Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	MUTSIG_Significant_Genes	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
OR1S1	219959	broad.mit.edu	37	11	57982498	57982499	+	Missense_Mutation	DNP	GC	CT	CT			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57982498_57982499GC>CT	uc010rkc.1	+	1	282_283	c.282_283GC>CT	c.(280-285)ATGCTG>ATCTTG	p.M94I		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)																---	---	---	---	capture		Missense_Mutation	DNP	57982498	57982499	11378	11	GC	CT	CT	46	46	OR1S1	CT	3	3
OR4N2	390429	broad.mit.edu	37	14	20296217	20296218	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20296217_20296218GG>TT	uc010tkv.1	+	1	610_611	c.610_611GG>TT	c.(610-612)GGC>TTC	p.G204F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Missense_Mutation	DNP	20296217	20296218	11487	14	GG	TT	TT	47	47	OR4N2	TT	2	2
KIF19	124602	broad.mit.edu	37	17	72349680	72349681	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72349680_72349681CA>AG	uc002jkm.3	+	17	2406_2407	c.2268_2269CA>AG	c.(2266-2271)GACAGC>GAAGGC	p.756_757DS>EG		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	756_757					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0																		---	---	---	---	capture		Missense_Mutation	DNP	72349680	72349681	8593	17	CA	AG	AG	17	17	KIF19	AG	2	2
REG1B	5968	broad.mit.edu	37	2	79312409	79312410	+	Splice_Site	DNP	CC	AA	AA			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79312409_79312410CC>AA	uc002sny.2	-	6	546	c.434_splice	c.e6-1	p.G145_splice		NM_006507	NP_006498			regenerating islet-derived 1 beta precursor						cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Splice_Site	DNP	79312409	79312410	13680	2	CC	AA	AA	30	30	REG1B	AA	5	2
PDCL3	79031	broad.mit.edu	37	2	101185427	101185428	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101185427_101185428GG>TT	uc002tao.2	+	3	280_281	c.168_169GG>TT	c.(166-171)CTGGAG>CTTTAG	p.E57*		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	57					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0																		---	---	---	---	capture		Nonsense_Mutation	DNP	101185427	101185428	12049	2	GG	TT	TT	47	47	PDCL3	TT	5	2
TTN	7273	broad.mit.edu	37	2	179497021	179497022	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179497021_179497022GG>TT	uc010zfg.1	-	185	36119_36120	c.35895_35896CC>AA	c.(35893-35898)GACCAG>GAAAAG	p.11965_11966DQ>EK	TTN_uc010zfh.1_Missense_Mutation_p.5660_5661DQ>EK|TTN_uc010zfi.1_Missense_Mutation_p.5593_5594DQ>EK|TTN_uc010zfj.1_Missense_Mutation_p.5468_5469DQ>EK	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12892_12893							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)															---	---	---	---	capture		Missense_Mutation	DNP	179497021	179497022	17290	2	GG	TT	TT	47	47	TTN	TT	2	2
AQPEP	206338	broad.mit.edu	37	5	115336143	115336144	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115336143_115336144CC>AA	uc003kro.2	+	8	1693_1694	c.1529_1530CC>AA	c.(1528-1530)GCC>GAA	p.A510E	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	510	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	DNP	115336143	115336144	845	5	CC	AA	AA	26	26	AQPEP	AA	2	2
COL22A1	169044	broad.mit.edu	37	8	139790639	139790640	+	Missense_Mutation	DNP	CC	GA	GA			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139790639_139790640CC>GA	uc003yvd.2	-	15	2161_2162	c.1714_1715GG>TC	c.(1714-1716)GGA>TCA	p.G572S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	572	Pro-rich.|Gly-rich.|Collagen-like 3.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)												HNSCC(7;0.00092)			---	---	---	---	capture		Missense_Mutation	DNP	139790639	139790640	3819	8	CC	GA	GA	30	30	COL22A1	GA	3	3
FRY	10129	broad.mit.edu	37	13	32868646	32868646	+	Frame_Shift_Del	DEL	A	-	-			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32868646delA	uc001utx.2	+	60	9218	c.8722delA	c.(8722-8724)ATGfs	p.M2908fs	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Frame_Shift_Del_p.M439fs|FRY_uc010tdx.1_Frame_Shift_Del_p.M278fs	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2908					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	32868646	32868646	6313	13	A	-	-	8	8	FRY	-	5	5
C14orf105	55195	broad.mit.edu	37	14	57949802	57949803	+	Frame_Shift_Ins	INS	-	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57949802_57949803insT	uc001xcy.2	-	3	516_517	c.373_374insA	c.(373-375)AGGfs	p.R125fs	C14orf105_uc010trl.1_Frame_Shift_Ins_p.R125fs|C14orf105_uc010trm.1_Frame_Shift_Ins_p.R37fs|C14orf105_uc010trn.1_Frame_Shift_Ins_p.R37fs|C14orf105_uc001xcz.2_Frame_Shift_Ins_p.R125fs|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Frame_Shift_Ins_p.R47fs	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	125											0																		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	57949802	57949803	1785	14	-	T	T	24	24	C14orf105	T	5	5
WDR1	9948	broad.mit.edu	37	4	10089385	10089385	+	Frame_Shift_Del	DEL	C	-	-			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:10089385delC	uc003gmf.2	-	8	1180	c.897delG	c.(895-897)GGGfs	p.G299fs	WDR1_uc003gmg.2_Frame_Shift_Del_p.G159fs|WDR1_uc003gmh.1_RNA|WDR1_uc011bwu.1_Frame_Shift_Del_p.G134fs	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	299					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	10089385	10089385	17845	4	C	-	-	18	18	WDR1	-	5	5
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	-	-	rs3055861		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41166638_41166640delGCT	uc003xnt.2	-	1	341_343	c.39_41delAGC	c.(37-42)GCAGCC>GCC	p.13_14AA>A		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	13_14				Missing (in Ref. 1 and 3).	brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)															---	---	---	---	capture_indel		In_Frame_Del	DEL	41166638	41166640	14650	8	GCT	-	-	42	42	SFRP1	-	5	5
STARD8	9754	broad.mit.edu	37	X	67937289	67937289	+	Frame_Shift_Del	DEL	C	-	-			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67937289delC	uc004dxa.2	+	5	665	c.293delC	c.(292-294)GCCfs	p.A98fs	STARD8_uc004dxb.2_Frame_Shift_Del_p.A178fs|STARD8_uc004dxc.3_Frame_Shift_Del_p.A98fs	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	98					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	67937289	67937289	15782	23	C	-	-	26	26	STARD8	-	5	5
GPR101	83550	broad.mit.edu	37	X	136113576	136113576	+	Frame_Shift_Del	DEL	G	-	-			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:136113576delG	uc011mwh.1	-	1	258	c.258delC	c.(256-258)CCCfs	p.P86fs		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	86	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	136113576	136113576	6896	23	G	-	-	35	35	GPR101	-	5	5
PRDM16	63976	broad.mit.edu	37	1	3334561	3334561	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3334561G>A	uc001akf.2	+	11	2941	c.2861G>A	c.(2860-2862)AGG>AAG	p.R954K	PRDM16_uc001akc.2_Missense_Mutation_p.R953K|PRDM16_uc001akd.2_Missense_Mutation_p.R953K|PRDM16_uc001ake.2_Missense_Mutation_p.R954K|PRDM16_uc009vlh.2_Missense_Mutation_p.R654K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	954	Mediates interaction with SKI and regulation of TGF-beta signaling.|C2H2-type 8.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)				T	EVI1	MDS|AML								---	---	---	---	capture		Missense_Mutation	SNP	3334561	3334561	12899	1	G	A	A	35	35	PRDM16	A	2	2
SLC25A33	84275	broad.mit.edu	37	1	9613784	9613784	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9613784C>G	uc001apw.2	+	2	380	c.157C>G	c.(157-159)CAG>GAG	p.Q53E	SLC25A33_uc001apx.2_5'UTR	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN	mitochondrial carrier protein MGC4399	53	Helical; Name=2; (Potential).|Solcar 1.				transport	integral to membrane|mitochondrial inner membrane					0	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---	capture		Missense_Mutation	SNP	9613784	9613784	14994	1	C	G	G	29	29	SLC25A33	G	3	3
VPS13D	55187	broad.mit.edu	37	1	12409360	12409360	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12409360G>A	uc001atv.2	+	46	9501	c.9360G>A	c.(9358-9360)GTG>GTA	p.V3120V	VPS13D_uc001atw.2_Silent_p.V3095V|VPS13D_uc001atx.2_Silent_p.V2307V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3119					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)														---	---	---	---	capture		Silent	SNP	12409360	12409360	17759	1	G	A	A	45	45	VPS13D	A	2	2
PQLC2	54896	broad.mit.edu	37	1	19652073	19652073	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19652073C>A	uc001bby.2	+	5	731	c.379C>A	c.(379-381)CTG>ATG	p.L127M	PQLC2_uc001bbz.2_Missense_Mutation_p.L62M|PQLC2_uc001bca.2_Missense_Mutation_p.L127M|PQLC2_uc001bcb.2_Missense_Mutation_p.L16M|PQLC2_uc001bcc.2_Missense_Mutation_p.L16M	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	127	Cytoplasmic (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	19652073	19652073	12855	1	C	A	A	32	32	PQLC2	A	2	2
UBXN10	127733	broad.mit.edu	37	1	20517269	20517269	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20517269A>G	uc001bdb.2	+	2	299	c.215A>G	c.(214-216)TAT>TGT	p.Y72C		NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	72										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	20517269	20517269	17470	1	A	G	G	16	16	UBXN10	G	4	4
SEPN1	57190	broad.mit.edu	37	1	26136243	26136243	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26136243C>A	uc010oer.1	+	9	997	c.942C>A	c.(940-942)ACC>ACA	p.T314T	SEPN1_uc010oes.1_Silent_p.T280T	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	314						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Silent	SNP	26136243	26136243	14542	1	C	A	A	23	23	SEPN1	A	1	1
CCDC21	64793	broad.mit.edu	37	1	26570661	26570661	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26570661C>A	uc001bls.1	+	3	191	c.60C>A	c.(58-60)TCC>TCA	p.S20S	CCDC21_uc001blr.2_Silent_p.S20S|CCDC21_uc010ofa.1_Intron	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	coiled-coil domain containing 21	20						centrosome|nucleolus|spindle pole					0		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Silent	SNP	26570661	26570661	2918	1	C	A	A	23	23	CCDC21	A	1	1
RPS8	6202	broad.mit.edu	37	1	45242381	45242381	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45242381G>T	uc001cmi.2	+	3	169	c.146G>T	c.(145-147)CGG>CTG	p.R49L	SNORD38A_uc009vxi.2_5'Flank|SNORD38B_uc001cml.2_5'Flank	NM_001012	NP_001003	P62241	RS8_HUMAN	ribosomal protein S8	49					endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	45242381	45242381	14141	1	G	T	T	39	39	RPS8	T	1	1
POMGNT1	55624	broad.mit.edu	37	1	46660018	46660018	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46660018G>T	uc001cpe.2	-	9	971	c.807C>A	c.(805-807)TGC>TGA	p.C269*	POMGNT1_uc010olx.1_Nonsense_Mutation_p.C247*|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Nonsense_Mutation_p.C126*|POMGNT1_uc001cpg.2_Nonsense_Mutation_p.C269*|POMGNT1_uc001cpf.2_5'UTR|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	269	Lumenal (Potential).		C -> Y (in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form).		protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Nonsense_Mutation	SNP	46660018	46660018	12672	1	G	T	T	46	46	POMGNT1	T	5	2
BSND	7809	broad.mit.edu	37	1	55474046	55474046	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55474046C>G	uc001cye.2	+	4	951	c.708C>G	c.(706-708)GAC>GAG	p.D236E		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	236	Cytoplasmic (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	55474046	55474046	1562	1	C	G	G	18	18	BSND	G	3	3
C1orf173	127254	broad.mit.edu	37	1	75037757	75037757	+	Nonsense_Mutation	SNP	C	A	A	rs143506603		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75037757C>A	uc001dgg.2	-	14	3856	c.3637G>T	c.(3637-3639)GAG>TAG	p.E1213*		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1213	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	75037757	75037757	2081	1	C	A	A	32	32	C1orf173	A	5	2
C1orf173	127254	broad.mit.edu	37	1	75038942	75038942	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75038942G>T	uc001dgg.2	-	14	2671	c.2452C>A	c.(2452-2454)CAG>AAG	p.Q818K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	818	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	75038942	75038942	2081	1	G	T	T	46	46	C1orf173	T	2	2
PIGK	10026	broad.mit.edu	37	1	77620189	77620189	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:77620189C>G	uc001dhk.2	-	9	976	c.931G>C	c.(931-933)GAA>CAA	p.E311Q	PIGK_uc010orj.1_Missense_Mutation_p.E235Q|PIGK_uc009wbx.2_Missense_Mutation_p.E217Q|PIGK_uc001dhl.1_Missense_Mutation_p.E311Q	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	311	Lumenal (Potential).|Essential for GPI attachment.			Missing: Loss of activity.	attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	77620189	77620189	12314	1	C	G	G	30	30	PIGK	G	3	3
MCOLN3	55283	broad.mit.edu	37	1	85488037	85488037	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85488037G>T	uc001dkp.2	-	10	1235	c.1142C>A	c.(1141-1143)ACC>AAC	p.T381N	MCOLN3_uc001dko.2_5'UTR|MCOLN3_uc001dkq.2_Missense_Mutation_p.T325N	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	mucolipin 3	381	Helical; (Potential).					integral to membrane	ion channel activity			skin(1)	1				all cancers(265;0.00957)|Epithelial(280;0.0254)														---	---	---	---	capture		Missense_Mutation	SNP	85488037	85488037	9786	1	G	T	T	44	44	MCOLN3	T	2	2
CLCA1	1179	broad.mit.edu	37	1	86959196	86959196	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86959196T>G	uc001dlt.2	+	10	1723	c.1594T>G	c.(1594-1596)TGG>GGG	p.W532G	CLCA1_uc001dls.1_Missense_Mutation_p.W471G	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	532					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)														---	---	---	---	capture		Missense_Mutation	SNP	86959196	86959196	3593	1	T	G	G	55	55	CLCA1	G	4	4
PKN2	5586	broad.mit.edu	37	1	89273266	89273266	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89273266G>T	uc001dmn.2	+	14	2331	c.1989G>T	c.(1987-1989)TTG>TTT	p.L663F	PKN2_uc010osp.1_Missense_Mutation_p.L647F|PKN2_uc010osq.1_Missense_Mutation_p.L506F|PKN2_uc009wcv.2_Missense_Mutation_p.L615F|PKN2_uc010osr.1_Missense_Mutation_p.L328F	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	663	Protein kinase.|ATP (By similarity).				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)														---	---	---	---	capture		Missense_Mutation	SNP	89273266	89273266	12405	1	G	T	T	47	47	PKN2	T	2	2
BARHL2	343472	broad.mit.edu	37	1	91180241	91180241	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91180241C>A	uc001dns.2	-	2	740	c.698G>T	c.(697-699)CGA>CTA	p.R233L		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	233	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)														---	---	---	---	capture		Missense_Mutation	SNP	91180241	91180241	1335	1	C	A	A	31	31	BARHL2	A	1	1
CCDC76	54482	broad.mit.edu	37	1	100598729	100598729	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100598729C>A	uc001dsv.2	+	1	24	c.5C>A	c.(4-6)GCG>GAG	p.A2E	SASS6_uc001dsu.2_5'Flank|SASS6_uc009wdz.2_5'Flank|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.A2E	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	2					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)														---	---	---	---	capture		Missense_Mutation	SNP	100598729	100598729	2973	1	C	A	A	27	27	CCDC76	A	1	1
SORT1	6272	broad.mit.edu	37	1	109910038	109910038	+	Silent	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109910038T>A	uc001dxm.1	-	3	481	c.432A>T	c.(430-432)CTA>CTT	p.L144L	SORT1_uc010ovi.1_Silent_p.L8L|SORT1_uc009wfb.2_Silent_p.L8L	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	144	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)														---	---	---	---	capture		Silent	SNP	109910038	109910038	15435	1	T	A	A	49	49	SORT1	A	4	4
ATXN7L2	127002	broad.mit.edu	37	1	110028702	110028702	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110028702A>T	uc001dxr.2	+	2	166	c.151A>T	c.(151-153)AAA>TAA	p.K51*	ATXN7L2_uc001dxs.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	51										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)														---	---	---	---	capture		Nonsense_Mutation	SNP	110028702	110028702	1237	1	A	T	T	5	5	ATXN7L2	T	5	4
ADAM30	11085	broad.mit.edu	37	1	120437651	120437651	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120437651C>G	uc001eij.2	-	1	1463	c.1309G>C	c.(1309-1311)GCC>CCC	p.A437P		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	437	Disintegrin.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.A437G(1)		ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)														---	---	---	---	capture		Missense_Mutation	SNP	120437651	120437651	249	1	C	G	G	25	25	ADAM30	G	3	3
