393G>A	uc003hjh.1	-	2	138	c.99C>T	c.(97-99)TGC>TGT	p.C33C		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	small inducible cytokine B9 precursor	33					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
COQ2	27235	broad.mit.edu	37	4	84185441	84185441	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84185441C>T	uc003hog.2	-	7	1074	c.1066G>A	c.(1066-1068)GTT>ATT	p.V356I	COQ2_uc011ccp.1_Intron|COQ2_uc003hof.2_RNA	NM_015697	NP_056512	Q96H96	COQ2_HUMAN	para-hydroxybenzoate-polyprenyltransferase,	343	Helical; (Potential).				glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity	p.A356A(1)		ovary(1)|central_nervous_system(1)	2		Hepatocellular(203;0.114)																---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100510863	100510863	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100510863G>T	uc003hvc.3	+	5	713	c.457G>T	c.(457-459)GCT>TCT	p.A153S	MTTP_uc011cej.1_Missense_Mutation_p.A180S	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	153	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)													---	---	---	---
USP53	54532	broad.mit.edu	37	4	120192809	120192809	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120192809T>C	uc003ics.3	+	15	2860	c.1794T>C	c.(1792-1794)AGT>AGC	p.S598S	USP53_uc003icr.3_Silent_p.S598S|USP53_uc003icu.3_Silent_p.S221S|USP53_uc003ict.2_Silent_p.S221S	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	598					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4																		---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122774171	122774171	+	Silent	SNP	G	A	A	rs140478463		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122774171G>A	uc003ied.2	-	8	963	c.789C>T	c.(787-789)GAC>GAT	p.D263D	BBS7_uc003iee.1_Silent_p.D263D	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	263					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072659	134072659	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134072659A>G	uc003iha.2	+	1	2190	c.1364A>G	c.(1363-1365)GAT>GGT	p.D455G	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D455G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	455	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138451760	138451760	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:138451760C>T	uc003ihe.3	-	1	1870	c.1483G>A	c.(1483-1485)GGA>AGA	p.G495R	PCDH18_uc003ihf.3_Missense_Mutation_p.G488R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.G275R|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	495	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)																	---	---	---	---
DCLK2	166614	broad.mit.edu	37	4	151000401	151000401	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151000401G>A	uc003ilm.3	+	1	322	c.222G>A	c.(220-222)GCG>GCA	p.A74A	DCLK2_uc003iln.3_Silent_p.A74A|DCLK2_uc003ilo.3_Silent_p.A74A|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	74	Doublecortin 1.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)																	---	---	---	---
SFRP2	6423	broad.mit.edu	37	4	154709663	154709663	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154709663C>T	uc003inv.1	-	1	566	c.325G>A	c.(325-327)GAG>AAG	p.E109K		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	109	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)																---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158224724	158224724	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158224724G>A	uc003ipm.3	+	3	709	c.250G>A	c.(250-252)GGA>AGA	p.G84R	GRIA2_uc011cit.1_Missense_Mutation_p.G37R|GRIA2_uc003ipl.3_Missense_Mutation_p.G84R|GRIA2_uc003ipk.3_Missense_Mutation_p.G37R|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	84	Extracellular (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)													---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158233935	158233935	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158233935T>C	uc003ipm.3	+	4	1033	c.574T>C	c.(574-576)TAC>CAC	p.Y192H	GRIA2_uc011cit.1_Missense_Mutation_p.Y145H|GRIA2_uc003ipl.3_Missense_Mutation_p.Y192H|GRIA2_uc003ipk.3_Missense_Mutation_p.Y145H|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	192	Extracellular (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)													---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166913974	166913974	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166913974C>A	uc003irh.1	+	3	946	c.299C>A	c.(298-300)GCT>GAT	p.A100D	TLL1_uc011cjn.1_Missense_Mutation_p.A100D|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	100					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)														---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166986981	166986981	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166986981A>G	uc003irh.1	+	16	2801	c.2154A>G	c.(2152-2154)GTA>GTG	p.V718V	TLL1_uc011cjn.1_Silent_p.V741V|TLL1_uc011cjo.1_Silent_p.V542V	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	718	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)														---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186578702	186578702	+	Missense_Mutation	SNP	G	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186578702G>C	uc003iyl.2	-	6	1001	c.143C>G	c.(142-144)ACC>AGC	p.T48S	SORBS2_uc003iyh.2_Missense_Mutation_p.T227S|SORBS2_uc011ckw.1_Missense_Mutation_p.T117S|SORBS2_uc003iyi.2_Missense_Mutation_p.T134S|SORBS2_uc011ckx.1_Missense_Mutation_p.T94S|SORBS2_uc003iyk.2_Missense_Mutation_p.T134S|SORBS2_uc003iym.2_Missense_Mutation_p.T148S|SORBS2_uc003iyn.1_Missense_Mutation_p.T94S|SORBS2_uc011cky.1_Missense_Mutation_p.T111S|SORBS2_uc003iyp.2_Missense_Mutation_p.T148S|SORBS2_uc011cku.1_5'Flank|SORBS2_uc011ckv.1_5'Flank|SORBS2_uc003iyd.2_Missense_Mutation_p.T227S|SORBS2_uc003iye.2_Missense_Mutation_p.T48S|SORBS2_uc003iya.2_Missense_Mutation_p.T48S|SORBS2_uc003iyb.2_Missense_Mutation_p.T48S|SORBS2_uc003iyc.2_Missense_Mutation_p.T48S|SORBS2_uc003iyg.2_Missense_Mutation_p.T134S|SORBS2_uc003iyf.2_Missense_Mutation_p.T111S|SORBS2_uc003iyo.1_5'Flank	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	48						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---
FRG2	448831	broad.mit.edu	37	4	190947568	190947568	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:190947568C>T	uc003izv.2	-	3	355	c.302G>A	c.(301-303)AGT>AAT	p.S101N	FRG2_uc011clh.1_Missense_Mutation_p.S102N	NM_001005217	NP_001005217	Q64ET8	FRG2_HUMAN	FSHD region gene 2	101						nucleus				ovary(1)	1		all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513)		all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155)														---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13809168	13809168	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13809168A>G	uc003jfd.2	-	46	7779	c.7737T>C	c.(7735-7737)ATT>ATC	p.I2579I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2579	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13811783	13811783	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13811783G>A	uc003jfd.2	-	44	7422	c.7380C>T	c.(7378-7380)AAC>AAT	p.N2460N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2460					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
ZNF622	90441	broad.mit.edu	37	5	16453248	16453248	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16453248G>A	uc003jfq.2	-	5	1300	c.1180C>T	c.(1180-1182)CGC>TGC	p.R394C		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	394						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19571934	19571934	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19571934T>C	uc003jgc.2	-	7	1384	c.1007A>G	c.(1006-1008)AAC>AGC	p.N336S	CDH18_uc003jgd.2_Missense_Mutation_p.N336S|CDH18_uc011cnm.1_Missense_Mutation_p.N336S	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	336	Extracellular (Potential).|Cadherin 3.				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)																	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975261	21975261	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21975261A>G	uc010iuc.2	-	3	923	c.465T>C	c.(463-465)GAT>GAC	p.D155D	CDH12_uc011cno.1_Silent_p.D155D|CDH12_uc003jgk.2_Silent_p.D155D	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	155	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32074276	32074276	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32074276C>T	uc003jhl.2	+	18	3452	c.3064C>T	c.(3064-3066)CGG>TGG	p.R1022W	PDZD2_uc003jhm.2_Missense_Mutation_p.R1022W|PDZD2_uc011cnx.1_Missense_Mutation_p.R848W	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1022					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937425	33937425	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33937425C>T	uc003jic.1	+	1	937	c.580C>T	c.(580-582)CGA>TGA	p.R194*		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	194	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33938066	33938066	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33938066C>T	uc003jic.1	+	1	1578	c.1221C>T	c.(1219-1221)ATC>ATT	p.I407I		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	407	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36976448	36976448	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36976448T>C	uc003jkl.3	+	9	1938	c.1439T>C	c.(1438-1440)ATA>ACA	p.I480T	NIPBL_uc003jkk.3_Missense_Mutation_p.I480T|NIPBL_uc003jkm.1_Missense_Mutation_p.I359T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	480					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)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39388902	39388902	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39388902G>A	uc003jlx.2	-	8	1154	c.623C>T	c.(622-624)TCG>TTG	p.S208L	DAB2_uc003jlw.2_Missense_Mutation_p.S208L	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	208					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61763069	61763069	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:61763069C>T	uc003jtc.2	+	6	818	c.628C>T	c.(628-630)CGA>TGA	p.R210*	IPO11_uc011cqr.1_Nonsense_Mutation_p.R250*|IPO11_uc003jtb.1_Nonsense_Mutation_p.R210*	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	210	HEAT 2.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)														---	---	---	---
RGNEF	64283	broad.mit.edu	37	5	73205327	73205327	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:73205327C>T	uc011csq.1	+	33	4263	c.4252C>T	c.(4252-4254)CGA>TGA	p.R1418*	RGNEF_uc003kcx.2_Nonsense_Mutation_p.R1418*|RGNEF_uc010izf.2_Nonsense_Mutation_p.R1418*|RGNEF_uc011csr.1_Nonsense_Mutation_p.R1105*|RGNEF_uc003kcz.3_Nonsense_Mutation_p.R382*|RGNEF_uc003kda.3_Nonsense_Mutation_p.R338*	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	1418					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)														---	---	---	---
ERAP2	64167	broad.mit.edu	37	5	96219640	96219640	+	Intron	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96219640T>C	uc003kmq.2	+						uc003kmo.1_Intron|ERAP2_uc003kmt.2_Intron|ERAP2_uc003kmr.2_Intron|ERAP2_uc003kms.2_Intron|ERAP2_uc003kmu.2_Intron	NM_022350	NP_071745			endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)														---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115783169	115783169	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115783169C>A	uc010jck.2	-	19	2942	c.2233G>T	c.(2233-2235)GCA>TCA	p.A745S	SEMA6A_uc003krx.3_Missense_Mutation_p.A762S|SEMA6A_uc011cwe.1_Missense_Mutation_p.A124S|SEMA6A_uc003krv.3_Missense_Mutation_p.A172S|SEMA6A_uc003krw.3_Missense_Mutation_p.A222S|SEMA6A_uc010jcj.2_Missense_Mutation_p.A289S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	745	Cytoplasmic (Potential).				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)														---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131705664	131705664	+	5'UTR	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131705664C>T	uc003kww.3	+	1					SLC22A5_uc003kwx.3_5'UTR|uc003kwu.1_5'Flank	NM_003060	NP_003051			solute carrier family 22 member 5						positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity				0		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)											OREG0003451	type=REGULATORY REGION|Gene=BC043424|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
TGFBI	7045	broad.mit.edu	37	5	135382021	135382021	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135382021C>T	uc003lbf.3	+						TGFBI_uc003lbg.3_Intron|TGFBI_uc003lbh.3_Intron|TGFBI_uc011cyb.1_5'Flank	NM_000358	NP_000349			transforming growth factor, beta-induced, 68kDa						angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
CDC23	8697	broad.mit.edu	37	5	137533959	137533959	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137533959G>A	uc003lcl.2	-	9	972	c.941C>T	c.(940-942)TCG>TTG	p.S314L		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	314					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|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|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803660	137803660	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137803660G>A	uc003ldb.1	+	2	1792	c.1522G>A	c.(1522-1524)GCC>ACC	p.A508T	EGR1_uc011cyu.1_Silent_p.R164R	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	508					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140183010	140183010	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140183010G>A	uc003lhf.2	+	1	2228	c.2228G>A	c.(2227-2229)AGC>AAC	p.S743N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S743N	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	743	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229418	140229418	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140229418C>T	uc003lhu.2	+	1	2062	c.1338C>T	c.(1336-1338)GCC>GCT	p.A446A	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_Silent_p.A446A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	446	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)															---	---	---	---
PCDHB9	56127	broad.mit.edu	37	5	140568926	140568926	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140568926G>A	uc003liw.1	+	3	2035	c.2035G>A	c.(2035-2037)GCC>ACC	p.A679T		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	679	Extracellular (Potential).				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)															---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140755201	140755201	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140755201G>A	uc003ljy.1	+	1	1551	c.1551G>A	c.(1549-1551)CTG>CTA	p.L517L	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_uc011dau.1_Silent_p.L517L	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	517	Extracellular (Potential).|Cadherin 5.				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)															---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140810726	140810726	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140810726C>T	uc003lkt.1	+	1	569	c.400C>T	c.(400-402)CGT>TGT	p.R134C	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_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R134C	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	134	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141242708	141242708	+	3'UTR	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141242708C>A	uc003llq.2	-	3					PCDH1_uc003llp.2_Intron|PCDH1_uc011dbf.1_3'UTR	NM_002587	NP_002578			protocadherin 1 isoform 1 precursor						cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)														---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141242828	141242828	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141242828C>T	uc003llq.2	-	3	3185	c.3068G>A	c.(3067-3069)CGC>CAC	p.R1023H	PCDH1_uc003llp.2_Missense_Mutation_p.R1023H|PCDH1_uc011dbf.1_Missense_Mutation_p.R1001H	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	1023	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)														---	---	---	---
SPRY4	81848	broad.mit.edu	37	5	141693947	141693947	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141693947C>T	uc003lml.2	-	2	986	c.727G>A	c.(727-729)GTG>ATG	p.V243M	SPRY4_uc010jgi.1_Missense_Mutation_p.V266M	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	243	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											Testicular_Cancer_Familial_Clustering_of				---	---	---	---
POU4F3	5459	broad.mit.edu	37	5	145719802	145719802	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145719802G>A	uc003loa.2	+	2	901	c.812G>A	c.(811-813)GGC>GAC	p.G271D		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	271					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
GPR151	134391	broad.mit.edu	37	5	145895164	145895164	+	Silent	SNP	C	T	T	rs111754680		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145895164C>T	uc003lod.1	-	1	513	c.513G>A	c.(511-513)CCG>CCA	p.P171P		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	171	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969561	145969561	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145969561T>C	uc003loe.2	-	9	1806	c.1281A>G	c.(1279-1281)ATA>ATG	p.I427M	PPP2R2B_uc010jgm.2_Missense_Mutation_p.I416M|PPP2R2B_uc003log.3_Missense_Mutation_p.I427M|PPP2R2B_uc003lof.3_Missense_Mutation_p.I427M|PPP2R2B_uc003loi.3_Missense_Mutation_p.I430M|PPP2R2B_uc003loh.3_Missense_Mutation_p.I427M|PPP2R2B_uc003loj.3_Missense_Mutation_p.I407M|PPP2R2B_uc003lok.3_Missense_Mutation_p.I416M|PPP2R2B_uc011dbu.1_Missense_Mutation_p.I433M|PPP2R2B_uc011dbv.1_Missense_Mutation_p.I485M	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	427	WD 7.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969731	145969731	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145969731G>A	uc003loe.2	-	9	1636	c.1111C>T	c.(1111-1113)CGT>TGT	p.R371C	PPP2R2B_uc010jgm.2_Missense_Mutation_p.R360C|PPP2R2B_uc003log.3_Missense_Mutation_p.R371C|PPP2R2B_uc003lof.3_Missense_Mutation_p.R371C|PPP2R2B_uc003loi.3_Missense_Mutation_p.R374C|PPP2R2B_uc003loh.3_Missense_Mutation_p.R371C|PPP2R2B_uc003loj.3_Missense_Mutation_p.R351C|PPP2R2B_uc003lok.3_Missense_Mutation_p.R360C|PPP2R2B_uc011dbu.1_Missense_Mutation_p.R377C|PPP2R2B_uc011dbv.1_Missense_Mutation_p.R429C	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	371	WD 6.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147488329	147488329	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147488329G>A	uc003lox.2	+	18	1694	c.1621G>A	c.(1621-1623)GAA>AAA	p.E541K	SPINK5_uc010jgs.1_Missense_Mutation_p.E513K|SPINK5_uc010jgr.2_Missense_Mutation_p.E522K|SPINK5_uc003low.2_Missense_Mutation_p.E541K|SPINK5_uc003loy.2_Missense_Mutation_p.E541K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	541	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148680716	148680716	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148680716C>T	uc003lqh.2	+	4	381	c.250C>T	c.(250-252)CGG>TGG	p.R84W	AFAP1L1_uc003lqg.3_Missense_Mutation_p.R84W|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R84W	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	84				R -> Q (in Ref. 2; BAC04664).			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	149457719	149457719	+	Missense_Mutation	SNP	C	T	T	rs149911279		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149457719C>T	uc003lrl.2	-	4	880	c.685G>A	c.(685-687)GTT>ATT	p.V229I	CSF1R_uc011dcd.1_Missense_Mutation_p.V81I|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.V229I|CSF1R_uc011dce.1_Missense_Mutation_p.V229I|CSF1R_uc011dcf.1_Missense_Mutation_p.V229I	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	229	Extracellular (Potential).|Ig-like C2-type 3.				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)													---	---	---	---
PDGFRB	5159	broad.mit.edu	37	5	149515386	149515386	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149515386G>T	uc003lro.2	-	3	565	c.96C>A	c.(94-96)GGC>GGA	p.G32G	PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Silent_p.G32G	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	32					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150028591	150028591	+	Missense_Mutation	SNP	A	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150028591A>C	uc003lsn.2	+	3	1860	c.1486A>C	c.(1486-1488)AGC>CGC	p.S496R	SYNPO_uc003lso.3_Missense_Mutation_p.S252R|SYNPO_uc003lsp.2_Missense_Mutation_p.S252R	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	496					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153078575	153078575	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153078575G>A	uc003lva.3	+	10	1759	c.1394G>A	c.(1393-1395)GGA>GAA	p.G465E	GRIA1_uc003luy.3_Missense_Mutation_p.G465E|GRIA1_uc003luz.3_Missense_Mutation_p.G370E|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G385E|GRIA1_uc011dcx.1_Missense_Mutation_p.G396E|GRIA1_uc011dcy.1_Missense_Mutation_p.G475E|GRIA1_uc011dcz.1_Missense_Mutation_p.G475E|GRIA1_uc010jia.1_Missense_Mutation_p.G445E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	465	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154394333	154394333	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154394333G>A	uc010jih.1	+	1	1074	c.914G>A	c.(913-915)AGC>AAC	p.S305N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	305	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
ADRA1B	147	broad.mit.edu	37	5	159344355	159344355	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159344355G>A	uc003lxt.1	+	1	616	c.443G>A	c.(442-444)CGC>CAC	p.R148H		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	148	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)													---	---	---	---
C1QTNF2	114898	broad.mit.edu	37	5	159781820	159781820	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159781820C>T	uc003lyd.2	-	2	338	c.334G>A	c.(334-336)GGC>AGC	p.G112S		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	67	Collagen-like.					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)															---	---	---	---
NKX2-5	1482	broad.mit.edu	37	5	172660142	172660142	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172660142C>T	uc003mcm.1	-	2	581	c.405G>A	c.(403-405)GCG>GCA	p.A135A	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	135			A -> T (in ASD-AVCD; somatic mutation).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179291087	179291087	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179291087G>A	uc003mlh.2	-	22	3151	c.3114C>T	c.(3112-3114)TTC>TTT	p.F1038F	TBC1D9B_uc003mli.2_Silent_p.F1021F|TBC1D9B_uc003mlj.2_Silent_p.F1020F|TBC1D9B_uc003mlf.2_Silent_p.F112F|TBC1D9B_uc003mlg.2_Silent_p.F197F|TBC1D9B_uc011dgv.1_Silent_p.F197F	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1038						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
IRF4	3662	broad.mit.edu	37	6	401689	401689	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:401689C>T	uc003msz.3	+	7	1124	c.1011C>T	c.(1009-1011)GAC>GAT	p.D337D	IRF4_uc010jne.1_Silent_p.D337D|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.D336D|IRF4_uc003mtc.1_Silent_p.D167D	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	337					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)				T	IGH@	MM 								---	---	---	---
HUS1B	135458	broad.mit.edu	37	6	656756	656756	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:656756G>A	uc003mtg.2	-	1	209	c.189C>T	c.(187-189)TTC>TTT	p.F63F	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	63											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)														---	---	---	---
TDP2	51567	broad.mit.edu	37	6	24667067	24667067	+	Missense_Mutation	SNP	C	A	A	rs140404711	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24667067C>A	uc003nej.2	-	1	49	c.24G>T	c.(22-24)GAG>GAT	p.E8D	TDP2_uc003nei.2_5'Flank|TDP2_uc010jpu.1_Missense_Mutation_p.E8D|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	8					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2													Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---
HIST1H3E	8353	broad.mit.edu	37	6	26225781	26225781	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26225781G>A	uc003nhb.2	+	2	759	c.399G>A	c.(397-399)GGG>GGA	p.G133G	HIST1H3E_uc003nhc.3_Silent_p.G133G	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	133					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)														OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27835086	27835086	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27835086G>A	uc003njx.2	-	1	274	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	74	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3																		---	---	---	---
OR2W1	26692	broad.mit.edu	37	6	29012667	29012667	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29012667C>A	uc003nlw.2	-	1	286	c.286G>T	c.(286-288)GGT>TGT	p.G96C		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3																		---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29581117	29581117	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29581117C>T	uc003nmt.3	-	12	1805	c.1469G>A	c.(1468-1470)CGT>CAT	p.R490H	GABBR1_uc003nmp.3_Missense_Mutation_p.R373H|GABBR1_uc003nms.3_Missense_Mutation_p.R373H|GABBR1_uc003nmu.3_Missense_Mutation_p.R428H|GABBR1_uc011dlr.1_Missense_Mutation_p.R313H|GABBR1_uc011dls.1_Missense_Mutation_p.R490H	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	490	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)													---	---	---	---
ZFP57	346171	broad.mit.edu	37	6	29641302	29641302	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29641302C>A	uc011dlw.1	-	4	737	c.586G>T	c.(586-588)GTT>TTT	p.V196F	ZFP57_uc003nnl.3_Missense_Mutation_p.V176F	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	112	C2H2-type 1.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5																		---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31322883	31322883	+	Splice_Site	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31322883C>T	uc003nth.2	-	5	1066	c.1012_splice	c.e5+1	p.G338_splice	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Splice_Site|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Splice_Site_p.G217_splice|HLA-B_uc003nti.1_Intron	NM_005514	NP_005505			major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0														Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				---	---	---	---
TAP1	6890	broad.mit.edu	37	6	32815289	32815289	+	Splice_Site	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32815289C>T	uc003ocg.2	-	9	2238	c.2083_splice	c.e9+1	p.E695_splice	PSMB8_uc003ocf.2_5'Flank|TAP1_uc011dqi.1_Splice_Site_p.E434_splice	NM_000593	NP_000584			transporter 1, ATP-binding cassette, sub-family						antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1																		---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33636318	33636318	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33636318G>A	uc011drk.1	+	17	2132	c.1913G>A	c.(1912-1914)TGT>TAT	p.C638Y		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	638	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																		---	---	---	---
PEX6	5190	broad.mit.edu	37	6	42936167	42936167	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42936167G>A	uc003otf.2	-	7	1642	c.1549C>T	c.(1549-1551)CGG>TGG	p.R517W	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	517					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)															---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43188260	43188260	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43188260C>T	uc003ouk.2	+	32	6421	c.6346C>T	c.(6346-6348)CCC>TCC	p.P2116S	CUL9_uc003oul.2_Missense_Mutation_p.P2088S|CUL9_uc010jyk.2_Missense_Mutation_p.P1268S|CUL9_uc003oun.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2116	RING-type 1.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
POLR1C	9533	broad.mit.edu	37	6	43488475	43488475	+	Nonsense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43488475C>A	uc003ovn.2	+	7	825	c.768C>A	c.(766-768)TGC>TGA	p.C256*	POLR1C_uc003ovo.1_Nonsense_Mutation_p.C256*	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	256					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)															---	---	---	---
SLC25A27	9481	broad.mit.edu	37	6	46620981	46620981	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46620981C>T	uc003oyh.2	+	1	303	c.52C>T	c.(52-54)CCC>TCC	p.P18S	CYP39A1_uc003oyf.1_5'Flank|CYP39A1_uc011dwa.1_5'Flank|CYP39A1_uc010jzd.1_5'Flank|SLC25A27_uc011dwb.1_Missense_Mutation_p.P18S|SLC25A27_uc003oyg.2_Missense_Mutation_p.P18S|SLC25A27_uc011dwc.1_5'UTR	NM_004277	NP_004268	O95847	UCP4_HUMAN	solute carrier family 25, member 27	18					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane					0			Lung(136;0.192)															---	---	---	---
DST	667	broad.mit.edu	37	6	56376133	56376133	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56376133C>A	uc003pdf.2	-	67	12313	c.12285G>T	c.(12283-12285)CAG>CAT	p.Q4095H	DST_uc003pcz.3_Missense_Mutation_p.Q3917H|DST_uc011dxj.1_Missense_Mutation_p.Q3946H|DST_uc011dxk.1_Missense_Mutation_p.Q3957H|DST_uc003pcy.3_Missense_Mutation_p.Q3591H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6003	Spectrin 11.				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)															---	---	---	---
OGFRL1	79627	broad.mit.edu	37	6	72006266	72006266	+	Splice_Site	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72006266T>C	uc003pfx.1	+	5	709	c.546_splice	c.e5+2	p.E182_splice		NM_024576	NP_078852			opioid growth factor receptor-like 1							membrane	receptor activity				0																		---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75847173	75847173	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75847173C>A	uc003phs.2	-	31	5540	c.5374G>T	c.(5374-5376)GGG>TGG	p.G1792W	COL12A1_uc003pht.2_Missense_Mutation_p.G628W	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1792	Fibronectin type-III 13.				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																		---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79707231	79707231	+	Missense_Mutation	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:79707231T>A	uc003pir.2	-	19	2327	c.2101A>T	c.(2101-2103)ATG>TTG	p.M701L	PHIP_uc011dyp.1_Missense_Mutation_p.M701L	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	701					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83829481	83829481	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83829481G>T	uc003pjs.1	+	9	1155	c.895G>T	c.(895-897)GGT>TGT	p.G299C	DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	299					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)														---	---	---	---
RARS2	57038	broad.mit.edu	37	6	88228428	88228428	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88228428G>A	uc003pme.2	-	16	1395	c.1335C>T	c.(1333-1335)TAC>TAT	p.Y445Y	RARS2_uc003pmb.2_Silent_p.Y270Y|RARS2_uc003pmc.2_Silent_p.Y270Y|RARS2_uc003pmd.2_Silent_p.Y82Y|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	445					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		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;0.0456)														---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110763701	110763701	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110763701A>G	uc003puf.2	-	4	996	c.929T>C	c.(928-930)ATC>ACC	p.I310T	SLC22A16_uc003pue.2_Missense_Mutation_p.I291T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	310					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)														---	---	---	---
RFPL4B	442247	broad.mit.edu	37	6	112670995	112670995	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112670995G>A	uc003pvx.1	+	3	397	c.85G>A	c.(85-87)GTG>ATG	p.V29M		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	29	RING-type.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)														---	---	---	---
HS3ST5	222537	broad.mit.edu	37	6	114378682	114378682	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:114378682C>T	uc003pwg.3	-	2	812	c.780G>A	c.(778-780)ACG>ACA	p.T260T	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.T260T	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	260	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127796510	127796510	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127796510G>T	uc003qbd.2	-	6	3526	c.2661C>A	c.(2659-2661)ACC>ACA	p.T887T	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	887						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	128298173	128298173	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128298173G>A	uc003qbk.2	-	26	4102	c.3735C>T	c.(3733-3735)ATC>ATT	p.I1245I	PTPRK_uc003qbj.2_Silent_p.I1246I|PTPRK_uc010kfc.2_Silent_p.I1252I|PTPRK_uc011ebu.1_Silent_p.I1268I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1245	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)														---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130535624	130535624	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130535624C>T	uc003qbv.2	-	5	453	c.127G>A	c.(127-129)GTT>ATT	p.V43I	SAMD3_uc003qbx.2_Missense_Mutation_p.V43I|SAMD3_uc003qbw.2_Missense_Mutation_p.V43I|SAMD3_uc010kfg.1_Missense_Mutation_p.V43I|SAMD3_uc003qby.2_Missense_Mutation_p.V43I|SAMD3_uc003qbz.1_Missense_Mutation_p.V2I	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	43	SAM.									ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131943072	131943072	+	Missense_Mutation	SNP	A	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131943072A>C	uc003qcs.1	-	6	618	c.444T>G	c.(442-444)ATT>ATG	p.I148M	MED23_uc003qcq.2_Missense_Mutation_p.I148M|MED23_uc003qct.1_Missense_Mutation_p.I148M|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	148					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)														---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133802626	133802626	+	Silent	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133802626C>A	uc003qec.3	+	12	1454	c.996C>A	c.(994-996)CCC>CCA	p.P332P	EYA4_uc011ecq.1_Silent_p.P278P|EYA4_uc011ecr.1_Silent_p.P284P|EYA4_uc003qed.3_Silent_p.P332P|EYA4_uc003qee.3_Silent_p.P309P|EYA4_uc011ecs.1_Silent_p.P338P|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	332					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)														---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136582536	136582536	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136582536C>T	uc003qgx.1	-	12	2877	c.2624G>A	c.(2623-2625)CGC>CAC	p.R875H	BCLAF1_uc011edb.1_Missense_Mutation_p.R154H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R702H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R824H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R873H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	875					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)														---	---	---	---
STXBP5	134957	broad.mit.edu	37	6	147684527	147684527	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:147684527G>T	uc003qlz.2	+	24	2763	c.2602G>T	c.(2602-2604)GGC>TGC	p.G868C	STXBP5_uc010khz.1_Missense_Mutation_p.G832C|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.G523C	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	868	WD 12.				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)														---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148852697	148852697	+	Silent	SNP	G	A	A	rs150728102		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148852697G>A	uc003qme.1	+	13	1939	c.1464G>A	c.(1462-1464)CCG>CCA	p.P488P	SASH1_uc011eeb.1_Silent_p.P249P|SASH1_uc003qmf.1_Intron	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	488							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)														---	---	---	---
ZBTB2	57621	broad.mit.edu	37	6	151686764	151686764	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151686764G>A	uc003qoh.2	-	3	1572	c.1437C>T	c.(1435-1437)GAC>GAT	p.D479D		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152683404	152683404	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152683404C>T	uc010kiw.2	-	64	10802	c.10200G>A	c.(10198-10200)CAG>CAA	p.Q3400Q	SYNE1_uc003qot.3_Silent_p.Q3407Q|SYNE1_uc003qou.3_Silent_p.Q3400Q|SYNE1_uc010kja.1_Silent_p.Q105Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3400	HAT 6.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158914604	158914604	+	Splice_Site	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158914604G>T	uc003qrf.2	+	10	2989	c.1632_splice	c.e10-1	p.R544_splice	TULP4_uc003qrg.2_Splice_Site_p.R544_splice	NM_020245	NP_064630			tubby like protein 4 isoform 1						intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158923693	158923693	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158923693C>T	uc003qrf.2	+	13	4355	c.2998C>T	c.(2998-3000)CAG>TAG	p.Q1000*	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1000					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---
SLC22A2	6582	broad.mit.edu	37	6	160679619	160679619	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160679619G>A	uc003qtf.2	-	1	341	c.171C>T	c.(169-171)GCC>GCT	p.A57A	SLC22A2_uc003qte.1_Silent_p.A57A|SLC22A2_uc003qth.1_Silent_p.A57A	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	57	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)														---	---	---	---
GPR146	115330	broad.mit.edu	37	7	1097822	1097822	+	Missense_Mutation	SNP	C	T	T	rs146511290		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1097822C>T	uc003sjw.2	+	2	747	c.671C>T	c.(670-672)ACG>ATG	p.T224M	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.T224M|GPR146_uc003sjy.1_Missense_Mutation_p.T224M	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	224	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1510498	1510498	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1510498G>A	uc003skn.2	-	47	6542	c.6441C>T	c.(6439-6441)TAC>TAT	p.Y2147Y	INTS1_uc003skm.1_Silent_p.Y284Y	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	2147					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4026921	4026921	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4026921A>G	uc003smx.2	+	14	2237	c.2098A>G	c.(2098-2100)ATT>GTT	p.I700V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	700	Fibronectin type-III 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
