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
PRAMEF16	654348	broad.mit.edu	37	1	13497435	13497435	+	Intron	DEL	G	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:13497435delG	uc001aux.2	+							NM_001045480	NP_001038945			PRAME family member 16												0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57498844	57498845	+	Intron	INS	-	ACAC	ACAC	rs141683665	by1000genomes	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57498844_57498845insACAC	uc001cys.1	-						DAB1_uc001cyt.1_Intron|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc009vzx.1_Intron	NM_021080	NP_066566			disabled homolog 1						cell differentiation|nervous system development					skin(2)|ovary(1)	3																		---	---	---	---
ATG4C	84938	broad.mit.edu	37	1	63284593	63284593	+	Intron	DEL	T	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63284593delT	uc001dat.2	+						ATG4C_uc001dau.2_Intron	NM_178221	NP_835739			APG4 autophagy 4 homolog C isoform 8						autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	72767555	72767555	+	IGR	DEL	A	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:72767555delA								NEGR1 (19150 upstream) : None (None downstream)																																			---	---	---	---
RTCD1	8634	broad.mit.edu	37	1	100733959	100733960	+	Intron	INS	-	T	T	rs146892533		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100733959_100733960insT	uc001dtc.2	+						RTCD1_uc010ouh.1_Intron|RTCD1_uc001dtd.2_Intron	NM_003729	NP_003720			RNA terminal phosphate cyclase domain 1 isoform						RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)														---	---	---	---
PPPDE1	51029	broad.mit.edu	37	1	244849568	244849569	+	Intron	INS	-	TG	TG	rs72146207		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244849568_244849569insTG	uc001iao.2	+						PPPDE1_uc001iap.2_Intron	NM_016076	NP_057160			PPPDE peptidase domain containing 1											breast(3)	3																		---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11339009	11339009	+	Intron	DEL	C	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11339009delC	uc002rbd.1	-							NM_004850	NP_004841			Rho-associated, coiled-coil containing protein						axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)														---	---	---	---
IMMT	10989	broad.mit.edu	37	2	86400703	86400704	+	Intron	INS	-	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86400703_86400704insA	uc002sqz.3	-						IMMT_uc002sqy.3_5'Flank|IMMT_uc002srb.3_Intron|IMMT_uc002sra.3_Intron|IMMT_uc010ytd.1_Intron|IMMT_uc010yte.1_Intron|IMMT_uc002src.1_5'Flank|IMMT_uc002srd.2_Intron|IMMT_uc002sre.3_Intron|IMMT_uc010ytf.1_Intron|IMMT_uc010fgs.1_Intron	NM_006839	NP_006830			inner membrane protein, mitochondrial isoform 1							integral to mitochondrial inner membrane	protein binding			skin(1)	1																		---	---	---	---
PLEKHB2	55041	broad.mit.edu	37	2	132109442	132109446	+	Intron	DEL	TTTTG	-	-	rs70994755		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:132109442_132109446delTTTTG	uc002tsh.2	+											SubName: Full=Putative uncharacterized protein PLEKHB2;							membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0828)														---	---	---	---
Unknown	0	broad.mit.edu	37	2	133034808	133034808	+	IGR	DEL	G	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133034808delG								NCRNA00164 (19266 upstream) : GPR39 (139339 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	3	129637795	129637795	+	IGR	DEL	C	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129637795delC								TMCC1 (25392 upstream) : TRH (55319 downstream)																																			---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186283364	186283364	+	Intron	DEL	A	-	-	rs78356496		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186283364delA	uc003ixh.2	+						SNX25_uc010ish.2_Intron|SNX25_uc003ixi.2_Intron	NM_031953	NP_114159			sorting nexin 25						cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)														---	---	---	---
Unknown	0	broad.mit.edu	37	5	103090878	103090881	+	IGR	DEL	GAAG	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:103090878_103090881delGAAG								NUDT12 (192388 upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	5	178183049	178183057	+	IGR	DEL	TGGTGGTGA	-	-	rs75095696		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178183049_178183057delTGGTGGTGA								ZNF354A (25346 upstream) : AACSL (8809 downstream)																																			---	---	---	---
WRNIP1	56897	broad.mit.edu	37	6	2785016	2785016	+	Intron	DEL	A	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2785016delA	uc003mtz.2	+						WRNIP1_uc003mua.2_Intron	NM_020135	NP_064520			Werner helicase interacting protein isoform 1						DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Ovarian(93;0.0412)	all_hematologic(90;0.0895)																---	---	---	---
Unknown	0	broad.mit.edu	37	6	128901168	128901169	+	IGR	INS	-	G	G	rs1146000	by1000genomes	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128901168_128901169insG								PTPRK (59298 upstream) : LAMA2 (303117 downstream)																																			---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145011233	145011235	+	Intron	DEL	GTG	-	-	rs146918937		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:145011233_145011235delGTG	uc003qkt.2	+							NM_007124	NP_009055			utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
Unknown	0	broad.mit.edu	37	6	160319646	160319648	+	IGR	DEL	CTT	-	-	rs403644	by1000genomes	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160319646_160319648delCTT								PNLDC1 (77911 upstream) : MAS1 (8326 downstream)																																			---	---	---	---
WIPI2	26100	broad.mit.edu	37	7	5270696	5270696	+	3'UTR	DEL	A	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5270696delA	uc003snv.2	+	13					WIPI2_uc003snw.2_3'UTR|WIPI2_uc003snx.2_3'UTR|WIPI2_uc003sny.2_3'UTR|WIPI2_uc010ksv.2_3'UTR|WIPI2_uc003soa.2_3'UTR|WIPI2_uc003sob.2_3'UTR	NM_015610	NP_056425			WD repeat domain, phosphoinositide interacting 2						autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)														---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97862098	97862098	+	Intron	DEL	A	-	-	rs139511001		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97862098delA	uc003upg.2	-						TECPR1_uc003uph.1_Intron	NM_015395	NP_056210			tectonin beta-propeller repeat containing 1							integral to membrane	protein binding			pancreas(1)	1																		---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148543970	148543976	+	Intron	DEL	GTGTGTA	-	-	rs59597308		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148543970_148543976delGTGTGTA	uc003wfd.1	-						EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Intron|EZH2_uc003wfc.1_Intron|EZH2_uc011kuh.1_Intron|EZH2_uc011kui.1_Intron|EZH2_uc011kuj.1_Intron	NM_004456	NP_004447			enhancer of zeste 2 isoform a						negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)					Mis		DLBCL								---	---	---	---
Unknown	0	broad.mit.edu	37	8	30181795	30181802	+	IGR	DEL	AGAAAGGG	-	-	rs72142959		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30181795_30181802delAGAAAGGG								DCTN6 (140736 upstream) : RBPMS (60142 downstream)																																			---	---	---	---
DEPDC6	64798	broad.mit.edu	37	8	121061618	121061618	+	Intron	DEL	T	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121061618delT	uc003yow.3	+						DEPDC6_uc011lid.1_Intron	NM_022783	NP_073620			DEP domain containing 6						intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	144474216	144474219	+	IGR	DEL	CCAC	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144474216_144474219delCCAC								RHPN1 (7827 upstream) : MAFA (37296 downstream)																																			---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34964520	34964520	+	Intron	DEL	T	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:34964520delT	uc010qej.1	-						PARD3_uc010qek.1_Intron|PARD3_uc010qel.1_Intron|PARD3_uc010qem.1_Intron|PARD3_uc010qen.1_Intron|PARD3_uc010qeo.1_Intron|PARD3_uc010qep.1_Intron|PARD3_uc010qeq.1_Intron|PARD3_uc001ixq.1_Intron|PARD3_uc001ixr.1_Intron|PARD3_uc001ixu.1_Intron	NM_019619	NP_062565			partitioning-defective protein 3 homolog						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)																---	---	---	---
Unknown	0	broad.mit.edu	37	10	77089166	77089177	+	Intron	DEL	TCCTTCCTTTCC	-	-	rs60802012		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:77089166_77089177delTCCTTCCTTTCC	uc001jxd.1	+											Homo sapiens cDNA FLJ13383 fis, clone PLACE1001024.																														---	---	---	---
MARCH5	54708	broad.mit.edu	37	10	94110785	94110785	+	Intron	DEL	A	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94110785delA	uc001khx.1	+						MARCH5_uc010qno.1_Intron	NM_017824	NP_060294			membrane-associated ring finger (C3HC4) 5						cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	120007968	120007971	+	IGR	DEL	GGAA	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120007968_120007971delGGAA								CASC2 (38309 upstream) : C10orf84 (60601 downstream)																																			---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17452094	17452095	+	Intron	INS	-	TT	TT	rs72866869	by1000genomes	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17452094_17452095insTT	uc001mnc.2	-							NM_000352	NP_000343			ATP-binding cassette, sub-family C, member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---
ASRGL1	80150	broad.mit.edu	37	11	62105742	62105743	+	Intron	INS	-	TGAA	TGAA			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62105742_62105743insTGAA	uc001nte.3	+						ASRGL1_uc001ntf.3_Intron|ASRGL1_uc001ntg.3_Intron	NM_025080	NP_079356			asparaginase-like 1						asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)													---	---	---	---
Unknown	0	broad.mit.edu	37	11	89771845	89771845	+	Intron	DEL	T	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89771845delT	uc010rua.1	+							NM_020358	NP_065091			ring finger protein 18																														---	---	---	---
TMEM136	219902	broad.mit.edu	37	11	120199650	120199655	+	Intron	DEL	TGTGTT	-	-	rs72412112		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120199650_120199655delTGTGTT	uc001pxh.1	+						TMEM136_uc001pxg.2_Intron|TMEM136_uc010rzm.1_Intron|TMEM136_uc001pxj.2_Intron|TMEM136_uc009zas.1_Intron|TMEM136_uc001pxi.1_Intron	NM_174926	NP_777586			transmembrane protein 136							integral to membrane				ovary(1)	1		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)														---	---	---	---
RACGAP1	29127	broad.mit.edu	37	12	50395874	50395874	+	Intron	DEL	G	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50395874delG	uc001rvt.2	-						RACGAP1_uc009zlm.1_Intron|RACGAP1_uc001rvs.2_Intron|RACGAP1_uc001rvu.2_Intron	NM_013277	NP_037409			Rac GTPase activating protein 1						blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1																		---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33752053	33752054	+	Intron	INS	-	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33752053_33752054insA	uc001uuw.2	-						STARD13_uc001uuu.2_Intron|STARD13_uc001uuv.2_Intron|STARD13_uc001uux.2_Intron|STARD13_uc010tec.1_Intron|STARD13_uc010abh.1_Intron	NM_178006	NP_821074			StAR-related lipid transfer (START) domain						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	45168862	45168862	+	IGR	DEL	T	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45168862delT								TSC22D1 (18161 upstream) : NUFIP1 (344522 downstream)																																			---	---	---	---
SLC25A21	89874	broad.mit.edu	37	14	37229537	37229552	+	Intron	DEL	GAAGGAAGGAAGGAAG	-	-	rs10525656		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37229537_37229552delGAAGGAAGGAAGGAAG	uc001wtz.1	-							NM_030631	NP_085134			solute carrier family 25 (mitochondrial						lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)														---	---	---	---
SPTLC2	9517	broad.mit.edu	37	14	78021963	78021964	+	Intron	INS	-	T	T	rs151267420	by1000genomes	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78021963_78021964insT	uc001xub.2	-							NM_004863	NP_004854			serine palmitoyltransferase, long chain base							integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			upper_aerodigestive_tract(1)|ovary(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)													---	---	---	---
ALKBH1	8846	broad.mit.edu	37	14	78142341	78142342	+	Intron	INS	-	TT	TT			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78142341_78142342insTT	uc001xuc.1	-						ALKBH1_uc001xud.1_Intron	NM_006020	NP_006011			alkylated DNA repair protein alkB homolog						DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	89277791	89277793	+	IGR	DEL	TTT	-	-	rs35636058		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89277791_89277793delTTT								EML5 (18634 upstream) : TTC8 (12704 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	14	95193580	95193581	+	IGR	DEL	AA	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95193580_95193581delAA								SERPINA13 (80250 upstream) : GSC (40980 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	15	23265692	23265693	+	IGR	INS	-	T	T	rs71233666		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23265692_23265693insT								GOLGA9P (2949 upstream) : HERC2P2 (16572 downstream)																																			---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51696228	51696229	+	Intron	INS	-	TCTT	TCTT	rs149014390	by1000genomes	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51696228_51696229insTCTT	uc002aba.2	+						GLDN_uc002abb.2_Intron	NM_181789	NP_861454			gliomedin						cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)														---	---	---	---
WDR61	80349	broad.mit.edu	37	15	78587083	78587083	+	Intron	DEL	T	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78587083delT	uc002bdn.2	-						WDR61_uc002bdo.2_Intron|WDR61_uc010umz.1_Intron|WDR61_uc010una.1_Intron|WDR61_uc010blc.1_3'UTR	NM_025234	NP_079510			WD repeat domain 61								protein binding			ovary(1)|skin(1)	2																		---	---	---	---