PDE4DIP	9659	broad.mit.edu	37	1	144874717	144874717	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144874717G>C	uc001elw.3	-	30	5182	c.4891C>G	c.(4891-4893)CAC>GAC	p.H1631D	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.H1587D|PDE4DIP_uc001elv.3_Missense_Mutation_p.H638D	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1631	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---	capture		Missense_Mutation	SNP	144874717	144874717	12064	1	G	C	C	48	48	PDE4DIP	C	3	3
CGN	57530	broad.mit.edu	37	1	151501956	151501956	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151501956G>T	uc009wmw.2	+	11	2171	c.2027G>T	c.(2026-2028)GGT>GTT	p.G676V		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	670	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	151501956	151501956	3436	1	G	T	T	44	44	CGN	T	2	2
EFNA1	1942	broad.mit.edu	37	1	155106463	155106463	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155106463G>T	uc001fhh.2	+	5	643	c.538G>T	c.(538-540)GGT>TGT	p.G180C	RAG1AP1_uc010pey.1_5'Flank|EFNA1_uc001fhi.2_Missense_Mutation_p.G158C|RAG1AP1_uc001fhj.3_5'Flank|RAG1AP1_uc001fhk.3_5'Flank|RAG1AP1_uc001fhl.3_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	ephrin A1 isoform a precursor	180				G -> A (in Ref. 5; AAH32698).	angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---	capture		Missense_Mutation	SNP	155106463	155106463	5138	1	G	T	T	39	39	EFNA1	T	1	1
MEF2D	4209	broad.mit.edu	37	1	156450738	156450738	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156450738C>A	uc001fpc.2	-	4	674	c.284G>T	c.(283-285)GGC>GTC	p.G95V	MEF2D_uc001fpb.2_Missense_Mutation_p.G95V|MEF2D_uc001fpd.2_Missense_Mutation_p.G95V|MEF2D_uc001fpe.1_Missense_Mutation_p.G95V|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	95					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)															OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	156450738	156450738	9847	1	C	A	A	26	26	MEF2D	A	2	2
APOA1BP	128240	broad.mit.edu	37	1	156563309	156563309	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156563309G>C	uc001fph.2	+	5	665	c.626G>C	c.(625-627)GGA>GCA	p.G209A	APOA1BP_uc001fpg.2_Missense_Mutation_p.G209A|APOA1BP_uc001fpi.2_Silent_p.G190G|APOA1BP_uc001fpj.2_Missense_Mutation_p.G126A|APOA1BP_uc001fpk.2_Missense_Mutation_p.G106A|APOA1BP_uc010php.1_Missense_Mutation_p.G106A	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	209	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156563309	156563309	792	1	G	C	C	41	41	APOA1BP	C	3	3
FCRL3	115352	broad.mit.edu	37	1	157667113	157667113	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157667113C>G	uc001frb.2	-	6	953	c.661G>C	c.(661-663)GAT>CAT	p.D221H	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.D221H|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.D221H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	221	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	157667113	157667113	6033	1	C	G	G	32	32	FCRL3	G	3	3
VANGL2	57216	broad.mit.edu	37	1	160395042	160395042	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160395042A>C	uc001fwb.1	+	9	1739	c.1440A>C	c.(1438-1440)TTA>TTC	p.L480F	VANGL2_uc001fwc.1_Missense_Mutation_p.L480F	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	480	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---	capture		Missense_Mutation	SNP	160395042	160395042	17685	1	A	C	C	13	13	VANGL2	C	4	4
FCGR2B	2213	broad.mit.edu	37	1	161641367	161641367	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161641367G>T	uc001gaz.1	+	3	411	c.319G>T	c.(319-321)GAC>TAC	p.D107Y	FCGR2B_uc009wum.1_Missense_Mutation_p.D107Y|FCGR2B_uc001gay.1_Missense_Mutation_p.D106Y|FCGR2B_uc001gba.1_Missense_Mutation_p.D106Y|FCGR2B_uc001gbb.1_Missense_Mutation_p.D107Y|FCGR2B_uc009wun.1_Missense_Mutation_p.D100Y	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor	107	Ig-like C2-type 1.|Extracellular (Potential).				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)			T	?	ALL								---	---	---	---	capture		Missense_Mutation	SNP	161641367	161641367	6019	1	G	T	T	45	45	FCGR2B	T	2	2
ADCY10	55811	broad.mit.edu	37	1	167852846	167852846	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167852846C>G	uc001ger.2	-	9	1147	c.849G>C	c.(847-849)CAG>CAC	p.Q283H	ADCY10_uc009wvk.2_Missense_Mutation_p.Q191H|ADCY10_uc010plj.1_Missense_Mutation_p.Q130H|ADCY10_uc009wvl.2_Missense_Mutation_p.Q282H|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	283					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	167852846	167852846	294	1	C	G	G	24	24	ADCY10	G	3	3
PAPPA2	60676	broad.mit.edu	37	1	176661376	176661376	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176661376C>T	uc001gkz.2	+	6	3710	c.2546C>T	c.(2545-2547)CCA>CTA	p.P849L	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	849					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	176661376	176661376	11850	1	C	T	T	21	21	PAPPA2	T	2	2
ASPM	259266	broad.mit.edu	37	1	197071710	197071710	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197071710C>G	uc001gtu.2	-	18	6928	c.6671G>C	c.(6670-6672)TGG>TCG	p.W2224S	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.W72S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2224					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	197071710	197071710	1075	1	C	G	G	21	21	ASPM	G	3	3
CD55	1604	broad.mit.edu	37	1	207510715	207510715	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207510715C>A	uc001hfq.3	+	8	1315	c.1021C>A	c.(1021-1023)CAT>AAT	p.H341N	CD55_uc001hfp.3_Missense_Mutation_p.H341N|CD55_uc001hfr.3_Missense_Mutation_p.H341N|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.H277N|CD55_uc009xce.2_Missense_Mutation_p.H341N|CD55_uc009xcg.2_Missense_Mutation_p.H83N	NM_000574	NP_000565	P08174	DAF_HUMAN	decay accelerating factor for complement isoform	341	Ser/Thr-rich.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			ovary(1)	1					Chloramphenicol(DB00446)													---	---	---	---	capture		Missense_Mutation	SNP	207510715	207510715	3152	1	C	A	A	29	29	CD55	A	2	2
CR2	1380	broad.mit.edu	37	1	207644261	207644261	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207644261G>T	uc001hfw.2	+	7	1496	c.1402G>T	c.(1402-1404)GTG>TTG	p.V468L	CR2_uc001hfv.2_Missense_Mutation_p.V468L|CR2_uc009xch.2_Missense_Mutation_p.V468L|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	468	Sushi 7.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	207644261	207644261	3981	1	G	T	T	35	35	CR2	T	2	2
PTPN14	5784	broad.mit.edu	37	1	214571303	214571303	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214571303C>G	uc001hkk.1	-	8	982	c.711G>C	c.(709-711)ATG>ATC	p.M237I	PTPN14_uc010pty.1_Missense_Mutation_p.M138I	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	237	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)														---	---	---	---	capture		Missense_Mutation	SNP	214571303	214571303	13238	1	C	G	G	21	21	PTPN14	G	3	3
BPNT1	10380	broad.mit.edu	37	1	220232316	220232316	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220232316T>C	uc001hma.2	-	9	969	c.797A>G	c.(796-798)CAT>CGT	p.H266R	BPNT1_uc010pug.1_Missense_Mutation_p.H211R|BPNT1_uc010puh.1_Missense_Mutation_p.H230R|BPNT1_uc001hmb.3_Missense_Mutation_p.H281R	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	266					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)														---	---	---	---	capture		Missense_Mutation	SNP	220232316	220232316	1522	1	T	C	C	51	51	BPNT1	C	4	4
SLC35F3	148641	broad.mit.edu	37	1	234041399	234041399	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234041399G>C	uc001hvy.1	+	2	323	c.178G>C	c.(178-180)GTG>CTG	p.V60L		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	Error:Variant_position_missing_in_Q8IY50_after_alignment					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)															---	---	---	---	capture		Missense_Mutation	SNP	234041399	234041399	15087	1	G	C	C	40	40	SLC35F3	C	3	3
OR6F1	343169	broad.mit.edu	37	1	247875985	247875985	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875985G>T	uc001idj.1	-	1	73	c.73C>A	c.(73-75)CTC>ATC	p.L25I		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	25	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)															---	---	---	---	capture		Missense_Mutation	SNP	247875985	247875985	11611	1	G	T	T	34	34	OR6F1	T	2	2
OR14A16	284532	broad.mit.edu	37	1	247978670	247978670	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247978670T>C	uc001idm.1	-	1	362	c.362A>G	c.(361-363)TAT>TGT	p.Y121C		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	247978670	247978670	11351	1	T	C	C	49	49	OR14A16	C	4	4
OR2AK2	391191	broad.mit.edu	37	1	248128902	248128902	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248128902C>A	uc010pzd.1	+	1	269	c.269C>A	c.(268-270)TCC>TAC	p.S90Y	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	90	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)															---	---	---	---	capture		Missense_Mutation	SNP	248128902	248128902	11392	1	C	A	A	30	30	OR2AK2	A	2	2
OR14C36	127066	broad.mit.edu	37	1	248512845	248512845	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248512845T>C	uc010pzl.1	+	1	769	c.769T>C	c.(769-771)TAC>CAC	p.Y257H		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	257	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	248512845	248512845	11352	1	T	C	C	57	57	OR14C36	C	4	4
OR14C36	127066	broad.mit.edu	37	1	248512948	248512948	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248512948G>A	uc010pzl.1	+	1	872	c.872G>A	c.(871-873)AGA>AAA	p.R291K		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	291	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	248512948	248512948	11352	1	G	A	A	33	33	OR14C36	A	2	2
OR2T27	403239	broad.mit.edu	37	1	248813460	248813460	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248813460G>A	uc010pzo.1	-	1	726	c.726C>T	c.(724-726)TCC>TCT	p.S242S		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	242	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture		Silent	SNP	248813460	248813460	11427	1	G	A	A	35	35	OR2T27	A	2	2
OR14I1	401994	broad.mit.edu	37	1	248845065	248845065	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248845065G>A	uc001ieu.1	-	1	541	c.541C>T	c.(541-543)CAT>TAT	p.H181Y		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	248845065	248845065	11353	1	G	A	A	45	45	OR14I1	A	2	2
LARP4B	23185	broad.mit.edu	37	10	863800	863800	+	Silent	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:863800T>C	uc001ifs.1	-	14	1601	c.1560A>G	c.(1558-1560)CCA>CCG	p.P520P		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	520							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	863800	863800	8954	10	T	C	C	63	63	LARP4B	C	4	4
TAF3	83860	broad.mit.edu	37	10	8051097	8051097	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8051097G>A	uc010qbd.1	+	5	2372	c.2372G>A	c.(2371-2373)AGG>AAG	p.R791K		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	791	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	8051097	8051097	16046	10	G	A	A	35	35	TAF3	A	2	2
MCM10	55388	broad.mit.edu	37	10	13214719	13214719	+	Silent	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13214719A>G	uc001ima.2	+	5	650	c.549A>G	c.(547-549)CTA>CTG	p.L183L	MCM10_uc001imb.2_Silent_p.L182L|MCM10_uc001imc.2_Silent_p.L182L	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	183					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	13214719	13214719	9774	10	A	G	G	14	14	MCM10	G	4	4
CACNB2	783	broad.mit.edu	37	10	18803238	18803238	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18803238C>A	uc001ipr.2	+	7	804	c.744C>A	c.(742-744)CCC>CCA	p.P248P	CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Intron|CACNB2_uc001ipt.2_Intron|CACNB2_uc010qcl.1_Intron|CACNB2_uc001ipu.2_Silent_p.P220P|CACNB2_uc001ipv.2_Intron|CACNB2_uc009xka.1_Intron|CACNB2_uc001ipw.2_Intron|CACNB2_uc001ipx.2_Silent_p.P193P|CACNB2_uc009xkb.1_Intron|CACNB2_uc010qcm.1_Silent_p.P194P|CACNB2_uc001ipz.2_Intron|CACNB2_uc001ipy.2_Silent_p.P194P|CACNB2_uc010qcn.1_Intron|CACNB2_uc010qco.1_Intron|CACNB2_uc001iqa.2_Silent_p.P200P|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	248					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---	capture		Silent	SNP	18803238	18803238	2669	10	C	A	A	21	21	CACNB2	A	2	2
NEBL	10529	broad.mit.edu	37	10	21250653	21250653	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21250653G>C	uc001iqk.2	-	4	659	c.305C>G	c.(304-306)ACG>AGG	p.T102R		NM_213569	NP_998734	O76041	NEBL_HUMAN	nebulette non-muscle isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	21250653	21250653	10702	10	G	C	C	40	40	NEBL	C	3	3
NRP1	8829	broad.mit.edu	37	10	33543123	33543123	+	Splice_Site	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:33543123C>A	uc001iwx.3	-	6	1338	c.815_splice	c.e6-1	p.D272_splice	NRP1_uc001iwv.3_Splice_Site_p.D272_splice|NRP1_uc009xlz.2_Splice_Site_p.D272_splice|NRP1_uc001iww.3_Splice_Site_p.D91_splice|NRP1_uc001iwy.3_Splice_Site_p.D272_splice|NRP1_uc001iwz.2_Splice_Site_p.D272_splice|NRP1_uc001ixa.2_Splice_Site_p.D272_splice|NRP1_uc001ixb.1_Splice_Site_p.D272_splice|NRP1_uc001ixc.1_Splice_Site_p.D272_splice	NM_003873	NP_003864			neuropilin 1 isoform a						axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)													---	---	---	---	capture		Splice_Site	SNP	33543123	33543123	11065	10	C	A	A	32	32	NRP1	A	5	2
ANKRD30A	91074	broad.mit.edu	37	10	37505199	37505199	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37505199G>C	uc001iza.1	+	32	2891	c.2792G>C	c.(2791-2793)GGA>GCA	p.G931A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	987						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	37505199	37505199	663	10	G	C	C	41	41	ANKRD30A	C	3	3
ALOX5	240	broad.mit.edu	37	10	45878095	45878095	+	Silent	SNP	C	A	A	rs140946470		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45878095C>A	uc001jce.2	+	2	414	c.315C>A	c.(313-315)ACC>ACA	p.T105T	ALOX5_uc009xmt.2_Silent_p.T105T|ALOX5_uc010qfg.1_Silent_p.T105T	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	105	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)													---	---	---	---	capture		Silent	SNP	45878095	45878095	543	10	C	A	A	23	23	ALOX5	A	1	1
LRRC18	474354	broad.mit.edu	37	10	50121473	50121473	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50121473G>C	uc001jhd.2	-	1	808	c.728C>G	c.(727-729)CCC>CGC	p.P243R	WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.P243R	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	243						cytoplasm				ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	50121473	50121473	9348	10	G	C	C	43	43	LRRC18	C	3	3
SLC18A3	6572	broad.mit.edu	37	10	50820151	50820151	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50820151G>C	uc001jhw.2	+	1	1805	c.1365G>C	c.(1363-1365)ATG>ATC	p.M455I	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	455	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	50820151	50820151	14923	10	G	C	C	47	47	SLC18A3	C	3	3
A1CF	29974	broad.mit.edu	37	10	52573785	52573785	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52573785C>A	uc001jjj.2	-	10	1367	c.1179G>T	c.(1177-1179)GTG>GTT	p.V393V	A1CF_uc010qhn.1_Silent_p.V393V|A1CF_uc001jji.2_Silent_p.V385V|A1CF_uc001jjh.2_Silent_p.V393V|A1CF_uc010qho.1_Silent_p.V401V|A1CF_uc009xov.2_Silent_p.V385V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	393	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	52573785	52573785	2	10	C	A	A	29	29	A1CF	A	2	2
CTNNA3	29119	broad.mit.edu	37	10	67680202	67680202	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:67680202C>A	uc009xpn.1	-	18	2697	c.2574G>T	c.(2572-2574)TTG>TTT	p.L858F	CTNNA3_uc001jmw.2_Missense_Mutation_p.L858F	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	858					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	67680202	67680202	4173	10	C	A	A	29	29	CTNNA3	A	2	2
TTC18	118491	broad.mit.edu	37	10	75034347	75034347	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75034347G>T	uc009xrc.2	-	24	3010	c.2889C>A	c.(2887-2889)CCC>CCA	p.P963P	TTC18_uc001jty.2_Silent_p.P963P|TTC18_uc001jtv.3_Silent_p.P67P|TTC18_uc001jtw.3_Silent_p.P67P|TTC18_uc001jtx.2_Silent_p.P344P	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	963	TPR 5.						binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)																	---	---	---	---	capture		Silent	SNP	75034347	75034347	17239	10	G	T	T	47	47	TTC18	T	2	2