GLCCI1	113263	broad.mit.edu	37	7	8043595	8043595	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8043595C>A	uc003srk.2	+	2	1074	c.515C>A	c.(514-516)TCT>TAT	p.S172Y		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	172											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)														---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20445782	20445782	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20445782G>A	uc003suu.2	+	12	2716	c.2011G>A	c.(2011-2013)GAC>AAC	p.D671N	ITGB8_uc011jyh.1_Missense_Mutation_p.D536N	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	671	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3																		---	---	---	---
MIR1183	100302122	broad.mit.edu	37	7	21510690	21510690	+	RNA	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21510690C>T	hsa-mir-1183|MI0006276	+			c.15C>T			SP4_uc003sva.2_Intron|SP4_uc003svb.2_Intron																	0																		---	---	---	---
TRA2A	29896	broad.mit.edu	37	7	23556005	23556005	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23556005G>A	uc003swi.2	-	3	527	c.313C>T	c.(313-315)CGG>TGG	p.R105W	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R4W|TRA2A_uc011jzd.1_Missense_Mutation_p.R4W|TRA2A_uc010kuo.1_RNA	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	105	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135410	27135410	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27135410G>A	uc003sye.2	-	1	216	c.122C>T	c.(121-123)GCG>GTG	p.A41V	HOXA1_uc003syd.2_Missense_Mutation_p.A41V|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	41						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	---	---	---	---
CREB5	9586	broad.mit.edu	37	7	28858738	28858738	+	Nonsense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:28858738G>T	uc003szq.2	+	11	1759	c.1369G>T	c.(1369-1371)GAG>TAG	p.E457*	CREB5_uc003szo.2_Nonsense_Mutation_p.E424*|CREB5_uc003szr.2_Nonsense_Mutation_p.E450*|CREB5_uc003szs.2_Nonsense_Mutation_p.E318*	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	457					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2																		---	---	---	---
NPSR1	387129	broad.mit.edu	37	7	34851405	34851405	+	Silent	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:34851405C>A	uc003teg.1	+	4	536	c.408C>A	c.(406-408)ACC>ACA	p.T136T	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.T136T|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.T136T|NPSR1_uc010kww.1_Silent_p.T125T|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	136	Helical; Name=3; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)													---	---	---	---
STARD3NL	83930	broad.mit.edu	37	7	38256777	38256777	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38256777C>T	uc003tfr.2	+						STARD3NL_uc003tfs.2_Intron|STARD3NL_uc003tft.2_Intron	NM_032016	NP_114405			MLN64 N-terminal homolog							integral to membrane|late endosome membrane				ovary(1)	1																		---	---	---	---
AMPH	273	broad.mit.edu	37	7	38469442	38469442	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38469442C>T	uc003tgu.2	-	14	1251	c.1182G>A	c.(1180-1182)CCG>CCA	p.P394P	AMPH_uc003tgv.2_Silent_p.P394P|AMPH_uc003tgt.2_Silent_p.P147P|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	394					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5																		---	---	---	---
VPS41	27072	broad.mit.edu	37	7	38798010	38798010	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38798010C>T	uc003tgy.2	-	18	1520	c.1494G>A	c.(1492-1494)CGG>CGA	p.R498R	VPS41_uc003tgz.2_Silent_p.R473R|VPS41_uc010kxn.2_Silent_p.R409R	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	498					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4																		---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42003945	42003945	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42003945G>T	uc011kbh.1	-	15	4817	c.4726C>A	c.(4726-4728)CTT>ATT	p.L1576I	GLI3_uc011kbg.1_Missense_Mutation_p.L1517I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1576					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				---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42006185	42006185	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42006185C>T	uc011kbh.1	-	15	2577	c.2486G>A	c.(2485-2487)GGC>GAC	p.G829D	GLI3_uc011kbg.1_Missense_Mutation_p.G770D	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	829					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				---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42012081	42012081	+	Missense_Mutation	SNP	G	A	A	rs141220299		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42012081G>A	uc011kbh.1	-	13	2049	c.1958C>T	c.(1957-1959)CCG>CTG	p.P653L	GLI3_uc011kbg.1_Missense_Mutation_p.P594L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	653					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				---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43485109	43485109	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43485109G>A	uc003tid.1	+	11	2943	c.2338G>A	c.(2338-2340)GTG>ATG	p.V780M	HECW1_uc011kbi.1_Missense_Mutation_p.V780M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	780					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23																		---	---	---	---
PGAM2	5224	broad.mit.edu	37	7	44104780	44104780	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44104780G>A	uc003tjs.2	-	1	384	c.349C>T	c.(349-351)CGC>TGC	p.R117C		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	117					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0																		---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44715660	44715660	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44715660A>G	uc003tln.2	+	9	1227	c.1118A>G	c.(1117-1119)AAC>AGC	p.N373S	OGDH_uc003tlm.2_Missense_Mutation_p.N373S|OGDH_uc011kbx.1_Missense_Mutation_p.N369S|OGDH_uc011kby.1_Missense_Mutation_p.N223S|OGDH_uc003tlp.2_Missense_Mutation_p.N384S|OGDH_uc011kbz.1_Missense_Mutation_p.N168S|OGDH_uc003tlo.1_Missense_Mutation_p.N206S	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	373					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)													---	---	---	---
CCM2	83605	broad.mit.edu	37	7	45109526	45109526	+	Silent	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45109526C>A	uc003tmo.2	+	6	857	c.711C>A	c.(709-711)GCC>GCA	p.A237A	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.A179A|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Intron|CCM2_uc011kcb.1_Silent_p.A200A|CCM2_uc011kcc.1_3'UTR|CCM2_uc003tms.2_Silent_p.A258A	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	237	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0														Familial_Cerebral_Cavernous_Angioma				---	---	---	---
CCM2	83605	broad.mit.edu	37	7	45115560	45115560	+	Silent	SNP	G	A	A	rs147293659		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45115560G>A	uc003tmo.2	+	10	1385	c.1239G>A	c.(1237-1239)TCG>TCA	p.S413S	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.S355S|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Silent_p.S322S|CCM2_uc003tms.2_Silent_p.S434S	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	413					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0														Familial_Cerebral_Cavernous_Angioma				---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47851502	47851502	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47851502C>T	uc003tny.1	-	50	7494	c.7494G>A	c.(7492-7494)ACG>ACA	p.T2498T	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Silent_p.T225T	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2498	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47968829	47968829	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47968829C>T	uc003tny.1	-	7	1032	c.1032G>A	c.(1030-1032)GCG>GCA	p.A344A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	344	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55087030	55087030	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55087030G>A	uc003tqk.2	+	1	306	c.60G>A	c.(58-60)CCG>CCA	p.P20P	EGFR_uc003tqh.2_Silent_p.P20P|EGFR_uc003tqi.2_Silent_p.P20P|EGFR_uc003tqj.2_Silent_p.P20P|EGFR_uc010kzg.1_Silent_p.P20P	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	20					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			---	---	---	---
GBAS	2631	broad.mit.edu	37	7	56065092	56065092	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56065092G>A	uc003tre.1	+	9	754	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	GBAS_uc003trf.1_Missense_Mutation_p.R210Q	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	249						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
PSPH	5723	broad.mit.edu	37	7	56087422	56087422	+	Missense_Mutation	SNP	C	A	A	rs144281276	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56087422C>A	uc003trg.2	-	4	509	c.146G>T	c.(145-147)CGG>CTG	p.R49L	PSPH_uc003trh.2_Missense_Mutation_p.R49L|PSPH_uc003tri.2_Missense_Mutation_p.R49L|PSPH_uc003trj.2_Missense_Mutation_p.R78L	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	49					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)															---	---	---	---
SBDS	51119	broad.mit.edu	37	7	66453459	66453459	+	Nonsense_Mutation	SNP	G	A	A	rs113993998		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66453459G>A	uc003tvm.1	-	5	836	c.652C>T	c.(652-654)CGA>TGA	p.R218*		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	218					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1								Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70885960	70885960	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70885960C>T	uc003tvy.2	+	5	831	c.831C>T	c.(829-831)AAC>AAT	p.N277N	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	277	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)																---	---	---	---
POM121	9883	broad.mit.edu	37	7	72413459	72413459	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72413459A>G	uc003twk.2	+	11	2927	c.2927A>G	c.(2926-2928)GAG>GGG	p.E976G	POM121_uc003twj.2_Missense_Mutation_p.E711G|POM121_uc010lam.1_Missense_Mutation_p.E711G	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	976	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)																---	---	---	---
NSUN5	55695	broad.mit.edu	37	7	72717909	72717909	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72717909C>T	uc003txw.2	-	8	1095	c.1059G>A	c.(1057-1059)CGG>CGA	p.R353R	FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.R353R|NSUN5_uc003txx.2_Silent_p.R315R|NSUN5_uc011kev.1_Silent_p.R353R	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	NOL1/NOP2/Sun domain family, member 5 isoform 2	353							methyltransferase activity				0		Lung NSC(55;0.163)																---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73510958	73510958	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73510958T>C	uc003uaa.1	+	3	324	c.159T>C	c.(157-159)TGT>TGC	p.C53C	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.C19C|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	53	LIM zinc-binding 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)																---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73768325	73768325	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73768325C>T	uc003uam.2	+	4	1121	c.794C>T	c.(793-795)GCG>GTG	p.A265V	CLIP2_uc003uan.2_Missense_Mutation_p.A265V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	265	CAP-Gly 2.					microtubule associated complex				skin(3)	3																		---	---	---	---
NCF1	653361	broad.mit.edu	37	7	74191648	74191648	+	Silent	SNP	G	A	A	rs146173318	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:74191648G>A	uc003ubb.2	+	2	178	c.108G>A	c.(106-108)TCG>TCA	p.S36S	NCF1_uc010lbs.1_Silent_p.S36S|NCF1_uc011kfh.1_Silent_p.S36S	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	36	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			skin(1)	1																		---	---	---	---
PION	54103	broad.mit.edu	37	7	77010626	77010626	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77010626C>T	uc003ugf.2	-	8	651	c.572G>A	c.(571-573)AGA>AAA	p.R191K	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	191					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1																		---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77549656	77549656	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77549656C>T	uc003ugs.3	+	9	963	c.837C>T	c.(835-837)TCC>TCT	p.S279S	PHTF2_uc003ugo.3_Silent_p.S241S|PHTF2_uc003ugp.2_Silent_p.S241S|PHTF2_uc003ugq.3_Silent_p.S241S|PHTF2_uc010ldv.2_Silent_p.S241S|PHTF2_uc003ugr.3_Silent_p.S245S|PHTF2_uc003ugt.3_Silent_p.S245S|PHTF2_uc003ugu.3_Silent_p.S241S|PHTF2_uc003ugv.2_Silent_p.S104S|PHTF2_uc010ldw.1_Silent_p.S104S	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1																		---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87049339	87049339	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87049339A>G	uc003uiv.1	-	19	2445	c.2369T>C	c.(2368-2370)ATG>ACG	p.M790T	ABCB4_uc003uiw.1_Missense_Mutation_p.M790T|ABCB4_uc003uix.1_Missense_Mutation_p.M790T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	790	ABC transmembrane type-1 2.|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)																	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87778316	87778316	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87778316C>T	uc003ujn.2	+	18	1589	c.1510C>T	c.(1510-1512)CGA>TGA	p.R504*	ADAM22_uc003ujk.1_Nonsense_Mutation_p.R504*|ADAM22_uc003ujl.1_Nonsense_Mutation_p.R504*|ADAM22_uc003ujm.2_Nonsense_Mutation_p.R504*|ADAM22_uc003ujo.2_Nonsense_Mutation_p.R504*|ADAM22_uc003ujp.1_Nonsense_Mutation_p.R556*	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	504	Disintegrin.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91726403	91726403	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91726403G>A	uc003ulg.2	+	41	10355	c.10130G>A	c.(10129-10131)CGA>CAA	p.R3377Q	AKAP9_uc003ulf.2_Missense_Mutation_p.R3369Q|AKAP9_uc003uli.2_Missense_Mutation_p.R3000Q|AKAP9_uc003ulj.2_Missense_Mutation_p.R1147Q|AKAP9_uc003ull.2_Missense_Mutation_p.R273Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3381	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)					T	BRAF	papillary thyroid								---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92027653	92027653	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92027653C>T	uc003ulw.2	+	20	3036	c.2660C>T	c.(2659-2661)GCG>GTG	p.A887V	ANKIB1_uc010lew.1_Missense_Mutation_p.A156V	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	887							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)															---	---	---	---
PPP1R9A	55607	broad.mit.edu	37	7	94740584	94740584	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94740584A>G	uc003unp.2	+	3	1691	c.1409A>G	c.(1408-1410)TAC>TGC	p.Y470C	PPP1R9A_uc010lfj.2_Missense_Mutation_p.Y470C|PPP1R9A_uc011kif.1_Missense_Mutation_p.Y470C|PPP1R9A_uc003unq.2_Missense_Mutation_p.Y470C|PPP1R9A_uc011kig.1_Missense_Mutation_p.Y470C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	470	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)												HNSCC(28;0.073)			---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95665061	95665061	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95665061G>T	uc003uoc.3	+	13	1689	c.1412G>T	c.(1411-1413)GGA>GTA	p.G471V	DYNC1I1_uc003uod.3_Missense_Mutation_p.G454V|DYNC1I1_uc003uob.2_Missense_Mutation_p.G434V|DYNC1I1_uc003uoe.3_Missense_Mutation_p.G451V|DYNC1I1_uc010lfl.2_Missense_Mutation_p.G460V	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	471	WD 4.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)															---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96650072	96650072	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96650072C>T	uc003uon.2	-	3	1054	c.846G>A	c.(844-846)GCG>GCA	p.A282A		NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	282					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)																	---	---	---	---
ASNS	440	broad.mit.edu	37	7	97483924	97483924	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97483924A>G	uc003uot.3	-	10	1712	c.1206T>C	c.(1204-1206)GTT>GTC	p.V402V	ASNS_uc011kin.1_Silent_p.V319V|ASNS_uc003uou.3_Silent_p.V402V|ASNS_uc003uov.3_Silent_p.V402V|ASNS_uc011kio.1_Silent_p.V381V|ASNS_uc003uow.3_Silent_p.V381V|ASNS_uc003uox.3_Silent_p.V319V	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	402	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97822375	97822375	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97822375G>A	uc003upd.1	+	11	2891	c.2598G>A	c.(2596-2598)CCG>CCA	p.P866P		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	866					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)																	---	---	---	---
CYP3A7	1551	broad.mit.edu	37	7	99315208	99315208	+	Nonsense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99315208C>A	uc003uru.2	-	5	478	c.373G>T	c.(373-375)GAA>TAA	p.E125*	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	125					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)																	---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									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																		---	---	---	---
C7orf61	402573	broad.mit.edu	37	7	100054446	100054446	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100054446C>T	uc003uuz.1	-	3	796	c.550G>A	c.(550-552)GTC>ATC	p.V184I		NM_001004323	NP_001004323	Q8IZ16	CG061_HUMAN	hypothetical protein LOC402573	184											0																		---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100281639	100281639	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100281639G>A	uc003uwg.1	-							NM_022574	NP_072096			PERQ amino acid rich, with GYF domain 1											large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)																	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100404108	100404108	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100404108G>A	uc003uwn.1	-	14	2909	c.2418C>T	c.(2416-2418)TAC>TAT	p.Y806Y	EPHB4_uc003uwm.1_Silent_p.Y713Y|EPHB4_uc010lhj.1_Silent_p.Y806Y	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	806	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100483395	100483395	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100483395G>A	uc003uwy.2	+						SRRT_uc010lhl.1_Intron|SRRT_uc003uxa.2_Intron|SRRT_uc003uwz.2_Intron	NM_015908	NP_056992			arsenate resistance protein 2 isoform a						cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100680308	100680308	+	Missense_Mutation	SNP	A	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100680308A>C	uc003uxp.1	+	3	5664	c.5611A>C	c.(5611-5613)AGT>CGT	p.S1871R	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1871	Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100680331	100680331	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100680331A>G	uc003uxp.1	+	3	5687	c.5634A>G	c.(5632-5634)ACA>ACG	p.T1878T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1878	Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100686859	100686859	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100686859G>A	uc003uxp.1	+	3	12215	c.12162G>A	c.(12160-12162)CCG>CCA	p.P4054P	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4054	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
VGF	7425	broad.mit.edu	37	7	100806796	100806796	+	Missense_Mutation	SNP	G	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100806796G>C	uc003uxx.3	-	2	1547	c.1329C>G	c.(1327-1329)GAC>GAG	p.D443E		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	443	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)																	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106520077	106520077	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106520077T>C	uc003vdv.3	+	6	2590	c.2505T>C	c.(2503-2505)GGT>GGC	p.G835G	PIK3CG_uc003vdu.2_Silent_p.G835G|PIK3CG_uc003vdw.2_Silent_p.G835G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	835	PI3K/PI4K.				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																		---	---	---	---
BCAP29	55973	broad.mit.edu	37	7	107259061	107259061	+	3'UTR	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107259061G>T	uc003vej.2	+	8					BCAP29_uc011kly.1_3'UTR|BCAP29_uc011klz.1_Intron|BCAP29_uc011kma.1_3'UTR	NM_018844	NP_061332			B-cell receptor-associated protein BAP29 isoform						apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2																		---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110763232	110763232	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110763232G>T	uc003vft.3	+	4	1450	c.404G>T	c.(403-405)TGT>TTT	p.C135F	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.C135F|LRRN3_uc003vfs.3_Missense_Mutation_p.C135F	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	135	LRR 3.|Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764173	110764173	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110764173G>A	uc003vft.3	+	4	2391	c.1345G>A	c.(1345-1347)GAA>AAA	p.E449K	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.E449K|LRRN3_uc003vfs.3_Missense_Mutation_p.E449K	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	449	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---
IFRD1	3475	broad.mit.edu	37	7	112095822	112095822	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112095822C>T	uc003vgh.2	+	3	542	c.99C>T	c.(97-99)GGC>GGT	p.G33G	IFRD1_uc011kmn.1_5'UTR|IFRD1_uc003vgi.2_Silent_p.G33G|IFRD1_uc003vgj.2_Silent_p.G33G|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_5'UTR	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	33					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2																		---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117513419	117513419	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117513419C>A	uc003vjf.2	-	1	143	c.51G>T	c.(49-51)GAG>GAT	p.E17D		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	17										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)														---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122261693	122261693	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122261693G>T	uc010lkp.2	-	5	1109	c.946C>A	c.(946-948)CTA>ATA	p.L316I	CADPS2_uc003vkg.3_Missense_Mutation_p.L16I|CADPS2_uc010lkq.2_Missense_Mutation_p.L316I	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	316					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127235677	127235677	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127235677G>A	uc003vmd.1	+	2	680	c.461G>A	c.(460-462)CGC>CAC	p.R154H	FSCN3_uc003vmc.1_Missense_Mutation_p.R109H|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R20H|FSCN3_uc010llc.1_Missense_Mutation_p.R154H	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	154						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1																		---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128482756	128482756	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128482756C>T	uc003vnz.3	+						FLNC_uc003voa.3_Intron	NM_001458	NP_001449			gamma filamin isoform a						cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---
NRF1	4899	broad.mit.edu	37	7	129394886	129394886	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129394886C>T	uc003voz.2	+	11	1494	c.1377C>T	c.(1375-1377)TAC>TAT	p.Y459Y	NRF1_uc003vpa.2_Silent_p.Y478Y|NRF1_uc011kpa.1_Silent_p.Y298Y|NRF1_uc003vpb.2_Silent_p.Y459Y	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	459	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1																		---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131872350	131872350	+	Missense_Mutation	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131872350T>A	uc003vra.3	-	15	3102	c.2873A>T	c.(2872-2874)GAT>GTT	p.D958V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	958	IPT/TIG 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
PL-5283	647087	broad.mit.edu	37	7	135344993	135344993	+	5'Flank	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135344993T>C	uc003vsy.2	+						PL-5283_uc003vsz.3_5'Flank	NM_001130929	NP_001124401			PL-5283 protein												0																		---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603975	138603975	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138603975C>T	uc011kql.1	-	2	446	c.397G>A	c.(397-399)GCA>ACA	p.A133T	KIAA1549_uc003vuk.3_Missense_Mutation_p.A83T|KIAA1549_uc011kqj.1_Missense_Mutation_p.A133T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	133						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---
JHDM1D	80853	broad.mit.edu	37	7	139791777	139791777	+	Missense_Mutation	SNP	A	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139791777A>C	uc003vvm.2	-	19	2562	c.2558T>G	c.(2557-2559)CTT>CGT	p.L853R	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	853					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)																	---	---	---	---
SLC37A3	84255	broad.mit.edu	37	7	140051148	140051148	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140051148G>A	uc003vvo.2	-	9	973	c.807C>T	c.(805-807)ATC>ATT	p.I269I	SLC37A3_uc003vvp.2_Silent_p.I269I|SLC37A3_uc010lnh.2_Silent_p.I269I|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	269					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)																	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140269471	140269471	+	Missense_Mutation	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140269471T>G	uc010lnj.2	-	5	1659	c.1514A>C	c.(1513-1515)CAG>CCG	p.Q505P	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.Q505P|DENND2A_uc003vvw.2_Missense_Mutation_p.Q505P|DENND2A_uc003vvx.2_Missense_Mutation_p.Q505P	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	505										ovary(3)|breast(1)	4	Melanoma(164;0.00956)																	---	---	---	---
Unknown	0	broad.mit.edu	37	7	142231772	142231772	+	Intron	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142231772T>C	uc011krp.1	+						uc011krr.1_Intron|uc011krx.1_Intron|uc011ksa.1_Intron|uc003vyh.2_Missense_Mutation_p.N49D					Homo sapiens mRNA for T cell receptor beta variable 3, partial cds, clone: un 191.																														---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142566348	142566348	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142566348C>T	uc011kst.1	+	15	2924	c.2137C>T	c.(2137-2139)CAG>TAG	p.Q713*	EPHB6_uc011ksu.1_Nonsense_Mutation_p.Q713*|EPHB6_uc003wbs.2_Nonsense_Mutation_p.Q421*|EPHB6_uc003wbt.2_Nonsense_Mutation_p.Q187*|EPHB6_uc003wbu.2_Nonsense_Mutation_p.Q421*|EPHB6_uc003wbv.2_Nonsense_Mutation_p.Q97*	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	713	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)																	---	---	---	---
EPHA1	2041	broad.mit.edu	37	7	143097071	143097071	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143097071G>A	uc003wcz.2	-	4	595	c.508C>T	c.(508-510)CGC>TGC	p.R170C		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	170	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)																---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144364881	144364881	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144364881C>T	uc003weq.2	-						TPK1_uc003weo.2_Silent_p.P36P|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Intron|TPK1_uc003wes.2_Intron	NM_022445	NP_071890			thiamin pyrophosphokinase 1 isoform a						thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)													---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147600793	147600793	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:147600793C>T	uc003weu.1	+	14	2751	c.2235C>T	c.(2233-2235)TGC>TGT	p.C745C		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	745	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---
C7orf33	202865	broad.mit.edu	37	7	148311192	148311192	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148311192C>A	uc003wew.2	+	2	624	c.263C>A	c.(262-264)GCT>GAT	p.A88D		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	88										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)															---	---	---	---
CUL1	8454	broad.mit.edu	37	7	148456394	148456394	+	Splice_Site	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148456394A>G	uc010lpg.2	+	5	1010	c.484_splice	c.e5-2	p.L162_splice	CUL1_uc003wey.2_Splice_Site_p.L162_splice|CUL1_uc003wez.2_Splice_Site_p.L52_splice	NM_003592	NP_003583			cullin 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)															---	---	---	---
Unknown	0	broad.mit.edu	37	7	148978644	148978644	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148978644C>T	uc003wfr.3	+						uc011kuo.1_5'Flank					Homo sapiens cDNA FLJ36716 fis, clone UTERU2010651.																														---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149133926	149133926	+	Intron	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149133926G>T	uc003wfv.2	-							NM_015694	NP_056509			zinc finger protein 777						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149475959	149475959	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149475959A>G	uc010lpk.2	+	7	925	c.925A>G	c.(925-927)ATC>GTC	p.I309V	SSPO_uc010lpl.1_5'UTR	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	309	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149495203	149495203	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149495203G>A	uc010lpk.2	+	48	6951	c.6951G>A	c.(6949-6951)ACG>ACA	p.T2317T		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2317					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149508800	149508800	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149508800C>T	uc010lpk.2	+	68	9539	c.9539C>T	c.(9538-9540)GCG>GTG	p.A3180V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3180					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150711160	150711160	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150711160G>A	uc003wif.2	+	27	3811	c.3515G>A	c.(3514-3516)CGC>CAC	p.R1172H	NOS3_uc011kuy.1_Missense_Mutation_p.R966H|ATG9B_uc003wig.3_Intron|ATG9B_uc011kvc.1_Intron	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	1172					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)													---	---	---	---
ATG9B	285973	broad.mit.edu	37	7	150714284	150714284	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150714284G>A	uc011kvc.1	-	9	2204	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	710	Cytoplasmic (By similarity).				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)														---	---	---	---
WDR86	349136	broad.mit.edu	37	7	151093060	151093060	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151093060C>A	uc003wkb.2	-	3	977	c.528G>T	c.(526-528)AAG>AAT	p.K176N	WDR86_uc003wka.2_Missense_Mutation_p.K134N|WDR86_uc011kvk.1_Missense_Mutation_p.K176N|WDR86_uc003wkc.2_Missense_Mutation_p.K48N	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	176	WD 4.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
WDR86	349136	broad.mit.edu	37	7	151093289	151093289	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151093289G>A	uc003wkb.2	-						WDR86_uc003wka.2_Intron|WDR86_uc011kvk.1_Intron|WDR86_uc003wkc.2_Intron	NM_198285	NP_938026			WD repeat domain 86												0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151874750	151874750	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151874750C>T	uc003wla.2	-	38	8007	c.7788G>A	c.(7786-7788)CGG>CGA	p.R2596R	MLL3_uc003wkz.2_Silent_p.R1657R|MLL3_uc003wky.2_Silent_p.R105R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2596	Pro-rich.				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								---	---	---	---
Unknown	0	broad.mit.edu	37	7	152143501	152143501	+	IGR	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:152143501G>T								FABP5L3 (3403 upstream) : LOC100128822 (17708 downstream)																																			---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158483354	158483354	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158483354C>T	uc003wnv.1	-	5	588	c.443G>A	c.(442-444)TGT>TAT	p.C148Y	NCAPG2_uc010lqu.1_5'Flank|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.C148Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.C148Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	148					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)														---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8176151	8176151	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8176151T>C	uc003wsh.3	-	5	3734	c.3734A>G	c.(3733-3735)TAC>TGC	p.Y1245C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1245	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0																		---	---	---	---
SOX7	83595	broad.mit.edu	37	8	10583758	10583758	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10583758G>T	uc003wtf.2	-	2	736	c.657C>A	c.(655-657)TTC>TTA	p.F219L	SOX7_uc011kwz.1_Missense_Mutation_p.F271L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	219					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)														---	---	---	---
MIR1322	100302166	broad.mit.edu	37	8	10682888	10682888	+	RNA	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10682888C>T	hsa-mir-1322|MI0006653	-			c.66C>T			SOX7_uc011kwz.1_Intron|PINX1_uc003wth.2_Intron|PINX1_uc003wti.2_Intron																	0																OREG0018546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957554	12957554	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12957554G>T	uc003wwm.2	-	9	2736	c.2292C>A	c.(2290-2292)AGC>AGA	p.S764R	DLC1_uc003wwk.1_Missense_Mutation_p.S327R|DLC1_uc003wwl.1_Missense_Mutation_p.S361R|DLC1_uc011kxx.1_Missense_Mutation_p.S253R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	764					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
RHOBTB2	23221	broad.mit.edu	37	8	22864862	22864862	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22864862C>T	uc003xcq.2	+	5	1641	c.1104C>T	c.(1102-1104)GAC>GAT	p.D368D	RHOBTB2_uc003xcp.2_Silent_p.D390D|RHOBTB2_uc011kzp.1_Silent_p.D375D|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	368	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771698	24771698	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24771698C>T	uc003xed.3	+	1	425	c.392C>T	c.(391-393)GCG>GTG	p.A131V	NEFM_uc011lac.1_Missense_Mutation_p.A131V|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	131	Rod.|Coil 1A.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---
ELP3	55140	broad.mit.edu	37	8	27954825	27954825	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27954825G>A	uc003xgo.3	+	2	257	c.109G>A	c.(109-111)GAT>AAT	p.D37N	ELP3_uc003xgn.3_Missense_Mutation_p.D22N|ELP3_uc011laq.1_Intron|ELP3_uc011lar.1_5'UTR|ELP3_uc011las.1_Intron|ELP3_uc011lat.1_5'UTR	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	37					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)														---	---	---	---
GSR	2936	broad.mit.edu	37	8	30550568	30550568	+	Missense_Mutation	SNP	A	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30550568A>T	uc003xih.1	-	8	891	c.800T>A	c.(799-801)CTT>CAT	p.L267H		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	267					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)													---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30694424	30694424	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30694424G>A	uc003xil.2	-	3	8227	c.8227C>T	c.(8227-8229)CGG>TGG	p.R2743W		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
IDO2	169355	broad.mit.edu	37	8	39872905	39872905	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39872905T>C	uc010lwy.1	+	11	1289	c.1047T>C	c.(1045-1047)TGT>TGC	p.C349C	IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Silent_p.C90C|IDO2_uc003xnp.1_Silent_p.C90C	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1	336					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2																		---	---	---	---
MYST3	7994	broad.mit.edu	37	8	41800346	41800346	+	Missense_Mutation	SNP	C	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41800346C>G	uc010lxb.2	-	15	2945	c.2401G>C	c.(2401-2403)GAG>CAG	p.E801Q	MYST3_uc010lxc.2_Missense_Mutation_p.E801Q|MYST3_uc003xon.3_Missense_Mutation_p.E801Q|MYST3_uc010lxd.2_Missense_Mutation_p.E801Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	801	Poly-Glu.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				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)															---	---	---	---