EMP2	2013	broad.mit.edu	37	16	10631618	10631619	+	Intron	DEL	CA	-	-	rs34790340		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10631618_10631619delCA	uc002czx.2	-							NM_001424	NP_001415			epithelial membrane protein 2						cell proliferation	integral to membrane					0																		---	---	---	---
PARN	5073	broad.mit.edu	37	16	14721881	14721881	+	Intron	DEL	A	-	-			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14721881delA	uc010uzd.1	-						PARN_uc010uzc.1_Intron|PARN_uc010uze.1_Intron|PARN_uc010uzf.1_Intron|PARN_uc010uzg.1_Intron	NM_002582	NP_002573			poly(A)-specific ribonuclease (deadenylation						female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			ovary(2)	2																		---	---	---	---
CFDP1	10428	broad.mit.edu	37	16	75446835	75446836	+	Intron	INS	-	A	A	rs76178972		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75446835_75446836insA	uc002fdy.2	-						CFDP1_uc002fdz.2_Intron|CFDP1_uc002fea.1_Intron	NM_006324	NP_006315			craniofacial development protein 1						multicellular organismal development					upper_aerodigestive_tract(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	17	37213234	37213235	+	5'Flank	INS	-	T	T	rs148158521	by1000genomes	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37213234_37213235insT	uc002hre.1	+											Homo sapiens cDNA FLJ37796 fis, clone BRSSN1000092.																														---	---	---	---
Unknown	0	broad.mit.edu	37	19	5445205	5445206	+	IGR	INS	-	AGG	AGG	rs4011134		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5445205_5445206insAGG								PTPRS (104391 upstream) : ZNRF4 (10220 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	19	42107427	42107428	+	IGR	INS	-	CA	CA	rs71928647		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42107427_42107428insCA								CEACAM21 (14231 upstream) : CEACAM4 (17916 downstream)																																			---	---	---	---
C1orf127	148345	broad.mit.edu	37	1	11008159	11008159	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11008159C>T	uc010oao.1	-	8	1591	c.1586G>A	c.(1585-1587)AGT>AAT	p.S529N	C1orf127_uc001arr.1_Missense_Mutation_p.S511N|C1orf127_uc001ars.1_Missense_Mutation_p.S503N	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	529										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)														---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34684357	34684357	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34684357T>G	uc001bxs.3	+	7	1621	c.1222T>G	c.(1222-1224)TTT>GTT	p.F408V	C1orf94_uc001bxt.2_Missense_Mutation_p.F598V	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	408							protein binding				0		Myeloproliferative disorder(586;0.0393)																---	---	---	---
NEGR1	257194	broad.mit.edu	37	1	72076709	72076709	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:72076709T>G	uc001dfw.2	-	5	888	c.788A>C	c.(787-789)AAG>ACG	p.K263T	NEGR1_uc001dfv.2_Missense_Mutation_p.K135T|NEGR1_uc010oqs.1_Missense_Mutation_p.K219T	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	263	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)														---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86307783	86307783	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86307783G>T	uc001dlj.2	-	41	3580	c.3538C>A	c.(3538-3540)CCC>ACC	p.P1180T	COL24A1_uc001dli.2_Missense_Mutation_p.P316T|COL24A1_uc010osd.1_Missense_Mutation_p.P480T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1180	Collagen-like 12.				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)														---	---	---	---
GBP2	2634	broad.mit.edu	37	1	89587653	89587653	+	5'UTR	SNP	C	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89587653C>G	uc001dmz.1	-	2					GBP2_uc001dmy.1_RNA	NM_004120	NP_004111			guanylate binding protein 2,						interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91846476	91846476	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91846476A>C	uc001doa.3	-	7	966	c.866T>G	c.(865-867)TTT>TGT	p.F289C	HFM1_uc010osu.1_5'UTR|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.F289C	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	289							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)														---	---	---	---
ALG14	199857	broad.mit.edu	37	1	95530569	95530569	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:95530569C>T	uc001dra.2	-	2	194	c.141G>A	c.(139-141)GGG>GGA	p.G47G		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	asparagine-linked glycosylation 14 homolog	47	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity				0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118640394	118640394	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118640394T>A	uc001ehk.2	-	7	978	c.910A>T	c.(910-912)AAT>TAT	p.N304Y		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	304						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612013	120612013	+	Missense_Mutation	SNP	G	A	A	rs150390977	by1000genomes	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120612013G>A	uc001eik.2	-	1	264	c.8C>T	c.(7-9)GCC>GTC	p.A3V	NOTCH2_uc001eil.2_Missense_Mutation_p.A3V|NOTCH2_uc001eim.3_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	3					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				---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187749	152187749	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152187749C>A	uc001ezt.1	-	3	6432	c.6356G>T	c.(6355-6357)AGT>ATT	p.S2119I		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2119	23.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
LCE2C	353140	broad.mit.edu	37	1	152648487	152648487	+	5'UTR	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152648487C>T	uc001fah.2	+	2						NM_178429	NP_848516			late cornified envelope 2C						keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153727151	153727151	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153727151G>A	uc009wom.2	+	10	1114	c.893G>A	c.(892-894)CGA>CAA	p.R298Q	INTS3_uc001fct.2_Missense_Mutation_p.R298Q|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_Missense_Mutation_p.R92Q|INTS3_uc010peb.1_Missense_Mutation_p.R92Q|INTS3_uc001fcw.2_5'UTR|INTS3_uc010pec.1_5'Flank	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	299					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156849034	156849034	+	Silent	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156849034G>T	uc001fqh.1	+	15	1982	c.1926G>T	c.(1924-1926)GCG>GCT	p.A642A	NTRK1_uc001fqf.1_Silent_p.A606A|NTRK1_uc009wsi.1_Silent_p.A341A|NTRK1_uc001fqi.1_Silent_p.A636A|NTRK1_uc009wsk.1_Silent_p.A639A	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	642	Cytoplasmic (Potential).|Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	175914310	175914310	+	Intron	SNP	A	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175914310A>T	uc001gku.1	-						RFWD2_uc001gkv.1_Intron|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_Intron|RFWD2_uc001gkt.1_Intron	NM_022457	NP_071902			ring finger and WD repeat domain 2 isoform a						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186026410	186026410	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186026410A>C	uc001grq.1	+	46	7418	c.7189A>C	c.(7189-7191)AGT>CGT	p.S2397R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2397	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
RGS18	64407	broad.mit.edu	37	1	192127818	192127818	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:192127818A>C	uc001gsg.2	+	1	227	c.51A>C	c.(49-51)AAA>AAC	p.K17N		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	17					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3																		---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216373111	216373111	+	Silent	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216373111A>G	uc001hku.1	-	17	4056	c.3669T>C	c.(3667-3669)TGT>TGC	p.C1223C	USH2A_uc001hkv.2_Silent_p.C1223C	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1223	Extracellular (Potential).|Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232577524	232577524	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232577524G>C	uc001hvg.2	-	11	3686	c.3528C>G	c.(3526-3528)AGC>AGG	p.S1176R	SIPA1L2_uc001hvf.2_Missense_Mutation_p.S250R	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1176					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)																---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237804268	237804268	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237804268T>G	uc001hyl.1	+	47	7307	c.7187T>G	c.(7186-7188)ATT>AGT	p.I2396S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2396	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238053757	238053757	+	Intron	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:238053757T>G	uc001hym.2	-						LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009			zona pellucida glycoprotein 4 preproprotein						acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)															---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370957	240370957	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240370957C>A	uc010pyd.1	+	5	3070	c.2845C>A	c.(2845-2847)CCC>ACC	p.P949T	FMN2_uc010pye.1_Missense_Mutation_p.P953T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	949	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---
GREM2	64388	broad.mit.edu	37	1	240656338	240656338	+	Silent	SNP	G	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240656338G>C	uc001hys.2	-	2	718	c.438C>G	c.(436-438)CTC>CTG	p.L146L		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	146	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)															---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247655335	247655335	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247655335A>C	uc001icz.1	+	1	906	c.906A>C	c.(904-906)GAA>GAC	p.E302D		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---
OR13G1	441933	broad.mit.edu	37	1	247835493	247835493	+	Missense_Mutation	SNP	G	A	A	rs151003275		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247835493G>A	uc001idi.1	-	1	851	c.851C>T	c.(850-852)CCG>CTG	p.P284L		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)															---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875532	247875532	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875532G>T	uc001idj.1	-	1	526	c.526C>A	c.(526-528)CAC>AAC	p.H176N		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248309088	248309088	+	Silent	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248309088C>A	uc010pze.1	+	1	639	c.639C>A	c.(637-639)ATC>ATA	p.I213I		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)															---	---	---	---
APOB	338	broad.mit.edu	37	2	21230450	21230450	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21230450T>G	uc002red.2	-	26	9418	c.9290A>C	c.(9289-9291)AAG>ACG	p.K3097T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3097					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26685000	26685000	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26685000C>T	uc002rhk.2	-	42	5369	c.5242G>A	c.(5242-5244)GAC>AAC	p.D1748N	OTOF_uc010yla.1_Missense_Mutation_p.D478N|OTOF_uc002rhh.2_Missense_Mutation_p.D981N|OTOF_uc002rhi.2_Missense_Mutation_p.D1058N|OTOF_uc002rhj.2_Missense_Mutation_p.D981N	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1748	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27156127	27156127	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27156127C>A	uc002rhu.3	+	7	874	c.716C>A	c.(715-717)ACT>AAT	p.T239N	DPYSL5_uc002rhv.3_Missense_Mutation_p.T239N	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	239					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ALK	238	broad.mit.edu	37	2	29462543	29462543	+	Intron	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29462543T>G	uc002rmy.2	-							NM_004304	NP_004295			anaplastic lymphoma kinase precursor						protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				---	---	---	---
THADA	63892	broad.mit.edu	37	2	43802126	43802126	+	Silent	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43802126A>G	uc002rsw.3	-	11	1430	c.1078T>C	c.(1078-1080)TTA>CTA	p.L360L	THADA_uc002rsx.3_Silent_p.L360L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Silent_p.L70L|THADA_uc002rta.2_Silent_p.L70L|THADA_uc002rtb.1_Silent_p.L360L|THADA_uc002rtc.3_Silent_p.L360L|THADA_uc002rtd.2_Silent_p.L360L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	360							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)																---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49216184	49216184	+	Silent	SNP	T	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:49216184T>C	uc002rww.2	-	6	530	c.456A>G	c.(454-456)CAA>CAG	p.Q152Q	FSHR_uc002rwx.2_Silent_p.Q152Q|FSHR_uc010fbn.2_Intron|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	152	LRR 5.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									Gonadal_Dysgenesis_46_XX				---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50282083	50282083	+	Intron	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50282083T>A	uc010fbp.2	-						NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron	NM_138735	NP_620072			neurexin 1 isoform beta precursor						angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100623244	100623244	+	Silent	SNP	T	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:100623244T>C	uc002tag.2	-	6	959	c.723A>G	c.(721-723)CAA>CAG	p.Q241Q	AFF3_uc002taf.2_Silent_p.Q266Q|AFF3_uc010fiq.1_Silent_p.Q241Q|AFF3_uc010yvr.1_Silent_p.Q395Q|AFF3_uc002tah.1_Silent_p.Q266Q|AFF3_uc010fir.1_Silent_p.Q318Q|AFF3_uc002tai.2_Silent_p.Q163Q	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	241					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																		---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133540288	133540288	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133540288T>G	uc002ttp.2	-	14	4470	c.4096A>C	c.(4096-4098)AGT>CGT	p.S1366R	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1366							protein binding				0																		---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141625375	141625375	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141625375C>T	uc002tvj.1	-	27	5335	c.4363G>A	c.(4363-4365)GAT>AAT	p.D1455N	LRP1B_uc010fnl.1_Missense_Mutation_p.D637N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1455	Extracellular (Potential).|LDL-receptor class B 12.				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)			---	---	---	---