RGR	5995	broad.mit.edu	37	10	86007505	86007505	+	Splice_Site	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:86007505T>C	uc001kdc.1	+	2	274	c.236_splice	c.e2+2	p.R79_splice	RGR_uc001kdb.1_Splice_Site_p.P62_splice|RGR_uc001kdd.1_Splice_Site_p.R79_splice|RGR_uc001kde.1_Splice_Site_p.R79_splice	NM_001012720	NP_001012738			retinal G-protein coupled receptor isoform 2						phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1																		---	---	---	---	capture		Splice_Site	SNP	86007505	86007505	13765	10	T	C	C	57	57	RGR	C	5	4
AGAP11	119385	broad.mit.edu	37	10	88769379	88769379	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88769379G>T	uc001kee.2	+	12	2574	c.1370G>T	c.(1369-1371)CGG>CTG	p.R457L	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	457					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	88769379	88769379	369	10	G	T	T	39	39	AGAP11	T	1	1
ZNF518A	9849	broad.mit.edu	37	10	97918053	97918053	+	Silent	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97918053A>G	uc001klp.2	+	6	2831	c.1974A>G	c.(1972-1974)GCA>GCG	p.A658A	ZNF518A_uc001klo.1_Silent_p.A128A|ZNF518A_uc001klq.2_Silent_p.A658A|ZNF518A_uc001klr.2_Silent_p.A658A	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)														---	---	---	---	capture		Silent	SNP	97918053	97918053	18556	10	A	G	G	7	7	ZNF518A	G	4	4
LOXL4	84171	broad.mit.edu	37	10	100010855	100010855	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:100010855C>T	uc001kpa.1	-	14	2318	c.2167G>A	c.(2167-2169)GGG>AGG	p.G723R		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	723	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)														---	---	---	---	capture		Missense_Mutation	SNP	100010855	100010855	9275	10	C	T	T	21	21	LOXL4	T	2	2
HPS1	3257	broad.mit.edu	37	10	100195489	100195489	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:100195489G>T	uc010qpf.1	-	4	404	c.158C>A	c.(157-159)CCG>CAG	p.P53Q	HPS1_uc001kpi.1_Missense_Mutation_p.P53Q|HPS1_uc001kpj.1_5'UTR|HPS1_uc001kpk.1_Missense_Mutation_p.P53Q|HPS1_uc009xwb.2_RNA|HPS1_uc010qph.1_Missense_Mutation_p.P53Q|HPS1_uc001kpl.2_Missense_Mutation_p.P53Q	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	53					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)										Hermansky-Pudlak_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	100195489	100195489	7631	10	G	T	T	39	39	HPS1	T	1	1
PDZD7	79955	broad.mit.edu	37	10	102783315	102783315	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102783315G>T	uc001kso.1	-	4	635	c.420C>A	c.(418-420)AGC>AGA	p.S140R	PDZD7_uc001ksn.2_Missense_Mutation_p.S140R	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	140	PDZ 1.					cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)														---	---	---	---	capture		Missense_Mutation	SNP	102783315	102783315	12125	10	G	T	T	42	42	PDZD7	T	2	2
SORCS1	114815	broad.mit.edu	37	10	108337279	108337279	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108337279T>C	uc001kym.2	-	26	3414	c.3406A>G	c.(3406-3408)ACT>GCT	p.T1136A	SORCS1_uc001kyl.2_Intron|SORCS1_uc009xxs.2_Intron|SORCS1_uc001kyn.1_3'UTR	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	1136	Cytoplasmic (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)														---	---	---	---	capture		Missense_Mutation	SNP	108337279	108337279	15430	10	T	C	C	57	57	SORCS1	C	4	4
PNLIPRP1	5407	broad.mit.edu	37	10	118354329	118354329	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118354329G>A	uc001lco.1	+	5	436	c.418G>A	c.(418-420)GTG>ATG	p.V140M	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.V140M|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	140					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)														---	---	---	---	capture		Missense_Mutation	SNP	118354329	118354329	12576	10	G	A	A	40	40	PNLIPRP1	A	1	1
RAB11FIP2	22841	broad.mit.edu	37	10	119805520	119805520	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:119805520G>C	uc001ldj.1	-	1	595	c.155C>G	c.(154-156)GCT>GGT	p.A52G	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.A52G|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	52	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)														---	---	---	---	capture		Missense_Mutation	SNP	119805520	119805520	13353	10	G	C	C	34	34	RAB11FIP2	C	3	3
C10orf120	399814	broad.mit.edu	37	10	124457592	124457592	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124457592T>A	uc001lgn.2	-	3	697	c.665A>T	c.(664-666)GAT>GTT	p.D222V		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	222										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)																---	---	---	---	capture		Missense_Mutation	SNP	124457592	124457592	1625	10	T	A	A	50	50	C10orf120	A	4	4
DOCK1	1793	broad.mit.edu	37	10	129172398	129172398	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129172398A>T	uc001ljt.2	+	35	3596	c.3532A>T	c.(3532-3534)ATG>TTG	p.M1178L	DOCK1_uc010qun.1_Missense_Mutation_p.M1199L|DOCK1_uc009yaq.2_Missense_Mutation_p.M173L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1178	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)														---	---	---	---	capture		Missense_Mutation	SNP	129172398	129172398	4868	10	A	T	T	4	4	DOCK1	T	4	4
OR51A4	401666	broad.mit.edu	37	11	4967961	4967961	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4967961T>C	uc010qys.1	-	1	370	c.370A>G	c.(370-372)AGA>GGA	p.R124G		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	4967961	4967961	11497	11	T	C	C	53	53	OR51A4	C	4	4
TRIM22	10346	broad.mit.edu	37	11	5719761	5719761	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5719761G>C	uc001mbr.2	+	4	1013	c.736G>C	c.(736-738)GTA>CTA	p.V246L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Missense_Mutation_p.V214L|TRIM22_uc009yes.2_Missense_Mutation_p.V242L|TRIM22_uc010qzm.1_Missense_Mutation_p.V74L|TRIM22_uc009yeu.2_Missense_Mutation_p.V57L	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	246	Potential.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)														---	---	---	---	capture		Missense_Mutation	SNP	5719761	5719761	17040	11	G	C	C	36	36	TRIM22	C	3	3
OR52L1	338751	broad.mit.edu	37	11	6007601	6007601	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6007601C>A	uc001mcd.2	-	1	615	c.560G>T	c.(559-561)TGC>TTC	p.C187F		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6007601	6007601	11535	11	C	A	A	25	25	OR52L1	A	2	2
C11orf16	56673	broad.mit.edu	37	11	8947056	8947056	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8947056C>G	uc001mhb.3	-	5	1282	c.1158G>C	c.(1156-1158)TGG>TGC	p.W386C	C11orf16_uc001mhc.3_Missense_Mutation_p.W386C	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	386										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)														---	---	---	---	capture		Missense_Mutation	SNP	8947056	8947056	1668	11	C	G	G	30	30	C11orf16	G	3	3
ABCC8	6833	broad.mit.edu	37	11	17464298	17464298	+	Silent	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17464298G>C	uc001mnc.2	-	10	1725	c.1599C>G	c.(1597-1599)CTC>CTG	p.L533L	ABCC8_uc010rcy.1_Silent_p.L532L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	533	Cytoplasmic (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---	capture		Silent	SNP	17464298	17464298	59	11	G	C	C	45	45	ABCC8	C	3	3
ANO5	203859	broad.mit.edu	37	11	22249067	22249067	+	Silent	SNP	C	A	A	rs149040903		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22249067C>A	uc001mqi.2	+	7	900	c.583C>A	c.(583-585)CGG>AGG	p.R195R	ANO5_uc001mqj.2_Silent_p.R194R	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	195	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4																		---	---	---	---	capture		Silent	SNP	22249067	22249067	708	11	C	A	A	31	31	ANO5	A	1	1
BBOX1	8424	broad.mit.edu	37	11	27148880	27148880	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27148880C>T	uc001mre.1	+	9	1412	c.1044C>T	c.(1042-1044)GGC>GGT	p.G348G	BBOX1_uc009yih.1_Silent_p.G348G|BBOX1_uc001mrg.1_Silent_p.G348G	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	348					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---	capture		Silent	SNP	27148880	27148880	1355	11	C	T	T	26	26	BBOX1	T	2	2
OR5D18	219438	broad.mit.edu	37	11	55587801	55587801	+	Silent	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55587801C>G	uc010rin.1	+	1	696	c.696C>G	c.(694-696)GTC>GTG	p.V232V		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)																---	---	---	---	capture		Silent	SNP	55587801	55587801	11567	11	C	G	G	29	29	OR5D18	G	3	3
OR5J2	282775	broad.mit.edu	37	11	55944513	55944513	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55944513G>T	uc010rjb.1	+	1	420	c.420G>T	c.(418-420)AAG>AAT	p.K140N		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)																	---	---	---	---	capture		Missense_Mutation	SNP	55944513	55944513	11575	11	G	T	T	36	36	OR5J2	T	2	2
OR5T2	219464	broad.mit.edu	37	11	56000524	56000524	+	Silent	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56000524A>G	uc010rjc.1	-	1	138	c.138T>C	c.(136-138)ACT>ACC	p.T46T		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	46	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Silent	SNP	56000524	56000524	11592	11	A	G	G	7	7	OR5T2	G	4	4
OR5M9	390162	broad.mit.edu	37	11	56230145	56230145	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56230145C>A	uc010rjj.1	-	1	733	c.733G>T	c.(733-735)GCT>TCT	p.A245S		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Missense_Mutation	SNP	56230145	56230145	11587	11	C	A	A	26	26	OR5M9	A	2	2
OR9Q2	219957	broad.mit.edu	37	11	57958617	57958617	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57958617C>G	uc010rka.1	+	1	655	c.655C>G	c.(655-657)CTG>GTG	p.L219V		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	219	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)																---	---	---	---	capture		Missense_Mutation	SNP	57958617	57958617	11667	11	C	G	G	24	24	OR9Q2	G	3	3
OR5B21	219968	broad.mit.edu	37	11	58274962	58274962	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58274962A>T	uc010rki.1	-	1	617	c.617T>A	c.(616-618)TTC>TAC	p.F206Y		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---	capture		Missense_Mutation	SNP	58274962	58274962	11561	11	A	T	T	9	9	OR5B21	T	4	4
MPEG1	219972	broad.mit.edu	37	11	58979628	58979628	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58979628G>T	uc001nnu.3	-	1	867	c.711C>A	c.(709-711)ACC>ACA	p.T237T		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	237	MACPF.|Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)																---	---	---	---	capture		Silent	SNP	58979628	58979628	10115	11	G	T	T	39	39	MPEG1	T	1	1
DAGLA	747	broad.mit.edu	37	11	61490431	61490431	+	Silent	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61490431C>G	uc001nsa.2	+	4	519	c.408C>G	c.(406-408)CTC>CTG	p.L136L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	136	Extracellular (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)														---	---	---	---	capture		Silent	SNP	61490431	61490431	4393	11	C	G	G	31	31	DAGLA	G	3	3
FADS3	3995	broad.mit.edu	37	11	61645000	61645000	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61645000C>A	uc001nsm.2	-	7	1021	c.868G>T	c.(868-870)GTG>TTG	p.V290L	FADS3_uc001nsn.2_Missense_Mutation_p.V166L	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	290	Lumenal (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	61645000	61645000	5564	11	C	A	A	18	18	FADS3	A	2	2
PPP2R5B	5526	broad.mit.edu	37	11	64695280	64695280	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64695280G>A	uc001oby.2	+	4	988	c.403G>A	c.(403-405)GTG>ATG	p.V135M	PPP2R5B_uc001obz.2_Missense_Mutation_p.V135M	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	135					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	64695280	64695280	12829	11	G	A	A	36	36	PPP2R5B	A	2	2
C11orf2	738	broad.mit.edu	37	11	64878989	64878989	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64878989C>T	uc001ocr.1	+	10	2319	c.2279C>T	c.(2278-2280)GCT>GTT	p.A760V	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.A636V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	760					lipid transport|protein transport	Golgi apparatus|integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	64878989	64878989	1670	11	C	T	T	28	28	C11orf2	T	2	2
TMEM134	80194	broad.mit.edu	37	11	67234994	67234994	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67234994G>C	uc001olq.1	-	3	375	c.307C>G	c.(307-309)CGC>GGC	p.R103G	TMEM134_uc001olp.1_Missense_Mutation_p.R94G|TMEM134_uc001olr.1_Missense_Mutation_p.R103G|TMEM134_uc001ols.1_RNA|TMEM134_uc001olt.1_RNA|TMEM134_uc010rpt.1_Missense_Mutation_p.R94G|TMEM134_uc009yrx.2_Missense_Mutation_p.R103G|TMEM134_uc010rpu.1_Missense_Mutation_p.S97R|TMEM134_uc001olu.3_Missense_Mutation_p.S106R	NM_025124	NP_079400	Q9H6X4	TM134_HUMAN	transmembrane protein 134 isoform a	103	Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	67234994	67234994	16582	11	G	C	C	38	38	TMEM134	C	3	3
MRPL21	219927	broad.mit.edu	37	11	68671204	68671204	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68671204C>A	uc001ooi.2	-	1	100	c.75G>T	c.(73-75)TCG>TCT	p.S25S	IGHMBP2_uc001ooj.1_5'Flank|IGHMBP2_uc001ook.1_5'Flank|MRPL21_uc001ooh.2_5'UTR|MRPL21_uc010rqe.1_Silent_p.S25S	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21 isoform d	25					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)															---	---	---	---	capture		Silent	SNP	68671204	68671204	10180	11	C	A	A	23	23	MRPL21	A	1	1
C2CD3	26005	broad.mit.edu	37	11	73785376	73785376	+	Nonsense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73785376G>A	uc001ouu.2	-	24	5100	c.4873C>T	c.(4873-4875)CAG>TAG	p.Q1625*	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1625	C2 2.			Q -> R (in Ref. 1; BAC86334).		centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)																	---	---	---	---	capture		Nonsense_Mutation	SNP	73785376	73785376	2237	11	G	A	A	46	46	C2CD3	A	5	2
CCDC89	220388	broad.mit.edu	37	11	85397009	85397009	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85397009C>A	uc001pau.1	-	1	312	c.165G>T	c.(163-165)CTG>CTT	p.L55L		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	55	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)																---	---	---	---	capture		Silent	SNP	85397009	85397009	2991	11	C	A	A	17	17	CCDC89	A	2	2
HEPHL1	341208	broad.mit.edu	37	11	93826744	93826744	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93826744C>A	uc001pep.2	+	13	2529	c.2372C>A	c.(2371-2373)ACG>AAG	p.T791K	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	791	Plastocyanin-like 5.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Missense_Mutation	SNP	93826744	93826744	7338	11	C	A	A	19	19	HEPHL1	A	1	1
HEPHL1	341208	broad.mit.edu	37	11	93836182	93836182	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93836182T>A	uc001pep.2	+	15	2835	c.2678T>A	c.(2677-2679)GTG>GAG	p.V893E	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	893	Plastocyanin-like 5.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Missense_Mutation	SNP	93836182	93836182	7338	11	T	A	A	59	59	HEPHL1	A	4	4
CNTN5	53942	broad.mit.edu	37	11	99827644	99827644	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:99827644A>T	uc001pga.2	+	8	1119	c.780A>T	c.(778-780)CAA>CAT	p.Q260H	CNTN5_uc009ywv.1_Missense_Mutation_p.Q260H|CNTN5_uc001pfz.2_Missense_Mutation_p.Q260H|CNTN5_uc001pgb.2_Missense_Mutation_p.Q186H	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	260	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)														---	---	---	---	capture		Missense_Mutation	SNP	99827644	99827644	3782	11	A	T	T	1	1	CNTN5	T	4	4
ANGPTL5	253935	broad.mit.edu	37	11	101771162	101771162	+	Silent	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101771162T>C	uc001pgl.2	-	7	1256	c.660A>G	c.(658-660)CTA>CTG	p.L220L		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	220	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)														---	---	---	---	capture		Silent	SNP	101771162	101771162	620	11	T	C	C	53	53	ANGPTL5	C	4	4
CASP5	838	broad.mit.edu	37	11	104869747	104869747	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:104869747C>A	uc010rva.1	-	7	993	c.961G>T	c.(961-963)GGG>TGG	p.G321W	CASP5_uc010ruz.1_Missense_Mutation_p.G334W|CASP5_uc010rvb.1_Missense_Mutation_p.G263W|CASP5_uc010rvc.1_Missense_Mutation_p.G179W|CASP5_uc009yxh.2_Missense_Mutation_p.G103W|CASP5_uc010rvd.1_Missense_Mutation_p.G103W	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	321					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)														---	---	---	---	capture		Missense_Mutation	SNP	104869747	104869747	2793	11	C	A	A	21	21	CASP5	A	2	2