SLC20A2	6575	broad.mit.edu	37	8	42287757	42287757	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42287757C>A	uc010lxl.2	-	9	2228	c.1534G>T	c.(1534-1536)GGT>TGT	p.G512C	SLC20A2_uc010lxm.2_Missense_Mutation_p.G512C|SLC20A2_uc003xpe.2_Missense_Mutation_p.G512C|SLC20A2_uc011lcu.1_Missense_Mutation_p.G314C	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	512	Extracellular (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48766746	48766746	+	Missense_Mutation	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48766746T>A	uc003xqi.2	-	52	6848	c.6791A>T	c.(6790-6792)GAT>GTT	p.D2264V	PRKDC_uc003xqj.2_Missense_Mutation_p.D2264V|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2264					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48801690	48801690	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48801690C>T	uc003xqi.2	-	34	4222	c.4165G>A	c.(4165-4167)GTC>ATC	p.V1389I	PRKDC_uc003xqj.2_Missense_Mutation_p.V1389I|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1389					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48849059	48849059	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48849059C>T	uc003xqi.2	-	12	1189	c.1132G>A	c.(1132-1134)GCA>ACA	p.A378T	PRKDC_uc003xqj.2_Missense_Mutation_p.A378T|PRKDC_uc011ldh.1_Missense_Mutation_p.A378T	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	378					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321691	52321691	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52321691C>T	uc003xqu.3	-	17	2594	c.2493G>A	c.(2491-2493)CCG>CCA	p.P831P	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	831					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---
MRPL15	29088	broad.mit.edu	37	8	55049965	55049965	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55049965G>T	uc003xsa.2	+	3	464	c.401G>T	c.(400-402)AGG>ATG	p.R134M		NM_014175	NP_054894	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15 precursor	134					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)															---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65493461	65493461	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:65493461G>A	uc003xvi.2	+	1	648	c.114G>A	c.(112-114)ACG>ACA	p.T38T	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68137212	68137212	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68137212C>A	uc003xxo.1	-	29	4524	c.4134G>T	c.(4132-4134)TGG>TGT	p.W1378C	ARFGEF1_uc003xxl.1_Missense_Mutation_p.W832C|ARFGEF1_uc003xxn.1_Missense_Mutation_p.W361C	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1378					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70585289	70585289	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70585289C>T	uc003xyl.2	-	10	3069	c.2362G>A	c.(2362-2364)GAC>AAC	p.D788N	SLCO5A1_uc010lzb.2_Missense_Mutation_p.D733N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	788	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)															---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71041044	71041044	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71041044C>T	uc003xyn.1	-	17	3658	c.3496G>A	c.(3496-3498)GCC>ACC	p.A1166T	NCOA2_uc011lfb.1_Missense_Mutation_p.A254T	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1166					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML								---	---	---	---
CRISPLD1	83690	broad.mit.edu	37	8	75928931	75928931	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:75928931C>T	uc003yan.2	+	7	1234	c.859C>T	c.(859-861)CAG>TAG	p.Q287*	CRISPLD1_uc011lfk.1_Nonsense_Mutation_p.Q99*|CRISPLD1_uc011lfl.1_Nonsense_Mutation_p.Q99*	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	287						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
SLC10A5	347051	broad.mit.edu	37	8	82605999	82605999	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82605999T>C	uc011lfs.1	-	1	1209	c.1209A>G	c.(1207-1209)GTA>GTG	p.V403V		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	403	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0																		---	---	---	---
INTS8	55656	broad.mit.edu	37	8	95848830	95848830	+	Missense_Mutation	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95848830T>A	uc003yhb.2	+	7	958	c.832T>A	c.(832-834)TTT>ATT	p.F278I	INTS8_uc003yha.1_Missense_Mutation_p.F278I|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.F105I	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	278	TPR 1.				snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)																	---	---	---	---
C8orf38	137682	broad.mit.edu	37	8	96047736	96047736	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:96047736A>G	uc003yhj.2	+	3	368	c.352A>G	c.(352-354)AAA>GAA	p.K118E	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Missense_Mutation_p.K26E|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Missense_Mutation_p.K66E|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Missense_Mutation_p.K26E	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	118					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)																	---	---	---	---
MTDH	92140	broad.mit.edu	37	8	98699693	98699693	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:98699693G>A	uc003yhz.2	+	4	933	c.605G>A	c.(604-606)CGA>CAA	p.R202Q		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	202	Cytoplasmic (Potential).|Interaction with RELA.				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)															---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168419	99168419	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99168419T>C	uc003yij.3	+	15	2299	c.2199T>C	c.(2197-2199)GGT>GGC	p.G733G	POP1_uc011lgv.1_Silent_p.G733G|POP1_uc003yik.2_Silent_p.G733G	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	733					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100871713	100871713	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100871713C>T	uc003yiv.2	+						VPS13B_uc003yiw.2_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)															---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103311747	103311747	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103311747G>A	uc003ykr.1	-	24	3168	c.3135C>T	c.(3133-3135)CCC>CCT	p.P1045P	UBR5_uc003yks.1_Silent_p.P1045P	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1045					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)															---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103359305	103359305	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103359305A>G	uc003ykr.1	-	6	435	c.402T>C	c.(400-402)TCT>TCC	p.S134S	UBR5_uc003yks.1_Silent_p.S134S	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	134				S -> P (in Ref. 2; AAF88143).	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)															---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105261792	105261792	+	Missense_Mutation	SNP	A	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105261792A>C	uc003yls.2	+	26	3962	c.3721A>C	c.(3721-3723)AAA>CAA	p.K1241Q	RIMS2_uc003ylp.2_Missense_Mutation_p.K1223Q|RIMS2_uc003ylw.2_Missense_Mutation_p.K1230Q|RIMS2_uc003ylq.2_Missense_Mutation_p.K1037Q|RIMS2_uc003ylr.2_Missense_Mutation_p.K1062Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1285	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---
TM7SF4	81501	broad.mit.edu	37	8	105361753	105361753	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105361753A>G	uc003ylx.1	+	2	1022	c.973A>G	c.(973-975)AGC>GGC	p.S325G		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	325					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)															---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105503494	105503494	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105503494C>A	uc003yma.2	-	7	2082	c.1987G>T	c.(1987-1989)GAT>TAT	p.D663Y	LRP12_uc003ymb.2_Missense_Mutation_p.D644Y|LRP12_uc003ylz.2_Missense_Mutation_p.D69Y	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	663	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110590244	110590244	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110590244C>T	uc003ynj.3	-	6	900	c.737G>A	c.(736-738)CGT>CAT	p.R246H	SYBU_uc003yni.3_Missense_Mutation_p.R243H|SYBU_uc003ynk.3_Missense_Mutation_p.R127H|SYBU_uc010mco.2_Missense_Mutation_p.R245H|SYBU_uc003ynl.3_Missense_Mutation_p.R245H|SYBU_uc010mcp.2_Missense_Mutation_p.R246H|SYBU_uc010mcq.2_Missense_Mutation_p.R246H|SYBU_uc003yno.3_Missense_Mutation_p.R127H|SYBU_uc010mcr.2_Missense_Mutation_p.R246H|SYBU_uc003ynm.3_Missense_Mutation_p.R245H|SYBU_uc003ynn.3_Missense_Mutation_p.R245H|SYBU_uc010mcs.2_Missense_Mutation_p.R127H|SYBU_uc010mct.2_Missense_Mutation_p.R246H|SYBU_uc010mcu.2_Missense_Mutation_p.R245H|SYBU_uc003ynp.3_Missense_Mutation_p.R178H|SYBU_uc010mcv.2_Missense_Mutation_p.R246H|SYBU_uc003ynh.3_Missense_Mutation_p.R40H|SYBU_uc011lhw.1_Missense_Mutation_p.R116H	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	246	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139606333	139606333	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139606333G>A	uc003yvd.2	-	63	4989	c.4542C>T	c.(4540-4542)GCC>GCT	p.A1514A	COL22A1_uc011ljo.1_Silent_p.A794A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1514	Pro-rich.|Gly-rich.|Collagen-like 15.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)												HNSCC(7;0.00092)			---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141262910	141262910	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141262910G>T	uc003yvj.2	-	16	2531	c.2397C>A	c.(2395-2397)TCC>TCA	p.S799S	TRAPPC9_uc003yvh.2_Silent_p.S897S|TRAPPC9_uc010mel.1_Silent_p.S220S|TRAPPC9_uc003yvi.1_Silent_p.S790S	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	799					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142178528	142178528	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142178528C>T	uc003yvy.2	+	13	2217	c.1939C>T	c.(1939-1941)CAC>TAC	p.H647Y	DENND3_uc010mep.2_Missense_Mutation_p.H608Y|DENND3_uc003yvz.1_Missense_Mutation_p.H331Y	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	647										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
GPIHBP1	338328	broad.mit.edu	37	8	144297001	144297001	+	Missense_Mutation	SNP	G	A	A	rs147455726		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144297001G>A	uc003yxu.1	+	3	370	c.295G>A	c.(295-297)GAG>AAG	p.E99K		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	99	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144618479	144618479	+	Silent	SNP	C	T	T	rs148273781		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144618479C>T	uc003yyd.2	-	3	1538	c.1509G>A	c.(1507-1509)ACG>ACA	p.T503T		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	503					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)															---	---	---	---
RECQL4	9401	broad.mit.edu	37	8	145737698	145737698	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145737698C>T	uc003zdj.2	-	19	3097	c.3065G>A	c.(3064-3066)CGT>CAT	p.R1022H		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	1022					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)					N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145770885	145770885	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145770885G>T	uc003zdt.1	-	7	2824	c.2269C>A	c.(2269-2271)CGG>AGG	p.R757R	ARHGAP39_uc011llk.1_Silent_p.R757R|ARHGAP39_uc003zds.1_Silent_p.R757R	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	757	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0																		---	---	---	---
KANK1	23189	broad.mit.edu	37	9	710794	710794	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:710794C>T	uc003zgl.1	+						KANK1_uc003zgm.2_Intron|KANK1_uc003zgn.1_Intron|KANK1_uc003zgo.1_Intron|KANK1_uc003zgp.1_Intron|KANK1_uc003zgq.2_Intron|KANK1_uc003zgr.1_Intron|KANK1_uc003zgs.1_Intron	NM_015158	NP_055973			KN motif and ankyrin repeat domains 1 isoform a						negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)														---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8499822	8499822	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8499822C>T	uc003zkk.2	-	24	2858	c.2147G>A	c.(2146-2148)CGC>CAC	p.R716H	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R716H|PTPRD_uc003zkm.2_Missense_Mutation_p.R703H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	716	Fibronectin type-III 5.|Extracellular (Potential).				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)			---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33463912	33463912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33463912G>A	uc003zsz.2	-	23	3012	c.2911C>T	c.(2911-2913)CAG>TAG	p.Q971*	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Nonsense_Mutation_p.Q25*|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Nonsense_Mutation_p.Q968*|NOL6_uc011lob.1_Nonsense_Mutation_p.Q919*|NOL6_uc003ztb.1_Nonsense_Mutation_p.Q971*	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	971					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)														---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33464952	33464952	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33464952G>A	uc003zsz.2	-	21	2805	c.2704C>T	c.(2704-2706)CGA>TGA	p.R902*	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'UTR|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Nonsense_Mutation_p.R899*|NOL6_uc011lob.1_Nonsense_Mutation_p.R850*|NOL6_uc003ztb.1_Nonsense_Mutation_p.R902*	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	902					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)														---	---	---	---
KIAA1161	57462	broad.mit.edu	37	9	34371859	34371859	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34371859G>A	uc003zue.3	-	3	1250	c.1083C>T	c.(1081-1083)GGC>GGT	p.G361G		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	361	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)														---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35713239	35713239	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35713239G>A	uc003zxt.2	-	26	3660	c.3306C>T	c.(3304-3306)ATC>ATT	p.I1102I		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1102					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35806228	35806228	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35806228C>T	uc003zyd.2	+	15	2370	c.2370C>T	c.(2368-2370)AAC>AAT	p.N790N	NPR2_uc010mlb.2_Silent_p.N766N	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	790	Cytoplasmic (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)													---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37746497	37746497	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37746497G>A	uc004aag.1	+	16	4512	c.4468G>A	c.(4468-4470)GTG>ATG	p.V1490M	FRMPD1_uc004aah.1_Missense_Mutation_p.V1490M	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1490						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)														---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40775010	40775010	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:40775010C>A	uc004abs.2	-	5	417	c.265G>T	c.(265-267)GGG>TGG	p.G89W	ZNF658_uc010mmm.1_Missense_Mutation_p.G89W|ZNF658_uc010mmn.1_Missense_Mutation_p.G89W	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)														---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74364956	74364956	+	Intron	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74364956T>A	uc011lsa.1	-						TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_Intron	NM_013390	NP_037522			transmembrane protein 2 isoform a							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)														---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79897181	79897181	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79897181A>G	uc004akr.2	+	29	3369	c.3109A>G	c.(3109-3111)AAA>GAA	p.K1037E	VPS13A_uc004akp.3_Missense_Mutation_p.K1037E|VPS13A_uc004akq.3_Missense_Mutation_p.K1037E|VPS13A_uc004aks.2_Missense_Mutation_p.K1037E	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1037					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
AUH	549	broad.mit.edu	37	9	93983209	93983209	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93983209G>A	uc004arf.3	-	7	756	c.721C>T	c.(721-723)CGA>TGA	p.R241*	AUH_uc004arg.3_Nonsense_Mutation_p.R212*	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	241					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0																		---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101829222	101829222	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101829222G>A	uc004azb.1	+	40	3916	c.3710G>A	c.(3709-3711)TGC>TAC	p.C1237Y		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1237	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)																---	---	---	---
FKTN	2218	broad.mit.edu	37	9	108397407	108397407	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108397407C>T	uc004bcr.2	+	11	1464	c.1248C>T	c.(1246-1248)CTC>CTT	p.L416L	FKTN_uc011lvx.1_Silent_p.L416L|FKTN_uc004bcs.2_Silent_p.L416L|FKTN_uc011lvy.1_3'UTR|FKTN_uc010mtm.2_Silent_p.L284L	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	416	Lumenal (Potential).				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3																		---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114303976	114303976	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114303976G>T	uc004bff.2	+	6	985	c.761G>T	c.(760-762)AGG>ATG	p.R254M	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	254					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1																		---	---	---	---
KIAA1958	158405	broad.mit.edu	37	9	115421888	115421888	+	Missense_Mutation	SNP	A	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115421888A>C	uc004bgf.1	+	4	1865	c.1690A>C	c.(1690-1692)AGC>CGC	p.S564R	KIAA1958_uc011lwx.1_Missense_Mutation_p.S592R	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	564										skin(1)	1																		---	---	---	---
ZNF618	114991	broad.mit.edu	37	9	116811701	116811701	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116811701C>T	uc004bid.2	+	15	2218	c.2119C>T	c.(2119-2121)CGC>TGC	p.R707C	ZNF618_uc004bic.2_Missense_Mutation_p.R614C|ZNF618_uc011lxi.1_Missense_Mutation_p.R674C|ZNF618_uc011lxj.1_Missense_Mutation_p.R675C|ZNF618_uc010mvb.2_Missense_Mutation_p.R297C	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126136078	126136078	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126136078C>T	uc004bnx.1	+	10	3360	c.3268C>T	c.(3268-3270)CGC>TGC	p.R1090C	CRB2_uc004bnw.1_Missense_Mutation_p.R1090C	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	1090	Extracellular (Potential).|EGF-like 12.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1																		---	---	---	---
RABEPK	10244	broad.mit.edu	37	9	127995981	127995981	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127995981A>G	uc004bpi.2	+	9	1014	c.841A>G	c.(841-843)ACC>GCC	p.T281A	RABEPK_uc004bpj.2_Missense_Mutation_p.T230A|RABEPK_uc004bpk.2_Missense_Mutation_p.T281A|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.T281A	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	281	Kelch 5.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1																		---	---	---	---
MAPKAP1	79109	broad.mit.edu	37	9	128322031	128322031	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128322031G>T	uc004bpv.2	-	6	1062	c.729C>A	c.(727-729)ACC>ACA	p.T243T	MAPKAP1_uc011lzt.1_Silent_p.T46T|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.T46T|MAPKAP1_uc011lzv.1_Intron|MAPKAP1_uc004bpw.2_Silent_p.T51T|MAPKAP1_uc004bpx.2_Silent_p.T51T|MAPKAP1_uc004bpy.2_Silent_p.T243T|MAPKAP1_uc004bpz.2_Silent_p.T243T|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.T46T|MAPKAP1_uc004bqa.2_Silent_p.T243T|MAPKAP1_uc010mxc.1_Silent_p.T115T	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	243					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4																		---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131036199	131036199	+	Missense_Mutation	SNP	T	C	C	rs142168936		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131036199T>C	uc011maw.1	-	2	150	c.137A>G	c.(136-138)AAG>AGG	p.K46R	GOLGA2_uc010mxw.2_Missense_Mutation_p.K34R|GOLGA2_uc004bul.1_5'UTR|C9orf119_uc010mxx.1_5'Flank|C9orf119_uc004bup.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	46	Poly-Lys.|Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1																		---	---	---	---
TBC1D13	54662	broad.mit.edu	37	9	131568256	131568256	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131568256A>G	uc010myj.2	+	10	1160	c.1037A>G	c.(1036-1038)AAC>AGC	p.N346S	TBC1D13_uc010myk.2_Missense_Mutation_p.N221S|TBC1D13_uc010myl.2_Missense_Mutation_p.N165S	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	346						intracellular	Rab GTPase activator activity				0																		---	---	---	---
GTF3C4	9329	broad.mit.edu	37	9	135553481	135553481	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135553481C>T	uc010mzv.2	+	2	733	c.475C>T	c.(475-477)CCA>TCA	p.P159S	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	159					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)														---	---	---	---
RPL7A	6130	broad.mit.edu	37	9	136217870	136217870	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136217870G>A	uc004cde.1	+	7	670	c.640G>A	c.(640-642)GCT>ACT	p.A214T	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_Missense_Mutation_p.A38T	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	214					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)														---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136324225	136324225	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136324225G>A	uc004cdv.3	+	29	4651	c.4207G>A	c.(4207-4209)GGC>AGC	p.G1403S	ADAMTS13_uc004cdp.3_3'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.G1347S|ADAMTS13_uc004cdu.1_Missense_Mutation_p.G1316S|ADAMTS13_uc004cdw.3_Missense_Mutation_p.G1347S|ADAMTS13_uc004cdx.3_Missense_Mutation_p.G1316S|ADAMTS13_uc004cdz.3_Missense_Mutation_p.G1073S|ADAMTS13_uc004ceb.3_Missense_Mutation_p.G199S|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1403	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				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	136677299	136677299	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136677299C>T	uc004ces.2	-	5	535	c.489G>A	c.(487-489)CCG>CCA	p.P163P	VAV2_uc004cer.2_Silent_p.P163P	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	163					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)														---	---	---	---
C9orf86	55684	broad.mit.edu	37	9	139726193	139726193	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139726193G>A	uc004cji.1	+	6	747	c.479G>A	c.(478-480)CGG>CAG	p.R160Q	C9orf86_uc004cjm.2_Missense_Mutation_p.R160Q|C9orf86_uc004cjh.2_Missense_Mutation_p.R160Q|C9orf86_uc004cjj.1_Missense_Mutation_p.R160Q|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.R160Q|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R45Q	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	160	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)														---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1279636	1279636	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1279636G>A	uc009xhq.2	-	6	1887	c.1513C>T	c.(1513-1515)CTG>TTG	p.L505L		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	505	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)														---	---	---	---
KLF6	1316	broad.mit.edu	37	10	3823983	3823983	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3823983G>A	uc001iha.2	-	2	793	c.526C>T	c.(526-528)CGC>TGC	p.R176C	KLF6_uc010qaj.1_Missense_Mutation_p.R176C|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Missense_Mutation_p.R176C|KLF6_uc001ihb.2_Missense_Mutation_p.R176C	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	176					B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)												OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NET1	10276	broad.mit.edu	37	10	5496975	5496975	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5496975A>G	uc001iia.2	+	10	1229	c.1091A>G	c.(1090-1092)TAT>TGT	p.Y364C	NET1_uc010qar.1_Missense_Mutation_p.Y183C|NET1_uc001iib.2_Missense_Mutation_p.Y310C|NET1_uc010qas.1_Missense_Mutation_p.Y183C	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	364					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																		---	---	---	---
DCLRE1C	64421	broad.mit.edu	37	10	14961737	14961737	+	Nonsense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:14961737C>A	uc001inn.2	-	13	1241	c.1156G>T	c.(1156-1158)GAG>TAG	p.E386*	DCLRE1C_uc010qbx.1_Missense_Mutation_p.G386W|DCLRE1C_uc001ink.2_Nonsense_Mutation_p.E39*|DCLRE1C_uc001inl.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc009xji.2_Nonsense_Mutation_p.E271*|DCLRE1C_uc001inm.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc001ino.2_Nonsense_Mutation_p.E271*|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc001inq.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc001inr.2_Nonsense_Mutation_p.E271*	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	386					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1													Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ					---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16967768	16967768	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16967768C>T	uc001ioo.2	-	42	6329	c.6277G>A	c.(6277-6279)GGT>AGT	p.G2093S		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2093	CUB 15.				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)													---	---	---	---
ARMC3	219681	broad.mit.edu	37	10	23287247	23287247	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:23287247G>A	uc001irm.3	+	11	1429	c.1346G>A	c.(1345-1347)CGT>CAT	p.R449H	ARMC3_uc010qcv.1_Missense_Mutation_p.R449H|ARMC3_uc010qcw.1_Missense_Mutation_p.R186H	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	449	ARM 11.						binding				0																		---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27403517	27403517	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27403517C>T	uc001iti.2	-	19	2293	c.2111G>A	c.(2110-2112)AGT>AAT	p.S704N	YME1L1_uc001itj.2_Missense_Mutation_p.S647N|YME1L1_uc010qdl.1_Missense_Mutation_p.S614N|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	704					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33200585	33200585	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:33200585G>A	uc001iws.3	-	13	1858	c.1722C>T	c.(1720-1722)TGC>TGT	p.C574C	ITGB1_uc001iwp.3_Silent_p.C574C|ITGB1_uc001iwq.3_Silent_p.C574C|ITGB1_uc001iwr.3_Silent_p.C574C|ITGB1_uc001iwt.3_Silent_p.C574C|ITGB1_uc001iwu.1_Silent_p.C574C	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	574	Extracellular (Potential).|III.|Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)																---	---	---	---
CSGALNACT2	55454	broad.mit.edu	37	10	43651044	43651044	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43651044A>G	uc001jan.2	+	2	782	c.447A>G	c.(445-447)GAA>GAG	p.E149E	CSGALNACT2_uc001jam.1_Silent_p.E149E	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	149	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1																		---	---	---	---
ANUBL1	93550	broad.mit.edu	37	10	46121925	46121925	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46121925A>G	uc001jcp.3	-	7	1588	c.1346T>C	c.(1345-1347)CTG>CCG	p.L449P	ANUBL1_uc001jcl.3_5'UTR|ANUBL1_uc001jcm.3_Missense_Mutation_p.L449P|ANUBL1_uc009xmu.2_Missense_Mutation_p.L375P|ANUBL1_uc001jcn.3_Missense_Mutation_p.L375P|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	449							zinc ion binding				0																		---	---	---	---
C10orf72	196740	broad.mit.edu	37	10	50227718	50227718	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50227718G>T	uc001jhf.2	-	8	969	c.940C>A	c.(940-942)CTC>ATC	p.L314I		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	314	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50740632	50740632	+	Missense_Mutation	SNP	C	T	T	rs116275562	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50740632C>T	uc001jhs.3	-	2	533	c.379G>A	c.(379-381)GTT>ATT	p.V127I	PGBD3_uc009xoe.2_Missense_Mutation_p.V127I|PGBD3_uc001jhu.2_Missense_Mutation_p.V127I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	127					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16													Direct_reversal_of_damage|NER					---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587205	55587205	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55587205G>A	uc001jju.1	-	32	4710	c.4315C>T	c.(4315-4317)CCG>TCG	p.P1439S	PCDH15_uc010qhq.1_Missense_Mutation_p.P1444S|PCDH15_uc010qhr.1_Missense_Mutation_p.P1439S|PCDH15_uc010qhs.1_Missense_Mutation_p.P1451S|PCDH15_uc010qht.1_Missense_Mutation_p.P1446S|PCDH15_uc010qhu.1_Missense_Mutation_p.P1439S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1436S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1399S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1368S|PCDH15_uc010qhy.1_Missense_Mutation_p.P1444S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1439S|PCDH15_uc010qia.1_Missense_Mutation_p.P1417S|PCDH15_uc010qib.1_Missense_Mutation_p.P1414S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1439	Poly-Pro.|Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63851103	63851103	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63851103C>T	uc001jlt.1	+	10	1907	c.1881C>T	c.(1879-1881)ACC>ACT	p.T627T		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	627					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)																	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68687773	68687773	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:68687773G>A	uc001jmz.1	+	2	1649	c.1099G>A	c.(1099-1101)GAG>AAG	p.E367K	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.E367K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	367	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73485183	73485183	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73485183G>T	uc001jrx.3	+	29	3862	c.3485G>T	c.(3484-3486)GGG>GTG	p.G1162V	CDH23_uc001jrz.2_Missense_Mutation_p.G778V|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Intron	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1162	Cadherin 11.|Extracellular (Potential).				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																		---	---	---	---
ANXA7	310	broad.mit.edu	37	10	75143062	75143062	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75143062G>A	uc001jtz.2	-	10	928	c.855C>T	c.(853-855)TGC>TGT	p.C285C	ANXA7_uc001jua.2_Silent_p.C263C|ANXA7_uc001jub.2_Silent_p.C223C|ANXA7_uc010qki.1_Silent_p.C173C|ANXA7_uc009xre.2_Silent_p.C192C|ANXA7_uc009xrf.1_Silent_p.C205C	NM_004034	NP_004025	P20073	ANXA7_HUMAN	annexin VII isoform 2	285	Annexin 2.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)																	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87487639	87487639	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:87487639G>A	uc001kdl.1	-	10	1607	c.1506C>T	c.(1504-1506)AAC>AAT	p.N502N	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.N73N	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	502	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)										Multiple Myeloma(13;0.14)			---	---	---	---
GPR120	338557	broad.mit.edu	37	10	95347049	95347049	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95347049C>T	uc010qnt.1	+	4	873	c.817C>T	c.(817-819)CAG>TAG	p.Q273*	GPR120_uc010qnu.1_Nonsense_Mutation_p.Q257*	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	273	Cytoplasmic (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)																---	---	---	---
PDE6C	5146	broad.mit.edu	37	10	95422382	95422382	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95422382T>C	uc001kiu.3	+	20	2487	c.2349T>C	c.(2347-2349)GTT>GTC	p.V783V		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	783					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)																---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95987095	95987095	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95987095G>A	uc001kjk.2	+	5	2476	c.1842G>A	c.(1840-1842)ACG>ACA	p.T614T	PLCE1_uc010qnx.1_Silent_p.T614T|PLCE1_uc001kjm.2_Silent_p.T306T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	614	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96535263	96535263	+	Missense_Mutation	SNP	C	T	T	rs142974781		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96535263C>T	uc010qnz.1	+	3	448	c.448C>T	c.(448-450)CGC>TGC	p.R150C	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.R128C	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	150					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)													---	---	---	---
ZDHHC16	84287	broad.mit.edu	37	10	99214564	99214564	+	Intron	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99214564T>A	uc001knj.2	+						ZDHHC16_uc001knp.2_Intron|ZDHHC16_uc001knk.2_Intron|ZDHHC16_uc001knl.2_Intron|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Intron|ZDHHC16_uc010qow.1_Intron|ZDHHC16_uc009xvq.2_Intron|ZDHHC16_uc001kno.2_Intron|ZDHHC16_uc009xvr.2_Intron	NM_198046	NP_932163			Abl-philin 2 isoform 1						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)														---	---	---	---
SEMA4G	57715	broad.mit.edu	37	10	102740106	102740106	+	Intron	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102740106T>A	uc010qpt.1	+						SEMA4G_uc001krv.2_Intron|SEMA4G_uc001krw.1_Intron|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	NM_017893	NP_060363			semaphorin 4G						cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)														---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102777873	102777873	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102777873C>T	uc001kso.1	-	9	1720	c.1505G>A	c.(1504-1506)CGC>CAC	p.R502H	PDZD7_uc001ksn.2_Missense_Mutation_p.R502H	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	502						cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)														---	---	---	---
NFKB2	4791	broad.mit.edu	37	10	104160928	104160928	+	Intron	SNP	C	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104160928C>G	uc001kvb.2	+						NFKB2_uc001kva.2_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								---	---	---	---
TMEM180	79847	broad.mit.edu	37	10	104235578	104235578	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104235578G>A	uc001kvt.2	+	10	1610	c.1391G>A	c.(1390-1392)CGC>CAC	p.R464H	TMEM180_uc010qql.1_Missense_Mutation_p.R193H|TMEM180_uc010qqm.1_Intron	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	464						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
ACTR1A	10121	broad.mit.edu	37	10	104248876	104248876	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104248876C>T	uc001kvv.2	-	3	241	c.133G>A	c.(133-135)GTT>ATT	p.V45I	ACTR1A_uc010qqn.1_Intron|ACTR1A_uc010qqo.1_5'UTR	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	45					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)														---	---	---	---
CALHM2	51063	broad.mit.edu	37	10	105209699	105209699	+	5'UTR	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105209699G>A	uc001kwz.2	-	2					CALHM2_uc001kxa.2_5'UTR|CALHM2_uc001kxc.2_5'UTR|CALHM2_uc001kxb.2_5'UTR|CALHM2_uc001kxd.1_5'UTR	NM_015916	NP_057000			calcium homeostasis modulator 2							integral to membrane				skin(1)	1																		---	---	---	---
C10orf118	55088	broad.mit.edu	37	10	115917403	115917403	+	Silent	SNP	G	A	A	rs146089301		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115917403G>A	uc001lbb.1	-	3	1321	c.669C>T	c.(667-669)TTC>TTT	p.F223F	C10orf118_uc001lbc.1_Silent_p.F223F|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	223	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)														---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116698094	116698094	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116698094G>A	uc001lcd.2	+	1	143	c.82G>A	c.(82-84)GTC>ATC	p.V28I	TRUB1_uc010qsl.1_Intron	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	28					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)														---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129900871	129900871	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129900871T>C	uc001lke.2	-	13	9428	c.9233A>G	c.(9232-9234)AAA>AGA	p.K3078R	MKI67_uc001lkf.2_Missense_Mutation_p.K2718R|MKI67_uc009yav.1_Missense_Mutation_p.K2653R|MKI67_uc009yaw.1_Missense_Mutation_p.K2228R	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3078					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129904162	129904162	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129904162C>T	uc001lke.2	-	13	6137	c.5942G>A	c.(5941-5943)TGC>TAC	p.C1981Y	MKI67_uc001lkf.2_Missense_Mutation_p.C1621Y|MKI67_uc009yav.1_Missense_Mutation_p.C1556Y|MKI67_uc009yaw.1_Missense_Mutation_p.C1131Y	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1981	16 X 122 AA approximate repeats.|9.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129907312	129907312	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129907312G>A	uc001lke.2	-	13	2987	c.2792C>T	c.(2791-2793)ACA>ATA	p.T931I	MKI67_uc001lkf.2_Missense_Mutation_p.T571I|MKI67_uc009yav.1_Missense_Mutation_p.T506I|MKI67_uc009yaw.1_Missense_Mutation_p.T81I	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	931					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
CYP2E1	1571	broad.mit.edu	37	10	135346185	135346185	+	Intron	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135346185T>C	uc001lnj.1	+						CYP2E1_uc001lnk.1_Intron|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Intron	NM_000773	NP_000764			cytochrome P450, family 2, subfamily E,						drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme 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|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				---	---	---	---
CYP2E1	1571	broad.mit.edu	37	10	135352460	135352460	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135352460C>T	uc001lnj.1	+	9	1507	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	CYP2E1_uc001lnk.1_Missense_Mutation_p.R355C|CYP2E1_uc009ybl.1_Missense_Mutation_p.R293C|CYP2E1_uc009ybm.1_Missense_Mutation_p.R146C|CYP2E1_uc001lnl.1_Intron	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	492					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme 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|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				---	---	---	---