ORC4L	5000	broad.mit.edu	37	2	148715948	148715948	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:148715948C>T	uc002twi.2	-	6	441	c.306G>A	c.(304-306)CTG>CTA	p.L102L	ORC4L_uc002twj.2_Silent_p.L102L|ORC4L_uc010zbo.1_Silent_p.L28L|ORC4L_uc010zbp.1_5'UTR|ORC4L_uc010fnr.2_Silent_p.L102L|ORC4L_uc010zbq.1_Silent_p.L18L|ORC4L_uc002twk.2_Silent_p.L102L|ORC4L_uc010zbr.1_Silent_p.L102L	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	102					cell cycle checkpoint|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	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)														---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164466918	164466918	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:164466918T>G	uc002uck.1	-	3	1735	c.1424A>C	c.(1423-1425)GAG>GCG	p.E475A		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	475						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4																		---	---	---	---
DHRS9	10170	broad.mit.edu	37	2	169940025	169940025	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169940025G>A	uc002uep.2	+	6	2004	c.500G>A	c.(499-501)GGT>GAT	p.G167D	DHRS9_uc002ueq.2_Missense_Mutation_p.G167D|DHRS9_uc010zdc.1_Missense_Mutation_p.G227D|DHRS9_uc010zdd.1_Missense_Mutation_p.G167D|DHRS9_uc010zde.1_Missense_Mutation_p.G167D	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN	NADP-dependent retinol dehydrogenase/reductase	167					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity				0																		---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171702021	171702021	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171702021G>A	uc002ugi.2	+	8	1179	c.757G>A	c.(757-759)GCC>ACC	p.A253T		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	253					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)													---	---	---	---
TTN	7273	broad.mit.edu	37	2	179419406	179419406	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179419406C>T	uc010zfg.1	-	281	81188	c.80964G>A	c.(80962-80964)CGG>CGA	p.R26988R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R20683R|TTN_uc010zfi.1_Silent_p.R20616R|TTN_uc010zfj.1_Silent_p.R20491R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27915							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	179466785	179466785	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179466785G>A	uc010zfg.1	-	233	47733	c.47509C>T	c.(47509-47511)CGC>TGC	p.R15837C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9532C|TTN_uc010zfi.1_Missense_Mutation_p.R9465C|TTN_uc010zfj.1_Missense_Mutation_p.R9340C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16764							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	179482583	179482583	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179482583C>A	uc010zfg.1	-	202	40015	c.39791G>T	c.(39790-39792)CGA>CTA	p.R13264L	TTN_uc010zfh.1_Missense_Mutation_p.R6959L|TTN_uc010zfi.1_Missense_Mutation_p.R6892L|TTN_uc010zfj.1_Missense_Mutation_p.R6767L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14191							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	179579038	179579038	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179579038G>A	uc010zfg.1	-	88	22955	c.22731C>T	c.(22729-22731)TTC>TTT	p.F7577F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.F4238F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8504							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	179594123	179594123	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179594123A>C	uc010zfg.1	-	61	15252	c.15028T>G	c.(15028-15030)TTT>GTT	p.F5010V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F1671V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5937							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)															---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197870619	197870619	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197870619C>A	uc002uua.1	-	21	2148	c.2071G>T	c.(2071-2073)GAG>TAG	p.E691*	ANKRD44_uc002utz.3_Nonsense_Mutation_p.E423*	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	716	ANK 21.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
MDH1B	130752	broad.mit.edu	37	2	207620121	207620121	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207620121T>G	uc002vbs.2	-	5	577	c.522A>C	c.(520-522)GAA>GAC	p.E174D	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.E174D|MDH1B_uc010fuj.2_Missense_Mutation_p.E76D|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	174					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)														---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211507265	211507265	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211507265T>G	uc002vee.3	+	25	3149	c.3017T>G	c.(3016-3018)CTT>CGT	p.L1006R	CPS1_uc010fur.2_Missense_Mutation_p.L1012R|CPS1_uc010fus.2_Missense_Mutation_p.L555R	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1006					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)														---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215802254	215802254	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215802254A>C	uc002vew.2	-	51	7742	c.7522T>G	c.(7522-7524)TTT>GTT	p.F2508V	ABCA12_uc002vev.2_Missense_Mutation_p.F2190V|ABCA12_uc010zjn.1_Missense_Mutation_p.F1435V	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2508					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---
XRCC5	7520	broad.mit.edu	37	2	217012887	217012887	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:217012887G>A	uc002vfy.2	+	14	1698	c.1558G>A	c.(1558-1560)GCT>ACT	p.A520T	XRCC5_uc002vfz.2_Missense_Mutation_p.A406T	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	520					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					---	---	---	---
DNER	92737	broad.mit.edu	37	2	230253043	230253043	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230253043T>A	uc002vpv.2	-	11	1940	c.1793A>T	c.(1792-1794)GAC>GTC	p.D598V		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	598	Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)														---	---	---	---
DNER	92737	broad.mit.edu	37	2	230282864	230282864	+	Silent	SNP	G	C	C	rs138648634		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230282864G>C	uc002vpv.2	-	9	1716	c.1569C>G	c.(1567-1569)CTC>CTG	p.L523L		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	523	EGF-like 8; calcium-binding (Potential).|Extracellular (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)														---	---	---	---
SAG	6295	broad.mit.edu	37	2	234217919	234217919	+	Intron	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234217919T>G	uc002vuh.2	+						SAG_uc002vug.2_Intron|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)														---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19389349	19389349	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19389349G>C	uc003cbk.1	+	5	898	c.703G>C	c.(703-705)GTT>CTT	p.V235L	KCNH8_uc011awe.1_Missense_Mutation_p.V235L|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	235	Helical; Name=Segment S1; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38662330	38662330	+	Intron	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38662330T>G	uc003cio.2	-						SCN5A_uc003cin.2_Intron|SCN5A_uc003cil.3_Intron|SCN5A_uc010hhi.2_Intron|SCN5A_uc010hhk.2_Intron|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhl.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)													---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48612668	48612668	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48612668C>A	uc003ctz.2	-	74	6189	c.6188G>T	c.(6187-6189)CGG>CTG	p.R2063L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2063	Triple-helical region.		R -> W (in HS-DEB; also in a mild form).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51399300	51399300	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51399300T>G	uc011bds.1	+	48	5040	c.5017T>G	c.(5017-5019)TTG>GTG	p.L1673V		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1673						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)														---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62423773	62423773	+	Intron	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62423773A>C	uc003dll.2	-						CADPS_uc003dlj.1_Intron|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron	NM_003716	NP_003707			Ca2+-dependent secretion activator isoform 1						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)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89480445	89480445	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89480445A>T	uc003dqy.2	+	13	2507	c.2282A>T	c.(2281-2283)AAG>ATG	p.K761M	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	761	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding	p.K761N(1)		lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
MSL2	55167	broad.mit.edu	37	3	135871486	135871486	+	Silent	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135871486A>C	uc003eqx.1	-	2	970	c.237T>G	c.(235-237)CCT>CCG	p.P79P	MSL2_uc011bmb.1_Silent_p.P5P	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	79	RING-type.				histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151165623	151165623	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151165623T>A	uc011bod.1	-	4	2146	c.2146A>T	c.(2146-2148)AGT>TGT	p.S716C		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	716					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907653	164907653	+	Silent	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164907653A>C	uc003fej.3	-	2	1410	c.966T>G	c.(964-966)TCT>TCG	p.S322S	SLITRK3_uc003fek.2_Silent_p.S322S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	322	Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180379665	180379665	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180379665T>G	uc010hxe.2	-	3	456	c.341A>C	c.(340-342)AAG>ACG	p.K114T	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	114	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
GAK	2580	broad.mit.edu	37	4	844712	844712	+	Intron	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:844712C>T	uc003gbm.3	-						GAK_uc003gbn.3_Intron|GAK_uc003gbk.3_Intron|GAK_uc010ibi.2_Intron|GAK_uc010ibj.2_Intron|GAK_uc003gbl.3_Intron	NM_005255	NP_005246			cyclin G associated kinase						cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)														---	---	---	---
FGFR3	2261	broad.mit.edu	37	4	1807537	1807537	+	Missense_Mutation	SNP	C	T	T	rs146672976		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1807537C>T	uc003gdr.3	+	13	1962	c.1706C>T	c.(1705-1707)GCG>GTG	p.A569V	FGFR3_uc003gdu.2_Missense_Mutation_p.A571V|FGFR3_uc003gds.3_Missense_Mutation_p.A457V|FGFR3_uc003gdq.3_Missense_Mutation_p.A570V	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	569	Protein kinase.|Cytoplasmic (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2948261	2948261	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2948261G>T	uc003ggj.1	-	11	1585	c.1513C>A	c.(1513-1515)CTT>ATT	p.L505I	C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.L251I|NOP14_uc003ggk.3_Missense_Mutation_p.L505I|NOP14_uc003ggl.2_Missense_Mutation_p.L505I	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	505					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1																		---	---	---	---
ZAR1	326340	broad.mit.edu	37	4	48492829	48492829	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48492829G>T	uc003gyd.2	+	1	521	c.521G>T	c.(520-522)CGC>CTC	p.R174L		NM_175619	NP_783318	Q86SH2	ZAR1_HUMAN	zygote arrest 1	174					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity				0																		---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57182325	57182325	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57182325C>T	uc003hbk.2	+	8	3048	c.2657C>T	c.(2656-2658)GCG>GTG	p.A886V	KIAA1211_uc010iha.2_Missense_Mutation_p.A879V|KIAA1211_uc011bzz.1_Missense_Mutation_p.A796V|KIAA1211_uc003hbm.1_Missense_Mutation_p.A772V	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	886										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66189893	66189893	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66189893T>A	uc003hcy.2	-	18	3246	c.3053A>T	c.(3052-3054)AAG>ATG	p.K1018M	EPHA5_uc003hcx.2_Missense_Mutation_p.K950M|EPHA5_uc003hcz.2_Missense_Mutation_p.K996M|EPHA5_uc011cah.1_Missense_Mutation_p.K1019M|EPHA5_uc011cai.1_Missense_Mutation_p.K997M	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	1018	Cytoplasmic (Potential).|SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24															TSP Lung(17;0.13)			---	---	---	---
STAP1	26228	broad.mit.edu	37	4	68441207	68441207	+	Silent	SNP	A	C	C	rs140242248		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68441207A>C	uc003hde.3	+	3	379	c.297A>C	c.(295-297)GTA>GTC	p.V99V	STAP1_uc003hdf.2_Silent_p.V99V	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	99	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm					0																		---	---	---	---
TMPRSS11D	9407	broad.mit.edu	37	4	68688159	68688159	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68688159C>T	uc003hdq.2	-	10	1218	c.1153G>A	c.(1153-1155)GGG>AGG	p.G385R	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Missense_Mutation_p.G166R|TMPRSS11D_uc011caj.1_Missense_Mutation_p.G268R	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	385	Peptidase S1.|Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79236872	79236872	+	Silent	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79236872C>A	uc003hlb.2	+	16	2243	c.1803C>A	c.(1801-1803)GCC>GCA	p.A601A	FRAS1_uc003hkw.2_Silent_p.A601A|FRAS1_uc003hky.1_Silent_p.A305A|FRAS1_uc003hkz.2_Silent_p.A305A|FRAS1_uc003hla.1_Silent_p.A112A	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	601	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