ZC3H12C	85463	broad.mit.edu	37	11	110034020	110034020	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:110034020C>A	uc009yxw.2	+	5	1222	c.1171C>A	c.(1171-1173)CTT>ATT	p.L391I	ZC3H12C_uc010rwc.1_Missense_Mutation_p.L392I|ZC3H12C_uc010rwd.1_Missense_Mutation_p.L392I|ZC3H12C_uc001pkr.3_Missense_Mutation_p.L360I	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	391							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)														---	---	---	---	capture		Missense_Mutation	SNP	110034020	110034020	18151	11	C	A	A	32	32	ZC3H12C	A	2	2
TMPRSS5	80975	broad.mit.edu	37	11	113570795	113570795	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113570795C>A	uc001poc.3	-	2	221	c.99G>T	c.(97-99)CAG>CAT	p.Q33H	TMPRSS5_uc009yys.2_5'UTR|TMPRSS5_uc009yyt.2_Intron|TMPRSS5_uc001pod.3_Intron|TMPRSS5_uc010rww.1_Missense_Mutation_p.Q23H|TMPRSS5_uc009yyu.2_Intron|TMPRSS5_uc010rwx.1_Intron	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	33	Cytoplasmic (Potential).				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)	1		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)														---	---	---	---	capture		Missense_Mutation	SNP	113570795	113570795	16791	11	C	A	A	28	28	TMPRSS5	A	2	2
CLDN25	644672	broad.mit.edu	37	11	113650742	113650742	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113650742G>C	uc009yyw.1	+	1	225	c.225G>C	c.(223-225)CAG>CAC	p.Q75H		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	75	Extracellular (Potential).					integral to membrane|tight junction	structural molecule activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	113650742	113650742	3622	11	G	C	C	35	35	CLDN25	C	3	3
APOA4	337	broad.mit.edu	37	11	116692455	116692455	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116692455C>T	uc001pps.1	-	3	423	c.319G>A	c.(319-321)GAG>AAG	p.E107K		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)														---	---	---	---	capture		Missense_Mutation	SNP	116692455	116692455	794	11	C	T	T	30	30	APOA4	T	2	2
DSCAML1	57453	broad.mit.edu	37	11	117308664	117308664	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117308664C>T	uc001prh.1	-	25	4561	c.4559G>A	c.(4558-4560)AGC>AAC	p.S1520N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1460	Fibronectin type-III 5.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---	capture		Missense_Mutation	SNP	117308664	117308664	4953	11	C	T	T	28	28	DSCAML1	T	2	2
OAF	220323	broad.mit.edu	37	11	120096401	120096401	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120096401G>T	uc001pxb.2	+	2	504	c.263G>T	c.(262-264)GGG>GTG	p.G88V		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	88											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)														---	---	---	---	capture		Missense_Mutation	SNP	120096401	120096401	11203	11	G	T	T	43	43	OAF	T	2	2
OR6X1	390260	broad.mit.edu	37	11	123624810	123624810	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123624810G>T	uc010rzy.1	-	1	417	c.417C>A	c.(415-417)TGC>TGA	p.C139*		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	139	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)														---	---	---	---	capture		Nonsense_Mutation	SNP	123624810	123624810	11623	11	G	T	T	42	42	OR6X1	T	5	2
SLC6A13	6540	broad.mit.edu	37	12	330173	330173	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:330173C>A	uc001qic.1	-	15	1803	c.1750G>T	c.(1750-1752)GCT>TCT	p.A584S	SLC6A13_uc009zdj.1_Missense_Mutation_p.A574S|SLC6A13_uc010sdl.1_Missense_Mutation_p.A492S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	584	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)															---	---	---	---	capture		Missense_Mutation	SNP	330173	330173	15173	12	C	A	A	26	26	SLC6A13	A	2	2
VWF	7450	broad.mit.edu	37	12	6061009	6061009	+	Splice_Site	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6061009C>A	uc001qnn.1	-	50	8405	c.8155_splice	c.e50+1	p.C2719_splice	VWF_uc010set.1_Intron	NM_000552	NP_000543			von Willebrand factor preproprotein						blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)													---	---	---	---	capture		Splice_Site	SNP	6061009	6061009	17818	12	C	A	A	17	17	VWF	A	5	2
USP5	8078	broad.mit.edu	37	12	6964980	6964980	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6964980C>T	uc001qri.3	+	3	358	c.299C>T	c.(298-300)GCT>GTT	p.A100V	USP5_uc001qrh.3_Missense_Mutation_p.A100V	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	100					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	6964980	6964980	17645	12	C	T	T	28	28	USP5	T	2	2
C1R	715	broad.mit.edu	37	12	7187955	7187955	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7187955G>A	uc010sfy.1	-	10	2058	c.1999C>T	c.(1999-2001)CGC>TGC	p.R667C		NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	667	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---	capture		Missense_Mutation	SNP	7187955	7187955	2039	12	G	A	A	37	37	C1R	A	1	1
CLEC4C	170482	broad.mit.edu	37	12	7882298	7882298	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7882298C>A	uc001qtg.1	-	6	710	c.536G>T	c.(535-537)CGT>CTT	p.R179L	CLEC4C_uc001qth.1_Missense_Mutation_p.R179L|CLEC4C_uc001qti.1_Missense_Mutation_p.R148L	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C isoform	179	Extracellular (Potential).|C-type lectin.				innate immune response	integral to membrane	sugar binding			ovary(2)|skin(1)	3				Kidney(36;0.0915)														---	---	---	---	capture		Missense_Mutation	SNP	7882298	7882298	3651	12	C	A	A	19	19	CLEC4C	A	1	1
LRP6	4040	broad.mit.edu	37	12	12356314	12356314	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12356314C>A	uc001rah.3	-	3	612	c.470G>T	c.(469-471)TGG>TTG	p.W157L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.W157L	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	157	Extracellular (Potential).|LDL-receptor class B 3.|Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)																---	---	---	---	capture		Missense_Mutation	SNP	12356314	12356314	9335	12	C	A	A	21	21	LRP6	A	2	2
GRIN2B	2904	broad.mit.edu	37	12	14019093	14019093	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14019093G>T	uc001rbt.2	-	2	229	c.50C>A	c.(49-51)GCC>GAC	p.A17D		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	17					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---	capture		Missense_Mutation	SNP	14019093	14019093	7059	12	G	T	T	42	42	GRIN2B	T	2	2
PLEKHA5	54477	broad.mit.edu	37	12	19473549	19473549	+	Silent	SNP	A	G	G	rs146976787		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19473549A>G	uc001reb.2	+	13	1985	c.1899A>G	c.(1897-1899)GTA>GTG	p.V633V	PLEKHA5_uc010sie.1_Silent_p.V736V|PLEKHA5_uc001rea.2_Silent_p.V691V|PLEKHA5_uc009zin.2_Silent_p.V391V|PLEKHA5_uc010sif.1_Silent_p.V564V|PLEKHA5_uc010sig.1_Silent_p.V552V|PLEKHA5_uc010sih.1_Silent_p.V525V|PLEKHA5_uc001rec.1_Silent_p.V379V|PLEKHA5_uc009zio.2_5'Flank	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	633							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)																	---	---	---	---	capture		Silent	SNP	19473549	19473549	12485	12	A	G	G	15	15	PLEKHA5	G	4	4
SLCO1C1	53919	broad.mit.edu	37	12	20858991	20858991	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20858991C>G	uc001rej.3	+	5	735	c.380C>G	c.(379-381)GCA>GGA	p.A127G	SLCO1C1_uc010sii.1_Missense_Mutation_p.A127G|SLCO1C1_uc010sij.1_Missense_Mutation_p.A127G|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.A127G|SLCO1C1_uc010sik.1_Missense_Mutation_p.A9G	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	127	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)																	---	---	---	---	capture		Missense_Mutation	SNP	20858991	20858991	15222	12	C	G	G	25	25	SLCO1C1	G	3	3
LDHB	3945	broad.mit.edu	37	12	21790085	21790085	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21790085T>C	uc001rfc.2	-	6	775	c.757A>G	c.(757-759)ATT>GTT	p.I253V	LDHB_uc001rfd.2_Missense_Mutation_p.I253V|LDHB_uc001rfe.2_Missense_Mutation_p.I253V	NM_002300	NP_002291	P07195	LDHB_HUMAN	L-lactate dehydrogenase B	253					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|ovary(1)	3					NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	21790085	21790085	9025	12	T	C	C	49	49	LDHB	C	4	4
ABCC9	10060	broad.mit.edu	37	12	21998678	21998678	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21998678G>T	uc001rfi.1	-	24	2975	c.2955C>A	c.(2953-2955)TAC>TAA	p.Y985*	ABCC9_uc001rfh.2_Nonsense_Mutation_p.Y985*|ABCC9_uc001rfj.1_Nonsense_Mutation_p.Y949*	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	985	Cytoplasmic (Potential).				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)													---	---	---	---	capture		Nonsense_Mutation	SNP	21998678	21998678	60	12	G	T	T	44	44	ABCC9	T	5	2
SLC38A1	81539	broad.mit.edu	37	12	46591839	46591839	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46591839C>T	uc001rpa.2	-	15	1385	c.1127G>A	c.(1126-1128)CGT>CAT	p.R376H	SLC38A1_uc001rpb.2_Missense_Mutation_p.R376H|SLC38A1_uc001rpc.2_Missense_Mutation_p.R376H|SLC38A1_uc001rpd.2_Missense_Mutation_p.R376H|SLC38A1_uc001rpe.2_Missense_Mutation_p.R376H|SLC38A1_uc009zkj.1_Missense_Mutation_p.R376H	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	376	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)															---	---	---	---	capture		Missense_Mutation	SNP	46591839	46591839	15098	12	C	T	T	19	19	SLC38A1	T	1	1
AQP6	363	broad.mit.edu	37	12	50367133	50367133	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50367133C>T	uc001rvr.1	+	1	514	c.177C>T	c.(175-177)GCC>GCT	p.A59A	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	59	Helical; (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0																		---	---	---	---	capture		Silent	SNP	50367133	50367133	841	12	C	T	T	21	21	AQP6	T	2	2
POU6F1	5463	broad.mit.edu	37	12	51584140	51584140	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51584140C>T	uc001rxy.2	-	5	988	c.796G>A	c.(796-798)GAA>AAA	p.E266K	POU6F1_uc001rxz.2_Missense_Mutation_p.E266K|POU6F1_uc001rya.2_Missense_Mutation_p.E266K	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	266	Homeobox.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	51584140	51584140	12714	12	C	T	T	29	29	POU6F1	T	2	2
KRT6C	286887	broad.mit.edu	37	12	52863550	52863550	+	Missense_Mutation	SNP	C	A	A	rs147097073		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52863550C>A	uc001sal.3	-	7	1376	c.1328G>T	c.(1327-1329)CGG>CTG	p.R443L		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	443	Rod.|Coil 2.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)														---	---	---	---	capture		Missense_Mutation	SNP	52863550	52863550	8797	12	C	A	A	23	23	KRT6C	A	1	1
KRT5	3852	broad.mit.edu	37	12	52914004	52914004	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52914004G>A	uc001san.2	-	1	240	c.77C>T	c.(76-78)TCT>TTT	p.S26F	KRT5_uc009zmh.2_Missense_Mutation_p.S26F	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	26	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	52914004	52914004	8794	12	G	A	A	33	33	KRT5	A	2	2
KRT78	196374	broad.mit.edu	37	12	53233600	53233600	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53233600G>T	uc001sbc.1	-	7	1280	c.1216C>A	c.(1216-1218)CTG>ATG	p.L406M		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	406	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	53233600	53233600	8806	12	G	T	T	35	35	KRT78	T	2	2
OR10A7	121364	broad.mit.edu	37	12	55614955	55614955	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55614955C>A	uc010spf.1	+	1	147	c.147C>A	c.(145-147)ACC>ACA	p.T49T		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4																		---	---	---	---	capture		Silent	SNP	55614955	55614955	11301	12	C	A	A	21	21	OR10A7	A	2	2
ITGA7	3679	broad.mit.edu	37	12	56091005	56091005	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56091005G>T	uc001shh.2	-	11	1794	c.1574C>A	c.(1573-1575)ACT>AAT	p.T525N	ITGA7_uc001shg.2_Missense_Mutation_p.T521N|ITGA7_uc010sps.1_Missense_Mutation_p.T428N|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.T408N	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	565	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	56091005	56091005	8185	12	G	T	T	36	36	ITGA7	T	2	2
DDIT3	1649	broad.mit.edu	37	12	57910715	57910715	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57910715C>T	uc001soi.2	-	4	567	c.387G>A	c.(385-387)AGG>AGA	p.R129R	MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Silent_p.R152R|DDIT3_uc009zpt.2_Silent_p.R152R	NM_004083	NP_004074	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	129					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		FUS/DDIT3(623)|EWSR1/DDIT3(43)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671								T	FUS	liposarcoma								---	---	---	---	capture		Silent	SNP	57910715	57910715	4501	12	C	T	T	30	30	DDIT3	T	2	2
KIF5A	3798	broad.mit.edu	37	12	57966467	57966467	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57966467G>T	uc001sor.1	+	15	1882	c.1674G>T	c.(1672-1674)CTG>CTT	p.L558L	KIF5A_uc010srr.1_Silent_p.L469L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	558					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	57966467	57966467	8616	12	G	T	T	45	45	KIF5A	T	2	2
OS9	10956	broad.mit.edu	37	12	58111934	58111934	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58111934G>T	uc001spj.2	+	11	1199	c.1140G>T	c.(1138-1140)AAG>AAT	p.K380N	OS9_uc010srx.1_Missense_Mutation_p.K174N|OS9_uc001spk.2_Missense_Mutation_p.K380N|OS9_uc001spl.2_Missense_Mutation_p.K380N|OS9_uc001spm.2_Missense_Mutation_p.K380N|OS9_uc001spn.2_Missense_Mutation_p.K381N|OS9_uc010sry.1_Missense_Mutation_p.K348N|OS9_uc010srz.1_Missense_Mutation_p.K321N	NM_006812	NP_006803	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum	380					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			ovary(1)	1	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)															---	---	---	---	capture		Missense_Mutation	SNP	58111934	58111934	11683	12	G	T	T	34	34	OS9	T	2	2
PPFIA2	8499	broad.mit.edu	37	12	81688782	81688782	+	Silent	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81688782T>A	uc001szo.1	-	24	2918	c.2757A>T	c.(2755-2757)GCA>GCT	p.A919A	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	845										ovary(3)|lung(2)|pancreas(1)	6																		---	---	---	---	capture		Silent	SNP	81688782	81688782	12740	12	T	A	A	55	55	PPFIA2	A	4	4
UHRF1BP1L	23074	broad.mit.edu	37	12	100433461	100433461	+	Silent	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100433461C>G	uc001tgq.2	-	20	4417	c.4188G>C	c.(4186-4188)ACG>ACC	p.T1396T	UHRF1BP1L_uc001tgp.2_Silent_p.T1046T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	1396										ovary(2)	2																		---	---	---	---	capture		Silent	SNP	100433461	100433461	17527	12	C	G	G	27	27	UHRF1BP1L	G	3	3
STAB2	55576	broad.mit.edu	37	12	104089339	104089339	+	Silent	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104089339A>T	uc001tjw.2	+	32	3573	c.3387A>T	c.(3385-3387)CCA>CCT	p.P1129P		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1129	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14																		---	---	---	---	capture		Silent	SNP	104089339	104089339	15756	12	A	T	T	6	6	STAB2	T	4	4
HCFC2	29915	broad.mit.edu	37	12	104489180	104489180	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104489180T>G	uc001tkj.3	+	11	1608	c.1505T>G	c.(1504-1506)CTG>CGG	p.L502R	HCFC2_uc009zul.2_RNA	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	502					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	104489180	104489180	7275	12	T	G	G	55	55	HCFC2	G	4	4
SART3	9733	broad.mit.edu	37	12	108920092	108920092	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108920092C>T	uc001tmz.1	-	16	2389	c.2154G>A	c.(2152-2154)CCG>CCA	p.P718P	SART3_uc001tmy.1_Silent_p.P244P|SART3_uc009zux.1_Silent_p.P330P|SART3_uc010swx.1_Silent_p.P682P|SART3_uc010swy.1_Silent_p.P604P|SART3_uc010swz.1_Missense_Mutation_p.G717R	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	718	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1														Porokeratosis				---	---	---	---	capture		Silent	SNP	108920092	108920092	14328	12	C	T	T	23	23	SART3	T	1	1