IFITM5	387733	broad.mit.edu	37	11	299343	299343	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:299343A>G	uc001low.1	-	1	184	c.148T>C	c.(148-150)TGT>CGT	p.C50R		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	50	Helical; (Potential).				multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane					0		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---
CTSD	1509	broad.mit.edu	37	11	1780837	1780837	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1780837C>T	uc001luc.1	-	3	394	c.261G>A	c.(259-261)ACG>ACA	p.T87T	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	87					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)													---	---	---	---
OSBPL5	114879	broad.mit.edu	37	11	3122896	3122896	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3122896C>T	uc001lxk.2	-	13	1617	c.1459G>A	c.(1459-1461)GTC>ATC	p.V487I	OSBPL5_uc010qxq.1_Missense_Mutation_p.V398I|OSBPL5_uc009ydw.2_Missense_Mutation_p.V419I|OSBPL5_uc001lxl.2_Missense_Mutation_p.V419I|OSBPL5_uc009ydx.2_Missense_Mutation_p.V511I	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	487					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)														---	---	---	---
MRGPRE	116534	broad.mit.edu	37	11	3249856	3249856	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3249856G>A	uc001lxq.3	-	2	481	c.171C>T	c.(169-171)TTC>TTT	p.F57F		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	57	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
ART1	417	broad.mit.edu	37	11	3681308	3681308	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3681308C>T	uc001lye.1	+	3	660	c.559C>T	c.(559-561)CGG>TGG	p.R187W	ART1_uc009yeb.1_Missense_Mutation_p.R187W	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	187					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)													---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3697574	3697574	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3697574C>T	uc001lyh.2	-	33	5509	c.5218G>A	c.(5218-5220)GTG>ATG	p.V1740M	NUP98_uc001lyi.2_Missense_Mutation_p.V1666M|NUP98_uc001lyg.2_Missense_Mutation_p.V705M	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1757					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								---	---	---	---
OR51F2	119694	broad.mit.edu	37	11	4842865	4842865	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4842865G>T	uc010qyn.1	+	1	250	c.250G>T	c.(250-252)GAC>TAC	p.D84Y		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	84	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
APBB1	322	broad.mit.edu	37	11	6432180	6432180	+	Missense_Mutation	SNP	C	T	T	rs139345068		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6432180C>T	uc001mdb.1	-	2	498	c.398G>A	c.(397-399)CGA>CAA	p.R133Q	APBB1_uc001mdc.1_Missense_Mutation_p.R133Q|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	133					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)														---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7064936	7064936	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7064936T>C	uc001mfb.1	+	4	2002	c.1679T>C	c.(1678-1680)TTA>TCA	p.L560S		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	560					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)														---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8161631	8161631	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8161631C>A	uc001mgd.2	-	2	288	c.234G>T	c.(232-234)AAG>AAT	p.K78N	RIC3_uc001mgb.2_5'Flank|RIC3_uc001mgc.2_Missense_Mutation_p.K78N|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.K28N|RIC3_uc010rbm.1_Missense_Mutation_p.K78N|RIC3_uc009yfm.2_Missense_Mutation_p.K78N|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.3_Missense_Mutation_p.K78N	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	78	Lumenal (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)														---	---	---	---
IGSF22	283284	broad.mit.edu	37	11	18741263	18741263	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18741263C>A	uc009yht.2	-	7	886	c.696G>T	c.(694-696)GAG>GAT	p.E232D	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	232	Ig-like 2.									ovary(4)|large_intestine(2)|kidney(1)	7																		---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32955500	32955500	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32955500T>C	uc001mty.2	+	4	2576	c.2309T>C	c.(2308-2310)ATG>ACG	p.M770T	QSER1_uc001mtz.1_Missense_Mutation_p.M531T|QSER1_uc001mua.2_Missense_Mutation_p.M275T	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	770	Gln-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)																	---	---	---	---
PDHX	8050	broad.mit.edu	37	11	34982048	34982048	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34982048G>T	uc001mvt.2	+	5	1150	c.624G>T	c.(622-624)CGG>CGT	p.R208R	PDHX_uc010rep.1_Silent_p.R193R|PDHX_uc010req.1_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	208	Interaction with DLD.			R->A: Strongly decreased DLD binding.	pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)															---	---	---	---
ACCSL	390110	broad.mit.edu	37	11	44073203	44073203	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44073203G>A	uc001mxw.1	+	5	762	c.706G>A	c.(706-708)GTG>ATG	p.V236M	ACCSL_uc009ykr.2_Missense_Mutation_p.V55M	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	236							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5																		---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45671407	45671407	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45671407G>A	uc001mys.1	-	4	1738	c.1067C>T	c.(1066-1068)ACG>ATG	p.T356M		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	356	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)														---	---	---	---
AMBRA1	55626	broad.mit.edu	37	11	46439470	46439470	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46439470G>A	uc010rgu.1	-	15	3469	c.3109C>T	c.(3109-3111)CGA>TGA	p.R1037*	AMBRA1_uc010rgt.1_Nonsense_Mutation_p.R603*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.R1008*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.R947*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.R1040*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.R918*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.R977*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1037					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)														---	---	---	---
ZNF408	79797	broad.mit.edu	37	11	46726189	46726189	+	Missense_Mutation	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46726189T>A	uc001nde.1	+	5	1169	c.939T>A	c.(937-939)AGT>AGA	p.S313R	ZNF408_uc010rgw.1_Missense_Mutation_p.S305R	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0																		---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55035854	55035854	+	Intron	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55035854T>A	uc010rid.1	+							NM_024114	NP_077019			tripartite motif-containing 48							intracellular	zinc ion binding				0																		---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55035855	55035855	+	Intron	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55035855A>G	uc010rid.1	+							NM_024114	NP_077019			tripartite motif-containing 48							intracellular	zinc ion binding				0																		---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904812	55904812	+	Missense_Mutation	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55904812T>A	uc010riz.1	-	1	383	c.383A>T	c.(382-384)AAC>ATC	p.N128I		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)																	---	---	---	---
OR9I1	219954	broad.mit.edu	37	11	57885993	57885993	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57885993G>T	uc001nml.1	-	1	924	c.924C>A	c.(922-924)CTC>CTA	p.L308L	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)																---	---	---	---
PGA5	5222	broad.mit.edu	37	11	61017238	61017238	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61017238G>A	uc001nqz.2	+	7	901	c.871G>A	c.(871-873)GCC>ACC	p.A291T		NM_014224	NP_055039	P00790	PEPA_HUMAN	pepsinogen 5, group I precursor	291				A -> T (in Ref. 3; BAF84553).	digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			skin(1)	1																		---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61188053	61188053	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61188053C>T	uc001nrq.2	-						CPSF7_uc001nro.2_Intron|CPSF7_uc001nrp.2_Intron|CPSF7_uc001nrr.2_Intron|CPSF7_uc001nrs.1_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																		---	---	---	---
MTA2	9219	broad.mit.edu	37	11	62361349	62361349	+	Nonstop_Mutation	SNP	A	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62361349A>T	uc001ntq.1	-	18	2386	c.2005T>A	c.(2005-2007)TGA>AGA	p.*669R	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Nonstop_Mutation_p.*496R	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	669					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NXF1	10482	broad.mit.edu	37	11	62569485	62569485	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62569485C>T	uc001nvf.1	-	5	623	c.487G>A	c.(487-489)GTT>ATT	p.V163I	NXF1_uc001nvg.1_Missense_Mutation_p.V163I|NXF1_uc009yog.1_Missense_Mutation_p.V206I|NXF1_uc010rmh.1_Missense_Mutation_p.V26I	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	163	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3																		---	---	---	---
SF1	7536	broad.mit.edu	37	11	64534407	64534407	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64534407C>T	uc001obb.1	-	12	1924	c.1547G>A	c.(1546-1548)AGT>AAT	p.S516N	SF1_uc010rnm.1_Missense_Mutation_p.S208N|SF1_uc010rnn.1_Missense_Mutation_p.S490N|SF1_uc001oaz.1_Missense_Mutation_p.S641N|SF1_uc001oba.1_Missense_Mutation_p.S516N|SF1_uc001obc.1_Missense_Mutation_p.S516N|SF1_uc001obd.1_Silent_p.Q517Q|SF1_uc001obe.1_Silent_p.Q402Q|SF1_uc010rno.1_Missense_Mutation_p.S401N	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	516	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
CDC42BPG	55561	broad.mit.edu	37	11	64595039	64595039	+	Silent	SNP	G	A	A	rs71539697		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64595039G>A	uc001obs.3	-	32	4110	c.4110C>T	c.(4108-4110)ACC>ACT	p.T1370T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1370					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4																		---	---	---	---
CDC42BPG	55561	broad.mit.edu	37	11	64597712	64597712	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64597712C>T	uc001obs.3	-	29	3321	c.3321G>A	c.(3319-3321)GCG>GCA	p.A1107A		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1107	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4																		---	---	---	---
C11orf2	738	broad.mit.edu	37	11	64878804	64878804	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64878804G>A	uc001ocr.1	+	10	2134	c.2094G>A	c.(2092-2094)TCG>TCA	p.S698S	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Silent_p.S574S	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	698					lipid transport|protein transport	Golgi apparatus|integral to membrane					0																		---	---	---	---
POLA2	23649	broad.mit.edu	37	11	65046287	65046287	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65046287C>T	uc001odj.2	+	6	890	c.548C>T	c.(547-549)TCT>TTT	p.S183F	POLA2_uc009yqf.1_Missense_Mutation_p.S183F|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.2_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	183					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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)													---	---	---	---
CATSPER1	117144	broad.mit.edu	37	11	65792903	65792903	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65792903G>A	uc001ogt.2	-	1	1086	c.948C>T	c.(946-948)GGC>GGT	p.G316G		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	316	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2																		---	---	---	---
CCS	9973	broad.mit.edu	37	11	66367082	66367082	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66367082G>A	uc001oir.2	+	4	446	c.403G>A	c.(403-405)GGG>AGG	p.G135R	CCS_uc001ois.2_5'Flank	NM_005125	NP_005116	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	135	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding				0																		---	---	---	---
RBM4	5936	broad.mit.edu	37	11	66411375	66411375	+	Silent	SNP	A	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66411375A>T	uc009yrj.2	+	3	1355	c.867A>T	c.(865-867)GCA>GCT	p.A289A	RBM4_uc009yrk.2_Silent_p.A264A|RBM4_uc001oiw.1_Silent_p.A289A|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.A289A|RBM4_uc001oiz.1_Silent_p.A289A	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	289	Interaction with TNPO3.|Poly-Ala.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)														---	---	---	---
LRFN4	78999	broad.mit.edu	37	11	66627389	66627389	+	Missense_Mutation	SNP	C	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66627389C>G	uc001ojr.2	+	2	1971	c.1631C>G	c.(1630-1632)GCC>GGC	p.A544G	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	544	Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---
CABP2	51475	broad.mit.edu	37	11	67286645	67286645	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67286645C>T	uc001omc.1	-						CABP2_uc001omd.1_Intron|CABP2_uc001ome.1_Intron	NM_016366	NP_057450			calcium binding protein 2 isoform 1						signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1																		---	---	---	---
CABP2	51475	broad.mit.edu	37	11	67287641	67287641	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67287641C>T	uc001omc.1	-						CABP2_uc001omd.1_Intron|CABP2_uc001ome.1_Intron	NM_016366	NP_057450			calcium binding protein 2 isoform 1						signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1																		---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70338504	70338504	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70338504G>A	uc001oqc.2	-	18	2453	c.2375C>T	c.(2374-2376)CCG>CTG	p.P792L	SHANK2_uc010rqn.1_Missense_Mutation_p.P204L|SHANK2_uc001opz.2_Missense_Mutation_p.P197L|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.P194L|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_Missense_Mutation_p.P5L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	413					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)															---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71208564	71208564	+	Silent	SNP	C	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71208564C>G	uc001oqn.2	+	19	1926	c.1800C>G	c.(1798-1800)GTC>GTG	p.V600V	NADSYN1_uc001oqo.2_Silent_p.V340V|NADSYN1_uc001oqp.2_Silent_p.V229V	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	600	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
B3GNT6	192134	broad.mit.edu	37	11	76750655	76750655	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76750655C>T	uc001oxw.2	+	2	148	c.60C>T	c.(58-60)GGC>GGT	p.G20G		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	20	Helical; Signal-anchor for type II membrane protein; (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0																OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77388037	77388037	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77388037G>A	uc001oyn.2	-	13	3261	c.3141C>T	c.(3139-3141)GGC>GGT	p.G1047G	RSF1_uc001oym.2_Silent_p.G795G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1047					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)															---	---	---	---
PRCP	5547	broad.mit.edu	37	11	82549488	82549488	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82549488G>T	uc001ozs.2	-	8	1328	c.1215C>A	c.(1213-1215)TCC>TCA	p.S405S	PRCP_uc001ozr.2_Silent_p.S426S	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	405					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1																		---	---	---	---
C11orf82	220042	broad.mit.edu	37	11	82643360	82643360	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82643360G>A	uc001ozt.2	+	6	1224	c.980G>A	c.(979-981)AGC>AAC	p.S327N	C11orf82_uc010rsr.1_Missense_Mutation_p.S26N|C11orf82_uc010rss.1_Missense_Mutation_p.S26N|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	327					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2																		---	---	---	---
CHORDC1	26973	broad.mit.edu	37	11	89939416	89939416	+	Nonsense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89939416C>A	uc001pdg.2	-	7	927	c.517G>T	c.(517-519)GAA>TAA	p.E173*	CHORDC1_uc009yvz.2_Nonsense_Mutation_p.E154*	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain-containing	173	Interaction with HSP90AA1 and HSP90AB1 (By similarity).|CHORD 2.				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)																---	---	---	---
CEP57	9702	broad.mit.edu	37	11	95552045	95552045	+	Missense_Mutation	SNP	C	T	T	rs144903440		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95552045C>T	uc001pfp.1	+	6	897	c.676C>T	c.(676-678)CGC>TGC	p.R226C	CEP57_uc001pfo.1_Missense_Mutation_p.R226C|CEP57_uc010ruh.1_Missense_Mutation_p.R217C|CEP57_uc010rui.1_Missense_Mutation_p.R226C|CEP57_uc009ywn.1_Missense_Mutation_p.R74C|CEP57_uc001pfq.1_Missense_Mutation_p.R226C|CEP57_uc001pfr.1_Missense_Mutation_p.R74C	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	226	Potential.|centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												Mosaic_Variegated_Aneuploidy_Syndrome				---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108031933	108031933	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108031933G>A	uc001pjz.3	-	17	3982	c.3880C>T	c.(3880-3882)CGT>TGT	p.R1294C	NPAT_uc010rvv.1_Missense_Mutation_p.R350C	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	1294					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)														---	---	---	---
ATM	472	broad.mit.edu	37	11	108170454	108170454	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108170454C>T	uc001pkb.1	+	34	5404	c.5019C>T	c.(5017-5019)AGC>AGT	p.S1673S	ATM_uc009yxr.1_Silent_p.S1673S|ATM_uc001pke.1_Silent_p.S325S|ATM_uc001pkg.1_Silent_p.S30S	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1673					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			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)			---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113281585	113281585	+	Missense_Mutation	SNP	C	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113281585C>G	uc001pnz.2	-	7	1517	c.1196G>C	c.(1195-1197)TGT>TCT	p.C399S	DRD2_uc010rwv.1_Missense_Mutation_p.C398S|DRD2_uc001poa.3_Missense_Mutation_p.C399S|DRD2_uc001pob.3_Missense_Mutation_p.C370S	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	399	Extracellular (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)													---	---	---	---
FAM55A	120400	broad.mit.edu	37	11	114401164	114401164	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114401164G>A	uc001ppa.2	-	3	557	c.140C>T	c.(139-141)GCG>GTG	p.A47V	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.A189V	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	189						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)														---	---	---	---
UBE4A	9354	broad.mit.edu	37	11	118253491	118253491	+	Missense_Mutation	SNP	G	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118253491G>C	uc001psw.2	+	13	2326	c.2197G>C	c.(2197-2199)GGA>CGA	p.G733R	UBE4A_uc001psv.2_Missense_Mutation_p.G740R	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	733					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)														---	---	---	---
MLL	4297	broad.mit.edu	37	11	118374689	118374689	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118374689A>G	uc001pta.2	+	27	8096	c.8073A>G	c.(8071-8073)TCA>TCG	p.S2691S	MLL_uc001ptb.2_Silent_p.S2694S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2691					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)				T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118773197	118773197	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118773197G>A	uc001pug.2	-	6	2220	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	BCL9L_uc009zal.2_Nonsense_Mutation_p.R414*	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	419	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)														---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119063872	119063872	+	Missense_Mutation	SNP	C	T	T	rs148526857	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119063872C>T	uc010rze.1	-	5	426	c.338G>A	c.(337-339)CGG>CAG	p.R113Q		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	coiled-coil domain containing 153	113	Potential.										0																		---	---	---	---
TBCEL	219899	broad.mit.edu	37	11	120924331	120924331	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120924331G>A	uc009zay.2	+	4	423	c.345G>A	c.(343-345)TCG>TCA	p.S115S	TBCEL_uc001pxo.2_Silent_p.S115S|TBCEL_uc001pxp.2_Intron|TBCEL_uc001pxq.2_Intron	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	115	LRR 2.					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)														---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120976630	120976630	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120976630C>T	uc010rzo.1	+	2	155	c.155C>T	c.(154-156)GCC>GTC	p.A52V		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	52					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124253126	124253126	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124253126G>A	uc010sai.1	-	1	114	c.114C>T	c.(112-114)ACC>ACT	p.T38T	OR8B2_uc001qab.3_RNA	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)														---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124845056	124845056	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124845056A>G	uc001qbm.3	+	5	840	c.581A>G	c.(580-582)AAG>AGG	p.K194R		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	194						centrosome				ovary(1)|central_nervous_system(1)	2	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;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)														---	---	---	---
TIRAP	114609	broad.mit.edu	37	11	126162605	126162605	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126162605C>A	uc001qdm.1	+	5	753	c.301C>A	c.(301-303)CAG>AAG	p.Q101K	TIRAP_uc001qdl.1_Missense_Mutation_p.Q101K|TIRAP_uc009zcb.1_Missense_Mutation_p.Q101K|TIRAP_uc001qdn.1_Missense_Mutation_p.Q101K|TIRAP_uc001qdo.1_Missense_Mutation_p.Q101K	NM_001039661	NP_001034750	P58753	TIRAP_HUMAN	Toll-interleukin 1 receptor domain-containing	101	TIR.				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			ovary(1)	1	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)														---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128840436	128840436	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128840436C>T	uc009zcp.2	-	22	4630	c.4630G>A	c.(4630-4632)GCA>ACA	p.A1544T	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.A503T|ARHGAP32_uc001qez.2_Missense_Mutation_p.A1195T	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1544	Interaction with GAB2.				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	128856447	128856447	+	Missense_Mutation	SNP	A	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128856447A>T	uc009zcp.2	-	13	1373	c.1373T>A	c.(1372-1374)CTT>CAT	p.L458H	ARHGAP32_uc009zcq.1_Missense_Mutation_p.L418H|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.L109H|ARHGAP32_uc001qfb.2_Missense_Mutation_p.L243H	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	458	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																		---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129800918	129800918	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:129800918C>T	uc001qfm.2	-	11	1755	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H	PRDM10_uc001qfj.2_Missense_Mutation_p.R422H|PRDM10_uc001qfk.2_Missense_Mutation_p.R422H|PRDM10_uc001qfl.2_Missense_Mutation_p.R422H|PRDM10_uc010sbx.1_Missense_Mutation_p.R422H|PRDM10_uc001qfn.2_Missense_Mutation_p.R508H|PRDM10_uc009zct.1_Missense_Mutation_p.R540H	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)														---	---	---	---
B3GAT1	27087	broad.mit.edu	37	11	134257522	134257522	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134257522A>G	uc001qhq.2	-	3	293	c.32T>C	c.(31-33)GTC>GCC	p.V11A	B3GAT1_uc001qhr.2_Missense_Mutation_p.V11A|B3GAT1_uc010scv.1_Missense_Mutation_p.V24A	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	11	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.V11I(1)		ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)														---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	2024025	2024025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2024025G>A	uc001qjp.2	-	2	535	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Nonsense_Mutation_p.Q102*	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	102	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)														---	---	---	---
NRIP2	83714	broad.mit.edu	37	12	2943970	2943970	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2943970A>G	uc001qlc.2	-	1	252	c.180T>C	c.(178-180)GAT>GAC	p.D60D	NRIP2_uc010sed.1_Silent_p.D60D|uc009zdz.1_5'Flank	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	60					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.000818)															---	---	---	---
DYRK4	8798	broad.mit.edu	37	12	4722772	4722772	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4722772C>T	uc001qmx.2	+	13	1576	c.1416C>T	c.(1414-1416)CAC>CAT	p.H472H	DYRK4_uc001qmy.1_Silent_p.H471H|DYRK4_uc001qmz.1_Silent_p.H185H|DYRK4_uc001qna.1_Silent_p.H108H|DYRK4_uc010ser.1_Silent_p.H109H	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	472						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)															---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6686958	6686958	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6686958C>A	uc001qpo.2	-	37	5518	c.5354G>T	c.(5353-5355)AGG>ATG	p.R1785M	CHD4_uc001qpn.2_Missense_Mutation_p.R1778M|CHD4_uc001qpp.2_Missense_Mutation_p.R1810M|uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1785	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---
USP5	8078	broad.mit.edu	37	12	6968673	6968673	+	Silent	SNP	G	A	A	rs143750403	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6968673G>A	uc001qri.3	+	9	1157	c.1098G>A	c.(1096-1098)CCG>CCA	p.P366P	USP5_uc001qrh.3_Silent_p.P366P	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	366					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4																		---	---	---	---
A2M	2	broad.mit.edu	37	12	9251353	9251353	+	Splice_Site	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9251353C>A	uc001qvk.1	-	15	1815	c.1702_splice	c.e15-1	p.V568_splice	A2M_uc009zgk.1_Splice_Site_p.V418_splice	NM_000014	NP_000005			alpha-2-macroglobulin precursor						blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)													---	---	---	---
TAS2R13	50838	broad.mit.edu	37	12	11061808	11061808	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11061808G>A	uc001qzg.1	-	1	354	c.90C>T	c.(88-90)ATC>ATT	p.I30I	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	30	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|skin(1)	2																		---	---	---	---
BCL2L14	79370	broad.mit.edu	37	12	12247740	12247740	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12247740T>C	uc001rac.2	+	5	1022	c.821T>C	c.(820-822)CTT>CCT	p.L274P	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Missense_Mutation_p.L274P|BCL2L14_uc001rae.2_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	BCL2-like 14 isoform 1	274					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			skin(1)	1		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)														---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19522684	19522684	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19522684C>T	uc001reb.2	+	25	3400	c.3314C>T	c.(3313-3315)CCG>CTG	p.P1105L	PLEKHA5_uc001rea.2_Missense_Mutation_p.P1163L|PLEKHA5_uc009zin.2_Missense_Mutation_p.P863L|PLEKHA5_uc010sif.1_Missense_Mutation_p.P1094L|PLEKHA5_uc010sig.1_Missense_Mutation_p.P1087L|PLEKHA5_uc009zio.2_Missense_Mutation_p.P371L	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	1105							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)																	---	---	---	---
CMAS	55907	broad.mit.edu	37	12	22213859	22213859	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22213859A>G	uc001rfm.2	+	5	866	c.787A>G	c.(787-789)AGA>GGA	p.R263G	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	263					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
REP15	387849	broad.mit.edu	37	12	27850003	27850003	+	Nonsense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27850003G>T	uc001rig.1	+	1	576	c.508G>T	c.(508-510)GGA>TGA	p.G170*		NM_001029874	NP_001025045	Q6BDI9	REP15_HUMAN	RAB15 effector protein	170						early endosome membrane				ovary(1)	1	Lung SC(9;0.0873)																	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29462162	29462162	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29462162C>T	uc001ris.3	+	6	914	c.767C>T	c.(766-768)GCG>GTG	p.A256V	FAR2_uc001rit.2_Missense_Mutation_p.A256V|FAR2_uc009zjm.2_Missense_Mutation_p.A159V|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	256					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0																		---	---	---	---
PKP2	5318	broad.mit.edu	37	12	33031261	33031261	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:33031261G>A	uc001rlj.3	-	3	668	c.553C>T	c.(553-555)CGG>TGG	p.R185W	PKP2_uc001rlk.3_Missense_Mutation_p.R185W|PKP2_uc010skj.1_Missense_Mutation_p.R185W	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	185					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)																	---	---	---	---
FAM113B	91523	broad.mit.edu	37	12	47629304	47629304	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:47629304T>C	uc001rpn.2	+	4	1189	c.458T>C	c.(457-459)GTG>GCG	p.V153A	FAM113B_uc010slj.1_Missense_Mutation_p.V33A|FAM113B_uc001rpq.2_Missense_Mutation_p.V153A	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	153							hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)																	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48380149	48380149	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48380149G>A	uc001rqu.2	-	23	1678	c.1497C>T	c.(1495-1497)GGC>GGT	p.G499G	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.G430G	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	499	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)													---	---	---	---
H1FNT	341567	broad.mit.edu	37	12	48723477	48723477	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48723477G>A	uc001rrm.2	+	1	715	c.403G>A	c.(403-405)GCG>ACG	p.A135T		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	135	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1																		---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49723227	49723227	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49723227C>T	uc001rtx.3	+	11	1321	c.1154C>T	c.(1153-1155)GCC>GTC	p.A385V	TROAP_uc009zlh.2_Missense_Mutation_p.A385V|TROAP_uc001rty.2_Missense_Mutation_p.A93V	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	385					cell adhesion	cytoplasm				ovary(1)	1																		---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49938006	49938006	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49938006C>T	uc001ruh.1	+	7	1290	c.1030C>T	c.(1030-1032)CGC>TGC	p.R344C	KCNH3_uc010smj.1_Missense_Mutation_p.R284C	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	344	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0																		---	---	---	---
KRT84	3890	broad.mit.edu	37	12	52774246	52774246	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52774246G>A	uc001sah.1	-	7	1373	c.1325C>T	c.(1324-1326)GCG>GTG	p.A442V		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	442	Rod.|Coil 2.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)												OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ITGB7	3695	broad.mit.edu	37	12	53585371	53585371	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53585371C>T	uc009zmv.2	-	15	2437	c.2366G>A	c.(2365-2367)CGC>CAC	p.R789H	ITGB7_uc001scc.2_Missense_Mutation_p.R789H|ITGB7_uc010snz.1_RNA	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	789	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8																		---	---	---	---
OR10P1	121130	broad.mit.edu	37	12	56031570	56031570	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56031570A>G	uc010spq.1	+	1	895	c.895A>G	c.(895-897)AGG>GGG	p.R299G		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56088256	56088256	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56088256C>T	uc001shh.2	-	17	2560	c.2340G>A	c.(2338-2340)ACG>ACA	p.T780T	ITGA7_uc001shg.2_Silent_p.T776T|ITGA7_uc010sps.1_Silent_p.T683T|ITGA7_uc009znw.2_Silent_p.T23T|ITGA7_uc009znx.2_Silent_p.T657T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	820	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
ANKRD52	283373	broad.mit.edu	37	12	56639211	56639211	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56639211G>A	uc001skm.3	-	21	2444	c.2354C>T	c.(2353-2355)GCC>GTC	p.A785V		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	785							protein binding			ovary(2)	2																		---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56720627	56720627	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56720627C>T	uc001skx.2	-	7	1409	c.1036G>A	c.(1036-1038)GCC>ACC	p.A346T	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.A346T|PAN2_uc001sky.2_Missense_Mutation_p.A346T	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	346					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6																		---	---	---	---
CTDSP2	10106	broad.mit.edu	37	12	58240195	58240195	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58240195G>A	uc001sqm.2	-	1	553	c.24C>T	c.(22-24)ACC>ACT	p.T8T	CTDSP2_uc009zqf.2_5'Flank|CTDSP2_uc009zqg.2_Silent_p.T8T	NM_005730	NP_005721	O14595	CTDS2_HUMAN	nuclear LIM interactor-interacting factor 2	8					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			central_nervous_system(1)	1	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)																	---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63543831	63543831	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:63543831C>T	uc001sro.1	-	1	2760	c.786G>A	c.(784-786)GCG>GCA	p.A262A		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	262	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
GNS	2799	broad.mit.edu	37	12	65130789	65130789	+	Missense_Mutation	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65130789T>G	uc001ssg.3	-	9	1263	c.1093A>C	c.(1093-1095)AGC>CGC	p.S365R	GNS_uc001ssf.2_Missense_Mutation_p.S309R|GNS_uc010ssq.1_Missense_Mutation_p.S397R|GNS_uc010ssr.1_Missense_Mutation_p.S345R	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	365						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)														---	---	---	---
MDM1	56890	broad.mit.edu	37	12	68720804	68720804	+	Intron	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:68720804A>G	uc001stz.2	-						MDM1_uc010stc.1_Intron|MDM1_uc009zqv.1_Intron|MDM1_uc001sua.3_Intron|MDM1_uc010std.1_3'UTR	NM_017440	NP_059136			mouse Mdm1 nuclear protein homolog isoform 1							nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)														---	---	---	---
SPIC	121599	broad.mit.edu	37	12	101876581	101876581	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101876581G>A	uc001tid.2	+	5	381	c.222G>A	c.(220-222)GCG>GCA	p.A74A	SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Silent_p.A73A	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	74						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---
PAH	5053	broad.mit.edu	37	12	103271264	103271264	+	Silent	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:103271264T>G	uc001tjq.1	-	5	889	c.417A>C	c.(415-417)GGA>GGC	p.G139G	PAH_uc010swc.1_Silent_p.G139G	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	139					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)													---	---	---	---
FOXN4	121643	broad.mit.edu	37	12	109717585	109717585	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109717585G>A	uc001toe.3	-	10	1550	c.1445C>T	c.(1444-1446)ACG>ATG	p.T482M	FOXN4_uc009zvg.2_Missense_Mutation_p.T279M|FOXN4_uc001tof.3_Missense_Mutation_p.T302M	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	482					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			ovary(1)|lung(1)	2																		---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116404042	116404042	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116404042C>T	uc001tvw.2	-	29	6287	c.6232G>A	c.(6232-6234)GGT>AGT	p.G2078S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2078					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)														---	---	---	---
VSIG10	54621	broad.mit.edu	37	12	118517177	118517177	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118517177G>A	uc001tws.2	-	4	1233	c.899C>T	c.(898-900)TCG>TTG	p.S300L		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	300	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane					0																		---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119563203	119563203	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119563203G>A	uc001txa.1	+	7	825	c.533G>A	c.(532-534)CGA>CAA	p.R178Q		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	178	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2																		---	---	---	---