EXOSC9	5393	broad.mit.edu	37	4	122722600	122722600	+	Silent	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122722600A>C	uc003iea.2	+	1	129	c.21A>C	c.(19-21)TCA>TCC	p.S7S	EXOSC9_uc003idz.2_Silent_p.S7S|EXOSC9_uc003ieb.2_5'Flank	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	7	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126242602	126242602	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126242602G>T	uc003ifj.3	+	1	5036	c.5036G>T	c.(5035-5037)CGC>CTC	p.R1679L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1679	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
GUCY1B3	2983	broad.mit.edu	37	4	156696213	156696213	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156696213A>C	uc003ipc.2	+	3	338	c.171A>C	c.(169-171)AAA>AAC	p.K57N	GUCY1B3_uc011cio.1_Missense_Mutation_p.K57N|GUCY1B3_uc011cip.1_Missense_Mutation_p.K37N|GUCY1B3_uc003ipd.2_5'UTR|GUCY1B3_uc010iqf.2_Missense_Mutation_p.K57N|GUCY1B3_uc010iqg.2_5'UTR|GUCY1B3_uc011ciq.1_5'UTR	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	57					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)														---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162376152	162376152	+	Intron	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:162376152T>G	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)														---	---	---	---
TRIM60	166655	broad.mit.edu	37	4	165962283	165962283	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:165962283A>C	uc003iqy.1	+	3	1229	c.1059A>C	c.(1057-1059)GAA>GAC	p.E353D	TRIM60_uc010iqx.1_Missense_Mutation_p.E353D	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	ring finger protein 129	353	B30.2/SPRY.					intracellular	zinc ion binding			skin(1)	1	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)														---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	484801	484801	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:484801C>T	uc003jbe.2	-	5	878	c.766G>A	c.(766-768)GTG>ATG	p.V256M	SLC9A3_uc011clx.1_Missense_Mutation_p.V256M	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	256	Helical; Name=H/M6; (Potential).					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)															---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	10973668	10973668	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10973668T>G	uc003jfa.1	-	22	3720	c.3575A>C	c.(3574-3576)AAG>ACG	p.K1192T	CTNND2_uc010itt.2_Missense_Mutation_p.K1101T|CTNND2_uc011cmy.1_Missense_Mutation_p.K855T|CTNND2_uc011cmz.1_Missense_Mutation_p.K759T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.K784T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1192					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33936975	33936975	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33936975C>T	uc003jic.1	+	1	487	c.130C>T	c.(130-132)CAG>TAG	p.Q44*		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	44	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
AGXT2	64902	broad.mit.edu	37	5	35047947	35047947	+	Silent	SNP	G	A	A	rs144847973		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35047947G>A	uc003jjf.2	-	1	130	c.51C>T	c.(49-51)TCC>TCT	p.S17S	AGXT2_uc011com.1_Silent_p.S17S|AGXT2_uc011con.1_5'UTR	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	17					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)													---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35649490	35649490	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35649490G>A	uc003jjo.2	+	6	865	c.754G>A	c.(754-756)GAA>AAA	p.E252K	SPEF2_uc003jjn.1_Missense_Mutation_p.E252K|SPEF2_uc003jjq.3_Missense_Mutation_p.E252K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	252	Potential.				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)															---	---	---	---
NNT	23530	broad.mit.edu	37	5	43700241	43700241	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43700241C>A	uc003joe.2	+	20	3152	c.2897C>A	c.(2896-2898)GCA>GAA	p.A966E	NNT_uc003jof.2_Missense_Mutation_p.A966E	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	966	Mitochondrial matrix.|NADP.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---
C5orf36	285600	broad.mit.edu	37	5	93856182	93856182	+	Silent	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:93856182T>A	uc011cuk.1	-	5	998	c.741A>T	c.(739-741)ACA>ACT	p.T247T	C5orf36_uc003kkp.2_Silent_p.T247T	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	hypothetical protein LOC285600 isoform 1	247											0		all_cancers(142;2.12e-08)|all_epithelial(76;5.95e-11)|all_lung(232;0.000996)|Lung NSC(167;0.0108)|Ovarian(174;0.0218)|Colorectal(57;0.0329)|Breast(839;0.214)|Lung SC(612;0.236)		all cancers(79;3.96e-19)														---	---	---	---
FER	2241	broad.mit.edu	37	5	108295030	108295030	+	Silent	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108295030G>T	uc003kop.1	+	13	2022	c.1638G>T	c.(1636-1638)CTG>CTT	p.L546L	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Silent_p.L371L	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	546	SH2.				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)														---	---	---	---
FER	2241	broad.mit.edu	37	5	108295031	108295031	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:108295031C>T	uc003kop.1	+	13	2023	c.1639C>T	c.(1639-1641)CTG>TTG	p.L547L	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Silent_p.L372L	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	547	SH2.				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)														---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648460	127648460	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127648460T>G	uc003kuu.2	-	37	5184	c.4745A>C	c.(4744-4746)AAG>ACG	p.K1582T		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1582	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209052	140209052	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140209052A>G	uc003lho.2	+	1	1403	c.1376A>G	c.(1375-1377)GAG>GGG	p.E459G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.E459G|PCDHA6_uc011dab.1_Missense_Mutation_p.E459G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	459	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229433	140229433	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140229433C>T	uc003lhu.2	+	1	2077	c.1353C>T	c.(1351-1353)AAC>AAT	p.N451N	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.N451N	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	451	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)															---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140764204	140764204	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140764204C>A	uc003lka.1	+	1	1738	c.1738C>A	c.(1738-1740)CGC>AGC	p.R580S	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_uc003ljz.1_Missense_Mutation_p.R580S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	580	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
GPR151	134391	broad.mit.edu	37	5	145895420	145895420	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145895420G>T	uc003lod.1	-	1	257	c.257C>A	c.(256-258)TCC>TAC	p.S86Y		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	86	Helical; Name=2; (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)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169267776	169267776	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169267776C>T	uc003maf.2	+	27	2799	c.2719C>T	c.(2719-2721)CAT>TAT	p.H907Y	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.H399Y	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	907					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
ZFP2	80108	broad.mit.edu	37	5	178359587	178359587	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178359587C>A	uc003mjn.1	+	5	1782	c.1273C>A	c.(1273-1275)CTT>ATT	p.L425I	ZFP2_uc010jky.2_Missense_Mutation_p.L425I|ZFP2_uc010jkx.1_Missense_Mutation_p.L425I	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	425	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)														---	---	---	---
CLIC5	53405	broad.mit.edu	37	6	45870858	45870858	+	Silent	SNP	G	A	A	rs150143344		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:45870858G>A	uc003oxv.3	-	6	1306	c.1200C>T	c.(1198-1200)TAC>TAT	p.Y400Y	CLIC5_uc003oxu.3_Silent_p.Y241Y	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	400	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2																		---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50696949	50696949	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50696949G>T	uc003paf.2	+	5	1319	c.807G>T	c.(805-807)TTG>TTT	p.L269F	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	269							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51524237	51524237	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51524237A>C	uc003pah.1	-	61	10963	c.10687T>G	c.(10687-10689)TTG>GTG	p.L3563V		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3563	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51611659	51611659	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51611659A>C	uc003pah.1	-	59	10134	c.9858T>G	c.(9856-9858)AGT>AGG	p.S3286R	PKHD1_uc010jzn.1_Missense_Mutation_p.S1269R|PKHD1_uc003pai.2_Missense_Mutation_p.S3286R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3286	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---
DST	667	broad.mit.edu	37	6	56391317	56391317	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56391317T>G	uc003pdf.2	-	63	11642	c.11614A>C	c.(11614-11616)AAT>CAT	p.N3872H	DST_uc003pcz.3_Missense_Mutation_p.N3694H|DST_uc011dxj.1_Missense_Mutation_p.N3723H|DST_uc011dxk.1_Missense_Mutation_p.N3734H|DST_uc003pcy.3_Missense_Mutation_p.N3368H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5780					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)															---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72678732	72678732	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72678732A>G	uc003pga.2	+	2	288	c.211A>G	c.(211-213)AGA>GGA	p.R71G		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	71	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75797317	75797317	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:75797317G>C	uc003phs.2	-	65	9323	c.9157C>G	c.(9157-9159)CCA>GCA	p.P3053A	COL12A1_uc003pht.2_Missense_Mutation_p.P1889A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3053	Nonhelical region (NC1).				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																		---	---	---	---
SPACA1	81833	broad.mit.edu	37	6	88768524	88768524	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88768524T>G	uc003pmn.2	+	4	575	c.458T>G	c.(457-459)CTT>CGT	p.L153R		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor	153	Extracellular (Potential).					integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)														---	---	---	---
DDO	8528	broad.mit.edu	37	6	110734556	110734556	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110734556T>G	uc003puc.2	-	2	198	c.194A>C	c.(193-195)AAG>ACG	p.K65T	C6orf186_uc003pub.2_5'Flank|DDO_uc003pud.2_Missense_Mutation_p.K65T	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	37	FAD (By similarity).				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)														---	---	---	---
CDK19	23097	broad.mit.edu	37	6	110953224	110953224	+	Intron	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110953224C>T	uc003puh.1	-						CDK19_uc003pui.1_Intron|CDK19_uc011eax.1_Intron	NM_015076	NP_055891			cell division cycle 2-like 6 (CDK8-like)								ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
DCBLD1	285761	broad.mit.edu	37	6	117853437	117853437	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117853437C>G	uc003pxs.2	+	6	725	c.600C>G	c.(598-600)TGC>TGG	p.C200W	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.C200W	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	200	LCCL.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)														---	---	---	---
AKAP7	9465	broad.mit.edu	37	6	131520709	131520709	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131520709A>C	uc003qck.2	+	6	731	c.698A>C	c.(697-699)AAG>ACG	p.K233T	AKAP7_uc011ebz.1_Missense_Mutation_p.K211T|AKAP7_uc003qcl.1_Missense_Mutation_p.K114T	NM_016377	NP_057461	O43687	AKA7A_HUMAN	A-kinase anchor protein 7 isoform gamma	Error:Variant_position_missing_in_O43687_after_alignment					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			ovary(2)	2	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)												OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133783490	133783490	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133783490T>G	uc003qec.3	+	8	913	c.455T>G	c.(454-456)CTT>CGT	p.L152R	EYA4_uc011ecq.1_Missense_Mutation_p.L98R|EYA4_uc011ecr.1_Missense_Mutation_p.L98R|EYA4_uc003qed.3_Missense_Mutation_p.L152R|EYA4_uc003qee.3_Missense_Mutation_p.L129R|EYA4_uc011ecs.1_Missense_Mutation_p.L152R|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	152			L -> R (in a colorectal cancer sample; somatic mutation).		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	p.L152R(1)		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	136599308	136599308	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136599308A>C	uc003qgx.1	-	4	964	c.711T>G	c.(709-711)AGT>AGG	p.S237R	BCLAF1_uc003qgw.1_Missense_Mutation_p.S237R|BCLAF1_uc003qgy.1_Missense_Mutation_p.S235R|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S235R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	237					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)														---	---	---	---
LATS1	9113	broad.mit.edu	37	6	149982925	149982925	+	Silent	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149982925C>A	uc003qmu.1	-	8	3881	c.3333G>T	c.(3331-3333)TCG>TCT	p.S1111S	LATS1_uc010kif.1_Silent_p.S1006S	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	1111					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)														---	---	---	---