ACACB	32	broad.mit.edu	37	12	109665238	109665238	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109665238G>T	uc001tob.2	+	28	4064	c.3945G>T	c.(3943-3945)CCG>CCT	p.P1315P	ACACB_uc001toc.2_Silent_p.P1315P|ACACB_uc010sxl.1_5'Flank|ACACB_uc001tod.2_5'Flank|ACACB_uc010sxm.1_5'Flank	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1315					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)													---	---	---	---	capture		Silent	SNP	109665238	109665238	108	12	G	T	T	39	39	ACACB	T	1	1
MED13L	23389	broad.mit.edu	37	12	116446238	116446238	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116446238C>A	uc001tvw.2	-	10	2035	c.1980G>T	c.(1978-1980)ATG>ATT	p.M660I		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	660					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)														---	---	---	---	capture		Missense_Mutation	SNP	116446238	116446238	9820	12	C	A	A	21	21	MED13L	A	2	2
GLT1D1	144423	broad.mit.edu	37	12	129467608	129467608	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129467608G>T	uc010tbh.1	+	13	1038	c.1029G>T	c.(1027-1029)AGG>AGT	p.R343S	GLT1D1_uc001uhx.1_Missense_Mutation_p.R258S|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	338					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)														---	---	---	---	capture		Missense_Mutation	SNP	129467608	129467608	6733	12	G	T	T	41	41	GLT1D1	T	2	2
MMP17	4326	broad.mit.edu	37	12	132329857	132329857	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132329857G>T	uc001ujc.1	+	8	1166	c.1067G>T	c.(1066-1068)CGG>CTG	p.R356L	MMP17_uc001ujd.1_Missense_Mutation_p.R272L	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	356	Hemopexin-like 1.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)														---	---	---	---	capture		Missense_Mutation	SNP	132329857	132329857	10046	12	G	T	T	39	39	MMP17	T	1	1
ZNF268	10795	broad.mit.edu	37	12	133779072	133779072	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133779072A>G	uc010tcf.1	+	6	1130	c.800A>G	c.(799-801)CAA>CGA	p.Q267R	ZNF268_uc010tbv.1_Missense_Mutation_p.Q106R|ZNF268_uc010tbw.1_Missense_Mutation_p.Q106R|ZNF268_uc010tbx.1_Missense_Mutation_p.Q127R|ZNF268_uc010tby.1_Missense_Mutation_p.Q106R|ZNF268_uc010tbz.1_Missense_Mutation_p.Q106R|ZNF268_uc010tca.1_Missense_Mutation_p.Q106R|ZNF268_uc010tcb.1_Missense_Mutation_p.Q127R|ZNF268_uc010tcc.1_Missense_Mutation_p.Q106R|ZNF268_uc010tcd.1_Missense_Mutation_p.Q106R|ZNF268_uc010tce.1_Missense_Mutation_p.Q106R|ZNF268_uc010tcg.1_Missense_Mutation_p.Q106R|ZNF268_uc010tch.1_Missense_Mutation_p.Q267R	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	267						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)														---	---	---	---	capture		Missense_Mutation	SNP	133779072	133779072	18399	12	A	G	G	5	5	ZNF268	G	4	4
TPTE2	93492	broad.mit.edu	37	13	20039417	20039417	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20039417G>A	uc001umd.2	-	10	865	c.654C>T	c.(652-654)GAC>GAT	p.D218D	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.D107D|TPTE2_uc001ume.2_Silent_p.D141D|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	218	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)														---	---	---	---	capture		Silent	SNP	20039417	20039417	16975	13	G	A	A	44	44	TPTE2	A	2	2
PSPC1	55269	broad.mit.edu	37	13	20346607	20346607	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20346607C>A	uc001uml.2	-	2	635	c.449G>T	c.(448-450)CGC>CTC	p.R150L	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	150	RRM 1.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)														---	---	---	---	capture		Missense_Mutation	SNP	20346607	20346607	13170	13	C	A	A	27	27	PSPC1	A	1	1
SPG20	23111	broad.mit.edu	37	13	36909559	36909559	+	Nonsense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36909559G>A	uc001uvn.2	-	3	679	c.409C>T	c.(409-411)CAG>TAG	p.Q137*	SPG20_uc010ten.1_Nonsense_Mutation_p.Q137*|SPG20_uc001uvm.2_Nonsense_Mutation_p.Q137*|SPG20_uc001uvo.2_Nonsense_Mutation_p.Q137*|SPG20_uc001uvq.2_Nonsense_Mutation_p.Q137*|SPG20_uc001uvp.2_Nonsense_Mutation_p.Q137*	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	137					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)														---	---	---	---	capture		Nonsense_Mutation	SNP	36909559	36909559	15554	13	G	A	A	45	45	SPG20	A	5	2
POSTN	10631	broad.mit.edu	37	13	38145587	38145587	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38145587G>T	uc001uwo.3	-	18	2216	c.2098C>A	c.(2098-2100)CTA>ATA	p.L700I	POSTN_uc010tet.1_Missense_Mutation_p.L201I|POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Missense_Mutation_p.L673I|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Missense_Mutation_p.L673I|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	700					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)														---	---	---	---	capture		Missense_Mutation	SNP	38145587	38145587	12688	13	G	T	T	36	36	POSTN	T	2	2
PCDH17	27253	broad.mit.edu	37	13	58208897	58208897	+	Silent	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58208897T>A	uc001vhq.1	+	1	3109	c.2217T>A	c.(2215-2217)ACT>ACA	p.T739T	PCDH17_uc010aec.1_Silent_p.T739T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	739	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---	capture		Silent	SNP	58208897	58208897	11932	13	T	A	A	56	56	PCDH17	A	4	4
PCDH9	5101	broad.mit.edu	37	13	67799735	67799735	+	Silent	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:67799735A>T	uc001vik.2	-	2	3530	c.2838T>A	c.(2836-2838)CCT>CCA	p.P946P	PCDH9_uc001vil.2_Silent_p.P946P|PCDH9_uc010thl.1_Silent_p.P946P|PCDH9_uc001vin.3_Silent_p.P946P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	946	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)														---	---	---	---	capture		Silent	SNP	67799735	67799735	11938	13	A	T	T	7	7	PCDH9	T	4	4
MYCBP2	23077	broad.mit.edu	37	13	77670488	77670488	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77670488C>G	uc001vkf.2	-	58	9890	c.9799G>C	c.(9799-9801)GAA>CAA	p.E3267Q	MYCBP2_uc010aev.2_Missense_Mutation_p.E2671Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---	capture		Missense_Mutation	SNP	77670488	77670488	10413	13	C	G	G	32	32	MYCBP2	G	3	3
POU4F1	5457	broad.mit.edu	37	13	79175661	79175661	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:79175661C>A	uc001vkv.2	-	2	1383	c.1149G>T	c.(1147-1149)GAG>GAT	p.E383D	uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	POU domain, class 4, transcription factor 1	383	Homeobox.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)														---	---	---	---	capture		Missense_Mutation	SNP	79175661	79175661	12708	13	C	A	A	32	32	POU4F1	A	2	2
GPR18	2841	broad.mit.edu	37	13	99907653	99907653	+	Silent	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99907653C>G	uc001voe.3	-	3	975	c.474G>C	c.(472-474)CTG>CTC	p.L158L	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Silent_p.L158L	NM_005292	NP_005283	Q14330	GPR18_HUMAN	G protein-coupled receptor 18	158	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)													---	---	---	---	capture		Silent	SNP	99907653	99907653	6950	13	C	G	G	25	25	GPR18	G	3	3
FAM155A	728215	broad.mit.edu	37	13	108518418	108518418	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:108518418G>A	uc001vql.2	-	1	1043	c.527C>T	c.(526-528)GCG>GTG	p.A176V		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	176						integral to membrane	binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	108518418	108518418	5663	13	G	A	A	38	38	FAM155A	A	1	1
COL4A2	1284	broad.mit.edu	37	13	111077187	111077187	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111077187C>T	uc001vqx.2	+	5	576	c.287C>T	c.(286-288)CCC>CTC	p.P96L		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	96					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	111077187	111077187	3828	13	C	T	T	22	22	COL4A2	T	2	2
OR4K14	122740	broad.mit.edu	37	14	20483161	20483161	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20483161C>A	uc010tky.1	-	1	192	c.192G>T	c.(190-192)CTG>CTT	p.L64L		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)														---	---	---	---	capture		Silent	SNP	20483161	20483161	11479	14	C	A	A	21	21	OR4K14	A	2	2
FLJ10357	55701	broad.mit.edu	37	14	21547127	21547127	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21547127G>T	uc001vzp.2	+	11	2360	c.2331G>T	c.(2329-2331)GTG>GTT	p.V777V	FLJ10357_uc001vzo.1_5'UTR|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Silent_p.V63V	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	777					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)														---	---	---	---	capture		Silent	SNP	21547127	21547127	6164	14	G	T	T	46	46	FLJ10357	T	2	2
MYH6	4624	broad.mit.edu	37	14	23873577	23873577	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23873577G>A	uc001wjv.2	-	8	730	c.663C>T	c.(661-663)ATC>ATT	p.I221I	MYH6_uc010akp.1_Silent_p.I221I	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	221	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---	capture		Silent	SNP	23873577	23873577	10433	14	G	A	A	45	45	MYH6	A	2	2
FSCB	84075	broad.mit.edu	37	14	44974630	44974630	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44974630C>A	uc001wvn.2	-	1	1870	c.1561G>T	c.(1561-1563)GCC>TCC	p.A521S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	521	Ala-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---	capture		Missense_Mutation	SNP	44974630	44974630	6316	14	C	A	A	26	26	FSCB	A	2	2
FAM179B	23116	broad.mit.edu	37	14	45468664	45468664	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45468664C>G	uc001wvv.2	+	3	2511	c.2302C>G	c.(2302-2304)CAA>GAA	p.Q768E	FAM179B_uc001wvw.2_Missense_Mutation_p.Q768E|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Missense_Mutation_p.Q768E	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	768							binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	45468664	45468664	5712	14	C	G	G	17	17	FAM179B	G	3	3
RTN1	6252	broad.mit.edu	37	14	60072126	60072126	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60072126C>A	uc001xen.1	-	5	2281	c.2072G>T	c.(2071-2073)AGG>ATG	p.R691M	RTN1_uc001xem.1_Missense_Mutation_p.R271M|RTN1_uc001xek.1_Missense_Mutation_p.R123M|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.R108M	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	691	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)														---	---	---	---	capture		Missense_Mutation	SNP	60072126	60072126	14205	14	C	A	A	24	24	RTN1	A	2	2
C14orf135	64430	broad.mit.edu	37	14	60591742	60591742	+	Silent	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60591742A>G	uc001xer.3	+	8	2673	c.2151A>G	c.(2149-2151)GAA>GAG	p.E717E	C14orf135_uc001xeq.2_Silent_p.E717E|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	951						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---	capture		Silent	SNP	60591742	60591742	1793	14	A	G	G	3	3	C14orf135	G	4	4
ACTN1	87	broad.mit.edu	37	14	69341639	69341639	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69341639G>T	uc001xkl.2	-	21	2926	c.2616C>A	c.(2614-2616)TCC>TCA	p.S872S	ACTN1_uc001xkk.2_Silent_p.S468S|ACTN1_uc010ttb.1_Silent_p.S802S|ACTN1_uc001xkm.2_Silent_p.S894S|ACTN1_uc001xkn.2_Silent_p.S867S	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	872					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)														---	---	---	---	capture		Silent	SNP	69341639	69341639	205	14	G	T	T	39	39	ACTN1	T	1	1
C14orf178	283579	broad.mit.edu	37	14	78234794	78234794	+	Splice_Site	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78234794G>T	uc001xug.1	+	3	533	c.75_splice	c.e3-1	p.W25_splice	C14orf178_uc001xuh.1_Intron	NM_174943	NP_777603			hypothetical protein LOC283579											ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)														---	---	---	---	capture		Splice_Site	SNP	78234794	78234794	1810	14	G	T	T	35	35	C14orf178	T	5	2
KIAA1409	57578	broad.mit.edu	37	14	94079210	94079210	+	Silent	SNP	C	T	T	rs149617798	by1000genomes	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94079210C>T	uc001ybv.1	+	25	3440	c.3357C>T	c.(3355-3357)CAC>CAT	p.H1119H	KIAA1409_uc001ybs.1_Silent_p.H1097H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1274						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---	capture		Silent	SNP	94079210	94079210	8539	14	C	T	T	18	18	KIAA1409	T	2	2
ATG2B	55102	broad.mit.edu	37	14	96773242	96773242	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96773242C>T	uc001yfi.2	-	30	4680	c.4315G>A	c.(4315-4317)GAA>AAA	p.E1439K		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1439										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	96773242	96773242	1113	14	C	T	T	29	29	ATG2B	T	2	2
AHNAK2	113146	broad.mit.edu	37	14	105408092	105408092	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105408092C>T	uc010axc.1	-	7	13816	c.13696G>A	c.(13696-13698)GTG>ATG	p.V4566M	AHNAK2_uc001ypx.2_Missense_Mutation_p.V4466M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4566						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	105408092	105408092	418	14	C	T	T	18	18	AHNAK2	T	2	2
AHNAK2	113146	broad.mit.edu	37	14	105408109	105408109	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105408109T>G	uc010axc.1	-	7	13799	c.13679A>C	c.(13678-13680)GAC>GCC	p.D4560A	AHNAK2_uc001ypx.2_Missense_Mutation_p.D4460A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4560						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	105408109	105408109	418	14	T	G	G	58	58	AHNAK2	G	4	4
AHNAK2	113146	broad.mit.edu	37	14	105415986	105415986	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105415986G>A	uc010axc.1	-	7	5922	c.5802C>T	c.(5800-5802)GAC>GAT	p.D1934D	AHNAK2_uc001ypx.2_Silent_p.D1834D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1934						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Silent	SNP	105415986	105415986	418	14	G	A	A	44	44	AHNAK2	A	2	2
AHNAK2	113146	broad.mit.edu	37	14	105416541	105416541	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105416541C>G	uc010axc.1	-	7	5367	c.5247G>C	c.(5245-5247)TTG>TTC	p.L1749F	AHNAK2_uc001ypx.2_Missense_Mutation_p.L1649F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1749						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	105416541	105416541	418	14	C	G	G	29	29	AHNAK2	G	3	3
HERC2	8924	broad.mit.edu	37	15	28478864	28478864	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28478864C>A	uc001zbj.2	-	28	4403	c.4297G>T	c.(4297-4299)GTG>TTG	p.V1433L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1433					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	28478864	28478864	7341	15	C	A	A	19	19	HERC2	A	1	1
GPR176	11245	broad.mit.edu	37	15	40094083	40094083	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40094083G>A	uc001zkj.1	-	3	1664	c.798C>T	c.(796-798)GCC>GCT	p.A266A	GPR176_uc010uck.1_Silent_p.A206A	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	266	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)												OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	40094083	40094083	6948	15	G	A	A	47	47	GPR176	A	2	2
MAPKBP1	23005	broad.mit.edu	37	15	42106796	42106796	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42106796C>T	uc001zok.3	+	11	1333	c.1047C>T	c.(1045-1047)GCC>GCT	p.A349A	MAPKBP1_uc001zoj.3_Silent_p.A343A|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Silent_p.A343A|MAPKBP1_uc010udb.1_Silent_p.A231A|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Intron	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	349	WD 5.									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)														---	---	---	---	capture		Silent	SNP	42106796	42106796	9675	15	C	T	T	24	24	MAPKBP1	T	2	2
ZFP106	64397	broad.mit.edu	37	15	42742430	42742430	+	Silent	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42742430T>C	uc001zpw.2	-	2	2306	c.1971A>G	c.(1969-1971)ACA>ACG	p.T657T	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Silent_p.T440T|ZFP106_uc001zpy.1_Silent_p.T680T	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	657						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)														---	---	---	---	capture		Silent	SNP	42742430	42742430	18225	15	T	C	C	51	51	ZFP106	C	4	4
SNAP23	8773	broad.mit.edu	37	15	42805639	42805639	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42805639C>A	uc001zpz.1	+	4	233	c.142C>A	c.(142-144)CAA>AAA	p.Q48K	SNAP23_uc001zqa.1_Missense_Mutation_p.Q48K	NM_003825	NP_003816	O00161	SNP23_HUMAN	synaptosomal-associated protein 23 isoform	48	t-SNARE coiled-coil homology 1.				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding				0		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)														---	---	---	---	capture		Missense_Mutation	SNP	42805639	42805639	15329	15	C	A	A	17	17	SNAP23	A	2	2