CCDC60	160777	broad.mit.edu	37	12	119958003	119958003	+	Intron	SNP	A	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119958003A>T	uc001txe.2	+						uc001txf.2_Intron	NM_178499	NP_848594			coiled-coil domain containing 60											ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)														---	---	---	---
CCDC60	160777	broad.mit.edu	37	12	119968783	119968783	+	Missense_Mutation	SNP	G	A	A	rs148262586	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119968783G>A	uc001txe.2	+	13	1931	c.1466G>A	c.(1465-1467)CGG>CAG	p.R489Q	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	489										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)														---	---	---	---
CIT	11113	broad.mit.edu	37	12	120135487	120135487	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120135487G>A	uc001txi.1	-	45	5786	c.5733C>T	c.(5731-5733)CAC>CAT	p.H1911H	CIT_uc001txh.1_Silent_p.H1430H|CIT_uc001txj.1_Silent_p.H1953H	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1911					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)														---	---	---	---
CIT	11113	broad.mit.edu	37	12	120172001	120172001	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120172001C>T	uc001txi.1	-	25	3245	c.3192G>A	c.(3190-3192)CTG>CTA	p.L1064L	CIT_uc001txh.1_Silent_p.L598L|CIT_uc001txj.1_Silent_p.L1106L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1064	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)														---	---	---	---
CCDC64	92558	broad.mit.edu	37	12	120518704	120518704	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120518704G>A	uc001txl.1	+	7	1347	c.1322G>A	c.(1321-1323)AGT>AAT	p.S441N	CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Missense_Mutation_p.S112N|CCDC64_uc010szf.1_Missense_Mutation_p.S138N	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	441	Potential.				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
OASL	8638	broad.mit.edu	37	12	121476748	121476748	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121476748G>A	uc001tzj.1	-	1	33	c.27C>T	c.(25-27)AGC>AGT	p.S9S	OASL_uc001tzk.1_Silent_p.S9S	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	9					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121891034	121891034	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121891034G>A	uc001uat.2	-	13	1952	c.1848C>T	c.(1846-1848)TGC>TGT	p.C616C	KDM2B_uc001uaq.2_Silent_p.C56C|KDM2B_uc010szy.1_Silent_p.C56C|KDM2B_uc001uar.2_Silent_p.C207C|KDM2B_uc001uas.2_Silent_p.C585C|KDM2B_uc001uau.2_Silent_p.C499C	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	616	CXXC-type.				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																		---	---	---	---
MORN3	283385	broad.mit.edu	37	12	122091114	122091114	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122091114G>A	uc001uax.2	-	4	686	c.515C>T	c.(514-516)GCG>GTG	p.A172V	MORN3_uc001uay.2_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	172	MORN 6.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)														---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123285827	123285827	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123285827G>T	uc001udc.2	+	9	1279	c.1134G>T	c.(1132-1134)GAG>GAT	p.E378D	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.E378D|CCDC62_uc001ude.2_Missense_Mutation_p.E139D	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	378						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)														---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103353	124103353	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124103353G>A	uc001ufi.2	+	12	1326	c.1302G>A	c.(1300-1302)AAG>AAA	p.K434K	DDX55_uc001ufh.2_Silent_p.K287K|DDX55_uc001ufk.2_Silent_p.K287K|DDX55_uc001ufl.2_Silent_p.K41K	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	434							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)												OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124298123	124298123	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124298123C>T	uc001uft.3	+	19	3228	c.3203C>T	c.(3202-3204)TCG>TTG	p.S1068L	DNAH10_uc010tav.1_Missense_Mutation_p.S610L|DNAH10_uc010taw.1_Missense_Mutation_p.S553L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1068	Stem (By similarity).				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)														---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130184678	130184678	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130184678G>A	uc009zyl.1	-	2	973	c.645C>T	c.(643-645)TCC>TCT	p.S215S		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	215	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)														---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130884240	130884240	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130884240C>T	uc001uil.2	-	18	3280	c.3116G>A	c.(3115-3117)CGC>CAC	p.R1039H		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	1039						cell junction|synapse		p.R1039H(1)		upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25264573	25264573	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25264573C>A	uc001upp.2	+	6	831	c.644C>A	c.(643-645)CCT>CAT	p.P215H	ATP12A_uc010aaa.2_Missense_Mutation_p.P215H	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	215	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)													---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26043271	26043271	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:26043271C>T	uc001uqk.2	+						ATP8A2_uc010tdi.1_Intron|ATP8A2_uc010tdj.1_Intron|ATP8A2_uc001uql.1_Intron	NM_016529	NP_057613			ATPase, aminophospholipid transporter-like,						ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)														---	---	---	---
USP12	219333	broad.mit.edu	37	13	27680090	27680090	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27680090G>A	uc001uqy.2	-							NM_182488	NP_872294			ubiquitin thiolesterase 12						protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)														---	---	---	---
KATNAL1	84056	broad.mit.edu	37	13	30782714	30782714	+	Missense_Mutation	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:30782714T>G	uc001uss.2	-	11	1537	c.1436A>C	c.(1435-1437)AAG>ACG	p.K479T	KATNAL1_uc001ust.2_Missense_Mutation_p.K479T	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	479						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)														---	---	---	---
NUFIP1	26747	broad.mit.edu	37	13	45533698	45533698	+	Missense_Mutation	SNP	C	A	A	rs142430693		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45533698C>A	uc001uzp.2	-	7	881	c.839G>T	c.(838-840)GGG>GTG	p.G280V		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	280					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding				0		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)														---	---	---	---
SPERT	220082	broad.mit.edu	37	13	46288456	46288456	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46288456C>T	uc001van.1	+	3	1376	c.1296C>T	c.(1294-1296)TAC>TAT	p.Y432Y	SPERT_uc001vao.2_Silent_p.Y396Y	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	432						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)														---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52515271	52515271	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52515271C>T	uc001vfw.2	-	16	3659	c.3502G>A	c.(3502-3504)GCT>ACT	p.A1168T	ATP7B_uc010adv.2_Missense_Mutation_p.A738T|ATP7B_uc001vfx.2_Missense_Mutation_p.A961T|ATP7B_uc001vfy.2_Missense_Mutation_p.A1057T|ATP7B_uc010tgt.1_Missense_Mutation_p.A1103T|ATP7B_uc010tgu.1_Missense_Mutation_p.A1120T|ATP7B_uc010tgv.1_Missense_Mutation_p.A1090T|ATP7B_uc001vfv.2_Missense_Mutation_p.A440T|ATP7B_uc010tgs.1_Missense_Mutation_p.A379T	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1168	Cytoplasmic (Potential).		A -> S (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53418722	53418722	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53418722C>T	uc001vhi.2	-	3	3389	c.3186G>A	c.(3184-3186)CCG>CCA	p.P1062P	PCDH8_uc001vhj.2_Silent_p.P965P	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	1062	Cytoplasmic (Potential).				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)														---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53419757	53419757	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53419757G>A	uc001vhi.2	-	2	2845	c.2642C>T	c.(2641-2643)GCC>GTC	p.A881V	PCDH8_uc001vhj.2_Missense_Mutation_p.A784V	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	881	Cytoplasmic (Potential).				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)														---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73335641	73335641	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73335641C>T	uc001vix.3	-	19	2904	c.2530G>A	c.(2530-2532)GGA>AGA	p.G844R	DIS3_uc001viy.3_Missense_Mutation_p.G814R|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	844					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)											Multiple Myeloma(4;0.011)			---	---	---	---
CLN5	1203	broad.mit.edu	37	13	77570161	77570161	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77570161C>T	uc001vkc.2	+	3	639	c.611C>T	c.(610-612)GCC>GTC	p.A204V		NM_006493	NP_006484	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	155					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)														---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98641394	98641394	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98641394G>T	uc001vnf.1	+	4	508	c.443G>T	c.(442-444)CGG>CTG	p.R148L	IPO5_uc001vne.2_Missense_Mutation_p.R166L|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.R88L	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	148					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																		---	---	---	---
ARGLU1	55082	broad.mit.edu	37	13	107211856	107211856	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:107211856C>T	uc001vqk.3	-	2	744	c.497G>A	c.(496-498)CGC>CAC	p.R166H	ARGLU1_uc010age.1_5'UTR	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	166	Glu-rich.										0	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)																	---	---	---	---
F7	2155	broad.mit.edu	37	13	113771897	113771897	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113771897G>A	uc001vsv.2	+	8	843	c.792G>A	c.(790-792)CTG>CTA	p.L264L	F7_uc001vsw.2_Silent_p.L242L|F7_uc010tjt.1_Silent_p.L195L	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	264	Peptidase S1.		L -> P (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	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)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)													---	---	---	---
PCID2	55795	broad.mit.edu	37	13	113832578	113832578	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113832578C>T	uc010tju.1	-	14	1215	c.1134G>A	c.(1132-1134)TCG>TCA	p.S378S	PCID2_uc001vtb.2_Silent_p.S211S|PCID2_uc010tjv.1_Silent_p.S378S|PCID2_uc010tjw.1_Silent_p.S378S|PCID2_uc001vte.2_Silent_p.S271S|PCID2_uc001vtd.2_Silent_p.S271S|PCID2_uc001vtf.2_Silent_p.S271S	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	378	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)															---	---	---	---
ADPRHL1	113622	broad.mit.edu	37	13	114107633	114107633	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114107633G>T	uc001vtq.1	-	1	207	c.120C>A	c.(118-120)TCC>TCA	p.S40S		NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	40					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				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;0.0195)|GBM - Glioblastoma multiforme(44;0.116)															---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20388906	20388906	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20388906C>T	uc010tkw.1	+	1	141	c.141C>T	c.(139-141)CTC>CTT	p.L47L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
FLJ10357	55701	broad.mit.edu	37	14	21549815	21549815	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21549815G>A	uc001vzp.2	+	14	2817	c.2788G>A	c.(2788-2790)GGC>AGC	p.G930S	FLJ10357_uc001vzo.1_Missense_Mutation_p.G9S|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.G216S	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	930					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)														---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21826587	21826587	+	Splice_Site	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21826587C>A	uc001wao.2	-	20	2641	c.2302_splice	c.e20-1	p.M768_splice	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123			chromatin-specific transcription elongation						DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)														---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21827659	21827659	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21827659T>C	uc001wao.2	-	19	2624	c.2285A>G	c.(2284-2286)GAC>GGC	p.D762G	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	762					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)														---	---	---	---
OXA1L	5018	broad.mit.edu	37	14	23236581	23236581	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23236581G>T	uc001wgn.2	+	2	368	c.368G>T	c.(367-369)AGC>ATC	p.S123I	OXA1L_uc010tnc.1_Missense_Mutation_p.S123I|OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.S123I|OXA1L_uc001wgp.2_Missense_Mutation_p.S47I|OXA1L_uc001wgq.2_5'UTR	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	63	Mitochondrial intermembrane (Potential).				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)	1	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)														---	---	---	---
CDH24	64403	broad.mit.edu	37	14	23518350	23518350	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23518350G>A	uc001wil.2	-	12	2106	c.1846C>T	c.(1846-1848)CGC>TGC	p.R616C	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.R578C	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	616	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)														---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23902765	23902765	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23902765G>A	uc001wjx.2	-	3	283	c.177C>T	c.(175-177)GTC>GTT	p.V59V		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	59	Myosin head-like.		V -> I (in CMH1).		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)														---	---	---	---
DCAF11	80344	broad.mit.edu	37	14	24588791	24588791	+	Missense_Mutation	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24588791T>G	uc001wlv.2	+	10	1152	c.872T>G	c.(871-873)GTC>GGC	p.V291G	DCAF11_uc001wlw.2_Missense_Mutation_p.V291G|DCAF11_uc001wlz.2_Missense_Mutation_p.V191G|DCAF11_uc001wly.2_Missense_Mutation_p.V247G|DCAF11_uc001wme.2_Missense_Mutation_p.V251G|DCAF11_uc010tny.1_Missense_Mutation_p.V158G|DCAF11_uc001wmd.2_Missense_Mutation_p.V291G|DCAF11_uc001wmc.2_Missense_Mutation_p.V191G|DCAF11_uc001wmb.3_Missense_Mutation_p.V265G|DCAF11_uc001wma.3_Missense_Mutation_p.V291G	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	291	WD 3.					CUL4 RING ubiquitin ligase complex	protein binding				0																		---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31598602	31598602	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31598602G>A	uc001wrc.1	-	25	4464	c.3975C>T	c.(3973-3975)GGC>GGT	p.G1325G	HECTD1_uc001wrb.1_5'Flank|HECTD1_uc001wrd.1_Intron	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1325	MIB/HERC2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)														---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36074915	36074915	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36074915G>A	uc001wti.2	-	35	5803	c.5412C>T	c.(5410-5412)TGC>TGT	p.C1804C	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Silent_p.C1804C|RALGAPA1_uc010tpv.1_Silent_p.C1817C|RALGAPA1_uc010tpw.1_Silent_p.C1851C	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1804	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4																		---	---	---	---
PRPF39	55015	broad.mit.edu	37	14	45578921	45578921	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45578921G>A	uc001wvz.3	+	8	1284	c.1114G>A	c.(1114-1116)GTT>ATT	p.V372I	PRPF39_uc001wvy.3_Missense_Mutation_p.V251I|PRPF39_uc010and.2_Missense_Mutation_p.V162I|PRPF39_uc001wwa.1_5'Flank|SNORD127_uc010ane.2_5'Flank	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	PRP39 pre-mRNA processing factor 39 homolog	372	HAT 6.				mRNA processing|RNA splicing	nucleus	binding			ovary(1)|breast(1)	2																		---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50586993	50586993	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50586993C>A	uc001wxs.3	-	22	3587	c.3489G>T	c.(3487-3489)AAG>AAT	p.K1163N	SOS2_uc010ans.2_Translation_Start_Site|SOS2_uc010tql.1_Missense_Mutation_p.K1130N	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1163					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)																	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53558636	53558636	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53558636T>C	uc001xai.2	-	4	1386	c.1156A>G	c.(1156-1158)ACC>GCC	p.T386A	DDHD1_uc001xaj.2_Missense_Mutation_p.T393A|DDHD1_uc001xah.2_Missense_Mutation_p.T386A|DDHD1_uc001xag.2_5'UTR	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	386					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)																	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66200014	66200014	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:66200014A>G	uc001xin.2	+	10	2522	c.1325A>G	c.(1324-1326)TAC>TGC	p.Y442C	FUT8_uc001xio.2_Missense_Mutation_p.Y442C|FUT8_uc010tsp.1_Missense_Mutation_p.Y279C|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Y442C|FUT8_uc001xiq.2_Missense_Mutation_p.Y313C|FUT8_uc001xis.2_Missense_Mutation_p.Y36C	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	442	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71445182	71445182	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71445182C>T	uc001xmo.2	+	6	2574	c.2128C>T	c.(2128-2130)CCT>TCT	p.P710S	PCNX_uc001xmn.3_Missense_Mutation_p.P710S|PCNX_uc010are.1_Missense_Mutation_p.P710S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	710						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	73973210	73973210	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73973210G>T	uc010tub.1	-	10	2269	c.1947C>A	c.(1945-1947)GCC>GCA	p.A649A	HEATR4_uc010tua.1_Silent_p.A602A	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)														---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81952630	81952630	+	Intron	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81952630T>C	uc010tvv.1	-							NM_005065	NP_005056			sel-1 suppressor of lin-12-like precursor						Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)														---	---	---	---
TDP1	55775	broad.mit.edu	37	14	90458337	90458337	+	Intron	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90458337T>C	uc001xxy.2	+						TDP1_uc010atm.2_Intron|TDP1_uc001xxz.2_Intron|TDP1_uc010atn.2_Intron|TDP1_uc001xya.2_Intron|TDP1_uc001xyb.2_Intron|TDP1_uc010ato.2_Intron|TDP1_uc001xyd.1_Intron	NM_018319	NP_060789			tyrosyl-DNA phosphodiesterase 1						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					---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99697673	99697673	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:99697673G>A	uc001yga.2	-						BCL11B_uc001ygb.2_Intron	NM_138576	NP_612808			B-cell CLL/lymphoma 11B isoform 1							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								---	---	---	---
DEGS2	123099	broad.mit.edu	37	14	100615695	100615695	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100615695G>T	uc001ygx.2	-	2	523	c.435C>A	c.(433-435)CCC>CCA	p.P145P		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	degenerative spermatocyte homolog 2, lipid	145					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity				0		Melanoma(154;0.212)																---	---	---	---
MIR1247	100302145	broad.mit.edu	37	14	102026711	102026711	+	RNA	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102026711C>T	hsa-mir-1247|MI0006382	-			c.49C>T			DIO3OS_uc001ykd.1_5'UTR|uc001yke.2_5'UTR|uc001ykf.2_5'UTR|uc001ykg.2_5'UTR|uc001ykh.3_RNA|DIO3_uc010txq.1_5'Flank																	0																		---	---	---	---
TNFAIP2	7127	broad.mit.edu	37	14	103598087	103598087	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103598087T>C	uc001ymm.1	+	7	1541	c.1410T>C	c.(1408-1410)CAT>CAC	p.H470H	TNFAIP2_uc010awo.1_Silent_p.H182H|TNFAIP2_uc010txz.1_Silent_p.H139H|TNFAIP2_uc010tya.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	470					angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)															---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105418426	105418426	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105418426T>C	uc010axc.1	-	7	3482	c.3362A>G	c.(3361-3363)GAT>GGT	p.D1121G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D1021G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1121						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106209306	106209306	+	RNA	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106209306C>T	uc010tyt.1	-	3625		c.58417G>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_5'UTR|uc001ysf.2_5'UTR|uc001ysg.1_RNA					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	22466198	22466198	+	5'Flank	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22466198T>C	uc001yui.1	-											Homo sapiens clone IgA5728-2 immunoglobulin A heavy chain mRNA, partial cds.																														---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28273032	28273032	+	Missense_Mutation	SNP	C	T	T	rs151118268		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28273032C>T	uc001zbh.3	-	4	610	c.500G>A	c.(499-501)CGT>CAT	p.R167H	OCA2_uc010ayv.2_Missense_Mutation_p.R167H	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	167	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)										Oculocutaneous_Albinism				---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28447385	28447385	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28447385G>T	uc001zbj.2	-	47	7597	c.7491C>A	c.(7489-7491)GCC>GCA	p.A2497A	HERC2_uc001zbk.1_Silent_p.A32A	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2497					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)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28538093	28538093	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28538093G>T	uc001zbj.2	-	4	369	c.263C>A	c.(262-264)CCT>CAT	p.P88H	HERC2_uc001zbl.1_Translation_Start_Site	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	88					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	29993817	29993817	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:29993817G>A	uc001zcr.2	-	28	5704	c.5229C>T	c.(5227-5229)GTC>GTT	p.V1743V	TJP1_uc010azl.2_Silent_p.V1751V|TJP1_uc001zcq.2_Silent_p.V1687V|TJP1_uc001zcs.2_Silent_p.V1663V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1743					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)														---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34628841	34628841	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34628841C>T	uc001zhw.2	-	1	205	c.41G>A	c.(40-42)CGG>CAG	p.R14Q	SLC12A6_uc001zhx.2_Missense_Mutation_p.R14Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Intron|SLC12A6_uc001zib.2_Missense_Mutation_p.R5Q|SLC12A6_uc001zic.2_Missense_Mutation_p.R14Q|SLC12A6_uc010bau.2_Missense_Mutation_p.R14Q|SLC12A6_uc001zid.2_Intron	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	14	Cytoplasmic (Potential).				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)													---	---	---	---
AQR	9716	broad.mit.edu	37	15	35198753	35198753	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35198753A>G	uc001ziv.2	-	18	2005	c.1824T>C	c.(1822-1824)ATT>ATC	p.I608I		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	608						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)														---	---	---	---
TYRO3	7301	broad.mit.edu	37	15	41863254	41863254	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41863254G>A	uc001zof.1	+	13	1822	c.1598G>A	c.(1597-1599)CGG>CAG	p.R533Q		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	533	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)														---	---	---	---
MGA	23269	broad.mit.edu	37	15	42057187	42057187	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42057187G>T	uc010ucy.1	+	23	8029	c.7848G>T	c.(7846-7848)GTG>GTT	p.V2616V	MGA_uc010ucz.1_Silent_p.V2407V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2577						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)														---	---	---	---
MGA	23269	broad.mit.edu	37	15	42059314	42059314	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42059314C>T	uc010ucy.1	+	24	9215	c.9034C>T	c.(9034-9036)CCT>TCT	p.P3012S	MGA_uc010ucz.1_Missense_Mutation_p.P2803S	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2973						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)														---	---	---	---
VPS39	23339	broad.mit.edu	37	15	42455911	42455911	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42455911C>T	uc001zpd.2	-	21	2226	c.2075G>A	c.(2074-2076)CGA>CAA	p.R692Q	VPS39_uc001zpc.2_Missense_Mutation_p.R681Q|VPS39_uc001zpb.2_Missense_Mutation_p.R27Q	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	692					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)														---	---	---	---
LCMT2	9836	broad.mit.edu	37	15	43621731	43621731	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43621731G>A	uc001zrg.2	-	1	1161	c.957C>T	c.(955-957)CAC>CAT	p.H319H	LCMT2_uc010udn.1_5'UTR|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	319					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-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;8.1e-07)	L-Leucine(DB00149)													---	---	---	---
ADAL	161823	broad.mit.edu	37	15	43628015	43628015	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43628015C>T	uc010udo.1	+	5	759	c.185C>T	c.(184-186)ACT>ATT	p.T62I	ADAL_uc001zrh.2_Missense_Mutation_p.T62I	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	adenosine deaminase-like isoform 1	62					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding				0		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)														---	---	---	---
CTDSPL2	51496	broad.mit.edu	37	15	44806839	44806839	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44806839G>A	uc001ztr.2	+	9	1429	c.1013G>A	c.(1012-1014)CGA>CAA	p.R338Q	CTDSPL2_uc001zts.2_Missense_Mutation_p.R338Q|CTDSPL2_uc001ztt.2_Missense_Mutation_p.R338Q|CTDSPL2_uc010bdv.2_Missense_Mutation_p.R266Q	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	338	FCP1 homology.						phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)														---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48512844	48512844	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48512844C>T	uc001zwn.3	+	3	650	c.434C>T	c.(433-435)ACC>ATC	p.T145I	SLC12A1_uc010uew.1_5'UTR|SLC12A1_uc010bem.2_Missense_Mutation_p.T145I|SLC12A1_uc010uex.1_Missense_Mutation_p.T145I|SLC12A1_uc001zwq.3_5'Flank	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	145	Cytoplasmic (Potential).				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)													---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48704804	48704804	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48704804G>A	uc001zwx.1	-	65	8516	c.8188C>T	c.(8188-8190)CGG>TGG	p.R2730W	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2730					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48782036	48782036	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48782036G>A	uc001zwx.1	-							NM_000138	NP_000129			fibrillin 1 precursor						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51857352	51857352	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51857352G>A	uc002abf.2	-	4	522	c.297C>T	c.(295-297)TGC>TGT	p.C99C	DMXL2_uc010ufy.1_Silent_p.C99C|DMXL2_uc010bfa.2_Silent_p.C99C	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	99						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54914546	54914546	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54914546T>C	uc002ack.2	+	29	6128	c.6128T>C	c.(6127-6129)GTG>GCG	p.V2043A	UNC13C_uc002acm.2_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2043					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)														---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62966048	62966048	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62966048G>A	uc002alb.3	+	7	811	c.811G>A	c.(811-813)GAA>AAA	p.E271K		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	271	FERM.				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																		---	---	---	---
KBTBD13	390594	broad.mit.edu	37	15	65369263	65369263	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65369263G>A	uc010uis.1	+	1	110	c.110G>A	c.(109-111)CGC>CAC	p.R37H	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	hypothetical protein LOC390594	37	BTB.					cytoplasm					0																		---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69335087	69335087	+	Missense_Mutation	SNP	G	A	A	rs140448769	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69335087G>A	uc002ars.1	+	10	1609	c.1589G>A	c.(1588-1590)CGT>CAT	p.R530H	NOX5_uc002arp.1_Missense_Mutation_p.R512H|NOX5_uc002arq.1_Missense_Mutation_p.R484H|NOX5_uc010bid.1_Missense_Mutation_p.R495H|NOX5_uc002arr.1_Missense_Mutation_p.R502H|NOX5_uc010bie.1_Missense_Mutation_p.R330H|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	530	FAD-binding FR-type.|Cytoplasmic (Potential).|C-terminal catalytic region.				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2																		---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72549754	72549754	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72549754C>T	uc002auc.2	-	12	1393	c.934G>A	c.(934-936)GTT>ATT	p.V312I	PARP6_uc002aua.2_Missense_Mutation_p.V157I|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.V312I	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	312							NAD+ ADP-ribosyltransferase activity				0																		---	---	---	---
TMEM202	338949	broad.mit.edu	37	15	72691037	72691037	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72691037G>A	uc002auq.2	+	2	125	c.125G>A	c.(124-126)TGC>TAC	p.C42Y	TMEM202_uc002aur.2_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	42						integral to membrane				central_nervous_system(1)|skin(1)	2																		---	---	---	---
GOLGA6B	55889	broad.mit.edu	37	15	72956844	72956844	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72956844C>T	uc010uks.1	+	13	1534	c.1493C>T	c.(1492-1494)CCG>CTG	p.P498L	uc002aux.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	498	Potential.										0																		---	---	---	---
ETFA	2108	broad.mit.edu	37	15	76585005	76585005	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:76585005T>C	uc002bbt.2	-	3	304	c.223A>G	c.(223-225)AAA>GAA	p.K75E	ETFA_uc010bkq.1_Missense_Mutation_p.K26E|ETFA_uc002bbu.1_Missense_Mutation_p.K75E	NM_000126	NP_000117	P13804	ETFA_HUMAN	electron transfer flavoprotein, alpha	75					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity				0																		---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79290430	79290430	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79290430G>A	uc002beq.2	-						RASGRF1_uc002bep.2_Intron|RASGRF1_uc010blm.1_Intron|RASGRF1_uc002ber.3_Intron|RASGRF1_uc010unh.1_Intron|RASGRF1_uc002beo.2_Intron	NM_002891	NP_002882			Ras protein-specific guanine						activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6																		---	---	---	---
MEX3B	84206	broad.mit.edu	37	15	82335957	82335957	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82335957C>T	uc002bgq.1	-	2	1569	c.1254G>A	c.(1252-1254)GCG>GCA	p.A418A		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	418					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2																		---	---	---	---
KLHL25	64410	broad.mit.edu	37	15	86311599	86311599	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86311599A>G	uc002bly.2	-	2	1646	c.1443T>C	c.(1441-1443)CCT>CCC	p.P481P		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	481	Kelch 4.					cytoplasm				ovary(2)	2																		---	---	---	---
POLG	5428	broad.mit.edu	37	15	89872190	89872190	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89872190G>A	uc002bns.3	-	4	1289	c.1007C>T	c.(1006-1008)GCC>GTC	p.A336V	POLG_uc002bnr.3_Missense_Mutation_p.A336V	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	336					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)										DNA_polymerases_(catalytic_subunits)					---	---	---	---
C15orf42	90381	broad.mit.edu	37	15	90164625	90164625	+	Missense_Mutation	SNP	C	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90164625C>G	uc002boe.2	+	19	3156	c.3156C>G	c.(3154-3156)GAC>GAG	p.D1052E	C15orf42_uc010upv.1_5'Flank	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1052					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---
PRC1	9055	broad.mit.edu	37	15	91527282	91527282	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91527282G>A	uc002bqm.2	-	3	390	c.233C>T	c.(232-234)ACT>ATT	p.T78I	PRC1_uc002bqn.2_Missense_Mutation_p.T78I|PRC1_uc002bqo.2_Missense_Mutation_p.T78I|PRC1_uc010uqs.1_Intron|PRC1_uc010uqt.1_Missense_Mutation_p.T26I	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	78	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)																	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93552395	93552395	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93552395C>T	uc002bsp.2	+	35	5009	c.4434C>T	c.(4432-4434)CCC>CCT	p.P1478P	CHD2_uc002bso.1_Silent_p.P1478P	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1478					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	93588402	93588402	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93588402G>A	uc002bss.1	-	4	1451	c.1179C>T	c.(1177-1179)GCC>GCT	p.A393A	RGMA_uc002bsq.1_Silent_p.A377A|RGMA_uc010boi.1_Silent_p.A284A|RGMA_uc002bsr.1_Silent_p.A284A|RGMA_uc010urc.1_Silent_p.A401A	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	393					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)															---	---	---	---
RGMA	56963	broad.mit.edu	37	15	93588679	93588679	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93588679A>G	uc002bss.1	-	4	1174	c.902T>C	c.(901-903)GTC>GCC	p.V301A	RGMA_uc002bsq.1_Missense_Mutation_p.V285A|RGMA_uc010boi.1_Missense_Mutation_p.V192A|RGMA_uc002bsr.1_Missense_Mutation_p.V192A|RGMA_uc010urc.1_Missense_Mutation_p.V309A	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	301					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)															---	---	---	---
MCTP2	55784	broad.mit.edu	37	15	94841688	94841688	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:94841688G>A	uc002btj.2	+	1	259	c.194G>A	c.(193-195)GGC>GAC	p.G65D	MCTP2_uc010urg.1_Missense_Mutation_p.G65D|MCTP2_uc002bti.2_Missense_Mutation_p.G65D|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Missense_Mutation_p.G65D|MCTP2_uc002btg.3_Missense_Mutation_p.G65D|MCTP2_uc002bth.3_Missense_Mutation_p.G65D	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	65					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)															---	---	---	---
ARRDC4	91947	broad.mit.edu	37	15	98514379	98514379	+	Missense_Mutation	SNP	G	A	A	rs140102944		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:98514379G>A	uc010bom.2	+	8	1378	c.1219G>A	c.(1219-1221)GAC>AAC	p.D407N	ARRDC4_uc002bui.3_Missense_Mutation_p.D320N	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	407					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)															---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101983755	101983755	+	Intron	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101983755C>A	uc002bwy.2	-						PCSK6_uc010bpd.2_Intron|PCSK6_uc010bpe.2_Intron|PCSK6_uc002bxa.2_Intron|PCSK6_uc002bxb.2_Intron|PCSK6_uc002bxc.1_Intron|PCSK6_uc002bxd.1_Intron|PCSK6_uc002bxe.2_Intron|PCSK6_uc002bxg.1_Intron	NM_002570	NP_002561			paired basic amino acid cleaving system 4						glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---
SOLH	6650	broad.mit.edu	37	16	601555	601555	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:601555G>A	uc002chi.2	+	9	2599	c.2236G>A	c.(2236-2238)GGC>AGC	p.G746S	SOLH_uc002chj.2_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	746	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)																---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1270167	1270167	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1270167G>A	uc002cks.2	+	35	6483	c.6235G>A	c.(6235-6237)GTC>ATC	p.V2079I	CACNA1H_uc002ckt.2_Missense_Mutation_p.V2073I|CACNA1H_uc002cku.2_Missense_Mutation_p.V774I|CACNA1H_uc010brj.2_Missense_Mutation_p.V790I|CACNA1H_uc002ckv.2_Missense_Mutation_p.V768I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2079	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2050159	2050159	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2050159G>T	uc002cof.1	-	11	1406	c.1391C>A	c.(1390-1392)CCT>CAT	p.P464H	ZNF598_uc002coe.1_Translation_Start_Site	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	464						intracellular	zinc ion binding			lung(1)|breast(1)	2																		---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2106227	2106227	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2106227G>A	uc002con.2	+	7	736	c.630G>A	c.(628-630)GCG>GCA	p.A210A	TSC2_uc010bsd.2_Silent_p.A210A|TSC2_uc002coo.2_Silent_p.A210A|TSC2_uc010uvv.1_Silent_p.A173A|TSC2_uc010uvw.1_Silent_p.A161A|TSC2_uc002cop.2_Silent_p.A10A	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	210	Required for interaction with TSC1.			A -> V (in Ref. 9; AAI50301).	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)						D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---