VIP	7432	broad.mit.edu	37	6	153076475	153076475	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153076475A>G	uc003qpe.2	+	4	474	c.302A>G	c.(301-303)AAG>AGG	p.K101R	VIP_uc003qpf.2_Missense_Mutation_p.K101R|VIP_uc010kjd.2_Missense_Mutation_p.K101R	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	101					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)														---	---	---	---
SLC29A4	222962	broad.mit.edu	37	7	5338715	5338715	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5338715G>A	uc003sod.2	+	8	1140	c.979G>A	c.(979-981)GTG>ATG	p.V327M	SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.V327M|SLC29A4_uc003soe.2_Missense_Mutation_p.V313M|SLC29A4_uc010ksw.2_RNA	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (nucleoside	327	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			liver(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)														---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11485942	11485942	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11485942T>A	uc003ssf.3	-	13	3062	c.2810A>T	c.(2809-2811)AAA>ATA	p.K937I		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	937	TSP type-1 9.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31132307	31132307	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31132307T>G	uc003tca.1	+	13	1227	c.1004T>G	c.(1003-1005)CTT>CGT	p.L335R	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.L314R|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.L335R|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.L335R|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.L335R|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.L37R	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	335	Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82582652	82582652	+	Silent	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82582652A>C	uc003uhx.2	-	5	7906	c.7617T>G	c.(7615-7617)ACT>ACG	p.T2539T	PCLO_uc003uhv.2_Silent_p.T2539T|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2470					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86522399	86522399	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86522399C>T	uc011kha.1	-	20	2888	c.2703G>A	c.(2701-2703)TGG>TGA	p.W901*	KIAA1324L_uc003uif.1_Nonsense_Mutation_p.W661*|KIAA1324L_uc011kgz.1_Nonsense_Mutation_p.W787*|KIAA1324L_uc003uie.2_Nonsense_Mutation_p.W734*	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	901	Extracellular (Potential).					integral to membrane				ovary(6)|skin(1)	7	Esophageal squamous(14;0.0058)																	---	---	---	---
Unknown	0	broad.mit.edu	37	7	100552437	100552437	+	RNA	SNP	A	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100552437A>T	uc003uxk.1	+	1		c.1688A>T			uc003uxl.1_Silent_p.S296S					Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.																														---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173313	126173313	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:126173313A>T	uc003vlr.2	-	8	2434	c.2123T>A	c.(2122-2124)CTT>CAT	p.L708H	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.L708H|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	708	Helical; Name=4; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)										HNSCC(24;0.065)			---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137271839	137271839	+	Intron	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137271839T>G	uc003vtt.2	-						DGKI_uc003vtu.2_Intron	NM_004717	NP_004708			diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146825791	146825791	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:146825791T>G	uc003weu.1	+	7	1462	c.946T>G	c.(946-948)TTT>GTT	p.F316V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	316	Laminin G-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---
GIMAP1	170575	broad.mit.edu	37	7	150417426	150417426	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150417426C>A	uc003whq.2	+	3	421	c.334C>A	c.(334-336)CCC>ACC	p.P112T	GIMAP1_uc003whp.2_Missense_Mutation_p.P120T	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	112	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150707215	150707215	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150707215C>T	uc003wif.2	+	21	2821	c.2525C>T	c.(2524-2526)CCC>CTC	p.P842L	NOS3_uc011kuy.1_Missense_Mutation_p.P636L	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	842	FAD-binding FR-type.				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)													---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62212731	62212731	+	Silent	SNP	T	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62212731T>C	uc003xuh.2	+	2	669	c.345T>C	c.(343-345)GAT>GAC	p.D115D	CLVS1_uc003xug.2_Silent_p.D115D|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.D115D	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	115					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5																		---	---	---	---
PRDM14	63978	broad.mit.edu	37	8	70981820	70981820	+	Silent	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70981820C>A	uc003xym.2	-	2	478	c.276G>T	c.(274-276)CTG>CTT	p.L92L		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)															---	---	---	---
PGCP	10404	broad.mit.edu	37	8	97797431	97797431	+	Silent	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:97797431A>G	uc003yhw.2	+	2	472	c.306A>G	c.(304-306)AAA>AAG	p.K102K	PGCP_uc010mbe.2_Silent_p.K102K	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	102					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)																	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100861067	100861067	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100861067T>G	uc003yiv.2	+	55	10192	c.10081T>G	c.(10081-10083)TTC>GTC	p.F3361V	VPS13B_uc003yiw.2_Missense_Mutation_p.F3336V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3361					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)															---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34506802	34506802	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34506802A>C	uc003zum.2	+	13	1434	c.1241A>C	c.(1240-1242)AAG>ACG	p.K414T		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	414	WD 1.				cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)										Kartagener_syndrome				---	---	---	---
IL11RA	3590	broad.mit.edu	37	9	34660279	34660279	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34660279C>G	uc003zvi.2	+	10	2317	c.961C>G	c.(961-963)CCA>GCA	p.P321A	IL11RA_uc011loq.1_Missense_Mutation_p.P321A|IL11RA_uc003zvj.2_Missense_Mutation_p.P321A|IL11RA_uc003zvk.2_Missense_Mutation_p.P321A|IL11RA_uc010mke.2_Missense_Mutation_p.P203A|IL11RA_uc003zvl.2_RNA	NM_004512	NP_004503	Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha isoform 1	321	Extracellular (Potential).					integral to plasma membrane	cytokine receptor activity			skin(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)													---	---	---	---
NIPSNAP3A	25934	broad.mit.edu	37	9	107513407	107513407	+	Silent	SNP	T	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107513407T>C	uc004bch.1	+	2	336	c.231T>C	c.(229-231)TTT>TTC	p.F77F	NIPSNAP3A_uc011lvt.1_Silent_p.F77F|NIPSNAP3A_uc011lvu.1_Silent_p.F77F	NM_015469	NP_056284	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A	77						cytosol					0																		---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899340	112899340	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112899340C>A	uc004bei.2	+	9	2404	c.2212C>A	c.(2212-2214)CAG>AAG	p.Q738K	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.Q506K|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.Q506K|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.Q316K|AKAP2_uc011lwi.1_Missense_Mutation_p.Q364K|AKAP2_uc004bem.2_Missense_Mutation_p.Q364K|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.Q324K|AKAP2_uc011lwj.1_Missense_Mutation_p.Q275K|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.Q275K	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	275	Potential.						enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6																		---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	119106909	119106909	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119106909C>A	uc004bjn.2	+	14	4080	c.3699C>A	c.(3697-3699)TAC>TAA	p.Y1233*	PAPPA_uc011lxq.1_Nonsense_Mutation_p.Y608*	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1233	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9																		---	---	---	---
PHF19	26147	broad.mit.edu	37	9	123620323	123620323	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123620323G>A	uc004bks.1	-	15	1895	c.1642C>T	c.(1642-1644)CGG>TGG	p.R548W	PHF19_uc011lyf.1_Missense_Mutation_p.R339W|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---
NACC2	138151	broad.mit.edu	37	9	138903451	138903451	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138903451A>G	uc004cgw.2	-	6	1831	c.1675T>C	c.(1675-1677)TTT>CTT	p.F559L	NACC2_uc010nbh.2_Missense_Mutation_p.F198L|uc004cgv.3_5'Flank	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	BTB (POZ) domain containing 14A	559					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body					0																		---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7214510	7214510	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7214510C>T	uc009xio.1	-	18	2189	c.2098G>A	c.(2098-2100)GTG>ATG	p.V700M	SFMBT2_uc001ijn.1_Missense_Mutation_p.V700M|SFMBT2_uc010qay.1_Missense_Mutation_p.V535M	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	700					regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7773950	7773950	+	Silent	SNP	G	A	A	rs150260189		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7773950G>A	uc001ijs.2	+	13	1800	c.1638G>A	c.(1636-1638)ACG>ACA	p.T546T		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
CCDC3	83643	broad.mit.edu	37	10	13040500	13040500	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13040500A>C	uc001ilq.1	-	2	521	c.387T>G	c.(385-387)AAT>AAG	p.N129K	CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_RNA|CCDC3_uc009xjc.1_Intron	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3 precursor	129						endoplasmic reticulum|extracellular region				ovary(1)	1		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)															---	---	---	---
PRTFDC1	56952	broad.mit.edu	37	10	25197604	25197604	+	Intron	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25197604C>T	uc001ise.1	-						PRTFDC1_uc010qdd.1_Intron|PRTFDC1_uc001isf.1_Intron|PRTFDC1_uc009xkm.1_Intron	NM_020200	NP_064585			phosphoribosyl transferase domain containing 1						adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			ovary(1)	1																		---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28348658	28348658	+	Nonsense_Mutation	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28348658T>A	uc001iua.1	-	16	1623	c.1219A>T	c.(1219-1221)AGA>TGA	p.R407*	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Nonsense_Mutation_p.R407*|MPP7_uc009xla.2_Nonsense_Mutation_p.R407*|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	407	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1																		---	---	---	---
LRRC18	474354	broad.mit.edu	37	10	50122166	50122166	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50122166T>G	uc001jhd.2	-	1	115	c.35A>C	c.(34-36)AAG>ACG	p.K12T	WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.K12T	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	12						cytoplasm				ovary(1)|pancreas(1)	2																		---	---	---	---
PLA2G12B	84647	broad.mit.edu	37	10	74714363	74714363	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74714363C>T	uc001jtf.1	-	1	148	c.81G>A	c.(79-81)ACG>ACA	p.T27T	PLA2G12B_uc009xqt.1_5'UTR|PLA2G12B_uc010qjz.1_Silent_p.T27T	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB precursor	27					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1	Prostate(51;0.0198)																	---	---	---	---
LIPF	8513	broad.mit.edu	37	10	90427343	90427343	+	Silent	SNP	T	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90427343T>C	uc001kfg.1	+	3	289	c.123T>C	c.(121-123)TAT>TAC	p.Y41Y	LIPF_uc009xtk.2_Silent_p.Y41Y|LIPF_uc001kfh.1_Silent_p.Y51Y|LIPF_uc010qmt.1_Silent_p.Y51Y|LIPF_uc010qmu.1_Silent_p.Y41Y	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	41					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)														---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111667564	111667564	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111667564A>C	uc001kyp.1	-	3	142	c.2T>G	c.(1-3)ATG>AGG	p.M1R	XPNPEP1_uc009xxt.1_Missense_Mutation_p.M44R|XPNPEP1_uc001kyq.1_5'UTR|XPNPEP1_uc010qrb.1_Missense_Mutation_p.M44R	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	1					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)														---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111667565	111667565	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:111667565T>A	uc001kyp.1	-	3	141	c.1A>T	c.(1-3)ATG>TTG	p.M1L	XPNPEP1_uc009xxt.1_Missense_Mutation_p.M44L|XPNPEP1_uc001kyq.1_5'UTR|XPNPEP1_uc010qrb.1_Missense_Mutation_p.M44L	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	1					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)														---	---	---	---