SLC24A5	283652	broad.mit.edu	37	15	48429046	48429046	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48429046G>A	uc001zwe.2	+	6	830	c.757G>A	c.(757-759)GAA>AAA	p.E253K	SLC24A5_uc010bel.2_Missense_Mutation_p.E193K|uc001zwf.1_5'Flank	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	solute carrier family 24, member 5 precursor	253	Cytoplasmic (Potential).				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity				0		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)														---	---	---	---	capture		Missense_Mutation	SNP	48429046	48429046	14966	15	G	A	A	45	45	SLC24A5	A	2	2
C15orf33	196951	broad.mit.edu	37	15	49833966	49833966	+	Missense_Mutation	SNP	G	A	A	rs148925050		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49833966G>A	uc001zxl.2	-	10	1079	c.785C>T	c.(784-786)ACG>ATG	p.T262M	C15orf33_uc001zxm.2_Missense_Mutation_p.T228M	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	262										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)														---	---	---	---	capture		Missense_Mutation	SNP	49833966	49833966	1841	15	G	A	A	40	40	C15orf33	A	1	1
THSD4	79875	broad.mit.edu	37	15	72039276	72039276	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72039276G>A	uc002atb.1	+	12	2215	c.2136G>A	c.(2134-2136)CTG>CTA	p.L712L	THSD4_uc002ate.2_Silent_p.L352L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	712	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	72039276	72039276	16406	15	G	A	A	45	45	THSD4	A	2	2
CCDC33	80125	broad.mit.edu	37	15	74554868	74554868	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74554868G>A	uc002axo.2	+	3	667	c.273G>A	c.(271-273)GGG>GGA	p.G91G		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	294	C2.						protein binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Silent	SNP	74554868	74554868	2928	15	G	A	A	43	43	CCDC33	A	2	2
ADAMTS7	11173	broad.mit.edu	37	15	79059018	79059018	+	Missense_Mutation	SNP	C	A	A	rs142710954		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79059018C>A	uc002bej.3	-	19	3446	c.3235G>T	c.(3235-3237)GGG>TGG	p.G1079W	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1079					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	79059018	79059018	272	15	C	A	A	23	23	ADAMTS7	A	1	1
ARNT2	9915	broad.mit.edu	37	15	80806740	80806740	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80806740C>A	uc002bfr.2	+	8	1037	c.871C>A	c.(871-873)CCA>ACA	p.P291T	ARNT2_uc010unm.1_Missense_Mutation_p.P280T|ARNT2_uc002bfs.2_Missense_Mutation_p.P280T	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	291					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	80806740	80806740	984	15	C	A	A	18	18	ARNT2	A	2	2
AP3B2	8120	broad.mit.edu	37	15	83333598	83333598	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83333598G>A	uc010uoh.1	-	17	2246	c.2069C>T	c.(2068-2070)TCC>TTC	p.S690F	AP3B2_uc010uoi.1_Missense_Mutation_p.S709F|AP3B2_uc010uoj.1_Missense_Mutation_p.S658F|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.S326F|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	690	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	83333598	83333598	755	15	G	A	A	41	41	AP3B2	A	2	2
BNC1	646	broad.mit.edu	37	15	83926867	83926867	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83926867T>C	uc002bjt.1	-	5	2400	c.2312A>G	c.(2311-2313)AAC>AGC	p.N771S	BNC1_uc010uos.1_Missense_Mutation_p.N759S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	771	C2H2-type 4.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	83926867	83926867	1499	15	T	C	C	60	60	BNC1	C	4	4
ALPK3	57538	broad.mit.edu	37	15	85401403	85401403	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85401403G>T	uc002ble.2	+	6	4207	c.4040G>T	c.(4039-4041)GGG>GTG	p.G1347V		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1347					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---	capture		Missense_Mutation	SNP	85401403	85401403	549	15	G	T	T	43	43	ALPK3	T	2	2
WDR93	56964	broad.mit.edu	37	15	90255313	90255313	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90255313C>A	uc002boj.2	+	5	719	c.618C>A	c.(616-618)GAC>GAA	p.D206E	WDR93_uc010bnr.2_Missense_Mutation_p.D206E	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	206					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---	capture		Missense_Mutation	SNP	90255313	90255313	17914	15	C	A	A	20	20	WDR93	A	2	2
SNRPA1	6627	broad.mit.edu	37	15	101832213	101832213	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101832213G>A	uc002bww.2	-	3	340	c.263C>T	c.(262-264)CCC>CTC	p.P88L	SNRPA1_uc002bwx.2_Intron|SNRPA1_uc010bpc.2_Intron	NM_003090	NP_003081	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	88						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			kidney(1)	1	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---	capture		Missense_Mutation	SNP	101832213	101832213	15360	15	G	A	A	43	43	SNRPA1	A	2	2
TARSL2	123283	broad.mit.edu	37	15	102261405	102261405	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102261405C>A	uc002bxm.2	-	3	545	c.490G>T	c.(490-492)GTA>TTA	p.V164L	TARSL2_uc010usi.1_RNA	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	164					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---	capture		Missense_Mutation	SNP	102261405	102261405	16083	15	C	A	A	20	20	TARSL2	A	2	2
OR4F6	390648	broad.mit.edu	37	15	102346577	102346577	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102346577A>G	uc010utr.1	+	1	655	c.655A>G	c.(655-657)ATC>GTC	p.I219V		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)															---	---	---	---	capture		Missense_Mutation	SNP	102346577	102346577	11476	15	A	G	G	8	8	OR4F6	G	4	4
NARFL	64428	broad.mit.edu	37	16	789680	789680	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:789680C>T	uc002cjr.2	-	2	137	c.125G>A	c.(124-126)CGC>CAC	p.R42H	NARFL_uc002cjp.2_5'Flank|NARFL_uc002cjq.2_5'UTR|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_Missense_Mutation_p.R42H|NARFL_uc010uur.1_Missense_Mutation_p.R42H	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	42					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)																---	---	---	---	capture		Missense_Mutation	SNP	789680	789680	10564	16	C	T	T	27	27	NARFL	T	1	1
SOX8	30812	broad.mit.edu	37	16	1034811	1034811	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1034811C>A	uc002ckn.2	+	3	881	c.766C>A	c.(766-768)CGC>AGC	p.R256S		NM_014587	NP_055402	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	256					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2		Hepatocellular(780;0.00308)																---	---	---	---	capture		Missense_Mutation	SNP	1034811	1034811	15457	16	C	A	A	27	27	SOX8	A	1	1
GP2	2813	broad.mit.edu	37	16	20331786	20331786	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20331786C>T	uc002dgv.2	-	6	748	c.665G>A	c.(664-666)AGT>AAT	p.S222N	GP2_uc002dgw.2_Missense_Mutation_p.S219N|GP2_uc002dgx.2_Missense_Mutation_p.S75N|GP2_uc002dgy.2_Missense_Mutation_p.S72N	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	222	EGF-like.					anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	20331786	20331786	6856	16	C	T	T	20	20	GP2	T	2	2
IGSF6	10261	broad.mit.edu	37	16	21655691	21655691	+	Missense_Mutation	SNP	G	C	C	rs75597368	byFrequency;by1000genomes	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21655691G>C	uc002djg.1	-	3	507	c.454C>G	c.(454-456)CGG>GGG	p.R152G	uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron	NM_005849	NP_005840	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6 precursor	152	Extracellular (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0				GBM - Glioblastoma multiforme(48;0.066)														---	---	---	---	capture		Missense_Mutation	SNP	21655691	21655691	7904	16	G	C	C	38	38	IGSF6	C	3	3
RNF40	9810	broad.mit.edu	37	16	30773976	30773976	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30773976G>A	uc002dzq.2	+	2	233	c.110G>A	c.(109-111)CGT>CAT	p.R37H	C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.R37H|RNF40_uc010cab.2_Missense_Mutation_p.R37H|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.R37H|RNF40_uc010vfb.1_Missense_Mutation_p.R37H	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	37					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	30773976	30773976	13972	16	G	A	A	40	40	RNF40	A	1	1
ITGAM	3684	broad.mit.edu	37	16	31309153	31309153	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31309153G>T	uc002ebq.2	+	14	1683	c.1585G>T	c.(1585-1587)GAC>TAC	p.D529Y	ITGAM_uc002ebr.2_Missense_Mutation_p.D530Y|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	529	FG-GAP 6.|Extracellular (Potential).|Potential.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	31309153	31309153	8191	16	G	T	T	41	41	ITGAM	T	2	2
ABCC12	94160	broad.mit.edu	37	16	48158195	48158195	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48158195C>G	uc002efc.1	-	10	1862	c.1516G>C	c.(1516-1518)GGG>CGG	p.G506R	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.G506R	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	506	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)																---	---	---	---	capture		Missense_Mutation	SNP	48158195	48158195	53	16	C	G	G	22	22	ABCC12	G	3	3
CDH16	1014	broad.mit.edu	37	16	66947503	66947503	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66947503C>A	uc002eql.2	-	8	867	c.794G>T	c.(793-795)GGG>GTG	p.G265V	CDH16_uc010cdy.2_Missense_Mutation_p.G265V|CDH16_uc002eqm.2_Missense_Mutation_p.G168V	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	265	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)														---	---	---	---	capture		Missense_Mutation	SNP	66947503	66947503	3230	16	C	A	A	22	22	CDH16	A	2	2
ATP2C2	9914	broad.mit.edu	37	16	84473128	84473128	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84473128G>A	uc002fhx.2	+	13	1296	c.1207G>A	c.(1207-1209)GAG>AAG	p.E403K	ATP2C2_uc010chj.2_Missense_Mutation_p.E403K|ATP2C2_uc002fhy.2_Missense_Mutation_p.E420K|ATP2C2_uc002fhz.2_Missense_Mutation_p.E252K	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	403	Extracellular (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	84473128	84473128	1163	16	G	A	A	37	37	ATP2C2	A	1	1
DNAH9	1770	broad.mit.edu	37	17	11520814	11520814	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11520814G>T	uc002gne.2	+	5	1059	c.991G>T	c.(991-993)GTG>TTG	p.V331L		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	331	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---	capture		Missense_Mutation	SNP	11520814	11520814	4791	17	G	T	T	44	44	DNAH9	T	2	2
ADORA2B	136	broad.mit.edu	37	17	15878130	15878130	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15878130G>T	uc002gpd.1	+	2	805	c.473G>T	c.(472-474)TGG>TTG	p.W158L		NM_000676	NP_000667	P29275	AA2BR_HUMAN	adenosine A2b receptor	158	Extracellular (By similarity).				activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)													---	---	---	---	capture		Missense_Mutation	SNP	15878130	15878130	329	17	G	T	T	47	47	ADORA2B	T	2	2
TAOK1	57551	broad.mit.edu	37	17	27818857	27818857	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27818857C>G	uc002hdz.1	+	10	999	c.805C>G	c.(805-807)CGA>GGA	p.R269G	TAOK1_uc010wbe.1_Missense_Mutation_p.R269G|TAOK1_uc010wbf.1_Missense_Mutation_p.R269G|TAOK1_uc002heb.1_Missense_Mutation_p.R95G	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	269	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	27818857	27818857	16068	17	C	G	G	31	31	TAOK1	G	3	3
LYZL6	57151	broad.mit.edu	37	17	34263782	34263782	+	Silent	SNP	G	T	T	rs148658809		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34263782G>T	uc002hkj.1	-	3	504	c.354C>A	c.(352-354)TCC>TCA	p.S118S	LYZL6_uc002hkk.1_Silent_p.S118S	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	118					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---	capture		Silent	SNP	34263782	34263782	9511	17	G	T	T	39	39	LYZL6	T	1	1
COPZ2	51226	broad.mit.edu	37	17	46109586	46109586	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46109586T>C	uc002imy.2	-	10	443	c.430A>G	c.(430-432)AAG>GAG	p.K144E		NM_016429	NP_057513	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	144					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat					0																		---	---	---	---	capture		Missense_Mutation	SNP	46109586	46109586	3880	17	T	C	C	62	62	COPZ2	C	4	4
EPX	8288	broad.mit.edu	37	17	56277147	56277147	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56277147T>C	uc002ivq.2	+	9	1615	c.1529T>C	c.(1528-1530)GTG>GCG	p.V510A		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	510					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	56277147	56277147	5393	17	T	C	C	59	59	EPX	C	4	4
BZRAP1	9256	broad.mit.edu	37	17	56389036	56389036	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56389036G>A	uc002ivx.3	-	18	3848	c.2977C>T	c.(2977-2979)CCT>TCT	p.P993S	BZRAP1_uc010dcs.2_Missense_Mutation_p.P933S|BZRAP1_uc010wnt.1_Missense_Mutation_p.P993S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	993	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---	capture		Missense_Mutation	SNP	56389036	56389036	1611	17	G	A	A	43	43	BZRAP1	A	2	2
CLTC	1213	broad.mit.edu	37	17	57754494	57754494	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57754494C>T	uc002ixq.1	+	17	3184	c.2741C>T	c.(2740-2742)CCA>CTA	p.P914L	CLTC_uc002ixp.2_Missense_Mutation_p.P914L|CLTC_uc002ixr.1_Missense_Mutation_p.P918L	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	914	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							T	ALK|TFE3	ALCL|renal 								---	---	---	---	capture		Missense_Mutation	SNP	57754494	57754494	3704	17	C	T	T	21	21	CLTC	T	2	2
TBX2	6909	broad.mit.edu	37	17	59480532	59480532	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59480532C>A	uc010wox.1	+	3	1055	c.774C>A	c.(772-774)ACC>ACA	p.T258T	TBX2_uc002ize.2_Silent_p.T248T|TBX2_uc002izg.2_Silent_p.T104T	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	258	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0																		---	---	---	---	capture		Silent	SNP	59480532	59480532	16181	17	C	A	A	23	23	TBX2	A	1	1
FTSJ3	117246	broad.mit.edu	37	17	61897535	61897535	+	Splice_Site	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61897535T>C	uc002jbz.2	-	19	2335	c.2257_splice	c.e19-1	p.M753_splice	FTSJ3_uc002jca.2_Splice_Site_p.M753_splice	NM_017647	NP_060117			FtsJ homolog 3						RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1																		---	---	---	---	capture		Splice_Site	SNP	61897535	61897535	6340	17	T	C	C	55	55	FTSJ3	C	5	4
TEX2	55852	broad.mit.edu	37	17	62290610	62290610	+	Nonsense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62290610G>C	uc002jec.2	-	2	1141	c.968C>G	c.(967-969)TCA>TGA	p.S323*	TEX2_uc002jed.2_Nonsense_Mutation_p.S323*|TEX2_uc002jee.2_Nonsense_Mutation_p.S323*	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	323					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)														---	---	---	---	capture		Nonsense_Mutation	SNP	62290610	62290610	16308	17	G	C	C	45	45	TEX2	C	5	3
FAM20A	54757	broad.mit.edu	37	17	66551763	66551763	+	Silent	SNP	G	T	T	rs149777674	byFrequency	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66551763G>T	uc002jho.2	-	2	814	c.526C>A	c.(526-528)CGG>AGG	p.R176R	FAM20A_uc010wqp.1_Silent_p.R38R|FAM20A_uc002jhn.2_5'UTR	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	176						extracellular region					0	Breast(10;1.64e-13)																	---	---	---	---	capture		Silent	SNP	66551763	66551763	5752	17	G	T	T	39	39	FAM20A	T	1	1
ITGB4	3691	broad.mit.edu	37	17	73727328	73727328	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73727328G>T	uc002jpg.2	+	10	1281	c.1094G>T	c.(1093-1095)CGG>CTG	p.R365L	ITGB4_uc002jph.2_Missense_Mutation_p.R365L|ITGB4_uc010dgo.2_Missense_Mutation_p.R365L|ITGB4_uc002jpi.3_Missense_Mutation_p.R365L|ITGB4_uc010dgp.1_Missense_Mutation_p.R365L|ITGB4_uc002jpj.2_Missense_Mutation_p.R365L|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	365	Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	73727328	73727328	8201	17	G	T	T	39	39	ITGB4	T	1	1
RHBDF2	79651	broad.mit.edu	37	17	74477512	74477512	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74477512G>T	uc002jrq.1	-	3	388	c.95C>A	c.(94-96)CCG>CAG	p.P32Q	RHBDF2_uc002jrp.1_Missense_Mutation_p.P32Q|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.P32Q|RHBDF2_uc002jrs.1_Missense_Mutation_p.P32Q	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	32	Cytoplasmic (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	74477512	74477512	13795	17	G	T	T	39	39	RHBDF2	T	1	1