RAB26	25837	broad.mit.edu	37	16	2203418	2203418	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2203418C>A	uc002cou.2	+	9	901	c.767C>A	c.(766-768)CCT>CAT	p.P256H	RAB26_uc010bsf.2_Missense_Mutation_p.P190H|TRAF7_uc002cow.2_5'Flank	NM_014353	NP_055168	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	256					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding				0																		---	---	---	---
PKMYT1	9088	broad.mit.edu	37	16	3023060	3023060	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3023060G>A	uc002csn.2	-	9	1837	c.1394C>T	c.(1393-1395)GCC>GTC	p.A465V	PAQR4_uc002csj.3_3'UTR|PAQR4_uc002csk.3_3'UTR|PAQR4_uc002csl.3_3'UTR|PAQR4_uc010uwm.1_3'UTR|PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.P478S|PKMYT1_uc002cso.2_Missense_Mutation_p.A396V|PKMYT1_uc002csp.2_Missense_Mutation_p.A456V|PKMYT1_uc002csq.2_Missense_Mutation_p.A456V	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	465	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1																		---	---	---	---
CLDN9	9080	broad.mit.edu	37	16	3063922	3063922	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3063922C>A	uc010uwo.1	+	1	1466	c.559C>A	c.(559-561)CCG>ACG	p.P187T		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	187	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0																		---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3820836	3820836	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3820836G>A	uc002cvv.2	-	14	2819	c.2615C>T	c.(2614-2616)ACG>ATG	p.T872M	CREBBP_uc002cvw.2_Missense_Mutation_p.T834M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	872					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---
ROGDI	79641	broad.mit.edu	37	16	4847715	4847715	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4847715C>A	uc002cxv.2	-	10	924	c.822G>T	c.(820-822)AAG>AAT	p.K274N	ROGDI_uc002cxu.2_Missense_Mutation_p.K184N|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Missense_Mutation_p.K184N	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	274						intracellular				ovary(1)|skin(1)	2																		---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4925334	4925334	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4925334G>A	uc002cyb.2	+	15	3262	c.2923G>A	c.(2923-2925)GGA>AGA	p.G975R	UBN1_uc010uxw.1_Missense_Mutation_p.G975R|UBN1_uc002cyc.2_Missense_Mutation_p.G975R	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	975	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
USP7	7874	broad.mit.edu	37	16	8999108	8999108	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8999108G>A	uc002czl.2	-	14	1708	c.1509C>T	c.(1507-1509)GAC>GAT	p.D503D	USP7_uc010uyk.1_Silent_p.D404D|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.D404D|USP7_uc002czk.2_Silent_p.D487D|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	503					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3																OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	11000900	11000900	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11000900G>A	uc002dai.3	+	11	1684	c.1551G>A	c.(1549-1551)CCG>CCA	p.P517P	CIITA_uc002daj.3_Silent_p.P518P|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.P517P|CIITA_uc002dah.2_Silent_p.P469P|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	517	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1								T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15718923	15718923	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15718923C>T	uc002ddr.2	-	9	2254	c.2061G>A	c.(2059-2061)TCG>TCA	p.S687S	KIAA0430_uc002ddq.2_Silent_p.S543S|KIAA0430_uc010uzv.1_Silent_p.S683S|KIAA0430_uc010uzw.1_Silent_p.S685S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	686						peroxisome	nucleotide binding|RNA binding				0																		---	---	---	---
C16orf63	123811	broad.mit.edu	37	16	15967449	15967449	+	Missense_Mutation	SNP	C	T	T	rs149912065	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15967449C>T	uc002dec.1	-	4	352	c.347G>A	c.(346-348)CGT>CAT	p.R116H	C16orf63_uc002ded.1_Intron	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN	hypothetical protein LOC123811	116					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding				0																		---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19020719	19020719	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19020719C>A	uc002dfq.2	+	2	423	c.293C>A	c.(292-294)TCT>TAT	p.S98Y	TMC7_uc010vao.1_Missense_Mutation_p.S98Y|TMC7_uc002dfp.2_Missense_Mutation_p.S98Y|TMC7_uc010vap.1_Translation_Start_Site	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	98	Extracellular (Potential).					integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---
ITPRIPL2	162073	broad.mit.edu	37	16	19126435	19126435	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19126435T>C	uc002dfu.3	+	1	1182	c.652T>C	c.(652-654)TCG>CCG	p.S218P	ITPRIPL2_uc002dft.2_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	218	Cytoplasmic (Potential).					integral to membrane				skin(2)	2																OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20990740	20990740	+	Missense_Mutation	SNP	G	A	A	rs145375625	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20990740G>A	uc010vbe.1	-	50	7988	c.7988C>T	c.(7987-7989)ACG>ATG	p.T2663M	DNAH3_uc010vbd.1_Missense_Mutation_p.T98M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2663	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21136501	21136501	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21136501G>A	uc010vbe.1	-	9	1399	c.1399C>T	c.(1399-1401)CAC>TAC	p.H467Y	DNAH3_uc002die.2_Missense_Mutation_p.H438Y	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	467	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
VWA3A	146177	broad.mit.edu	37	16	22166968	22166968	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22166968G>A	uc010vbq.1	+	32	3582	c.3486G>A	c.(3484-3486)TGG>TGA	p.W1162*	VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Nonsense_Mutation_p.W240*|VWA3A_uc010bxe.1_Nonsense_Mutation_p.W264*	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1162						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)														---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24802194	24802194	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24802194G>A	uc002dmm.2	+	6	2345	c.2231G>A	c.(2230-2232)CGA>CAA	p.R744Q	TNRC6A_uc010bxs.2_Missense_Mutation_p.R491Q|TNRC6A_uc010vcc.1_Missense_Mutation_p.R491Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R491Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R491Q	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	744	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)														---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27475941	27475941	+	Missense_Mutation	SNP	G	A	A	rs34737721	byFrequency;by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27475941G>A	uc002dov.1	-	34	5612	c.5572C>T	c.(5572-5574)CGG>TGG	p.R1858W	GTF3C1_uc002dou.2_Missense_Mutation_p.R1858W	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1858						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5																		---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27540000	27540000	+	Missense_Mutation	SNP	G	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27540000G>C	uc002dov.1	-	6	932	c.892C>G	c.(892-894)CTG>GTG	p.L298V	GTF3C1_uc002dou.2_Missense_Mutation_p.L298V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	298						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5																		---	---	---	---
CD19	930	broad.mit.edu	37	16	28948647	28948647	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28948647C>T	uc002drs.2	+	9	1316	c.1254C>T	c.(1252-1254)TCC>TCT	p.S418S	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.S418S	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	418	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29990825	29990825	+	Missense_Mutation	SNP	G	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29990825G>C	uc002dva.1	+	8	1434	c.651G>C	c.(649-651)GAG>GAC	p.E217D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.E217D|TAOK2_uc002dvc.1_Missense_Mutation_p.E217D|TAOK2_uc010bzm.1_Missense_Mutation_p.E217D|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	217	Protein kinase.				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																		---	---	---	---
HIRIP3	8479	broad.mit.edu	37	16	30005879	30005879	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30005879C>T	uc002dve.2	-	4	1048	c.587G>A	c.(586-588)AGT>AAT	p.S196N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	196	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1																		---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30098135	30098135	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30098135G>T	uc010veh.1	-	7	937	c.877C>A	c.(877-879)CCA>ACA	p.P293T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	293					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30748452	30748452	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30748452C>T	uc002dze.1	+	34	7476	c.7091C>T	c.(7090-7092)CCG>CTG	p.P2364L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P2159L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2364					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)															---	---	---	---
PHKG2	5261	broad.mit.edu	37	16	30762482	30762482	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30762482G>A	uc002dzk.1	+	3	244	c.151G>A	c.(151-153)GCG>ACG	p.A51T	PHKG2_uc002dzi.1_Missense_Mutation_p.A51T|PHKG2_uc002dzj.1_5'UTR|PHKG2_uc002dzl.1_Missense_Mutation_p.A51T	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	51	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)															---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30976142	30976142	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30976142G>A	uc002ead.1	+	7	1765	c.1079G>A	c.(1078-1080)CGT>CAT	p.R360H		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	360	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3																		---	---	---	---
HSD3B7	80270	broad.mit.edu	37	16	30998233	30998233	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30998233A>G	uc002eaf.2	+	6	710	c.604A>G	c.(604-606)ATG>GTG	p.M202V	HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Missense_Mutation_p.M202V	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	202					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0																		---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31391583	31391583	+	Intron	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31391583C>A	uc002ebu.1	+						ITGAX_uc002ebt.2_Intron	NM_000887	NP_000878			integrin alpha X precursor						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48180287	48180287	+	Missense_Mutation	SNP	G	A	A	rs41280929		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48180287G>A	uc002efc.1	-	1	395	c.49C>T	c.(49-51)CGG>TGG	p.R17W	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.R17W|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	17						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)																---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49669949	49669949	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49669949A>G	uc002efs.2	-	5	3412	c.3114T>C	c.(3112-3114)CAT>CAC	p.H1038H	ZNF423_uc010vgn.1_Silent_p.H921H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1038	C2H2-type 24.				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)																---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53358288	53358288	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53358288G>T	uc002ehb.2	+	38	8339	c.8175G>T	c.(8173-8175)TTG>TTT	p.L2725F	CHD9_uc002egy.2_Missense_Mutation_p.L2709F|CHD9_uc002ehc.2_Missense_Mutation_p.L2710F|CHD9_uc002ehf.2_Missense_Mutation_p.L1823F|CHD9_uc010cbw.2_Missense_Mutation_p.L791F	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2725	LXXLL motif 4.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)																---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56924230	56924230	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56924230G>A	uc010ccm.2	+	19	2359	c.2330G>A	c.(2329-2331)CGG>CAG	p.R777Q	SLC12A3_uc002ekd.3_Missense_Mutation_p.R777Q|SLC12A3_uc010ccn.2_Missense_Mutation_p.R776Q	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	777	Cytoplasmic (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)													---	---	---	---
GPR114	221188	broad.mit.edu	37	16	57604383	57604383	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57604383G>A	uc002elx.3	+	10	1229	c.1144G>A	c.(1144-1146)GGA>AGA	p.G382R	GPR114_uc010vhr.1_Intron|GPR114_uc002ely.2_Missense_Mutation_p.G382R	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	382	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1																		---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57718088	57718088	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57718088G>A	uc002emh.2	+	9	1229	c.1126G>A	c.(1126-1128)GGG>AGG	p.G376R	GPR97_uc010vhv.1_Missense_Mutation_p.G256R|GPR97_uc010cdd.2_Intron|GPR97_uc010cde.2_Intron	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	376	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1																		---	---	---	---
CKLF	51192	broad.mit.edu	37	16	66586615	66586615	+	Translation_Start_Site	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66586615C>T	uc002eow.2	+	1	144	c.-3C>T	c.(-5--1)GACGC>GATGC		CKLF_uc002eox.1_Translation_Start_Site|CKLF_uc002eot.2_Translation_Start_Site|CKLF_uc002eou.2_Translation_Start_Site|CKLF_uc002eov.2_Translation_Start_Site	NM_016951	NP_058647			chemokine-like factor isoform a						cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell	extracellular space|integral to membrane	chemokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)														---	---	---	---
CES2	8824	broad.mit.edu	37	16	66974389	66974389	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66974389G>A	uc002eqr.2	+	5	1799	c.799G>A	c.(799-801)GCT>ACT	p.A267T	CES2_uc002eqq.2_Missense_Mutation_p.A267T|CES2_uc002eqs.2_Missense_Mutation_p.A110T	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	203					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)														---	---	---	---
B3GNT9	84752	broad.mit.edu	37	16	67183798	67183798	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67183798G>A	uc002erf.2	-	2	912	c.591C>T	c.(589-591)TTC>TTT	p.F197F	uc002erg.1_Silent_p.S67S	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	197	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0																		---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68714935	68714935	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68714935C>T	uc002ewf.2	+	8	2064	c.932C>T	c.(931-933)ACG>ATG	p.T311M	CDH3_uc010vli.1_Missense_Mutation_p.T256M	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	311	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)														---	---	---	---
CDH1	999	broad.mit.edu	37	16	68847398	68847398	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68847398G>T	uc002ewg.1	+	9	1444	c.1320G>T	c.(1318-1320)AAG>AAT	p.K440N	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	440	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(5)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)				Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70867810	70867810	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70867810G>A	uc002ezr.2	-	79	13784	c.13656C>T	c.(13654-13656)AAC>AAT	p.N4552N	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4553										ovary(1)|skin(1)	2		Ovarian(137;0.0654)																---	---	---	---
FA2H	79152	broad.mit.edu	37	16	74752999	74752999	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74752999G>T	uc002fde.1	-	5	741	c.673C>A	c.(673-675)CTC>ATC	p.L225I	FA2H_uc002fdd.1_5'Flank|FA2H_uc010vmy.1_RNA	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	225	Helical; (Potential).				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0																		---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563882	75563882	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563882G>A	uc002fei.2	-	3	1796	c.401C>T	c.(400-402)CCA>CTA	p.P134L	CHST5_uc002fej.1_Missense_Mutation_p.P140L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	134	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563934	75563934	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563934G>A	uc002fei.2	-	3	1744	c.349C>T	c.(349-351)CTG>TTG	p.L117L	CHST5_uc002fej.1_Silent_p.L123L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	117	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77227571	77227571	+	Silent	SNP	G	A	A	rs151075634		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77227571G>A	uc002fez.2	+	3	702	c.372G>A	c.(370-372)TCG>TCA	p.S124S	MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	124							protein binding				0																		---	---	---	---
C16orf7	9605	broad.mit.edu	37	16	89783151	89783151	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89783151C>T	uc002fom.1	-	3	380	c.255G>A	c.(253-255)ACG>ACA	p.T85T	C16orf7_uc002fol.1_Silent_p.T15T|uc002fon.1_RNA|uc002foo.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	85					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)														---	---	---	---
GEMIN4	50628	broad.mit.edu	37	17	650231	650231	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:650231C>T	uc002frs.1	-	2	1171	c.1052G>A	c.(1051-1053)AGT>AAT	p.S351N	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	351					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)														---	---	---	---
SMYD4	114826	broad.mit.edu	37	17	1704002	1704002	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1704002G>T	uc002ftm.3	-	5	854	c.686C>A	c.(685-687)TCC>TAC	p.S229Y	SMYD4_uc002ftn.1_Missense_Mutation_p.S84Y	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	229							zinc ion binding			skin(3)|kidney(2)	5																		---	---	---	---
MED31	51003	broad.mit.edu	37	17	6547901	6547901	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6547901C>T	uc002gdg.3	-	4	388	c.282G>A	c.(280-282)GCG>GCA	p.A94A	MED31_uc002gdh.3_RNA	NM_016060	NP_057144	Q9Y3C7	MED31_HUMAN	mediator of RNA polymerase II transcription,	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding				0																		---	---	---	---
CD68	968	broad.mit.edu	37	17	7483329	7483329	+	Missense_Mutation	SNP	C	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7483329C>G	uc002ghv.2	+	2	442	c.251C>G	c.(250-252)ACC>AGC	p.T84S	CD68_uc002ghu.2_Missense_Mutation_p.T57S	NM_001251	NP_001242	P34810	CD68_HUMAN	CD68 antigen isoform A	84	Mucin-like.|Extracellular (Potential).|1.|2 X 30 AA tandem repeats.					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane					0																		---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579348	7579348	+	Missense_Mutation	SNP	G	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7579348G>C	uc002gim.2	-	4	533	c.339C>G	c.(337-339)TTC>TTG	p.F113L	TP53_uc002gig.1_Missense_Mutation_p.F113L|TP53_uc002gih.2_Missense_Mutation_p.F113L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.F113L|TP53_uc010cni.1_Missense_Mutation_p.F113L|TP53_uc002gij.2_Missense_Mutation_p.F113L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.F74L|TP53_uc010cnk.1_Missense_Mutation_p.F128L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	113	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).		F -> L (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> S (in sporadic cancers; somatic mutation).|F -> I (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.F113C(8)|p.0?(7)|p.F113S(4)|p.F113V(4)|p.F113L(3)|p.G59fs*23(3)|p.F113del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(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)			---	---	---	---
AURKB	9212	broad.mit.edu	37	17	8108691	8108691	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8108691C>T	uc002gkm.2	-	8	765	c.704G>A	c.(703-705)GGC>GAC	p.G235D	AURKB_uc010cnu.2_Missense_Mutation_p.G55D|AURKB_uc002gkn.2_Missense_Mutation_p.G236D|AURKB_uc010vuu.1_Missense_Mutation_p.G194D|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	235	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4																		---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9828811	9828811	+	Missense_Mutation	SNP	T	C	C	rs145454710		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9828811T>C	uc002gmg.1	-	11	1281	c.1120A>G	c.(1120-1122)AGA>GGA	p.R374G	GAS7_uc010vvc.1_Missense_Mutation_p.R188G|GAS7_uc002gmh.1_Missense_Mutation_p.R234G|GAS7_uc010vvd.1_Missense_Mutation_p.R326G|GAS7_uc002gmi.2_Missense_Mutation_p.R310G|GAS7_uc002gmj.1_Missense_Mutation_p.R314G|GAS7_uc010coh.1_Missense_Mutation_p.R314G	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	374	Potential.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2								T	MLL	AML*						OREG0024170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10436629	10436629	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10436629A>G	uc010coi.2	-	21	2542	c.2414T>C	c.(2413-2415)GTG>GCG	p.V805A	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.V805A|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	805	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---
Unknown	0	broad.mit.edu	37	17	14683434	14683434	+	IGR	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:14683434G>A								HS3ST3B1 (433942 upstream) : PMP22 (449663 downstream)																																			---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18034842	18034842	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18034842T>C	uc010vxh.1	+	9	4541	c.4203T>C	c.(4201-4203)TTT>TTC	p.F1401F		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1401	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
LLGL1	3996	broad.mit.edu	37	17	18144927	18144927	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18144927G>A	uc002gsp.2	+	18	2726	c.2665G>A	c.(2665-2667)GTC>ATC	p.V889I		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	889	WD 13.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)																	---	---	---	---
DHRS7B	25979	broad.mit.edu	37	17	21081645	21081645	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21081645A>G	uc002gyo.2	+	3	326	c.299A>G	c.(298-300)CAT>CGT	p.H100R		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	100	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1																		---	---	---	---
SLC13A2	9058	broad.mit.edu	37	17	26817589	26817589	+	Missense_Mutation	SNP	G	A	A	rs11568463		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26817589G>A	uc002hbh.2	+	3	416	c.349G>A	c.(349-351)GTT>ATT	p.V117I	SLC13A2_uc010wal.1_Missense_Mutation_p.V74I|SLC13A2_uc010wam.1_Missense_Mutation_p.V73I|SLC13A2_uc010wan.1_Missense_Mutation_p.V166I|SLC13A2_uc010wao.1_Missense_Mutation_p.V74I|SLC13A2_uc002hbi.2_Missense_Mutation_p.V46I	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	117	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)													---	---	---	---
FOXN1	8456	broad.mit.edu	37	17	26861463	26861463	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26861463C>A	uc010crm.2	+	7	1240	c.1042C>A	c.(1042-1044)CTC>ATC	p.L348I	FOXN1_uc002hbj.2_Missense_Mutation_p.L348I	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	348	Fork-head.				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	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			skin(1)	1	Lung NSC(42;0.00431)																	---	---	---	---
AP2B1	163	broad.mit.edu	37	17	33935413	33935413	+	Intron	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33935413A>G	uc002hjr.2	+						AP2B1_uc002hjq.2_Intron|AP2B1_uc010wci.1_Intron|AP2B1_uc002hjs.2_Intron|AP2B1_uc002hjt.2_Intron|AP2B1_uc010ctv.2_Intron	NM_001282	NP_001273			adaptor-related protein complex 2, beta 1						axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)														---	---	---	---
RASL10B	91608	broad.mit.edu	37	17	34062267	34062267	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34062267C>T	uc002hju.2	+	2	430	c.64C>T	c.(64-66)CGC>TGC	p.R22C		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	22	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			lung(2)|breast(2)	4				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
ACACA	31	broad.mit.edu	37	17	35687288	35687288	+	Nonsense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35687288G>A	uc002hnm.2	-	3	243	c.52C>T	c.(52-54)CGA>TGA	p.R18*	ACACA_uc002hnn.2_Nonsense_Mutation_p.R18*|ACACA_uc002hno.2_Nonsense_Mutation_p.R55*|ACACA_uc010cuz.2_Nonsense_Mutation_p.R18*|ACACA_uc002hnq.2_5'UTR|ACACA_uc002hnp.1_RNA|ACACA_uc002hnr.1_RNA	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	18					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	37243886	37243886	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37243886G>A	uc002hrg.2	-	8	1093	c.881C>T	c.(880-882)TCG>TTG	p.S294L	uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.S2L|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	294	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
C17orf37	84299	broad.mit.edu	37	17	37885823	37885823	+	Missense_Mutation	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37885823T>G	uc002hsq.2	-	4	340	c.300A>C	c.(298-300)GAA>GAC	p.E100D		NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	hypothetical protein LOC84299	100					cell redox homeostasis	cytosol|membrane	selenium binding				0	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)															---	---	---	---
PSMD3	5709	broad.mit.edu	37	17	38142881	38142881	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38142881G>A	uc002htn.1	+	3	629	c.465G>A	c.(463-465)GCG>GCA	p.A155A	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.A56A	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	155					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)																	---	---	---	---
THRA	7067	broad.mit.edu	37	17	38233862	38233862	+	Splice_Site	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38233862G>A	uc002htw.2	+	4	705	c.222_splice	c.e4+1	p.K74_splice	THRA_uc010cwp.1_Splice_Site_p.K74_splice|THRA_uc002htv.2_Splice_Site_p.K74_splice|THRA_uc002htx.2_Splice_Site_p.K74_splice	NM_003250	NP_003241			thyroid hormone receptor, alpha isoform 2						negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---
KRT12	3859	broad.mit.edu	37	17	39019563	39019563	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39019563G>A	uc002hvk.2	-	6	1152	c.1128C>T	c.(1126-1128)GCC>GCT	p.A376A		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	376	Rod.|Coil 2.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)																---	---	---	---
KRT33B	3884	broad.mit.edu	37	17	39525807	39525807	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39525807G>T	uc002hwl.2	-	1	241	c.196C>A	c.(196-198)CGC>AGC	p.R66S		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	66	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)																---	---	---	---
KRT38	8687	broad.mit.edu	37	17	39595447	39595447	+	Intron	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39595447G>T	uc002hwq.1	-							NM_006771	NP_006762			keratin 38							intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)																---	---	---	---
JUP	3728	broad.mit.edu	37	17	39680055	39680055	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39680055G>A	uc010wfs.1	-	9	1640	c.1632C>T	c.(1630-1632)CGC>CGT	p.R544R	KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Silent_p.R381R	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	Error:Variant_position_missing_in_P14923_after_alignment					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)														---	---	---	---
JUP	3728	broad.mit.edu	37	17	39680717	39680717	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39680717C>T	uc010wfs.1	-	7	1233	c.1225G>A	c.(1225-1227)GCC>ACC	p.A409T	KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Missense_Mutation_p.A246T	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	Error:Variant_position_missing_in_P14923_after_alignment					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)														---	---	---	---
FKBP10	60681	broad.mit.edu	37	17	39969513	39969513	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39969513G>A	uc002hxv.2	+	1	552	c.227G>A	c.(226-228)GGC>GAC	p.G76D	SC65_uc002hxt.2_5'Flank|SC65_uc002hxu.2_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	76	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)														---	---	---	---
HSD17B1	3292	broad.mit.edu	37	17	40706846	40706846	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40706846G>A	uc002hzw.2	+	6	1845	c.877G>A	c.(877-879)GAG>AAG	p.E293K	HSD17B1_uc002hzx.2_Missense_Mutation_p.E294K|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'Flank|HSD17B1_uc010cyi.2_Missense_Mutation_p.E324K	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	293					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)													---	---	---	---
NBR1	4077	broad.mit.edu	37	17	41341640	41341640	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41341640G>A	uc010czd.2	+	8	656	c.516G>A	c.(514-516)AAG>AAA	p.K172K	NBR1_uc010diz.2_Silent_p.K172K|NBR1_uc010whu.1_Silent_p.K172K|NBR1_uc010whv.1_Silent_p.K172K|NBR1_uc010whw.1_Silent_p.K151K|NBR1_uc010whx.1_5'Flank	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	172					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)														---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42940277	42940277	+	Intron	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42940277G>T	uc002ihn.2	-						EFTUD2_uc010wje.1_Intron|EFTUD2_uc010wjf.1_Intron	NM_004247	NP_004238			elongation factor Tu GTP binding domain							Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)																---	---	---	---
HEXIM2	124790	broad.mit.edu	37	17	43246699	43246699	+	Silent	SNP	C	T	T	rs150581722		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43246699C>T	uc002iih.1	+	4	623	c.384C>T	c.(382-384)CGC>CGT	p.R128R	HEXIM2_uc010daf.1_Silent_p.R150R|HEXIM2_uc002iii.1_Silent_p.R128R|HEXIM2_uc002iij.1_Silent_p.R128R|uc002iik.1_RNA	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	hexamthylene bis-acetamide inducible 2	128					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding				0																		---	---	---	---
WNT3	7473	broad.mit.edu	37	17	44845923	44845923	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44845923G>A	uc002ikv.2	-	4	950	c.831C>T	c.(829-831)TAC>TAT	p.Y277Y		NM_030753	NP_110380	P56703	WNT3_HUMAN	wingless-type MMTV integration site family,	277					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)															---	---	---	---
ITGB3	3690	broad.mit.edu	37	17	45380143	45380143	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45380143G>A	uc002ilj.2	+	13	2091	c.2071G>A	c.(2071-2073)GTC>ATC	p.V691I	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	691	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)													---	---	---	---
SGCA	6442	broad.mit.edu	37	17	48252649	48252649	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48252649G>T	uc002iqi.2	+	9	1051	c.1015G>T	c.(1015-1017)GGG>TGG	p.G339W	SGCA_uc002iqj.2_Missense_Mutation_p.G215W|SGCA_uc010wmi.1_RNA|HILS1_uc010wmj.1_5'Flank|HILS1_uc002iqk.2_Intron|HILS1_uc002iql.2_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	339	Cytoplasmic (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2																		---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56700344	56700344	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56700344T>C	uc010dcz.1	-	4	399	c.281A>G	c.(280-282)CAT>CGT	p.H94R	TEX14_uc002iwr.1_Missense_Mutation_p.H94R|TEX14_uc002iws.1_Missense_Mutation_p.H94R|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	94	ANK 3.					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)																	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60062071	60062071	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60062071C>T	uc002izo.2	-	14	2709	c.2632G>A	c.(2632-2634)GCG>ACG	p.A878T		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	878					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																		---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60757243	60757243	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60757243C>T	uc002jad.2	+	14	2680	c.2278C>T	c.(2278-2280)CGC>TGC	p.R760C	MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	760	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
STRADA	92335	broad.mit.edu	37	17	61781857	61781857	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61781857G>A	uc002jbm.2	-	11	1103	c.944C>T	c.(943-945)TCG>TTG	p.S315L	STRADA_uc002jbn.2_Missense_Mutation_p.S257L|STRADA_uc002jbo.2_Missense_Mutation_p.S278L|STRADA_uc002jbp.2_Missense_Mutation_p.S278L|STRADA_uc002jbq.2_Missense_Mutation_p.S257L|STRADA_uc010wpq.1_Missense_Mutation_p.S271L|STRADA_uc010wpr.1_Missense_Mutation_p.S286L|STRADA_uc010ddw.2_Missense_Mutation_p.S286L|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	315	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1																		---	---	---	---
SMARCD2	6603	broad.mit.edu	37	17	61911863	61911863	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61911863A>G	uc010deb.1	-	7	1209	c.892T>C	c.(892-894)TGC>CGC	p.C298R	SMARCD2_uc010wpt.1_Missense_Mutation_p.C250R|SMARCD2_uc010dea.1_Missense_Mutation_p.C223R|SMARCD2_uc010dec.1_Missense_Mutation_p.C277R	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	298					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0																OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SMARCD2	6603	broad.mit.edu	37	17	61912836	61912836	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61912836C>T	uc010deb.1	-	5	976	c.659G>A	c.(658-660)GGA>GAA	p.G220E	SMARCD2_uc010wpt.1_Missense_Mutation_p.G172E|SMARCD2_uc010dea.1_Missense_Mutation_p.G145E|SMARCD2_uc010dec.1_Missense_Mutation_p.G199E	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	220					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0																		---	---	---	---
DDX5	1655	broad.mit.edu	37	17	62496081	62496081	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62496081G>T	uc002jek.2	-	13	2052	c.1805C>A	c.(1804-1806)CCT>CAT	p.P602H	POLG2_uc002jei.2_5'Flank|POLG2_uc010deg.1_5'Flank|DDX5_uc010deh.2_Missense_Mutation_p.P602H|DDX5_uc002jej.2_Missense_Mutation_p.P497H|DDX5_uc010wqa.1_Missense_Mutation_p.P523H	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	602					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)					T	ETV4	prostate								---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71398252	71398252	+	Missense_Mutation	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71398252T>A	uc010dfm.2	-	19	2513	c.2513A>T	c.(2512-2514)GAG>GTG	p.E838V	SDK2_uc002jjt.3_5'UTR|SDK2_uc010dfn.2_Missense_Mutation_p.E517V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	838	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2																		---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72345394	72345394	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72345394C>T	uc002jkm.3	+	10	1257	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G	KIF19_uc002jkj.2_Silent_p.G373G|KIF19_uc002jkk.2_Silent_p.G331G|KIF19_uc002jkl.2_Silent_p.G331G	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	373	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0																		---	---	---	---
RECQL5	9400	broad.mit.edu	37	17	73658666	73658666	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73658666G>A	uc010dgl.2	-	4	820	c.664C>T	c.(664-666)CGG>TGG	p.R222W	RECQL5_uc010dgk.2_Missense_Mutation_p.R195W|RECQL5_uc002jpb.1_Missense_Mutation_p.R222W|RECQL5_uc002joz.3_Missense_Mutation_p.R222W|RECQL5_uc002jpa.3_Missense_Mutation_p.R222W	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	222					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)										Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
UNC13D	201294	broad.mit.edu	37	17	73832117	73832117	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73832117C>T	uc002jpp.2	-	17	1900	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	UNC13D_uc010wsk.1_Missense_Mutation_p.R507H|UNC13D_uc002jpq.1_Missense_Mutation_p.R157H|UNC13D_uc010dgq.1_Missense_Mutation_p.R303H	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	507	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)											Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74003402	74003402	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74003402C>T	uc002jqi.2	-	22	6112	c.5884G>A	c.(5884-5886)GGG>AGG	p.G1962R	EVPL_uc010wss.1_Missense_Mutation_p.G1984R|EVPL_uc010wst.1_Missense_Mutation_p.G1432R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1962	Plectin 6.|Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