VWA2	340706	broad.mit.edu	37	10	116038622	116038622	+	Intron	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116038622C>T	uc001lbl.1	+						VWA2_uc001lbk.1_Intron|VWA2_uc009xyf.1_Intron	NM_198496	NP_940898			von Willebrand factor A domain containing 2							extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)														---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7982304	7982304	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7982304C>T	uc001mfv.1	-	2	872	c.855G>A	c.(853-855)ACG>ACA	p.T285T		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	285	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9087507	9087507	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9087507C>G	uc001mhh.1	-	7	861	c.781G>C	c.(781-783)GAG>CAG	p.E261Q	SCUBE2_uc001mhi.1_Missense_Mutation_p.E261Q|SCUBE2_uc001mhj.1_Missense_Mutation_p.E261Q	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	261						extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)														---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47712259	47712259	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47712259C>G	uc001ngg.2	-	9	1100	c.1000G>C	c.(1000-1002)GTA>CTA	p.V334L	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.V296L|AGBL2_uc001ngh.1_Missense_Mutation_p.V278L	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	334					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55340006	55340006	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55340006A>C	uc010rih.1	+	1	403	c.403A>C	c.(403-405)AGC>CGC	p.S135R		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)																---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872685	55872685	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55872685T>C	uc010riy.1	+	1	167	c.167T>C	c.(166-168)CTT>CCT	p.L56P		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)														HNSCC(53;0.14)			---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890015	55890015	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55890015T>C	uc001nii.1	+	1	167	c.167T>C	c.(166-168)CTT>CCT	p.L56P		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)																	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043388	56043388	+	Nonsense_Mutation	SNP	A	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043388A>T	uc001nio.1	+	1	274	c.274A>T	c.(274-276)AAA>TAA	p.K92*		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)																	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043389	56043389	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043389A>G	uc001nio.1	+	1	275	c.275A>G	c.(274-276)AAA>AGA	p.K92R		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)																	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043951	56043951	+	Silent	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043951T>G	uc001nio.1	+	1	837	c.837T>G	c.(835-837)ACT>ACG	p.T279T		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	279	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)																	---	---	---	---
ATG16L2	89849	broad.mit.edu	37	11	72533143	72533143	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72533143G>A	uc001otd.2	+	5	487	c.447G>A	c.(445-447)CAG>CAA	p.Q149Q	ATG16L2_uc010rrf.1_Intron|ATG16L2_uc001ote.2_Silent_p.Q43Q|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_5'Flank|ATG16L2_uc001otg.2_5'Flank|ATG16L2_uc009ytk.2_5'Flank	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	ATG16 autophagy related 16-like 2	149	Potential.				autophagy|protein transport	cytoplasm	protein binding				0			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)															---	---	---	---
FAM168A	23201	broad.mit.edu	37	11	73120596	73120596	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73120596G>A	uc001otz.1	-	7	837	c.558C>T	c.(556-558)GCC>GCT	p.A186A	FAM168A_uc001oty.1_Silent_p.A177A|FAM168A_uc009ytp.1_Intron	NM_015159	NP_055974	Q92567	F168A_HUMAN	hypothetical protein LOC23201	186											0																		---	---	---	---
ODZ4	26011	broad.mit.edu	37	11	78412964	78412964	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:78412964T>G	uc001ozl.3	-	28	5157	c.4694A>C	c.(4693-4695)AAG>ACG	p.K1565T	ODZ4_uc009yvb.1_Missense_Mutation_p.K149T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1565	NHL 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4																		---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92258062	92258062	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92258062C>A	uc001pdj.3	+	2	3572	c.3555C>A	c.(3553-3555)TAC>TAA	p.Y1185*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1185	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92533457	92533457	+	Silent	SNP	T	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92533457T>C	uc001pdj.3	+	9	7295	c.7278T>C	c.(7276-7278)TTT>TTC	p.F2426F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2426	Cadherin 22.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92533693	92533693	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92533693T>G	uc001pdj.3	+	9	7531	c.7514T>G	c.(7513-7515)GTG>GGG	p.V2505G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2505	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
LRTM2	654429	broad.mit.edu	37	12	1943438	1943438	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1943438C>T	uc001qjt.2	+	5	1470	c.664C>T	c.(664-666)CGC>TGC	p.R222C	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.R222C|LRTM2_uc010sdx.1_Missense_Mutation_p.R222C|LRTM2_uc001qjv.2_Translation_Start_Site	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	222	LRRCT.|Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)															---	---	---	---
PARP11	57097	broad.mit.edu	37	12	3938171	3938171	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3938171A>G	uc001qmk.1	-	2	207	c.152T>C	c.(151-153)GTT>GCT	p.V51A	PARP11_uc001qml.2_Missense_Mutation_p.V58A|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Intron|PARP11_uc001qmn.2_Intron	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	51	WWE.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)															---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7301586	7301586	+	Silent	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7301586C>A	uc001qsr.2	+	13	2144	c.1866C>A	c.(1864-1866)TCC>TCA	p.S622S	CLSTN3_uc001qss.2_Silent_p.S634S	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	622	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---
NECAP1	25977	broad.mit.edu	37	12	8242551	8242551	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8242551G>A	uc001qtx.2	+	2	193	c.115G>A	c.(115-117)GAC>AAC	p.D39N	NECAP1_uc001qty.2_5'UTR	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	39					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)														---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	8975277	8975277	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8975277G>A	uc001quz.3	+	1	128	c.30G>A	c.(28-30)TTG>TTA	p.L10L		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	Error:Variant_position_missing_in_B3KVV6_after_alignment						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18435597	18435597	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:18435597G>A	uc001rdt.2	+	2	698	c.582G>A	c.(580-582)AGG>AGA	p.R194R	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.R194R|PIK3C2G_uc010sic.1_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	194					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)																---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22012610	22012610	+	Intron	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22012610A>G	uc001rfi.1	-						ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682			ATP-binding cassette, sub-family C, member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
BICD1	636	broad.mit.edu	37	12	32481244	32481244	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32481244C>A	uc001rku.2	+	5	1936	c.1855C>A	c.(1855-1857)CGC>AGC	p.R619S	BICD1_uc001rkv.2_Missense_Mutation_p.R619S|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	619					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)															---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47172533	47172533	+	Silent	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:47172533G>T	uc001rpi.2	-	11	1143	c.744C>A	c.(742-744)CCC>CCA	p.P248P	SLC38A4_uc001rpj.2_Silent_p.P248P	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	248	Extracellular (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)																	---	---	---	---
OR10AD1	121275	broad.mit.edu	37	12	48596871	48596871	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48596871G>A	uc001rrl.1	-	1	205	c.205C>T	c.(205-207)CTC>TTC	p.L69F		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
FAM19A2	338811	broad.mit.edu	37	12	62147441	62147441	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62147441A>G	uc001sqw.2	-	4	1859	c.346T>C	c.(346-348)TGG>CGG	p.W116R	FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.W116R|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine	116						cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)														---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78582113	78582113	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78582113G>T	uc001syp.2	+	32	6049	c.5876G>T	c.(5875-5877)CGT>CTT	p.R1959L	NAV3_uc001syo.2_Missense_Mutation_p.R1937L|NAV3_uc010sub.1_Missense_Mutation_p.R1416L|NAV3_uc009zsf.2_Missense_Mutation_p.R768L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1959						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)			---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113600965	113600965	+	Missense_Mutation	SNP	G	A	A	rs146871883	byFrequency	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113600965G>A	uc001tup.2	-	16	2081	c.2053C>T	c.(2053-2055)CGG>TGG	p.R685W	DDX54_uc001tuq.3_Missense_Mutation_p.R685W	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	685					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
FGF9	2254	broad.mit.edu	37	13	22275428	22275428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:22275428C>T	uc001uog.2	+	3	1318	c.481C>T	c.(481-483)CGA>TGA	p.R161*		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	161					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)														---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28608309	28608309	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28608309C>T	uc001urw.2	-	14	1829	c.1747G>A	c.(1747-1749)GGC>AGC	p.G583S	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.G583S	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	583	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.T582_G583ins14(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)			Mis|O		AML|ALL								---	---	---	---
ENOX1	55068	broad.mit.edu	37	13	43896619	43896619	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:43896619T>A	uc001uza.3	-	11	1462	c.1162A>T	c.(1162-1164)AGT>TGT	p.S388C	ENOX1_uc001uzb.3_Missense_Mutation_p.S388C|ENOX1_uc001uzc.3_Missense_Mutation_p.S388C|ENOX1_uc001uyz.3_Translation_Start_Site|ENOX1_uc010tfm.1_Missense_Mutation_p.S201C	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	388					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)														---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454671	84454671	+	Silent	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:84454671C>A	uc001vlk.2	-	1	1858	c.972G>T	c.(970-972)GCG>GCT	p.A324A		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	324	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)														---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92051379	92051379	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:92051379G>A	uc010tif.1	+	1	445	c.79G>A	c.(79-81)GTG>ATG	p.V27M		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	27						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)																---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216435	20216435	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20216435G>T	uc010tkt.1	+	1	849	c.849G>T	c.(847-849)TTG>TTT	p.L283F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR11H4	390442	broad.mit.edu	37	14	20711092	20711092	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20711092A>C	uc010tld.1	+	1	142	c.142A>C	c.(142-144)ACC>CCC	p.T48P		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	48	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)														---	---	---	---
MUDENG	55745	broad.mit.edu	37	14	57741028	57741028	+	Silent	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57741028A>G	uc001xcv.2	+	2	568	c.141A>G	c.(139-141)GAA>GAG	p.E47E	MUDENG_uc001xcu.3_Silent_p.E47E|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_5'UTR	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	47					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1																		---	---	---	---
MNAT1	4331	broad.mit.edu	37	14	61346450	61346450	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61346450G>C	uc001xfd.2	+	7	817	c.706G>C	c.(706-708)GCA>CCA	p.A236P	MNAT1_uc001xfe.2_Missense_Mutation_p.A194P	NM_002431	NP_002422	P51948	MAT1_HUMAN	menage a trois 1 (CAK assembly factor)	236					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|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	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			ovary(1)|lung(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0174)									Direct_reversal_of_damage|NER					---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174582	63174582	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63174582T>G	uc001xfx.2	-	11	2662	c.2611A>C	c.(2611-2613)AGT>CGT	p.S871R	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	871	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)														---	---	---	---
PROX2	283571	broad.mit.edu	37	14	75321889	75321889	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75321889C>T	uc001xqr.1	-	4	1725	c.1725G>A	c.(1723-1725)TCG>TCA	p.S575S	uc001xqp.1_5'Flank|PROX2_uc001xqq.1_Silent_p.S274S	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	575	Prospero-like.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)														---	---	---	---
POMT2	29954	broad.mit.edu	37	14	77745169	77745169	+	Silent	SNP	G	A	A	rs141193672	byFrequency	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77745169G>A	uc001xti.2	-	19	2136	c.1935C>T	c.(1933-1935)CTC>CTT	p.L645L	POMT2_uc001xth.1_Silent_p.L343L	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	645	Helical; (Potential).				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)														---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81943368	81943368	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81943368C>T	uc010tvv.1	-	21	2450	c.2333G>A	c.(2332-2334)CGG>CAG	p.R778Q		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	778	Pro-rich.|Mediates retention to the endoplasmic reticulum.|Cytoplasmic (Potential).				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)														---	---	---	---