CCDC40	55036	broad.mit.edu	37	17	78058646	78058646	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78058646G>A	uc010dht.2	+	13	2121	c.2094G>A	c.(2092-2094)CTG>CTA	p.L698L	CCDC40_uc002jxm.3_Silent_p.L481L|CCDC40_uc002jxn.3_Silent_p.L94L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	698	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)															---	---	---	---	capture		Silent	SNP	78058646	78058646	2934	17	G	A	A	47	47	CCDC40	A	2	2
SIRT7	51547	broad.mit.edu	37	17	79872183	79872183	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79872183C>A	uc002kcj.1	-	7	836	c.803G>T	c.(802-804)GGG>GTG	p.G268V	PCYT2_uc002kcf.1_5'Flank|PCYT2_uc002kcg.1_5'Flank|PCYT2_uc002kch.1_5'Flank|PCYT2_uc002kci.1_5'Flank|PCYT2_uc010dii.1_5'Flank|PCYT2_uc010wvc.1_5'Flank|SIRT7_uc002kck.1_Missense_Mutation_p.G119V|SIRT7_uc002kcl.1_Missense_Mutation_p.G186V	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	sirtuin 7	268	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)															---	---	---	---	capture		Missense_Mutation	SNP	79872183	79872183	14838	17	C	A	A	22	22	SIRT7	A	2	2
CTAGE1	64693	broad.mit.edu	37	18	19996144	19996144	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19996144C>A	uc002ktv.1	-	1	1735	c.1631G>T	c.(1630-1632)GGA>GTA	p.G544V		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	544						integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)																	---	---	---	---	capture		Missense_Mutation	SNP	19996144	19996144	4151	18	C	A	A	30	30	CTAGE1	A	2	2
DSC1	1823	broad.mit.edu	37	18	28719713	28719713	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28719713G>T	uc002kwn.2	-	11	1923	c.1661C>A	c.(1660-1662)GCA>GAA	p.A554E	DSC1_uc002kwm.2_Missense_Mutation_p.A554E	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	554	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)															---	---	---	---	capture		Missense_Mutation	SNP	28719713	28719713	4949	18	G	T	T	46	46	DSC1	T	2	2
DSG1	1828	broad.mit.edu	37	18	28934344	28934344	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28934344C>A	uc002kwp.2	+	15	2397	c.2185C>A	c.(2185-2187)CCT>ACT	p.P729T	DSG1_uc010xbp.1_Missense_Mutation_p.P88T	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	729	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)															---	---	---	---	capture		Missense_Mutation	SNP	28934344	28934344	4960	18	C	A	A	22	22	DSG1	A	2	2
MEP1B	4225	broad.mit.edu	37	18	29793520	29793520	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29793520C>A	uc002kxj.3	+	11	1624	c.1577C>A	c.(1576-1578)ACC>AAC	p.T526N		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	526	Extracellular (Potential).|MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	29793520	29793520	9865	18	C	A	A	18	18	MEP1B	A	2	2
FAM59A	64762	broad.mit.edu	37	18	29867260	29867260	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29867260G>T	uc002kxl.2	-	4	1356	c.1300C>A	c.(1300-1302)CTT>ATT	p.L434I	FAM59A_uc002kxk.1_Missense_Mutation_p.L434I	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	434										ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	29867260	29867260	5814	18	G	T	T	35	35	FAM59A	T	2	2
C18orf34	374864	broad.mit.edu	37	18	30873191	30873191	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30873191C>A	uc002kxn.2	-	11	1250	c.1108G>T	c.(1108-1110)GAG>TAG	p.E370*	C18orf34_uc010xbr.1_Nonsense_Mutation_p.E370*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.E370*|C18orf34_uc002kxp.2_Nonsense_Mutation_p.E370*	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	370	Potential.									ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	30873191	30873191	1963	18	C	A	A	32	32	C18orf34	A	5	2
ELP2	55250	broad.mit.edu	37	18	33710009	33710009	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33710009G>T	uc002kzk.1	+	1	123	c.113G>T	c.(112-114)TGC>TTC	p.C38F	SLC39A6_uc010dmy.2_5'Flank|SLC39A6_uc002kzj.2_5'Flank|ELP2_uc010xcg.1_Missense_Mutation_p.C38F|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.C38F|ELP2_uc010xch.1_Missense_Mutation_p.C38F|ELP2_uc002kzn.1_Missense_Mutation_p.C38F|ELP2_uc002kzo.1_Missense_Mutation_p.C38F	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	38	WD 1.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	33710009	33710009	5272	18	G	T	T	46	46	ELP2	T	2	2
DCC	1630	broad.mit.edu	37	18	50592439	50592439	+	Silent	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:50592439T>A	uc002lfe.1	+	7	1751	c.1164T>A	c.(1162-1164)CTT>CTA	p.L388L	DCC_uc010xdr.1_Silent_p.L236L|DCC_uc010dpf.1_Silent_p.L43L	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	388	Extracellular (Potential).|Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---	capture		Silent	SNP	50592439	50592439	4453	18	T	A	A	63	63	DCC	A	4	4
DSEL	92126	broad.mit.edu	37	18	65181699	65181699	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:65181699A>T	uc002lke.1	-	2	1401	c.177T>A	c.(175-177)GAT>GAA	p.D59E		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	49						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)																---	---	---	---	capture		Missense_Mutation	SNP	65181699	65181699	4959	18	A	T	T	4	4	DSEL	T	4	4
LPHN1	22859	broad.mit.edu	37	19	14273977	14273977	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14273977C>A	uc010xnn.1	-	6	947	c.651G>T	c.(649-651)GTG>GTT	p.V217V	LPHN1_uc010xno.1_Silent_p.V212V|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	217	Olfactomedin-like.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5																		---	---	---	---	capture		Silent	SNP	14273977	14273977	9288	19	C	A	A	21	21	LPHN1	A	2	2
NWD1	284434	broad.mit.edu	37	19	16902313	16902313	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16902313G>T	uc002neu.3	+	14	3515	c.3093G>T	c.(3091-3093)ACG>ACT	p.T1031T	NWD1_uc002net.3_Silent_p.T896T|NWD1_uc002nev.3_Silent_p.T825T			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1031	WD 5.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---	capture		Silent	SNP	16902313	16902313	11186	19	G	T	T	39	39	NWD1	T	1	1
ZNF43	7594	broad.mit.edu	37	19	21991722	21991722	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21991722T>C	uc002nqj.2	-	4	1247	c.1117A>G	c.(1117-1119)ACA>GCA	p.T373A	ZNF43_uc010ecv.2_Missense_Mutation_p.T367A|ZNF43_uc002nql.2_Missense_Mutation_p.T367A|ZNF43_uc002nqm.2_Missense_Mutation_p.T367A|ZNF43_uc002nqk.2_Missense_Mutation_p.T303A	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	373	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)														---	---	---	---	capture		Missense_Mutation	SNP	21991722	21991722	18496	19	T	C	C	57	57	ZNF43	C	4	4
CCNE1	898	broad.mit.edu	37	19	30313189	30313189	+	Missense_Mutation	SNP	C	A	A	rs139792204	byFrequency	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30313189C>A	uc002nsn.2	+	10	1066	c.883C>A	c.(883-885)CCT>ACT	p.P295T	CCNE1_uc002nso.2_Missense_Mutation_p.P280T|CCNE1_uc002nsp.2_Missense_Mutation_p.P42T	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	295					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	30313189	30313189	3047	19	C	A	A	30	30	CCNE1	A	2	2
GAPDHS	26330	broad.mit.edu	37	19	36034322	36034322	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36034322C>A	uc002oaf.1	+	8	938	c.822C>A	c.(820-822)GCC>GCA	p.A274A	uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	274					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)													---	---	---	---	capture		Silent	SNP	36034322	36034322	6501	19	C	A	A	22	22	GAPDHS	A	2	2
ZNF527	84503	broad.mit.edu	37	19	37880462	37880462	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37880462G>A	uc010efk.1	+	5	1622	c.1511G>A	c.(1510-1512)GGG>GAG	p.G504E	ZNF527_uc002ogf.3_Missense_Mutation_p.G472E|ZNF527_uc010xtq.1_RNA	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	504	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	37880462	37880462	18562	19	G	A	A	43	43	ZNF527	A	2	2
ZNF781	163115	broad.mit.edu	37	19	38160382	38160382	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38160382A>G	uc002ogy.2	-	4	1410	c.668T>C	c.(667-669)ATA>ACA	p.I223T	ZNF781_uc002ogz.2_Missense_Mutation_p.I218T	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	38160382	38160382	18752	19	A	G	G	16	16	ZNF781	G	4	4
SIPA1L3	23094	broad.mit.edu	37	19	38572647	38572647	+	Missense_Mutation	SNP	G	C	C	rs138476311	byFrequency	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38572647G>C	uc002ohk.2	+	3	951	c.442G>C	c.(442-444)GAC>CAC	p.D148H		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	148					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)															---	---	---	---	capture		Missense_Mutation	SNP	38572647	38572647	14826	19	G	C	C	33	33	SIPA1L3	C	3	3
IL28A	282616	broad.mit.edu	37	19	39760578	39760578	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39760578C>T	uc002oku.1	+	6	580	c.528C>T	c.(526-528)GCC>GCT	p.A176A		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	176					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---	capture		Silent	SNP	39760578	39760578	7983	19	C	T	T	24	24	IL28A	T	2	2
IRGQ	126298	broad.mit.edu	37	19	44096971	44096971	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44096971C>T	uc002oww.2	-	2	1197	c.1079G>A	c.(1078-1080)GGG>GAG	p.G360E	IRGQ_uc010eiv.2_Missense_Mutation_p.G360E	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	360	Poly-Gly.						protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)																---	---	---	---	capture		Missense_Mutation	SNP	44096971	44096971	8143	19	C	T	T	22	22	IRGQ	T	2	2
TOMM40	10452	broad.mit.edu	37	19	45397079	45397079	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45397079C>G	uc002ozx.3	+	5	579	c.478C>G	c.(478-480)CTC>GTC	p.L160V	TOMM40_uc002ozy.3_Missense_Mutation_p.L160V|TOMM40_uc002paa.3_Missense_Mutation_p.L160V|TOMM40_uc002ozz.2_Missense_Mutation_p.L160V	NM_006114	NP_006105	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40	160					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)														---	---	---	---	capture		Missense_Mutation	SNP	45397079	45397079	16899	19	C	G	G	32	32	TOMM40	G	3	3
PPP1R13L	10848	broad.mit.edu	37	19	45888902	45888902	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45888902G>A	uc002pbn.2	-	11	2243	c.2166C>T	c.(2164-2166)ACC>ACT	p.T722T	PPP1R13L_uc002pbm.2_Silent_p.T301T|PPP1R13L_uc002pbo.2_Silent_p.T722T	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	722	ANK 2.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)														---	---	---	---	capture		Silent	SNP	45888902	45888902	12793	19	G	A	A	47	47	PPP1R13L	A	2	2
CARD8	22900	broad.mit.edu	37	19	48734082	48734082	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48734082C>G	uc002pie.3	-	5	722	c.409G>C	c.(409-411)GAG>CAG	p.E137Q	CARD8_uc002pii.3_Missense_Mutation_p.E242Q|CARD8_uc010xzi.1_Missense_Mutation_p.E137Q|CARD8_uc010els.2_Missense_Mutation_p.E175Q|CARD8_uc010xzj.1_Missense_Mutation_p.E242Q|CARD8_uc010xzk.1_Missense_Mutation_p.E161Q|CARD8_uc002pif.3_Missense_Mutation_p.E137Q|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Missense_Mutation_p.E192Q|CARD8_uc010xzl.1_Missense_Mutation_p.E192Q|CARD8_uc010xzm.1_Missense_Mutation_p.E242Q	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	137					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)														---	---	---	---	capture		Missense_Mutation	SNP	48734082	48734082	2770	19	C	G	G	32	32	CARD8	G	3	3
CPT1C	126129	broad.mit.edu	37	19	50213984	50213984	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50213984G>T	uc002ppj.2	+	15	1941	c.1736G>T	c.(1735-1737)AGG>ATG	p.R579M	CPT1C_uc002ppl.3_3'UTR|CPT1C_uc002ppi.2_Missense_Mutation_p.R496M|CPT1C_uc002ppk.2_Missense_Mutation_p.R568M|CPT1C_uc010eng.2_Missense_Mutation_p.R579M|CPT1C_uc010enh.2_Missense_Mutation_p.R579M|CPT1C_uc010ybc.1_3'UTR|CPT1C_uc010eni.1_Missense_Mutation_p.R236M	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	579	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)														---	---	---	---	capture		Missense_Mutation	SNP	50213984	50213984	3972	19	G	T	T	35	35	CPT1C	T	2	2
SIGLEC11	114132	broad.mit.edu	37	19	50462101	50462101	+	Missense_Mutation	SNP	G	T	T	rs145434757	byFrequency	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50462101G>T	uc010ybh.1	-	7	1253	c.1162C>A	c.(1162-1164)CGC>AGC	p.R388S	SIGLEC11_uc010ybi.1_Missense_Mutation_p.R388S	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	388	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)														---	---	---	---	capture		Missense_Mutation	SNP	50462101	50462101	14802	19	G	T	T	38	38	SIGLEC11	T	1	1
ZNF473	25888	broad.mit.edu	37	19	50549003	50549003	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50549003G>C	uc002prn.2	+	5	1540	c.1303G>C	c.(1303-1305)GAG>CAG	p.E435Q	ZNF473_uc002prm.2_Missense_Mutation_p.E435Q|ZNF473_uc010ybo.1_Missense_Mutation_p.E423Q	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	435	C2H2-type 7.|Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)														---	---	---	---	capture		Missense_Mutation	SNP	50549003	50549003	18525	19	G	C	C	45	45	ZNF473	C	3	3
ZNF473	25888	broad.mit.edu	37	19	50549375	50549375	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50549375G>C	uc002prn.2	+	5	1912	c.1675G>C	c.(1675-1677)GAG>CAG	p.E559Q	ZNF473_uc002prm.2_Missense_Mutation_p.E559Q|ZNF473_uc010ybo.1_Missense_Mutation_p.E547Q	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	559					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)														---	---	---	---	capture		Missense_Mutation	SNP	50549375	50549375	18525	19	G	C	C	33	33	ZNF473	C	3	3
SHANK1	50944	broad.mit.edu	37	19	51200905	51200905	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51200905C>T	uc002psx.1	-	13	1897	c.1878G>A	c.(1876-1878)AAG>AAA	p.K626K		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	626					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)														---	---	---	---	capture		Silent	SNP	51200905	51200905	14756	19	C	T	T	24	24	SHANK1	T	2	2
KLK6	5653	broad.mit.edu	37	19	51462505	51462505	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51462505G>T	uc002pui.2	-	7	910	c.650C>A	c.(649-651)CCC>CAC	p.P217H	KLK6_uc010eoj.2_Missense_Mutation_p.P89T|KLK6_uc002puh.2_Missense_Mutation_p.P226H|KLK6_uc002puj.2_Missense_Mutation_p.P110H|KLK6_uc010ycn.1_Missense_Mutation_p.P110H|KLK6_uc002pul.2_Missense_Mutation_p.P217H|KLK6_uc002pum.2_Missense_Mutation_p.P110H	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	217	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)														---	---	---	---	capture		Missense_Mutation	SNP	51462505	51462505	8722	19	G	T	T	43	43	KLK6	T	2	2
CD33	945	broad.mit.edu	37	19	51729094	51729094	+	Missense_Mutation	SNP	A	T	T	rs149059669		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51729094A>T	uc002pwa.2	+	3	494	c.454A>T	c.(454-456)ACT>TCT	p.T152S	CD33_uc010eos.1_Missense_Mutation_p.T152S|CD33_uc010eot.1_Missense_Mutation_p.T25S|CD33_uc010eou.1_RNA	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	152	Extracellular (Potential).|Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)													---	---	---	---	capture		Missense_Mutation	SNP	51729094	51729094	3133	19	A	T	T	6	6	CD33	T	4	4
C19orf75	284369	broad.mit.edu	37	19	51769043	51769043	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51769043T>C	uc002pwb.1	+	4	698	c.317T>C	c.(316-318)TTG>TCG	p.L106S	C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.L12S	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	106						integral to membrane				ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	51769043	51769043	2015	19	T	C	C	63	63	C19orf75	C	4	4
VN1R4	317703	broad.mit.edu	37	19	53770038	53770038	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53770038C>A	uc010ydu.1	-	1	881	c.881G>T	c.(880-882)AGG>ATG	p.R294M		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	294	Cytoplasmic (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)											HNSCC(26;0.072)			---	---	---	---	capture		Missense_Mutation	SNP	53770038	53770038	17747	19	C	A	A	24	24	VN1R4	A	2	2