ST6GALNAC1	55808	broad.mit.edu	37	17	74623283	74623283	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74623283G>A	uc002jsh.2	-	4	1212	c.1038C>T	c.(1036-1038)CCC>CCT	p.P346P	ST6GALNAC1_uc002jsi.2_Silent_p.P214P|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	346	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0																		---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76464933	76464933	+	5'Flank	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76464933G>A	uc010dhp.1	-						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)															---	---	---	---
ENPP7	339221	broad.mit.edu	37	17	77709262	77709262	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77709262G>A	uc002jxa.2	+	3	840	c.820G>A	c.(820-822)GAG>AAG	p.E274K		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	274					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
Unknown	0	broad.mit.edu	37	17	78280270	78280270	+	Splice_Site	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78280270T>G	uc002jyf.2	+	12	2570	c.2427_splice	c.e12+2	p.Q809_splice	uc002jyg.1_Splice_Site_p.Q540_splice	NM_020954	NP_066005			hypothetical protein LOC57714																														---	---	---	---
GPS1	2873	broad.mit.edu	37	17	80014355	80014355	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80014355C>T	uc002kdl.1	+	10	1102	c.1057C>T	c.(1057-1059)CTC>TTC	p.L353F	GPS1_uc002kdk.1_Missense_Mutation_p.L389F|GPS1_uc010dij.1_Missense_Mutation_p.L388F|GPS1_uc002kdm.1_Missense_Mutation_p.L333F|GPS1_uc002kdn.1_Missense_Mutation_p.L349F|GPS1_uc002kdo.1_Missense_Mutation_p.L352F|GPS1_uc010wvh.1_Missense_Mutation_p.L345F	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	353	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)															---	---	---	---
TEX19	400629	broad.mit.edu	37	17	80320038	80320038	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80320038G>A	uc002keq.2	+	2	321	c.12G>A	c.(10-12)CCG>CCA	p.P4P		NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	testis expressed 19	4						nucleus					0																		---	---	---	---
C17orf62	79415	broad.mit.edu	37	17	80404490	80404490	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80404490C>T	uc002kez.2	-						C17orf62_uc002kex.2_5'Flank|C17orf62_uc002key.2_Intron|C17orf62_uc002kfa.2_Intron|C17orf62_uc010dir.2_Intron|C17orf62_uc002kfb.3_Intron|C17orf62_uc002kfc.3_Intron|C17orf62_uc002kfd.3_Intron|C17orf62_uc002kfe.3_Intron|C17orf62_uc010dis.1_Intron	NM_001100407	NP_001093877			hypothetical protein LOC79415 isoform a							integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)															---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	7955139	7955139	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7955139C>T	uc002knn.3	+	7	1362	c.859C>T	c.(859-861)CCA>TCA	p.P287S	PTPRM_uc010dkv.2_Missense_Mutation_p.P287S|PTPRM_uc010wzl.1_Missense_Mutation_p.P74S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	287	Fibronectin type-III 1.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9570554	9570554	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9570554C>T	uc002koe.1	-	11	1292	c.1174G>A	c.(1174-1176)GGG>AGG	p.G392R	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Missense_Mutation_p.G238R|PPP4R1_uc002kod.1_Missense_Mutation_p.G375R|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	392					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1																		---	---	---	---
C18orf1	753	broad.mit.edu	37	18	13621130	13621130	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13621130G>A	uc002ksa.2	+	5	864	c.196G>A	c.(196-198)GCC>ACC	p.A66T	C18orf1_uc002ksb.2_Missense_Mutation_p.A66T|C18orf1_uc002kse.2_Missense_Mutation_p.A29T|C18orf1_uc002ksf.2_Missense_Mutation_p.A29T|C18orf1_uc002ksg.1_5'UTR|C18orf1_uc002ksh.1_Missense_Mutation_p.A8T|C18orf1_uc002ksi.1_Missense_Mutation_p.A8T	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	66	Helical; (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)														---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28913557	28913557	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28913557C>T	uc002kwp.2	+	7	902	c.690C>T	c.(688-690)TAC>TAT	p.Y230Y		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	230	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)															---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43216967	43216967	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43216967T>C	uc010dnj.2	+	7	984	c.663T>C	c.(661-663)TCT>TCC	p.S221S	SLC14A2_uc002lbb.2_Silent_p.S221S|SLC14A2_uc002lbe.2_Silent_p.S221S	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	221	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
KIAA0427	9811	broad.mit.edu	37	18	46343630	46343630	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:46343630C>T	uc002ldc.2	+	10	1695	c.1410C>T	c.(1408-1410)GAC>GAT	p.D470D	KIAA0427_uc002ldd.2_Silent_p.D472D|KIAA0427_uc002lde.3_Silent_p.D99D	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	470	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0																		---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47802019	47802019	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47802019C>T	uc010dow.1	-	8	1180	c.743G>A	c.(742-744)CGC>CAC	p.R248H	MBD1_uc002lef.2_Missense_Mutation_p.R30H|MBD1_uc002leg.2_Missense_Mutation_p.R199H|MBD1_uc010xdi.1_Missense_Mutation_p.R274H|MBD1_uc002leh.3_Missense_Mutation_p.R248H|MBD1_uc002len.2_Missense_Mutation_p.R248H|MBD1_uc002lei.3_Missense_Mutation_p.R248H|MBD1_uc002lej.3_Missense_Mutation_p.R248H|MBD1_uc002lek.3_Missense_Mutation_p.R199H|MBD1_uc002lel.3_Missense_Mutation_p.R248H|MBD1_uc002lem.3_Missense_Mutation_p.R248H|MBD1_uc010xdj.1_Missense_Mutation_p.R248H|MBD1_uc010xdk.1_Missense_Mutation_p.R248H|MBD1_uc010dox.1_Missense_Mutation_p.R248H|MBD1_uc002leo.2_Missense_Mutation_p.R248H	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	248	CXXC-type 2.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MAPK4	5596	broad.mit.edu	37	18	48190498	48190498	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48190498G>A	uc002lev.2	+	2	1170	c.170G>A	c.(169-171)CGC>CAC	p.R57H	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.R57H	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	57	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)														---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55315824	55315824	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55315824C>T	uc002lgw.2	-	27	3652	c.3652G>A	c.(3652-3654)GCG>ACG	p.A1218T	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1218	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)												Byler_disease				---	---	---	---
VPS4B	9525	broad.mit.edu	37	18	61058235	61058235	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61058235A>G	uc002lix.2	-	11	1568	c.1308T>C	c.(1306-1308)TTT>TTC	p.F436F		NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	436					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1																		---	---	---	---
CD226	10666	broad.mit.edu	37	18	67563197	67563197	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67563197A>G	uc010dqo.2	-	3	914	c.467T>C	c.(466-468)ATG>ACG	p.M156T	CD226_uc002lkm.3_Missense_Mutation_p.M156T	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	156	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity				0		Esophageal squamous(42;0.129)																---	---	---	---
CDC34	997	broad.mit.edu	37	19	535840	535840	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:535840C>T	uc002lov.2	+	2	380	c.181C>T	c.(181-183)CGC>TGC	p.R61C		NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	61					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)														---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1055119	1055119	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1055119C>T	uc002lqw.3	+	30	4205	c.3974C>T	c.(3973-3975)GCT>GTT	p.A1325V	ABCA7_uc010dsb.1_Missense_Mutation_p.A1187V|ABCA7_uc002lqy.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1325	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)														---	---	---	---
MUM1	84939	broad.mit.edu	37	19	1376571	1376571	+	3'UTR	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1376571G>A	uc010xgm.1	+	14					MUM1_uc002lrz.2_Missense_Mutation_p.R711Q|MUM1_uc002lsb.2_Missense_Mutation_p.R642Q|MUM1_uc002lsd.2_RNA					SubName: Full=MUM1 protein;						chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding				0		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;0.000172)|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)														---	---	---	---
PCSK4	54760	broad.mit.edu	37	19	1487263	1487263	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1487263C>T	uc002ltb.1	-	7	794	c.732G>A	c.(730-732)TCG>TCA	p.S244S	PCSK4_uc002lta.2_Silent_p.S56S	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	244	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		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)														---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2110228	2110228	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2110228C>T	uc002luz.2	-						AP3D1_uc010dsv.2_Intron|AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Intron	NM_003938	NP_003929			adaptor-related protein complex 3, delta 1						eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2340969	2340969	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2340969G>A	uc002lvs.2	+	9	993	c.913G>A	c.(913-915)GTG>ATG	p.V305M	SPPL2B_uc010dsw.1_Silent_p.A276A|SPPL2B_uc010dsy.1_Silent_p.A276A|SPPL2B_uc010dsz.1_Silent_p.A304A|SPPL2B_uc002lvr.2_Missense_Mutation_p.V305M|SPPL2B_uc010dta.1_Silent_p.A156A|SPPL2B_uc002lvu.2_Silent_p.A98A	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	305	Helical; (Potential).					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)														---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2790516	2790516	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2790516G>T	uc002lwj.2	+	2	269	c.114G>T	c.(112-114)AGG>AGT	p.R38S		NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	38					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(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)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2878023	2878023	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2878023G>A	uc002lwp.1	+	4	1154	c.1067G>A	c.(1066-1068)CGC>CAC	p.R356H	ZNF556_uc002lwq.2_Missense_Mutation_p.R355H	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	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)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
TBXA2R	6915	broad.mit.edu	37	19	3600462	3600462	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3600462C>T	uc002lyg.1	-	2	385	c.171G>A	c.(169-171)TCG>TCA	p.S57S	TBXA2R_uc002lye.1_Silent_p.S57S	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	57	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)													---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5231455	5231455	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5231455A>G	uc002mbv.2	-	14	2255	c.2021T>C	c.(2020-2022)ATC>ACC	p.I674T	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.I661T|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	674	Extracellular (Potential).|Fibronectin type-III 4.				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	5239009	5239009	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5239009G>A	uc002mbv.2	-	13	2004	c.1770C>T	c.(1768-1770)TAC>TAT	p.Y590Y	PTPRS_uc002mbu.1_Silent_p.Y577Y|PTPRS_uc010xin.1_Silent_p.Y577Y|PTPRS_uc002mbw.2_Silent_p.Y577Y|PTPRS_uc002mbx.2_Silent_p.Y581Y|PTPRS_uc002mby.2_Silent_p.Y577Y	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	590	Extracellular (Potential).|Fibronectin type-III 3.				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)														---	---	---	---
GPR108	56927	broad.mit.edu	37	19	6732176	6732176	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6732176C>T	uc002mfp.2	-						GPR108_uc010duv.2_5'Flank|GPR108_uc002mfn.2_Intron|GPR108_uc002mfo.3_Intron|GPR108_uc010duw.2_Intron	NM_001080452	NP_001073921			G protein-coupled receptor 108 isoform 1							integral to membrane					0																		---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10250344	10250344	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10250344G>A	uc002mng.2	-						DNMT1_uc002mne.2_Intron|DNMT1_uc002mnf.2_Intron|DNMT1_uc010xlc.1_Intron|DNMT1_uc002mnh.2_Intron|DNMT1_uc010xld.1_Intron	NM_001379	NP_001370			DNA (cytosine-5-)-methyltransferase 1 isoform b						chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)													---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11152043	11152043	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11152043C>T	uc002mqf.3	+	30	4515	c.4231C>T	c.(4231-4233)CGG>TGG	p.R1411W	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1411W|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1443W|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1378W|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1378W|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1381W|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1381W|SMARCA4_uc002mqh.3_Missense_Mutation_p.R501W	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1411					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				---	---	---	---
RGL3	57139	broad.mit.edu	37	19	11517191	11517191	+	Silent	SNP	G	T	T	rs143719316	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11517191G>T	uc002mrp.2	-	7	964	c.900C>A	c.(898-900)ACC>ACA	p.T300T	RGL3_uc002mrn.2_Silent_p.T64T|RGL3_uc002mrm.2_Silent_p.T64T|RGL3_uc002mro.2_Silent_p.T300T	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	300	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1																		---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12760206	12760206	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12760206C>T	uc002mub.2	-	19	2380	c.2304G>A	c.(2302-2304)ACG>ACA	p.T768T	MAN2B1_uc010dyv.1_Silent_p.T767T	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	768					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12814278	12814278	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12814278C>T	uc002muo.2	-	19	2358	c.2173G>A	c.(2173-2175)GCC>ACC	p.A725T	TNPO2_uc002mup.2_Missense_Mutation_p.A817T|TNPO2_uc002muq.2_Missense_Mutation_p.A725T|TNPO2_uc002mur.2_Missense_Mutation_p.A725T	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	725	HEAT 12.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1																		---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12979633	12979633	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12979633G>A	uc002mvm.2	+	21	2871	c.2743G>A	c.(2743-2745)GCC>ACC	p.A915T		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	915					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7																		---	---	---	---
FARSA	2193	broad.mit.edu	37	19	13041545	13041545	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13041545G>A	uc002mvs.2	-	2	214	c.166C>T	c.(166-168)CGG>TGG	p.R56W	FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.R56W|FARSA_uc010dyy.1_Intron	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	56					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)													---	---	---	---
NFIX	4784	broad.mit.edu	37	19	13201132	13201132	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13201132C>T	uc010xmx.1	+	10	1499	c.1446C>T	c.(1444-1446)GCC>GCT	p.A482A	NFIX_uc002mwd.2_Missense_Mutation_p.P425L|NFIX_uc002mwe.2_Missense_Mutation_p.P417L|NFIX_uc002mwf.2_Missense_Mutation_p.P387L|NFIX_uc002mwg.1_Missense_Mutation_p.P424L			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	474					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)															---	---	---	---
PODNL1	79883	broad.mit.edu	37	19	14045127	14045127	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14045127G>A	uc002mxr.2	-	6	886	c.612C>T	c.(610-612)AAC>AAT	p.N204N	PODNL1_uc010xni.1_Silent_p.N122N|PODNL1_uc010xnj.1_Silent_p.N202N|PODNL1_uc002mxs.2_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	204	Leu-rich.|LRR 6.					proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)															---	---	---	---
RFX1	5989	broad.mit.edu	37	19	14080843	14080843	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14080843C>T	uc002mxv.2	-	10	1731	c.1459G>A	c.(1459-1461)GTC>ATC	p.V487I	RFX1_uc010dzi.2_Missense_Mutation_p.V487I	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	487	RFX-type winged-helix.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)															---	---	---	---
CYP4F22	126410	broad.mit.edu	37	19	15648801	15648801	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15648801A>G	uc002nbh.3	+	7	835	c.668A>G	c.(667-669)CAA>CGA	p.Q223R		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	223						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2																		---	---	---	---
OR10H5	284433	broad.mit.edu	37	19	15905282	15905282	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15905282A>G	uc010xos.1	+	1	424	c.424A>G	c.(424-426)ACC>GCC	p.T142A		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR10H1	26539	broad.mit.edu	37	19	15918435	15918435	+	Missense_Mutation	SNP	G	A	A	rs143282709		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15918435G>A	uc002nbq.2	-	1	502	c.413C>T	c.(412-414)CCG>CTG	p.P138L		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16279006	16279006	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16279006G>A	uc002nds.2	-	4	288	c.288C>T	c.(286-288)TCC>TCT	p.S96S	CIB3_uc010eae.2_Silent_p.S35S|CIB3_uc010eaf.2_Intron|CIB3_uc010eag.2_Silent_p.S47S	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	DNA-dependent protein kinase catalytic	96	EF-hand 1.						calcium ion binding			ovary(1)	1																		---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16652696	16652696	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16652696G>T	uc002nei.1	-	2	258	c.184C>A	c.(184-186)CTG>ATG	p.L62M	MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Missense_Mutation_p.L30M	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	62					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2																		---	---	---	---
F2RL3	9002	broad.mit.edu	37	19	17001150	17001150	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17001150C>T	uc002nfa.2	+	2	1051	c.876C>T	c.(874-876)GCC>GCT	p.A292A		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	292	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity				0																		---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17487777	17487777	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17487777G>A	uc002ngk.1	-	1	371	c.321C>T	c.(319-321)CGC>CGT	p.R107R		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	107	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0																		---	---	---	---
FKBP8	23770	broad.mit.edu	37	19	18650477	18650477	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18650477G>A	uc002njk.1	-	3	459	c.346C>T	c.(346-348)CGC>TGC	p.R116C	FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Missense_Mutation_p.R145C|FKBP8_uc002njj.1_Missense_Mutation_p.R116C|FKBP8_uc002njl.1_Missense_Mutation_p.R116C|FKBP8_uc002njm.1_Missense_Mutation_p.R116C|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	116					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																		---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18778937	18778937	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18778937G>A	uc002njz.1	+	3	757	c.730G>A	c.(730-732)GCC>ACC	p.A244T		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	244	BACK.									ovary(1)	1																		---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18964115	18964115	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18964115C>T	uc002nkg.2	+	8	1420	c.1145C>T	c.(1144-1146)GCG>GTG	p.A382V	UPF1_uc002nkf.2_Missense_Mutation_p.A371V	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	382	Sufficient for interaction with RENT2.				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																		---	---	---	---
ARMC6	93436	broad.mit.edu	37	19	19162542	19162542	+	Missense_Mutation	SNP	G	A	A	rs145390530	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19162542G>A	uc002nld.2	+	5	739	c.391G>A	c.(391-393)GCG>ACG	p.A131T	ARMC6_uc002nlc.2_Missense_Mutation_p.A106T|ARMC6_uc010xql.1_Missense_Mutation_p.A38T|ARMC6_uc002nle.2_Missense_Mutation_p.A106T|ARMC6_uc010xqm.1_Missense_Mutation_p.A131T	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	131							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)															---	---	---	---
ARMC6	93436	broad.mit.edu	37	19	19168579	19168579	+	3'UTR	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19168579C>T	uc002nld.2	+	9					ARMC6_uc002nlc.2_3'UTR|ARMC6_uc010xql.1_Intron|ARMC6_uc002nle.2_3'UTR|ARMC6_uc010xqm.1_3'UTR	NM_033415	NP_219483			armadillo repeat containing 6								protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)															---	---	---	---
GATAD2A	54815	broad.mit.edu	37	19	19613277	19613277	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19613277C>T	uc010xqt.1	+	11	2025	c.1713C>T	c.(1711-1713)ACC>ACT	p.T571T	GATAD2A_uc010xqu.1_Silent_p.T200T|GATAD2A_uc010xqv.1_Silent_p.T591T|GATAD2A_uc010xqw.1_Silent_p.T374T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	571					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																		---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21476609	21476609	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21476609T>C	uc002npq.1	-	4	1357	c.1159A>G	c.(1159-1161)ACT>GCT	p.T387A	ZNF708_uc002npr.1_Missense_Mutation_p.T323A|ZNF708_uc010ecs.1_Missense_Mutation_p.T323A	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6																		---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21588062	21588062	+	Intron	SNP	G	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21588062G>C	uc002npx.2	+						ZNF493_uc002npu.2_Intron|ZNF493_uc002npw.2_Intron|ZNF493_uc002npy.2_Intron	NM_175910	NP_787106			zinc finger protein 493 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155740	22155740	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22155740C>T	uc002nqp.2	-	5	1945	c.1796G>A	c.(1795-1797)GGC>GAC	p.G599D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)																---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544326	23544326	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23544326A>G	uc002nre.2	-	4	1568	c.1455T>C	c.(1453-1455)ACT>ACC	p.T485T	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.T453T	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	485						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)																---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039848	31039848	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31039848C>A	uc002nsu.1	+	4	3460	c.3322C>A	c.(3322-3324)CCA>ACA	p.P1108T	ZNF536_uc010edd.1_Missense_Mutation_p.P1108T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1108					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)																	---	---	---	---
GAPDHS	26330	broad.mit.edu	37	19	36034314	36034314	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36034314C>T	uc002oaf.1	+	8	930	c.814C>T	c.(814-816)CGG>TGG	p.R272W	uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	272					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	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)		NADH(DB00157)													---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36214078	36214078	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36214078C>T	uc010eei.2	+	6	2904	c.2904C>T	c.(2902-2904)CAC>CAT	p.H968H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	968	CXXC-type.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
ZNF420	147923	broad.mit.edu	37	19	37619350	37619350	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37619350G>A	uc002ofl.2	+	5	1672	c.1457G>A	c.(1456-1458)CGT>CAT	p.R486H		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	486	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38939141	38939141	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38939141G>A	uc002oit.2	+	10	1077	c.947G>A	c.(946-948)CGC>CAC	p.R316H	RYR1_uc002oiu.2_Missense_Mutation_p.R316H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	316	MIR 4.|Cytoplasmic.				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)													---	---	---	---
ZNF546	339327	broad.mit.edu	37	19	40520059	40520059	+	Missense_Mutation	SNP	A	G	G	rs17653956		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40520059A>G	uc002oms.2	+	7	1138	c.882A>G	c.(880-882)ATA>ATG	p.I294M	ZNF546_uc002omt.2_Missense_Mutation_p.I268M	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	294	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40581329	40581329	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40581329C>A	uc002omy.2	-	6	1245	c.1020G>T	c.(1018-1020)AAG>AAT	p.K340N	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.K340N|ZNF780A_uc010xvh.1_Missense_Mutation_p.K341N	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	340	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41515274	41515274	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41515274G>A	uc002opr.1	+	5	803	c.796G>A	c.(796-798)GAC>AAC	p.D266N	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	266					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)													---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41928571	41928571	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41928571C>T	uc002oqq.2	+	7	920	c.891C>T	c.(889-891)CGC>CGT	p.R297R	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.R331R|BCKDHA_uc002oqp.1_Silent_p.R189R|BCKDHA_uc002oqr.2_Silent_p.R296R|BCKDHA_uc010xvz.1_Silent_p.R275R	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	297					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0																		---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42221555	42221555	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42221555A>G	uc002ork.2	+	5	1261	c.1140A>G	c.(1138-1140)CTA>CTG	p.L380L	CEACAM5_uc002orj.1_Silent_p.L379L|CEACAM5_uc002orl.2_Silent_p.L380L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	380	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)														---	---	---	---
CIC	23152	broad.mit.edu	37	19	42791776	42791776	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42791776G>A	uc002otf.1	+	5	702	c.662G>A	c.(661-663)CGT>CAT	p.R221H		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	221	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)						T	DUX4	soft tissue sarcoma								---	---	---	---
PRR19	284338	broad.mit.edu	37	19	42814088	42814088	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42814088C>A	uc002oti.2	+	2	730	c.352C>A	c.(352-354)CCA>ACA	p.P118T	PRR19_uc002oth.1_Missense_Mutation_p.P118T|PRR19_uc002otj.2_Missense_Mutation_p.P118T	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	118											0		Prostate(69;0.00682)																---	---	---	---
XRCC1	7515	broad.mit.edu	37	19	44056177	44056177	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44056177C>T	uc002owt.2	-	9	1194	c.1074G>A	c.(1072-1074)ACG>ACA	p.T358T	XRCC1_uc010xwp.1_Silent_p.T327T	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	358	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)											Other_BER_factors					---	---	---	---
ZNF234	10780	broad.mit.edu	37	19	44660800	44660800	+	Nonsense_Mutation	SNP	A	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44660800A>T	uc002oym.2	+	6	938	c.631A>T	c.(631-633)AAG>TAG	p.K211*	ZNF234_uc002oyl.3_Nonsense_Mutation_p.K211*	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	211	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)																---	---	---	---
ZNF226	7769	broad.mit.edu	37	19	44680402	44680402	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44680402C>T	uc002oyp.2	+	6	1131	c.987C>T	c.(985-987)CAC>CAT	p.H329H	ZNF226_uc002oyq.2_Silent_p.H212H|ZNF226_uc002oyr.2_Silent_p.H212H|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.H329H|ZNF226_uc002oyt.2_Silent_p.H329H	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	329	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)																---	---	---	---
ZNF235	9310	broad.mit.edu	37	19	44792700	44792700	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44792700A>G	uc002oza.3	-	5	991	c.888T>C	c.(886-888)CAT>CAC	p.H296H	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.H292H|ZNF235_uc010xwx.1_Silent_p.H210H	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)																---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45490487	45490487	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45490487A>G	uc002pai.2	+	8	859	c.844A>G	c.(844-846)AAT>GAT	p.N282D	CLPTM1_uc010ejv.1_Missense_Mutation_p.N180D|CLPTM1_uc010xxf.1_Missense_Mutation_p.N180D|CLPTM1_uc010xxg.1_Missense_Mutation_p.N268D	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	282	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)														---	---	---	---
PPP1R13L	10848	broad.mit.edu	37	19	45899977	45899977	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45899977G>A	uc002pbn.2	-	4	615	c.538C>T	c.(538-540)CGC>TGC	p.R180C	PPP1R13L_uc002pbo.2_Missense_Mutation_p.R180C|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R180C	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	180	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)														---	---	---	---
FKRP	79147	broad.mit.edu	37	19	47259842	47259842	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47259842C>T	uc002pfn.2	+	4	1432	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	FKRP_uc002pfp.2_Missense_Mutation_p.R379W	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	fukutin-related protein	379						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			pancreas(1)	1		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)														---	---	---	---
NPAS1	4861	broad.mit.edu	37	19	47535965	47535965	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47535965T>C	uc002pfw.2	+	5	693	c.497T>C	c.(496-498)GTC>GCC	p.V166A	NPAS1_uc002pfx.2_5'UTR|NPAS1_uc002pfy.2_Missense_Mutation_p.V166A|NPAS1_uc010xyj.1_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	166	PAS 1.				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)												OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47569698	47569698	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47569698G>A	uc002pga.3	-	15	3865	c.3827C>T	c.(3826-3828)CCG>CTG	p.P1276L	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1276							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)														---	---	---	---
TPRX1	284355	broad.mit.edu	37	19	48305502	48305502	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48305502G>A	uc002php.1	-	2	837	c.766C>T	c.(766-768)CCA>TCA	p.P256S		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	256	Gly-rich.					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)														---	---	---	---
IL4I1	259307	broad.mit.edu	37	19	50399160	50399160	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50399160C>A	uc002pqt.1	-	3	242	c.164G>T	c.(163-165)CGG>CTG	p.R55L	IL4I1_uc002pqv.1_Missense_Mutation_p.R64L|IL4I1_uc010eno.1_Missense_Mutation_p.R63L|IL4I1_uc002pqw.1_Missense_Mutation_p.R63L|IL4I1_uc002pqu.1_Missense_Mutation_p.R77L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	55						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)														---	---	---	---
SIGLEC10	89790	broad.mit.edu	37	19	51914440	51914440	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51914440C>T	uc002pwo.2	-	11	2623	c.2007G>A	c.(2005-2007)ACG>ACA	p.T669T	SIGLEC10_uc002pwp.2_Silent_p.T611T|SIGLEC10_uc002pwq.2_Silent_p.T516T|SIGLEC10_uc002pwr.2_Silent_p.T574T|SIGLEC10_uc010ycy.1_Silent_p.T484T|SIGLEC10_uc010ycz.1_Silent_p.T526T|SIGLEC10_uc010eow.2_Silent_p.T386T	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	669	ITIM motif 2.|Cytoplasmic (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)														---	---	---	---
MYADM	91663	broad.mit.edu	37	19	54377349	54377349	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54377349C>T	uc002qcl.2	+	3	714	c.566C>T	c.(565-567)GCG>GTG	p.A189V	MYADM_uc002qcm.2_Missense_Mutation_p.A189V|MYADM_uc002qcn.2_Missense_Mutation_p.A189V|MYADM_uc002qco.2_Missense_Mutation_p.A189V|MYADM_uc002qcp.2_Missense_Mutation_p.A189V	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	189	MARVEL 2.|Helical; (Potential).					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)														---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54965667	54965667	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54965667C>T	uc002qfv.1	+	5	518	c.374C>T	c.(373-375)CCG>CTG	p.P125L	LENG8_uc002qfw.2_Missense_Mutation_p.P162L			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	125							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)														---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55087381	55087381	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55087381C>A	uc002qgg.3	+	6	1149	c.1060C>A	c.(1060-1062)CTT>ATT	p.L354I	LILRA2_uc010ern.2_Missense_Mutation_p.L354I|LILRA2_uc002qgf.2_Missense_Mutation_p.L354I|LILRA2_uc010yfe.1_Missense_Mutation_p.L354I|LILRA2_uc010yff.1_Missense_Mutation_p.L342I|LILRA2_uc010ero.2_Missense_Mutation_p.L342I|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	354	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)														---	---	---	---
U2AF2	11338	broad.mit.edu	37	19	56185292	56185292	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56185292C>T	uc002qlu.2	+						U2AF2_uc002qlt.2_Intron|EPN1_uc002qlw.2_5'Flank|EPN1_uc002qlv.2_5'Flank|EPN1_uc010etd.2_5'Flank|EPN1_uc002qlx.2_5'Flank	NM_007279	NP_009210			U2 (RNU2) small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)														---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56465980	56465980	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56465980G>A	uc002qmh.2	+	3	627	c.556G>A	c.(556-558)GAG>AAG	p.E186K	NLRP8_uc010etg.2_Missense_Mutation_p.E186K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	186						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56477621	56477621	+	Silent	SNP	C	T	T	rs61740147	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56477621C>T	uc002qmh.2	+	5	2327	c.2256C>T	c.(2254-2256)ATC>ATT	p.I752I	NLRP8_uc010etg.2_Silent_p.I752I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	752						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)														---	---	---	---
ZNF787	126208	broad.mit.edu	37	19	56600174	56600174	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56600174C>T	uc010eth.1	-	3	486	c.367G>A	c.(367-369)GCC>ACC	p.A123T		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	123	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)														---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56969550	56969550	+	Missense_Mutation	SNP	T	A	A	rs139445582		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56969550T>A	uc002qnd.2	-	4	389	c.227A>T	c.(226-228)GAG>GTG	p.E76V	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.E76V|ZNF667_uc010etm.2_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)														---	---	---	---
ZNF460	10794	broad.mit.edu	37	19	57802483	57802483	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57802483C>T	uc002qog.2	+	3	896	c.574C>T	c.(574-576)CGT>TGT	p.R192C	ZNF460_uc010ygv.1_Missense_Mutation_p.R151C	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
A1BG	1	broad.mit.edu	37	19	58868867	58868867	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58868867C>T	uc002qsf.1	-						ZNF497_uc002qsh.1_Silent_p.T45T|ZNF497_uc002qsi.1_Silent_p.T45T|uc002qsj.1_Missense_Mutation_p.R80C|uc002qsk.1_5'Flank					Homo sapiens primary hepatoblastoma mRNA for alpha-1-B glycoprotein precursor, partial cds, clone:HYST2477.							extracellular region					0		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2378642	2378642	+	Missense_Mutation	SNP	G	A	A	rs61743614	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2378642G>A	uc002wfy.1	+	5	683	c.622G>A	c.(622-624)GTG>ATG	p.V208M	TGM6_uc010gal.1_Missense_Mutation_p.V208M	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	208					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)													---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2635586	2635586	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2635586C>T	uc002wgh.2	+	5	615	c.562C>T	c.(562-564)CGT>TGT	p.R188C	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.R22C|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	188					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2																		---	---	---	---
CENPB	1059	broad.mit.edu	37	20	3765853	3765853	+	Missense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3765853C>A	uc002wjk.2	-	1	1485	c.1278G>T	c.(1276-1278)GAG>GAT	p.E426D	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	426	Glu-rich (acidic).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0																		---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7866347	7866347	+	Intron	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:7866347A>G	uc002wmw.1	-						HAO1_uc010gbu.2_Intron	NM_017545	NP_060015			hydroxyacid oxidase 1						cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3																		---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9449312	9449312	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:9449312C>T	uc002wnf.2	+	34	3443	c.3307C>T	c.(3307-3309)CGG>TGG	p.R1103W	PLCB4_uc010gbx.2_Missense_Mutation_p.R1115W|PLCB4_uc002wne.2_Missense_Mutation_p.R1103W|PLCB4_uc002wnh.2_Missense_Mutation_p.R950W	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	1103					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15																		---	---	---	---