C15orf2	23742	broad.mit.edu	37	15	24921536	24921536	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:24921536C>T	uc001ywo.2	+	1	996	c.522C>T	c.(520-522)GAC>GAT	p.D174D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	174					cell differentiation|multicellular organismal development|spermatogenesis			p.D174D(1)		ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34021233	34021233	+	Intron	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34021233T>G	uc001zhi.2	+						RYR3_uc010bar.2_Intron	NM_001036	NP_001027			ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48057176	48057176	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48057176A>T	uc010bek.2	+	13	1710	c.1350A>T	c.(1348-1350)AAA>AAT	p.K450N	SEMA6D_uc001zvw.2_Missense_Mutation_p.K450N|SEMA6D_uc001zvx.1_Missense_Mutation_p.K450N|SEMA6D_uc001zvy.2_Missense_Mutation_p.K450N|SEMA6D_uc001zvz.2_Missense_Mutation_p.K450N|SEMA6D_uc001zwa.2_Missense_Mutation_p.K450N|SEMA6D_uc001zwb.2_Missense_Mutation_p.K450N|SEMA6D_uc001zwc.2_Missense_Mutation_p.K450N	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	450	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48789456	48789456	+	Intron	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48789456T>G	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)														---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50901825	50901825	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50901825A>C	uc001zyt.3	-	19	2797	c.2533T>G	c.(2533-2535)TTT>GTT	p.F845V	TRPM7_uc010bew.1_Missense_Mutation_p.F845V|TRPM7_uc001zyu.2_Missense_Mutation_p.F403V	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	845	Extracellular (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51750813	51750813	+	Silent	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51750813A>G	uc002abf.2	-	35	8247	c.8022T>C	c.(8020-8022)AAT>AAC	p.N2674N	DMXL2_uc002abd.2_Silent_p.N766N|DMXL2_uc010ufy.1_Silent_p.N2675N|DMXL2_uc010bfa.2_Silent_p.N2038N	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2674						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
GCOM1	145781	broad.mit.edu	37	15	57929881	57929881	+	Intron	SNP	T	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:57929881T>A	uc002aei.2	+						GCOM1_uc002aej.2_Intron|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_Intron|GCOM1_uc002aem.2_Intron|GCOM1_uc002aeq.2_Intron|GCOM1_uc002aen.2_Intron|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Intron|GCOM1_uc002aep.2_Intron|GCOM1_uc010bfx.2_Intron	NM_001018100	NP_001018110			GRINL1A upstream protein isoform 7						intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1																		---	---	---	---
RORA	6095	broad.mit.edu	37	15	60795067	60795067	+	Splice_Site	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:60795067C>T	uc002agv.2	-	9	1331	c.1175_splice	c.e9-1	p.G392_splice	uc002ags.1_Intron|RORA_uc002agt.3_Splice_Site_p.G304_splice|RORA_uc002agw.2_Splice_Site_p.G384_splice|RORA_uc002agx.2_Splice_Site_p.G359_splice	NM_134260	NP_599022			RAR-related orphan receptor A isoform b						positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2																		---	---	---	---
CILP	8483	broad.mit.edu	37	15	65489069	65489069	+	Nonstop_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65489069T>G	uc002aon.2	-	9	3736	c.3555A>C	c.(3553-3555)TAA>TAC	p.*1185Y		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	1185					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7																		---	---	---	---
CILP	8483	broad.mit.edu	37	15	65494254	65494254	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65494254T>G	uc002aon.2	-	8	1323	c.1142A>C	c.(1141-1143)GAT>GCT	p.D381A		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	381	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7																		---	---	---	---
CHRNA5	1138	broad.mit.edu	37	15	78882650	78882650	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78882650C>T	uc002bdy.2	+	5	1079	c.917C>T	c.(916-918)TCT>TTT	p.S306F	CHRNA5_uc002bdz.2_Intron	NM_000745	NP_000736	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5	306					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86790989	86790989	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86790989A>T	uc002blz.1	+	6	556	c.476A>T	c.(475-477)AAC>ATC	p.N159I		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	159					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0																		---	---	---	---
ISG20	3669	broad.mit.edu	37	15	89198676	89198676	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89198676G>C	uc002bmv.1	+	4	753	c.460G>C	c.(460-462)GAT>CAT	p.D154H	ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease	154					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity				0	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)															---	---	---	---
SPATA8	145946	broad.mit.edu	37	15	97327407	97327407	+	Silent	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:97327407A>G	uc002bue.2	+	2	324	c.114A>G	c.(112-114)GAA>GAG	p.E38E	uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	38										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)															---	---	---	---
WDR90	197335	broad.mit.edu	37	16	716300	716300	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:716300A>G	uc002cii.1	+	37	4744	c.4690A>G	c.(4690-4692)AGT>GGT	p.S1564G	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.S179G|WDR90_uc010uul.1_Missense_Mutation_p.S163G|WDR90_uc002cio.1_Missense_Mutation_p.S163G|WDR90_uc010bqx.1_Missense_Mutation_p.S163G|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1564										ovary(1)	1		Hepatocellular(780;0.0218)																---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2814700	2814700	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2814700G>A	uc002crk.2	+	11	4720	c.4171G>A	c.(4171-4173)GTG>ATG	p.V1391M	SRRM2_uc002crj.1_Missense_Mutation_p.V1295M|SRRM2_uc002crl.1_Missense_Mutation_p.V1391M|SRRM2_uc010bsu.1_Missense_Mutation_p.V1295M	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1391	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MMP25	64386	broad.mit.edu	37	16	3100341	3100341	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3100341A>C	uc002cth.2	+	4	692	c.455A>C	c.(454-456)GAG>GCG	p.E152A	MMP25_uc002cti.1_Missense_Mutation_p.E88A	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	152					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---
C16orf78	123970	broad.mit.edu	37	16	49407930	49407930	+	Missense_Mutation	SNP	G	A	A	rs144505396	byFrequency;by1000genomes	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49407930G>A	uc002efr.2	+	1	123	c.80G>A	c.(79-81)CGC>CAC	p.R27H		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	27										central_nervous_system(1)	1																		---	---	---	---
WDR59	79726	broad.mit.edu	37	16	74943480	74943480	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74943480G>A	uc002fdh.1	-	16	1663	c.1561C>T	c.(1561-1563)CGG>TGG	p.R521W	WDR59_uc002fdi.2_Missense_Mutation_p.R521W|WDR59_uc002fdg.1_Missense_Mutation_p.R113W	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	521										ovary(1)|breast(1)	2																		---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6483160	6483160	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6483160T>G	uc002gde.3	-	19	3170	c.2811A>C	c.(2809-2811)GAA>GAC	p.E937D	KIAA0753_uc010vtd.1_Missense_Mutation_p.E393D|KIAA0753_uc010clo.2_Missense_Mutation_p.E638D|KIAA0753_uc010vte.1_Missense_Mutation_p.E638D	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	937						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)														---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578395G>A	uc002gim.2	-	5	729	c.535C>T	c.(535-537)CAT>TAT	p.H179Y	TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	179	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)			---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10367883	10367883	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10367883T>G	uc002gmn.2	-	7	665	c.554A>C	c.(553-555)AAG>ACG	p.K185T	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	185	Myosin head-like.|ATP (Potential).				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13																		---	---	---	---
FLII	2314	broad.mit.edu	37	17	18149175	18149175	+	Intron	SNP	G	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18149175G>C	uc002gsr.1	-						FLII_uc002gsq.1_Intron|FLII_uc010cpy.1_Intron|FLII_uc010vxn.1_Intron|FLII_uc010vxo.1_Intron	NM_002018	NP_002009			flightless I homolog						multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)																	---	---	---	---
C17orf63	55731	broad.mit.edu	37	17	27085347	27085347	+	Silent	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27085347G>T	uc002hct.1	-	3	1897	c.1630C>A	c.(1630-1632)CGA>AGA	p.R544R	C17orf63_uc010wax.1_Silent_p.R544R|C17orf63_uc010way.1_Silent_p.R544R|C17orf63_uc002hcw.2_Silent_p.R416R	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	544										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)															---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959445	27959445	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27959445G>A	uc002heo.1	-	15	2686	c.2686C>T	c.(2686-2688)CGT>TGT	p.R896C	SSH2_uc010wbh.1_Missense_Mutation_p.R923C	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	896					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2																		---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38421332	38421332	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38421332G>T	uc002hug.1	+	5	1144	c.904G>T	c.(904-906)GCC>TCC	p.A302S	WIPF2_uc002huh.1_Missense_Mutation_p.A152S|WIPF2_uc010cww.1_Missense_Mutation_p.A152S|WIPF2_uc002hui.1_Missense_Mutation_p.A302S|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.A302S	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	302						cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3															HNSCC(43;0.11)			---	---	---	---
CDK5RAP3	80279	broad.mit.edu	37	17	46053335	46053335	+	Silent	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46053335C>A	uc002imr.2	+	8	838	c.754C>A	c.(754-756)CGA>AGA	p.R252R	CDK5RAP3_uc010wlc.1_Silent_p.R272R|CDK5RAP3_uc002imq.1_Silent_p.R27R|CDK5RAP3_uc002imu.2_Silent_p.R96R|CDK5RAP3_uc002ims.2_Silent_p.R165R|CDK5RAP3_uc002imv.2_Silent_p.R96R|CDK5RAP3_uc002imw.2_Silent_p.R96R|CDK5RAP3_uc002imx.2_Silent_p.R27R	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	252					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0																		---	---	---	---
NGFR	4804	broad.mit.edu	37	17	47590140	47590140	+	Silent	SNP	C	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47590140C>G	uc002ioz.3	+	6	1178	c.1053C>G	c.(1051-1053)CTC>CTG	p.L351L		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	351	Cytoplasmic (Potential).|Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)																	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48271380	48271380	+	Missense_Mutation	SNP	C	T	T	rs1800211		TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48271380C>T	uc002iqm.2	-	25	1817	c.1691G>A	c.(1690-1692)CGC>CAC	p.R564H		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	564	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						---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76087561	76087561	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76087561G>T	uc002jud.2	+	15	4443	c.3843G>T	c.(3841-3843)ATG>ATT	p.M1281I	TNRC6C_uc002juf.2_Missense_Mutation_p.M1278I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1281					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)															---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	6237955	6237955	+	Intron	SNP	C	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6237955C>G	uc002kmz.3	-						L3MBTL4_uc010dkt.2_Intron|L3MBTL4_uc002kmy.3_Intron	NM_173464	NP_775735			l(3)mbt-like 4						chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)																---	---	---	---
SMAD2	4087	broad.mit.edu	37	18	45374881	45374881	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:45374881C>T	uc002lcy.2	-	8	1210	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	SMAD2_uc002lcz.2_Missense_Mutation_p.R321Q|SMAD2_uc010xdc.1_Missense_Mutation_p.R291Q|SMAD2_uc010xdd.1_Missense_Mutation_p.R291Q	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	321	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72343302	72343302	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72343302T>G	uc002llw.2	+	1	384	c.327T>G	c.(325-327)GAT>GAG	p.D109E	ZNF407_uc010xfc.1_Missense_Mutation_p.D109E|ZNF407_uc010dqu.1_Missense_Mutation_p.D109E|ZNF407_uc002llu.2_Missense_Mutation_p.D108E	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)														---	---	---	---
RFX2	5990	broad.mit.edu	37	19	6040129	6040129	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6040129G>A	uc002meb.2	-	5	653	c.384C>T	c.(382-384)CCC>CCT	p.P128P	RFX2_uc002mec.2_Silent_p.P128P|RFX2_uc010xiy.1_Silent_p.P83P	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9046975	9046975	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9046975A>C	uc002mkp.2	-	5	34860	c.34656T>G	c.(34654-34656)AGT>AGG	p.S11552R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11554	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9069389	9069389	+	Silent	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9069389G>T	uc002mkp.2	-	3	18261	c.18057C>A	c.(18055-18057)ACC>ACA	p.T6019T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6021	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9088917	9088917	+	Silent	SNP	A	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9088917A>T	uc002mkp.2	-	1	3102	c.2898T>A	c.(2896-2898)ACT>ACA	p.T966T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	966	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