C20orf12	55184	broad.mit.edu	37	20	18365044	18365044	+	Nonstop_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18365044T>C	uc010zsa.1	-	21	2524	c.2315A>G	c.(2314-2316)TAG>TGG	p.*772W	C20orf12_uc010zrz.1_Nonstop_Mutation_p.*291W|C20orf12_uc002wqp.3_Nonstop_Mutation_p.*463W|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Nonstop_Mutation_p.*639W|C20orf12_uc002wqq.3_Nonstop_Mutation_p.*753W	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	772						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)																---	---	---	---
ACSS1	84532	broad.mit.edu	37	20	25038512	25038512	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25038512A>G	uc002wub.2	-	1	1105	c.227T>C	c.(226-228)CTG>CCG	p.L76P	ACSS1_uc002wuc.2_Missense_Mutation_p.L76P|ACSS1_uc010gdc.2_Missense_Mutation_p.L76P	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	76					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
MYLK2	85366	broad.mit.edu	37	20	30419926	30419926	+	Missense_Mutation	SNP	A	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30419926A>T	uc002wwq.2	+	12	1799	c.1697A>T	c.(1696-1698)AAG>ATG	p.K566M	MYLK2_uc002wws.2_Missense_Mutation_p.K183M|MYLK2_uc010gdw.1_RNA	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	566					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
TTLL9	164395	broad.mit.edu	37	20	30497561	30497561	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30497561G>A	uc010gdx.1	+	6	593	c.340G>A	c.(340-342)GTG>ATG	p.V114M	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	114	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30730868	30730868	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30730868C>T	uc002wxj.2	+	6	847	c.612C>T	c.(610-612)GTC>GTT	p.V204V	TM9SF4_uc010ztr.1_Silent_p.V130V|TM9SF4_uc010zts.1_Silent_p.V111V|TM9SF4_uc002wxk.2_Silent_p.V187V|TM9SF4_uc010gdz.2_Silent_p.V111V	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	204						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)															---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30734633	30734633	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30734633C>T	uc002wxj.2	+	9	1164	c.929C>T	c.(928-930)GCC>GTC	p.A310V	TM9SF4_uc010ztr.1_Missense_Mutation_p.A236V|TM9SF4_uc010zts.1_Missense_Mutation_p.A217V|TM9SF4_uc002wxk.2_Missense_Mutation_p.A293V|TM9SF4_uc010gdz.2_Missense_Mutation_p.A217V	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	310						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)															---	---	---	---
CBFA2T2	9139	broad.mit.edu	37	20	32232401	32232401	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32232401G>A	uc002wzg.1	+	12	2301	c.1764G>A	c.(1762-1764)TCG>TCA	p.S588S	CBFA2T2_uc010zug.1_Silent_p.S362S|CBFA2T2_uc002wze.1_Silent_p.S579S|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.S559S|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.S136S	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	588						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2																		---	---	---	---
RALY	22913	broad.mit.edu	37	20	32660136	32660136	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32660136G>T	uc002xab.2	+	3	554	c.256G>T	c.(256-258)GAC>TAC	p.D86Y	RALY_uc010zui.1_Missense_Mutation_p.D86Y|RALY_uc002xac.2_Missense_Mutation_p.D86Y|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.D86Y	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	86	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
RALY	22913	broad.mit.edu	37	20	32664877	32664877	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32664877C>T	uc002xab.2	+	8	1000	c.702C>T	c.(700-702)GGC>GGT	p.G234G	RALY_uc002xac.2_Silent_p.G218G|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Silent_p.G234G	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	234	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
EIF2S2	8894	broad.mit.edu	37	20	32686298	32686298	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32686298C>T	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																		---	---	---	---
PHF20	51230	broad.mit.edu	37	20	34526919	34526919	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34526919G>A	uc002xek.1	+	16	2712	c.2601G>A	c.(2599-2601)GCG>GCA	p.A867A		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	867					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)																	---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34785928	34785928	+	Missense_Mutation	SNP	C	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34785928C>G	uc002xfb.2	+	14	1804	c.1633C>G	c.(1633-1635)CCC>GCC	p.P545A	EPB41L1_uc002xeu.2_Missense_Mutation_p.P471A|EPB41L1_uc010zvo.1_Missense_Mutation_p.P545A|EPB41L1_uc002xev.2_Missense_Mutation_p.P545A|EPB41L1_uc002xew.2_Missense_Mutation_p.P436A|EPB41L1_uc002xex.2_Missense_Mutation_p.P502A|EPB41L1_uc002xey.2_Missense_Mutation_p.P460A|EPB41L1_uc002xez.2_Missense_Mutation_p.P471A|EPB41L1_uc010gfq.2_5'UTR	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	545					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)																	---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39798904	39798904	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39798904G>A	uc002xjp.1	+	24	2924	c.2803G>A	c.(2803-2805)GCC>ACC	p.A935T	PLCG1_uc002xjo.1_Missense_Mutation_p.A935T|PLCG1_uc010zwe.1_Missense_Mutation_p.A561T|PLCG1_uc010ggf.2_Missense_Mutation_p.A259T	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	935					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)																---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40081514	40081514	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40081514G>A	uc002xka.1	-	21	3367	c.3189C>T	c.(3187-3189)GAC>GAT	p.D1063D		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1063					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)																---	---	---	---
TOX2	84969	broad.mit.edu	37	20	42693445	42693445	+	Intron	SNP	A	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42693445A>C	uc002xlf.3	+						TOX2_uc010ggo.2_Missense_Mutation_p.K303T|TOX2_uc002xle.3_Missense_Mutation_p.K261T|TOX2_uc010ggp.2_Missense_Mutation_p.K261T|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Missense_Mutation_p.K181T	NM_001098798	NP_001092268			TOX high mobility group box family member 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
SPINLW1	57119	broad.mit.edu	37	20	44171359	44171359	+	Missense_Mutation	SNP	A	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44171359A>C	uc002xou.2	-	3	403	c.371T>G	c.(370-372)CTG>CGG	p.L124R	SPINLW1_uc010zxc.1_Missense_Mutation_p.L124R|SPINLW1_uc002xot.2_Missense_Mutation_p.L108R|SPINLW1_uc002xov.1_3'UTR	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	124	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44581359	44581359	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44581359G>A	uc002xqw.2	-						ZNF335_uc002xqv.2_Intron|ZNF335_uc010zxk.1_Intron	NM_022095	NP_071378			zinc finger protein 335						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)																---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47592562	47592562	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47592562G>T	uc002xtx.3	+	14	1936	c.1784G>T	c.(1783-1785)AGG>ATG	p.R595M		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	595					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47630237	47630237	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47630237C>T	uc002xtx.3	+						ARFGEF2_uc010zyf.1_Intron	NM_006420	NP_006411			ADP-ribosylation factor guanine						exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---
STAU1	6780	broad.mit.edu	37	20	47734557	47734557	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47734557G>A	uc002xud.2	-	11	1677	c.1266C>T	c.(1264-1266)CCC>CCT	p.P422P	STAU1_uc002xua.2_Silent_p.P341P|STAU1_uc002xub.2_Silent_p.P347P|STAU1_uc002xuc.2_Silent_p.P341P|STAU1_uc002xue.2_Silent_p.P341P|STAU1_uc002xuf.2_Silent_p.P347P|STAU1_uc002xug.2_Silent_p.P422P	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	422						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)															---	---	---	---
PARD6B	84612	broad.mit.edu	37	20	49354499	49354499	+	Missense_Mutation	SNP	G	A	A	rs142377445		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49354499G>A	uc002xvo.2	+	2	415	c.172G>A	c.(172-174)GTT>ATT	p.V58I		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	58	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1																		---	---	---	---
ADNP	23394	broad.mit.edu	37	20	49510515	49510515	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49510515G>A	uc002xvt.1	-	5	1081	c.736C>T	c.(736-738)CGT>TGT	p.R246C	ADNP_uc002xvu.1_Missense_Mutation_p.R246C	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	246						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2																		---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50346505	50346505	+	Nonsense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50346505C>T	uc002xwg.1	-	2	81	c.81G>A	c.(79-81)TGG>TGA	p.W27*	ATP9A_uc010gih.1_Nonsense_Mutation_p.W12*	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	27	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			ovary(4)	4																		---	---	---	---
CSTF1	1477	broad.mit.edu	37	20	54974190	54974190	+	Missense_Mutation	SNP	T	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:54974190T>A	uc002xxl.1	+	5	1013	c.813T>A	c.(811-813)AAT>AAA	p.N271K	CSTF1_uc002xxm.1_Missense_Mutation_p.N271K|CSTF1_uc002xxn.1_Missense_Mutation_p.N271K|CSTF1_uc002xxo.1_Missense_Mutation_p.N214K	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	271	WD 4.				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)															---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58420272	58420272	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58420272A>G	uc002yau.2	+	12	2083	c.1616A>G	c.(1615-1617)TAC>TGC	p.Y539C	PHACTR3_uc002yat.2_Missense_Mutation_p.Y536C|PHACTR3_uc010zzw.1_Missense_Mutation_p.Y498C|PHACTR3_uc002yav.2_Missense_Mutation_p.Y498C|PHACTR3_uc002yaw.2_Missense_Mutation_p.Y498C|PHACTR3_uc002yax.2_Missense_Mutation_p.Y428C|PHACTR3_uc002yay.2_Missense_Mutation_p.Y108C	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	539						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)															---	---	---	---
PPP1R3D	5509	broad.mit.edu	37	20	58514392	58514392	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58514392C>T	uc002ybb.2	-	1	961	c.595G>A	c.(595-597)GCC>ACC	p.A199T	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	199	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)															---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60509202	60509202	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60509202C>T	uc002ybn.1	+	15	2482	c.2468C>T	c.(2467-2469)CCG>CTG	p.P823L	CDH4_uc002ybp.1_Missense_Mutation_p.P749L	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	823	Cytoplasmic (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)															---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60551346	60551346	+	Missense_Mutation	SNP	T	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60551346T>G	uc002ybs.2	-	15	3136	c.3136A>C	c.(3136-3138)ACC>CCC	p.T1046P		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	1046					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)															---	---	---	---
SLC17A9	63910	broad.mit.edu	37	20	61597087	61597087	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61597087G>A	uc002yea.3	+						SLC17A9_uc002ydz.3_Intron|SLC17A9_uc011aap.1_Intron	NM_022082	NP_071365			vesicular nucleotide transporter SLC17A9						exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
GMEB2	26205	broad.mit.edu	37	20	62223391	62223391	+	Silent	SNP	G	A	A	rs145663342		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62223391G>A	uc002yfp.1	-	8	1415	c.936C>T	c.(934-936)TAC>TAT	p.Y312Y	GMEB2_uc002yfo.1_Silent_p.Y234Y|GMEB2_uc002yfq.1_Silent_p.Y312Y	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	312	Potential.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)															---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62421759	62421759	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62421759C>T	uc002ygv.1	-	2	553	c.352G>A	c.(352-354)GTG>ATG	p.V118M	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)																	---	---	---	---
MIRLET7C	406885	broad.mit.edu	37	21	17912163	17912163	+	RNA	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17912163T>C	hsa-let-7c|MI0000064	+			c.16T>C			C21orf34_uc002ykb.2_Intron|C21orf34_uc010glc.2_Intron|C21orf34_uc002ykc.2_Intron|uc002yke.2_RNA																	0																		---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22849643	22849643	+	Missense_Mutation	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:22849643A>G	uc002yld.1	+	15	2177	c.1928A>G	c.(1927-1929)AAA>AGA	p.K643R	NCAM2_uc011acb.1_Missense_Mutation_p.K501R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	643	Fibronectin type-III 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)														---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22881367	22881367	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:22881367C>T	uc002yld.1	+	16	2522	c.2273C>T	c.(2272-2274)GCT>GTT	p.A758V	NCAM2_uc011acb.1_Missense_Mutation_p.A616V	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	758	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)														---	---	---	---
RNF160	26046	broad.mit.edu	37	21	30339315	30339315	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30339315C>T	uc002ymr.2	-	10	1649	c.1636G>A	c.(1636-1638)GCG>ACG	p.A546T	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	500							ligase activity|zinc ion binding				0																		---	---	---	---
KRTAP19-4	337971	broad.mit.edu	37	21	31869351	31869351	+	Silent	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31869351G>T	uc011acz.1	-	1	78	c.78C>A	c.(76-78)GGC>GGA	p.G26G		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	26						intermediate filament				ovary(2)	2																		---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32496898	32496898	+	Silent	SNP	A	G	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32496898A>G	uc002yow.1	-	28	4720	c.4248T>C	c.(4246-4248)CCT>CCC	p.P1416P	TIAM1_uc011adk.1_Silent_p.P1416P|TIAM1_uc011adl.1_Silent_p.P1356P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1416					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	33074699	33074699	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33074699C>T	uc002ypd.2	-						SFRS15_uc002ype.2_Intron|SFRS15_uc010glu.2_Intron|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Intron	NM_020706	NP_065757			splicing factor, arginine/serine-rich 15 isoform							nucleus	nucleotide binding|RNA binding				0																		---	---	---	---
GART	2618	broad.mit.edu	37	21	34889350	34889350	+	Nonsense_Mutation	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34889350C>A	uc002yrx.2	-	16	2188	c.2053G>T	c.(2053-2055)GGA>TGA	p.G685*	GART_uc002yrz.2_Nonsense_Mutation_p.G685*|GART_uc010gmd.2_Nonsense_Mutation_p.G347*|GART_uc002yry.2_Nonsense_Mutation_p.G685*	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	685	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)													---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35209291	35209291	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35209291G>A	uc002yta.1	+						DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.*1145*|ITSN1_uc010gmg.2_Silent_p.*1108*|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.*1221*|ITSN1_uc010gmi.2_Silent_p.*1184*|ITSN1_uc010gmj.2_Silent_p.*1100*|ITSN1_uc002ysy.2_Silent_p.*1216*|ITSN1_uc002ysx.2_Silent_p.*1179*|ITSN1_uc002ytb.1_Intron|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.*1113*|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.2_Silent_p.*1084*|ITSN1_uc002yti.1_Intron	NM_003024	NP_003015			intersectin 1 isoform ITSN-l						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4																		---	---	---	---
RUNX1	861	broad.mit.edu	37	21	36164838	36164838	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:36164838C>T	uc002yuh.2	-	6	2534	c.956G>A	c.(955-957)CGC>CAC	p.R319H	RUNX1_uc002yui.2_Missense_Mutation_p.R255H|RUNX1_uc010gmu.2_Missense_Mutation_p.R346H|RUNX1_uc010gmv.2_Missense_Mutation_p.R346H|RUNX1_uc002yuj.3_Missense_Mutation_p.R214H|RUNX1_uc002yuk.3_Missense_Mutation_p.R346H	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	319	Interaction with MYST3.|Interaction with MYST4 (By similarity).|Pro/Ser/Thr-rich.			Missing: No DNA-binding.	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.R346fs*137(2)		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				---	---	---	---
B3GALT5	10317	broad.mit.edu	37	21	41032654	41032654	+	Silent	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41032654T>C	uc002yyb.1	+	5	760	c.168T>C	c.(166-168)CCT>CCC	p.P56P	B3GALT5_uc002yye.2_Silent_p.P56P|B3GALT5_uc002yyi.1_Silent_p.P56P|B3GALT5_uc002yyj.1_Silent_p.P56P|B3GALT5_uc002yyk.1_Silent_p.P56P|B3GALT5_uc002yyl.1_Silent_p.P56P|B3GALT5_uc002yym.1_Silent_p.P56P	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	56	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1		Prostate(19;2.55e-06)																---	---	---	---
IGSF5	150084	broad.mit.edu	37	21	41137655	41137655	+	Silent	SNP	C	T	T	rs143029603	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41137655C>T	uc002yyo.2	+	3	397	c.294C>T	c.(292-294)TAC>TAT	p.Y98Y		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	98	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)																---	---	---	---
MX2	4600	broad.mit.edu	37	21	42762585	42762585	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42762585C>T	uc002yzf.1	+	6	930	c.826C>T	c.(826-828)CTG>TTG	p.L276L	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	276					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)																---	---	---	---
MX1	4599	broad.mit.edu	37	21	42821193	42821193	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42821193C>T	uc002yzh.2	+	16	2350	c.1403C>T	c.(1402-1404)CCG>CTG	p.P468L	MX1_uc002yzi.2_Missense_Mutation_p.P468L|MX1_uc010goq.2_Missense_Mutation_p.P468L	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	468					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)																---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43519071	43519071	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43519071G>A	uc002zaf.1	+	7	967	c.967G>A	c.(967-969)GTC>ATC	p.V323I	UMODL1_uc002zad.1_Missense_Mutation_p.V251I|UMODL1_uc002zae.1_Missense_Mutation_p.V251I|UMODL1_uc002zag.1_Missense_Mutation_p.V323I|UMODL1_uc010gow.1_Missense_Mutation_p.V115I|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.V68I	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	323	Extracellular (Potential).|Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
POFUT2	23275	broad.mit.edu	37	21	46697010	46697010	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46697010G>A	uc002zhc.2	-	6	778	c.753C>T	c.(751-753)GAC>GAT	p.D251D	POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.D251D	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	251					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)														---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46925087	46925087	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46925087C>T	uc011afs.1	+	35	4165	c.4144C>T	c.(4144-4146)CCT>TCT	p.P1382S	COL18A1_uc002zhg.2_Missense_Mutation_p.P967S|COL18A1_uc002zhi.2_Missense_Mutation_p.P1147S|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1385	Triple-helical region 9 (COL9).				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)														---	---	---	---
TUBA8	51807	broad.mit.edu	37	22	18604386	18604386	+	Silent	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18604386C>A	uc002znv.1	+	2	217	c.144C>A	c.(142-144)TCC>TCA	p.S48S	TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Silent_p.S72S|TUBA8_uc002znu.1_Silent_p.S48S	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	48					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0																		---	---	---	---
DGCR2	9993	broad.mit.edu	37	22	19052470	19052470	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19052470G>A	uc002zoq.1	-	4	687	c.439C>T	c.(439-441)CGC>TGC	p.R147C	DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.R103C	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	147	Extracellular (Potential).|C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)																	---	---	---	---
TBX1	6899	broad.mit.edu	37	22	19752515	19752515	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19752515G>A	uc002zqb.2	+	6	848	c.719G>A	c.(718-720)CGC>CAC	p.R240H	TBX1_uc002zqa.1_Missense_Mutation_p.R240H|TBX1_uc002zqc.2_Missense_Mutation_p.R240H	NM_080646	NP_542377	O43435	TBX1_HUMAN	T-box 1 isoform A	240	T-box.				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)	2	Colorectal(54;0.0993)	all_lung(157;3.05e-06)																---	---	---	---
ARVCF	421	broad.mit.edu	37	22	19969123	19969123	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19969123C>T	uc002zqz.2	-	5	778	c.507G>A	c.(505-507)CTG>CTA	p.L169L	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Silent_p.L169L	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	169					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)																	---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20800825	20800825	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20800825G>A	uc002zsl.1	-	6	1553	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	KLHL22_uc011ahr.1_Missense_Mutation_p.R339W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	482	Kelch 4.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---
HIC2	23119	broad.mit.edu	37	22	21799242	21799242	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21799242G>T	uc002zur.3	+	3	288	c.58G>T	c.(58-60)GGG>TGG	p.G20W	HIC2_uc002zus.3_Missense_Mutation_p.G20W	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	20					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)																---	---	---	---
HIC2	23119	broad.mit.edu	37	22	21799520	21799520	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21799520C>T	uc002zur.3	+	3	566	c.336C>T	c.(334-336)GCC>GCT	p.A112A	HIC2_uc002zus.3_Silent_p.A112A	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	112					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)																---	---	---	---
PPM1F	9647	broad.mit.edu	37	22	22280022	22280022	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22280022C>T	uc002zvp.1	-	7	1019	c.905G>A	c.(904-906)CGC>CAC	p.R302H	PPM1F_uc011aik.1_Missense_Mutation_p.R198H|PPM1F_uc002zvq.2_Missense_Mutation_p.R302H	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	302					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)														---	---	---	---
BCR	613	broad.mit.edu	37	22	23632521	23632521	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23632521C>T	uc002zww.2	+						BCR_uc002zwx.2_Intron|BCR_uc011aiy.1_Intron|BCR_uc002zwy.1_3'UTR	NM_004327	NP_004318			breakpoint cluster region isoform 1						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						OREG0026390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SMARCB1	6598	broad.mit.edu	37	22	24134085	24134085	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24134085C>T	uc002zyb.2	+						SMARCB1_uc002zyg.2_Intron|SMARCB1_uc011ajb.1_Intron|SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Intron|SMARCB1_uc002zyd.2_Intron|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064			SWI/SNF related, matrix associated, actin						cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)						D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis				---	---	---	---
PISD	23761	broad.mit.edu	37	22	32015604	32015604	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32015604C>T	uc003alm.3	-	8	1231	c.1224G>A	c.(1222-1224)TCG>TCA	p.S408S	PISD_uc003alk.2_Silent_p.S374S|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Silent_p.S373S|PISD_uc003aln.3_Silent_p.S370S	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	408					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36690176	36690176	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36690176C>T	uc003apg.2	-	28	4030	c.3799G>A	c.(3799-3801)GTG>ATG	p.V1267M		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1267	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---
EIF3D	8664	broad.mit.edu	37	22	36915445	36915445	+	Intron	SNP	C	A	A	rs7287906	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36915445C>A	uc003apq.2	-						EIF3D_uc011amr.1_Intron|EIF3D_uc003apr.2_Intron|EIF3D_uc011ams.1_Intron|EIF3D_uc011amt.1_Intron	NM_003753	NP_003744			eukaryotic translation initiation factor 3							cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			pancreas(1)	1																		---	---	---	---
GGA1	26088	broad.mit.edu	37	22	38014450	38014450	+	Intron	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38014450C>T	uc003atc.2	+						GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Intron|GGA1_uc003atf.2_Intron	NM_013365	NP_037497			golgi associated, gamma adaptin ear containing,						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)																	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38119860	38119860	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38119860G>A	uc003atr.2	+	7	1568	c.1297G>A	c.(1297-1299)GCC>ACC	p.A433T	TRIOBP_uc003atu.2_Missense_Mutation_p.A261T|TRIOBP_uc003atq.1_Missense_Mutation_p.A433T|TRIOBP_uc003ats.1_Missense_Mutation_p.A261T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	433					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)																	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38882439	38882439	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38882439C>T	uc003avy.3	-	13	1800	c.1697G>A	c.(1696-1698)CGT>CAT	p.R566H	DDX17_uc003avw.3_Missense_Mutation_p.R18H|DDX17_uc010gxp.2_Missense_Mutation_p.R16H|DDX17_uc003avx.3_Missense_Mutation_p.R564H	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	485					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)																	---	---	---	---
PPPDE2	27351	broad.mit.edu	37	22	41999312	41999312	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41999312G>A	uc003ban.1	-	5	437	c.364C>T	c.(364-366)CGG>TGG	p.R122W	PPPDE2_uc011apb.1_RNA	NM_015704	NP_056519	Q6ICB0	PPDE2_HUMAN	PPPDE peptidase domain containing 2	122	PPPDE peptidase.										0																		---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42523547	42523547	+	Missense_Mutation	SNP	C	T	T	rs79489631		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42523547C>T	uc003bce.2	-	7	1165	c.1075G>A	c.(1075-1077)GTG>ATG	p.V359M	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.V53M|CYP2D6_uc003bcf.2_Missense_Mutation_p.V308M	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	359							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2																		---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42608372	42608372	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42608372C>T	uc003bcj.1	-	1	3074	c.2940G>A	c.(2938-2940)CCG>CCA	p.P980P	TCF20_uc003bck.1_Silent_p.P980P|TCF20_uc003bnt.2_Silent_p.P980P	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	980					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5																		---	---	---	---
FBLN1	2192	broad.mit.edu	37	22	45939288	45939288	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45939288C>T	uc003bgj.1	+	11	1350	c.1203C>T	c.(1201-1203)AAC>AAT	p.N401N	FBLN1_uc003bgg.1_Silent_p.N401N|FBLN1_uc003bgh.2_Silent_p.N401N|FBLN1_uc010gzz.2_Silent_p.N439N|FBLN1_uc003bgi.1_Silent_p.N401N	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	401	EGF-like 6; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)														---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46929555	46929555	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46929555C>T	uc003bhw.1	-	1	3513	c.3513G>A	c.(3511-3513)CCG>CCA	p.P1171P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1171	Extracellular (Potential).|Cadherin 9.				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)														---	---	---	---
GRAMD4	23151	broad.mit.edu	37	22	47054103	47054103	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47054103G>A	uc003bhx.2	+	3	342	c.303G>A	c.(301-303)CTG>CTA	p.L101L	GRAMD4_uc010had.2_Silent_p.L40L	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	101	Potential.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)														---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50279692	50279692	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50279692G>A	uc003bix.2	+	2	2852	c.2382G>A	c.(2380-2382)GCG>GCA	p.A794A		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	794						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
PANX2	56666	broad.mit.edu	37	22	50615930	50615930	+	Silent	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50615930G>A	uc003bjn.3	+	2	789	c.789G>A	c.(787-789)GCG>GCA	p.A263A	PANX2_uc003bjp.3_Silent_p.A129A|PANX2_uc003bjo.3_Silent_p.A263A	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	263	Extracellular (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)														---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1584732	1584732	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1584732C>T	uc004cpz.2	-	2	968	c.720G>A	c.(718-720)GCG>GCA	p.A240A		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	240	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		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)						T	CRLF2	B-ALL|Downs associated ALL								---	---	---	---
ASMT	438	broad.mit.edu	37	X	1734137	1734137	+	Silent	SNP	C	T	T	rs146829905	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1734137C>T	uc004cqd.2	+	2	190	c.45C>T	c.(43-45)TAC>TAT	p.Y15Y	ASMT_uc010ncy.2_Silent_p.Y15Y|ASMT_uc004cqe.2_Silent_p.Y15Y	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	15					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)																---	---	---	---
ZBED1	9189	broad.mit.edu	37	X	2408192	2408192	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2408192T>C	uc004cqg.2	-	2	770	c.569A>G	c.(568-570)GAG>GGG	p.E190G	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.E190G	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	190						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				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)																---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10096130	10096130	+	Missense_Mutation	SNP	C	T	T	rs138880852		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10096130C>T	uc004csx.3	+	16	2407	c.2209C>T	c.(2209-2211)CGG>TGG	p.R737W	WWC3_uc010nds.2_Missense_Mutation_p.R401W|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	737										ovary(4)	4																		---	---	---	---
CLCN4	1183	broad.mit.edu	37	X	10182015	10182015	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10182015C>T	uc004csy.3	+	11	2301	c.1871C>T	c.(1870-1872)ACG>ATG	p.T624M	CLCN4_uc011mid.1_Missense_Mutation_p.T530M	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	624	CBS 1.|Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5																		---	---	---	---
ACE2	59272	broad.mit.edu	37	X	15589815	15589815	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15589815G>A	uc004cxa.1	-	13	1937	c.1769C>T	c.(1768-1770)CCC>CTC	p.P590L	ACE2_uc004cxb.2_Missense_Mutation_p.P590L	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	590	Extracellular (Potential).				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)													---	---	---	---
YY2	404281	broad.mit.edu	37	X	21874825	21874825	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21874825G>A	uc011mjp.1	+	1	223	c.223G>A	c.(223-225)GAC>AAC	p.D75N	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.D293N|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	75	Mediates transcriptional activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37984696	37984696	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37984696T>C	uc004ddu.2	+	17	2521	c.1987T>C	c.(1987-1989)TGG>CGG	p.W663R	SYTL5_uc004ddv.2_Missense_Mutation_p.W663R|SYTL5_uc004ddx.2_Missense_Mutation_p.W685R	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	663	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1																		---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49071797	49071797	+	Intron	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49071797G>A	uc004dnb.2	-						CACNA1F_uc010nip.2_Intron	NM_005183	NP_005174			calcium channel, voltage-dependent, L type,						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)													---	---	---	---
FGD1	2245	broad.mit.edu	37	X	54472656	54472656	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54472656C>T	uc004dtg.2	-	18	3506	c.2772G>A	c.(2770-2772)ACG>ACA	p.T924T		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	924					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99657662	99657662	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99657662G>A	uc010nmz.2	-	3	4152	c.2476C>T	c.(2476-2478)CGC>TGC	p.R826C	PCDH19_uc004efw.3_Missense_Mutation_p.R779C|PCDH19_uc004efx.3_Missense_Mutation_p.R779C	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	826	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7																		---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105450793	105450793	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105450793C>T	uc004emf.1	+	4	2017	c.1368C>T	c.(1366-1368)GAC>GAT	p.D456D	MUM1L1_uc004emg.1_Silent_p.D456D	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	456										ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
ZCCHC16	340595	broad.mit.edu	37	X	111698712	111698712	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111698712C>T	uc004epo.1	+	3	1197	c.756C>T	c.(754-756)CCC>CCT	p.P252P		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	252							nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---
HTR2C	3358	broad.mit.edu	37	X	113965833	113965833	+	Missense_Mutation	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:113965833C>T	uc004epu.1	+	4	894	c.166C>T	c.(166-168)CCA>TCA	p.P56S	HTR2C_uc010nqc.1_Missense_Mutation_p.P56S|HTR2C_uc004epv.1_Missense_Mutation_p.P56S	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	56	Helical; Name=1; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)													---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129189948	129189948	+	Missense_Mutation	SNP	G	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129189948G>T	uc004evb.1	+	13	5087	c.4973G>T	c.(4972-4974)AGG>ATG	p.R1658M	BCORL1_uc004evc.1_Missense_Mutation_p.R494M	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1658					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639606	149639606	+	Silent	SNP	C	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149639606C>A	uc004fee.1	+	3	1837	c.1761C>A	c.(1759-1761)TCC>TCA	p.S587S	MAMLD1_uc011mxt.1_Silent_p.S549S|MAMLD1_uc011mxu.1_Silent_p.S562S|MAMLD1_uc011mxv.1_Silent_p.S562S|MAMLD1_uc011mxw.1_Silent_p.S514S	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	587					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
GABRE	2564	broad.mit.edu	37	X	151128320	151128320	+	Missense_Mutation	SNP	T	C	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151128320T>C	uc004ffi.2	-	6	829	c.775A>G	c.(775-777)ACC>GCC	p.T259A	GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR224_hsa-mir-224|MI0000301_5'Flank|MIR452_hsa-mir-452|MI0001733_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	259	Helical; (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
IRAK1	3654	broad.mit.edu	37	X	153278091	153278091	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153278091G>A	uc004fjs.1	-	13	2048	c.1969C>T	c.(1969-1971)CCA>TCA	p.P657S	IRAK1_uc004fjr.1_Missense_Mutation_p.P627S|IRAK1_uc004fjt.1_Missense_Mutation_p.P578S|IRAK1_uc010nur.2_Intron	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	657					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|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 NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ATP6AP1	537	broad.mit.edu	37	X	153663736	153663736	+	Missense_Mutation	SNP	G	A	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153663736G>A	uc004flf.1	+	9	1149	c.1088G>A	c.(1087-1089)GGG>GAG	p.G363E	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.G323E|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	363					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	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)																	---	---	---	---
DKC1	1736	broad.mit.edu	37	X	153995617	153995617	+	Silent	SNP	C	T	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153995617C>T	uc004fmm.2	+	7	810	c.600C>T	c.(598-600)TAC>TAT	p.Y200Y	DKC1_uc010nvf.2_Silent_p.Y200Y|SNORA36A_uc004fmn.2_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	200					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													Congenital_Dyskeratosis				---	---	---	---