ZNF317	57693	broad.mit.edu	37	19	9271896	9271896	+	Silent	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9271896G>T	uc002mku.2	+	7	1850	c.1575G>T	c.(1573-1575)ACG>ACT	p.T525T	ZNF317_uc002mkv.2_Silent_p.T384T|ZNF317_uc002mkw.2_Silent_p.T493T|ZNF317_uc002mkx.2_Silent_p.T440T|ZNF317_uc002mky.2_Silent_p.T408T	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
FAM129C	199786	broad.mit.edu	37	19	17657570	17657570	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17657570G>A	uc010xpr.1	+	14	1861	c.1723G>A	c.(1723-1725)GTC>ATC	p.V575I	FAM129C_uc010xpq.1_Missense_Mutation_p.V575I|FAM129C_uc002ngy.3_Missense_Mutation_p.V301I|FAM129C_uc010xpu.1_Missense_Mutation_p.V301I|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.V265I	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	575											0																		---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21132661	21132661	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21132661T>G	uc002npg.3	+	4	1468	c.1341T>G	c.(1339-1341)ATT>ATG	p.I447M	ZNF85_uc010ecn.2_Missense_Mutation_p.I382M|ZNF85_uc010eco.2_Missense_Mutation_p.I395M|ZNF85_uc002npi.2_Missense_Mutation_p.I388M	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	447	C2H2-type 11; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22574931	22574931	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22574931T>G	uc002nqt.2	-	4	1228	c.1106A>C	c.(1105-1107)AAG>ACG	p.K369T		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	369	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)																---	---	---	---
C19orf40	91442	broad.mit.edu	37	19	33464169	33464169	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33464169G>T	uc002nud.3	+	2	185	c.67G>T	c.(67-69)GAG>TAG	p.E23*	CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Fanconi anemia-associated protein, 24 kDa	23					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding				0	Esophageal squamous(110;0.137)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks					---	---	---	---
C19orf40	91442	broad.mit.edu	37	19	33464171	33464171	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33464171G>A	uc002nud.3	+	2	187	c.69G>A	c.(67-69)GAG>GAA	p.E23E	CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Fanconi anemia-associated protein, 24 kDa	23					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding				0	Esophageal squamous(110;0.137)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks					---	---	---	---
ZFP82	284406	broad.mit.edu	37	19	36884051	36884051	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36884051C>T	uc002ody.1	-	5	1426	c.1191G>A	c.(1189-1191)AAG>AAA	p.K397K		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	397	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
GIPR	2696	broad.mit.edu	37	19	46174616	46174616	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46174616G>A	uc002pcu.1	+	4	345	c.246G>A	c.(244-246)GCG>GCA	p.A82A	GIPR_uc002pct.1_Silent_p.A82A|GIPR_uc010xxp.1_Intron|GIPR_uc010xxq.1_RNA	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	82	Extracellular (Potential).				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)														---	---	---	---
MYBPC2	4606	broad.mit.edu	37	19	50958830	50958830	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50958830A>G	uc002psf.2	+	20	2318	c.2267A>G	c.(2266-2268)AAG>AGG	p.K756R		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	756	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)														---	---	---	---
VSTM1	284415	broad.mit.edu	37	19	54544331	54544331	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54544331C>T	uc002qcw.3	-	9	771	c.595G>A	c.(595-597)GCA>ACA	p.A199T	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.A168T	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	199						integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)														---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55107775	55107775	+	Silent	SNP	G	T	T	rs59777368	byFrequency	TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55107775G>T	uc002qgh.1	+	7	1262	c.1080G>T	c.(1078-1080)GCG>GCT	p.A360A	LILRA2_uc010yfg.1_Silent_p.A358A|LILRA1_uc010yfh.1_Silent_p.A360A	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	360	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)														---	---	---	---
SUV420H2	84787	broad.mit.edu	37	19	55856048	55856048	+	Intron	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55856048G>A	uc002qkj.3	+						SUV420H2_uc002qkl.2_Intron	NM_032701	NP_116090			suppressor of variegation 4-20 homolog 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding				0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)														---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327776	57327776	+	Silent	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57327776A>C	uc002qnu.2	-	7	2385	c.2034T>G	c.(2032-2034)ACT>ACG	p.T678T	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.T649T|PEG3_uc002qnv.2_Silent_p.T678T|PEG3_uc002qnw.2_Silent_p.T554T|PEG3_uc002qnx.2_Silent_p.T552T|PEG3_uc010etr.2_Silent_p.T678T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	678					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18531753	18531753	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18531753C>T	uc002wqz.1	+	17	2369	c.1926C>T	c.(1924-1926)AGC>AGT	p.S642S	SEC23B_uc002wra.1_Silent_p.S642S|SEC23B_uc002wrb.1_Silent_p.S642S|SEC23B_uc010zsb.1_Silent_p.S624S|SEC23B_uc002wrc.1_Silent_p.S642S	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	642					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
CST2	1470	broad.mit.edu	37	20	23804666	23804666	+	Silent	SNP	T	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23804666T>C	uc002wtq.1	-	3	432	c.417A>G	c.(415-417)CAA>CAG	p.Q139Q		NM_001322	NP_001313	P09228	CYTT_HUMAN	cystatin SA precursor	139						extracellular region	cysteine-type endopeptidase inhibitor activity				0																		---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40080585	40080585	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40080585C>A	uc002xka.1	-	22	3582	c.3404G>T	c.(3403-3405)CGT>CTT	p.R1135L		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1135					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)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40944533	40944533	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40944533T>C	uc002xkg.2	-	12	2153	c.1969A>G	c.(1969-1971)AGC>GGC	p.S657G	PTPRT_uc010ggj.2_Missense_Mutation_p.S657G	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	657	Extracellular (Potential).|Fibronectin type-III 4.				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)																---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45130817	45130817	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45130817G>A	uc002xsc.2	-	5	1345	c.1161C>T	c.(1159-1161)TTC>TTT	p.F387F	ZNF334_uc002xsa.2_Silent_p.F410F|ZNF334_uc002xsb.2_Silent_p.F349F|ZNF334_uc002xsd.2_Silent_p.F349F|ZNF334_uc010ghl.2_Silent_p.F386F	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	387	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58411616	58411616	+	Splice_Site	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58411616G>A	uc002yau.2	+	9	1851	c.1384_splice	c.e9+1	p.Q462_splice	PHACTR3_uc002yat.2_Splice_Site_p.Q459_splice|PHACTR3_uc010zzw.1_Splice_Site_p.Q421_splice|PHACTR3_uc002yav.2_Splice_Site_p.Q421_splice|PHACTR3_uc002yaw.2_Splice_Site_p.Q421_splice|PHACTR3_uc002yax.2_Splice_Site_p.Q351_splice|PHACTR3_uc002yay.2_Splice_Site_p.Q31_splice	NM_080672	NP_542403			phosphatase and actin regulator 3 isoform 1							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)															---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60427821	60427821	+	Silent	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60427821C>T	uc002ybn.1	+	6	758	c.744C>T	c.(742-744)CAC>CAT	p.H248H	CDH4_uc002ybp.1_Silent_p.H174H	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	248	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)															---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62039791	62039791	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62039791C>T	uc002yey.1	-	16	2039	c.1862G>A	c.(1861-1863)GGA>GAA	p.G621E	KCNQ2_uc002yez.1_Missense_Mutation_p.G590E|KCNQ2_uc002yfa.1_Missense_Mutation_p.G603E|KCNQ2_uc002yfb.1_Missense_Mutation_p.G593E	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	621	Cytoplasmic (Potential).				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)													---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62853334	62853334	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62853334G>A	uc002yii.2	+	14	2694	c.2330G>A	c.(2329-2331)GGG>GAG	p.G777E	MYT1_uc002yih.2_Missense_Mutation_p.G479E|MYT1_uc002yij.2_Missense_Mutation_p.G436E	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	777					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)																	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17662401	17662401	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17662401T>G	uc002zmk.1	-	9	1720	c.1508A>C	c.(1507-1509)AAG>ACG	p.K503T	CECR1_uc010gqu.1_Missense_Mutation_p.K503T|CECR1_uc011agi.1_Missense_Mutation_p.K461T|CECR1_uc002zmj.1_Missense_Mutation_p.K262T	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	503					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)																---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18324716	18324716	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18324716G>A	uc002zng.3	-	20	3026	c.2673C>T	c.(2671-2673)ATC>ATT	p.I891I	MICAL3_uc011agl.1_Silent_p.I891I|MICAL3_uc002znh.2_Silent_p.I891I|MICAL3_uc002znj.1_Silent_p.I619I|MICAL3_uc002znk.1_Silent_p.I891I|MICAL3_uc002znl.1_Silent_p.I524I	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	891	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)														---	---	---	---
BCR	613	broad.mit.edu	37	22	23630364	23630364	+	Intron	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23630364G>T	uc002zww.2	+						BCR_uc002zwx.2_Intron|BCR_uc011aiy.1_Intron|BCR_uc002zwy.1_Intron	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								---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21670583	21670583	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21670583G>C	uc004czx.1	+	22	3085	c.3049G>C	c.(3049-3051)GAT>CAT	p.D1017H	CNKSR2_uc011mjo.1_Missense_Mutation_p.D987H	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	1017					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2																		---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212089	26212089	+	Silent	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26212089A>C	uc004dbr.2	+	2	275	c.126A>C	c.(124-126)TCA>TCC	p.S42S	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	42	Ser-rich.									ovary(3)	3																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	32662249	32662249	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32662249T>G	uc004dda.1	-	11	1575	c.1331A>C	c.(1330-1332)AAT>ACT	p.N444T	DMD_uc004dcz.2_Missense_Mutation_p.N321T|DMD_uc004dcy.1_Missense_Mutation_p.N440T|DMD_uc004ddb.1_Missense_Mutation_p.N436T|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.N436T|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	444	Spectrin 1.				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)																---	---	---	---
FAM46D	169966	broad.mit.edu	37	X	79698243	79698243	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79698243A>C	uc004edl.1	+	5	539	c.205A>C	c.(205-207)AGT>CGT	p.S69R	FAM46D_uc004edm.1_Missense_Mutation_p.S69R	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	69										lung(2)	2																		---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91131988	91131988	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91131988A>G	uc004efk.1	+	2	1594	c.749A>G	c.(748-750)AAG>AGG	p.K250R	PCDH11X_uc004efl.1_Missense_Mutation_p.K250R|PCDH11X_uc004efo.1_Missense_Mutation_p.K250R|PCDH11X_uc010nmv.1_Missense_Mutation_p.K250R|PCDH11X_uc004efm.1_Missense_Mutation_p.K250R|PCDH11X_uc004efn.1_Missense_Mutation_p.K250R|PCDH11X_uc004efh.1_Missense_Mutation_p.K250R|PCDH11X_uc004efj.1_Missense_Mutation_p.K250R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	250	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2																		---	---	---	---
NRK	203447	broad.mit.edu	37	X	105153078	105153078	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105153078A>G	uc004emd.2	+	13	1748	c.1445A>G	c.(1444-1446)CAG>CGG	p.Q482R	NRK_uc010npc.1_Missense_Mutation_p.Q150R	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	482	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299786	125299786	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125299786T>G	uc004euk.1	-	1	149	c.122A>C	c.(121-123)AAG>ACG	p.K41T		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	41										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7																		---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130417042	130417042	+	Silent	SNP	G	A	A			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130417042G>A	uc004ewd.2	-	6	1102	c.864C>T	c.(862-864)ATC>ATT	p.I288I	IGSF1_uc004ewe.3_Silent_p.I277I|IGSF1_uc004ewf.2_Silent_p.I268I	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	288	Ig-like C2-type 3.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138689844	138689844	+	Intron	SNP	G	T	T			TCGA-CG-4444-01A-01D-1158-08	TCGA-CG-4444-10A-01D-1158-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138689844G>T	uc004fau.2	-						MCF2_uc004fav.2_Intron|MCF2_uc011mwl.1_Intron|MCF2_uc010nsh.1_Intron|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Intron|MCF2_uc011mwo.1_Intron	NM_005369	NP_005360			MCF.2 cell line derived transforming sequence						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