LILRB5	10990	broad.mit.edu	37	19	54758762	54758762	+	Missense_Mutation	SNP	G	T	T	rs149797743	byFrequency	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54758762G>T	uc002qex.2	-	6	1202	c.1091C>A	c.(1090-1092)CCG>CAG	p.P364Q	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.P355Q|LILRB5_uc002qey.2_Missense_Mutation_p.P364Q|LILRB5_uc002qez.2_Missense_Mutation_p.P264Q|LILRB5_uc002qfa.1_Missense_Mutation_p.P254Q|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	364	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---	capture		Missense_Mutation	SNP	54758762	54758762	9120	19	G	T	T	39	39	LILRB5	T	1	1
KIR2DS4	3809	broad.mit.edu	37	19	55349311	55349311	+	Silent	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55349311T>C	uc002qhm.1	+	3	397	c.351T>C	c.(349-351)CCT>CCC	p.P117P	KIR2DS4_uc010yfj.1_Silent_p.P110P|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.P117P|KIR2DS4_uc002qhn.1_Silent_p.P64P	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	117	Extracellular (Potential).					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---	capture		Silent	SNP	55349311	55349311	8631	19	T	C	C	54	54	KIR2DS4	C	4	4
TMEM150B	284417	broad.mit.edu	37	19	55832413	55832413	+	Splice_Site	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55832413C>G	uc010esw.1	-	3	166	c.-7_splice	c.e3-1		TMEM150B_uc010yfu.1_5'UTR|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_Splice_Site|TMEM150B_uc002qki.2_5'UTR	NM_001085488	NP_001078957			transmembrane protein 150B precursor							integral to membrane					0																		---	---	---	---	capture		Splice_Site	SNP	55832413	55832413	16600	19	C	G	G	32	32	TMEM150B	G	5	3
NLRP4	147945	broad.mit.edu	37	19	56369842	56369842	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56369842G>T	uc002qmd.3	+	3	1505	c.1083G>T	c.(1081-1083)CTG>CTT	p.L361L	NLRP4_uc002qmf.2_Silent_p.L286L|NLRP4_uc010etf.2_Silent_p.L192L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	361	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---	capture		Silent	SNP	56369842	56369842	10882	19	G	T	T	47	47	NLRP4	T	2	2
ZNF211	10520	broad.mit.edu	37	19	58152141	58152141	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58152141A>C	uc002qpq.2	+	3	467	c.287A>C	c.(286-288)CAG>CCG	p.Q96P	ZNF211_uc010yhb.1_Missense_Mutation_p.Q100P|ZNF211_uc002qpp.2_Missense_Mutation_p.Q109P|ZNF211_uc002qpr.2_Missense_Mutation_p.Q160P|ZNF211_uc002qps.2_Missense_Mutation_p.Q161P|ZNF211_uc002qpt.2_Missense_Mutation_p.Q108P|ZNF211_uc010yhc.1_Missense_Mutation_p.Q108P|ZNF211_uc010yhd.1_Missense_Mutation_p.Q35P|ZNF211_uc010yhe.1_Missense_Mutation_p.Q87P	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	96	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	58152141	58152141	18358	19	A	C	C	7	7	ZNF211	C	4	4
ZNF211	10520	broad.mit.edu	37	19	58153536	58153536	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58153536G>T	uc002qpq.2	+	3	1862	c.1682G>T	c.(1681-1683)GGA>GTA	p.G561V	ZNF211_uc010yhb.1_Missense_Mutation_p.G565V|ZNF211_uc002qpp.2_Missense_Mutation_p.G574V|ZNF211_uc002qpr.2_Missense_Mutation_p.G625V|ZNF211_uc002qps.2_Missense_Mutation_p.G626V|ZNF211_uc002qpt.2_Missense_Mutation_p.G573V|ZNF211_uc010yhc.1_Missense_Mutation_p.G573V|ZNF211_uc010yhd.1_Missense_Mutation_p.G500V|ZNF211_uc010yhe.1_Missense_Mutation_p.G552V	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	561						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	58153536	58153536	18358	19	G	T	T	41	41	ZNF211	T	2	2
ZNF135	7694	broad.mit.edu	37	19	58579130	58579130	+	Silent	SNP	C	T	T	rs141591921		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58579130C>T	uc010yhq.1	+	5	1410	c.1314C>T	c.(1312-1314)ACC>ACT	p.T438T	ZNF135_uc002qre.2_Silent_p.T426T|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.T384T|ZNF135_uc002qrg.2_Silent_p.T396T|ZNF135_uc010yhr.1_Silent_p.T247T	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	438					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)														---	---	---	---	capture		Silent	SNP	58579130	58579130	18316	19	C	T	T	23	23	ZNF135	T	1	1
RNASEH1	246243	broad.mit.edu	37	2	3595592	3595592	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3595592C>T	uc002qxt.2	-	7	793	c.703G>A	c.(703-705)GGG>AGG	p.G235R	RNASEH1_uc002qxs.2_Missense_Mutation_p.G118R	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	235	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)														---	---	---	---	capture		Missense_Mutation	SNP	3595592	3595592	13888	2	C	T	T	24	24	RNASEH1	T	2	2
CMPK2	129607	broad.mit.edu	37	2	7001358	7001358	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7001358C>A	uc002qyo.2	-	3	1058	c.949G>T	c.(949-951)GAA>TAA	p.E317*	CMPK2_uc010yis.1_Nonsense_Mutation_p.E317*|CMPK2_uc010ewv.2_Nonsense_Mutation_p.E317*	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	UMP-CMP kinase 2 precursor	317					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Nonsense_Mutation	SNP	7001358	7001358	3719	2	C	A	A	31	31	CMPK2	A	5	1
APOB	338	broad.mit.edu	37	2	21247880	21247880	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21247880G>A	uc002red.2	-	16	2489	c.2361C>T	c.(2359-2361)GCC>GCT	p.A787A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	787					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)													---	---	---	---	capture		Silent	SNP	21247880	21247880	796	2	G	A	A	47	47	APOB	A	2	2
HEATR5B	54497	broad.mit.edu	37	2	37241161	37241161	+	Silent	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37241161T>A	uc002rpp.1	-	27	4203	c.4107A>T	c.(4105-4107)GTA>GTT	p.V1369V	HEATR5B_uc010ezy.1_5'UTR|HEATR5B_uc002rpq.3_5'UTR	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1369							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---	capture		Silent	SNP	37241161	37241161	7315	2	T	A	A	49	49	HEATR5B	A	4	4
HEATR5B	54497	broad.mit.edu	37	2	37265146	37265146	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37265146G>A	uc002rpp.1	-	21	3164	c.3068C>T	c.(3067-3069)ACA>ATA	p.T1023I		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1023							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---	capture		Missense_Mutation	SNP	37265146	37265146	7315	2	G	A	A	48	48	HEATR5B	A	2	2
THADA	63892	broad.mit.edu	37	2	43514126	43514126	+	Silent	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43514126A>G	uc002rsw.3	-	35	5437	c.5085T>C	c.(5083-5085)CCT>CCC	p.P1695P	THADA_uc010far.2_Silent_p.P890P|THADA_uc002rsx.3_Silent_p.P1695P|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1695							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)																---	---	---	---	capture		Silent	SNP	43514126	43514126	16368	2	A	G	G	15	15	THADA	G	4	4
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873855	48873855	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48873855C>T	uc010yol.1	+	5	2670	c.2623C>T	c.(2623-2625)CTT>TTT	p.L875F	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.L922F|GTF2A1L_uc002rws.1_Missense_Mutation_p.L218F|GTF2A1L_uc010yom.1_Missense_Mutation_p.L184F|GTF2A1L_uc002rwt.2_Missense_Mutation_p.L218F	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	875					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	48873855	48873855	15837	2	C	T	T	20	20	STON1-GTF2A1L	T	2	2
SMEK2	57223	broad.mit.edu	37	2	55786013	55786013	+	Silent	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55786013A>G	uc002rzc.2	-	16	2727	c.2352T>C	c.(2350-2352)AAT>AAC	p.N784N	SMEK2_uc002rzb.2_Silent_p.N699N|SMEK2_uc002rzd.2_Silent_p.N752N|SMEK2_uc002ryz.2_Silent_p.N211N|SMEK2_uc002rza.2_Silent_p.N568N	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	784						microtubule organizing center|nucleus	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---	capture		Silent	SNP	55786013	55786013	15292	2	A	G	G	8	8	SMEK2	G	4	4
BCL11A	53335	broad.mit.edu	37	2	60679756	60679756	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:60679756T>G	uc010ypj.1	-	4	2554	c.2326A>C	c.(2326-2328)ATG>CTG	p.M776L	BCL11A_uc002sab.2_Missense_Mutation_p.D759A|BCL11A_uc002sac.2_Missense_Mutation_p.M226L|BCL11A_uc010ypi.1_Missense_Mutation_p.D428A	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	Error:Variant_position_missing_in_Q9H165_after_alignment					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)					T	IGH@	B-CLL								---	---	---	---	capture		Missense_Mutation	SNP	60679756	60679756	1384	2	T	G	G	50	50	BCL11A	G	4	4
B3GNT2	10678	broad.mit.edu	37	2	62449632	62449632	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:62449632C>T	uc002sbs.2	+	2	515	c.277C>T	c.(277-279)CTG>TTG	p.L93L		NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal	93	Lumenal (Potential).					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)															---	---	---	---	capture		Silent	SNP	62449632	62449632	1278	2	C	T	T	32	32	B3GNT2	T	2	2
ZNF638	27332	broad.mit.edu	37	2	71653812	71653812	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71653812G>T	uc002shx.2	+	24	5132	c.4813G>T	c.(4813-4815)GGG>TGG	p.G1605W	ZNF638_uc002shy.2_Missense_Mutation_p.G1605W|ZNF638_uc002shz.2_Missense_Mutation_p.G1605W|ZNF638_uc002sia.2_Missense_Mutation_p.G1605W|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.G702W|ZNF638_uc002sid.2_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1605					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	71653812	71653812	18650	2	G	T	T	47	47	ZNF638	T	2	2
ITPRIPL1	150771	broad.mit.edu	37	2	96992653	96992653	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96992653C>T	uc002svx.2	+	3	619	c.284C>T	c.(283-285)CCG>CTG	p.P95L	ITPRIPL1_uc010yuk.1_Missense_Mutation_p.P87L|ITPRIPL1_uc002svy.2_Missense_Mutation_p.P103L|ITPRIPL1_uc010yul.1_Missense_Mutation_p.P87L	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	95	Extracellular (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	96992653	96992653	8228	2	C	T	T	23	23	ITPRIPL1	T	1	1
VWA3B	200403	broad.mit.edu	37	2	98844703	98844703	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98844703G>A	uc002syo.2	+	15	2322	c.2058G>A	c.(2056-2058)CAG>CAA	p.Q686Q	VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Silent_p.Q205Q|VWA3B_uc002sym.2_Silent_p.Q686Q|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.Q343Q|VWA3B_uc002syp.1_Silent_p.Q78Q|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Silent_p.Q3Q	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	686										ovary(3)|large_intestine(2)|skin(1)	6																		---	---	---	---	capture		Silent	SNP	98844703	98844703	17810	2	G	A	A	35	35	VWA3B	A	2	2
MYO7B	4648	broad.mit.edu	37	2	128346007	128346007	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128346007C>A	uc002top.2	+	15	1784	c.1731C>A	c.(1729-1731)ATC>ATA	p.I577I		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	577	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)														---	---	---	---	capture		Silent	SNP	128346007	128346007	10478	2	C	A	A	30	30	MYO7B	A	2	2
LRP1B	53353	broad.mit.edu	37	2	141250260	141250260	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141250260C>A	uc002tvj.1	-	57	10009	c.9037G>T	c.(9037-9039)GAA>TAA	p.E3013*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3013	Extracellular (Potential).				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)			---	---	---	---	capture		Nonsense_Mutation	SNP	141250260	141250260	9328	2	C	A	A	29	29	LRP1B	A	5	2
MBD5	55777	broad.mit.edu	37	2	149226852	149226852	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149226852G>A	uc002twm.3	+	9	2328	c.1340G>A	c.(1339-1341)GGG>GAG	p.G447E	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.G447E|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	447						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---	capture		Missense_Mutation	SNP	149226852	149226852	9735	2	G	A	A	43	43	MBD5	A	2	2
TANK	10010	broad.mit.edu	37	2	162036186	162036186	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162036186A>G	uc002ubr.1	+	2	171	c.13A>G	c.(13-15)ATT>GTT	p.I5V	TANK_uc002ubq.1_Missense_Mutation_p.I5V|TANK_uc002ubs.2_Missense_Mutation_p.I5V	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	5						cytosol	metal ion binding|protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	162036186	162036186	16067	2	A	G	G	8	8	TANK	G	4	4
XIRP2	129446	broad.mit.edu	37	2	168105999	168105999	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168105999C>A	uc002udx.2	+	8	8115	c.8097C>A	c.(8095-8097)CCC>CCA	p.P2699P	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P2524P|XIRP2_uc010fpq.2_Silent_p.P2477P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.P45P	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2524					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---	capture		Silent	SNP	168105999	168105999	18011	2	C	A	A	22	22	XIRP2	A	2	2
TTN	7273	broad.mit.edu	37	2	179425815	179425815	+	Silent	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179425815A>T	uc010zfg.1	-	275	77564	c.77340T>A	c.(77338-77340)GTT>GTA	p.V25780V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V19475V|TTN_uc010zfi.1_Silent_p.V19408V|TTN_uc010zfj.1_Silent_p.V19283V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26707							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)															---	---	---	---	capture		Silent	SNP	179425815	179425815	17290	2	A	T	T	13	13	TTN	T	4	4
TTN	7273	broad.mit.edu	37	2	179437674	179437674	+	Silent	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179437674A>G	uc010zfg.1	-	275	65705	c.65481T>C	c.(65479-65481)TAT>TAC	p.Y21827Y	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y15522Y|TTN_uc010zfi.1_Silent_p.Y15455Y|TTN_uc010zfj.1_Silent_p.Y15330Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22754							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)															---	---	---	---	capture		Silent	SNP	179437674	179437674	17290	2	A	G	G	16	16	TTN	G	4	4
TTN	7273	broad.mit.edu	37	2	179556764	179556764	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179556764C>A	uc010zfg.1	-	118	28233	c.28009G>T	c.(28009-28011)GAA>TAA	p.E9337*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E5998*|TTN_uc010fre.1_Nonsense_Mutation_p.E448*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10264							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)															---	---	---	---	capture		Nonsense_Mutation	SNP	179556764	179556764	17290	2	C	A	A	30	30	TTN	A	5	2
TTN	7273	broad.mit.edu	37	2	179588731	179588731	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179588731G>T	uc010zfg.1	-	70	17747	c.17523C>A	c.(17521-17523)GTC>GTA	p.V5841V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V2502V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6768							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)															---	---	---	---	capture		Silent	SNP	179588731	179588731	17290	2	G	T	T	45	45	TTN	T	2	2
MSTN	2660	broad.mit.edu	37	2	190927155	190927155	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190927155A>C	uc002urp.2	-	1	301	c.168T>G	c.(166-168)ATT>ATG	p.I56M		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	56					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)															---	---	---	---	capture		Missense_Mutation	SNP	190927155	190927155	10286	2	A	C	C	13	13	MSTN	C	4	4
DNAH7	56171	broad.mit.edu	37	2	196825422	196825422	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196825422G>A	uc002utj.3	-	18	2554	c.2453C>T	c.(2452-2454)CCA>CTA	p.P818L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	818	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---	capture		Missense_Mutation	SNP	196825422	196825422	4789	2	G	A	A	47	47	DNAH7	A	2	2
CCDC150	284992	broad.mit.edu	37	2	197521505	197521505	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197521505A>T	uc002utp.1	+	3	460	c.325A>T	c.(325-327)AGC>TGC	p.S109C	CCDC150_uc002uto.1_Missense_Mutation_p.S109C|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	109	Potential.										0																		---	---	---	---	capture		Missense_Mutation	SNP	197521505	197521505	2905	2	A	T	T	3	3	CCDC150	T	4	4
CASP10	843	broad.mit.edu	37	2	202072894	202072894	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202072894C>A	uc002uxl.1	+	8	1328	c.910C>A	c.(910-912)CAT>AAT	p.H304N	CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Missense_Mutation_p.H304N|CASP10_uc002uxk.1_Missense_Mutation_p.H261N|CASP10_uc010fta.1_Intron|CASP10_uc002uxm.1_Missense_Mutation_p.H261N|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	304					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	202072894	202072894	2788	2	C	A	A	21	21	CASP10	A	2	2
CPS1	1373	broad.mit.edu	37	2	211541783	211541783	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211541783A>G	uc002vee.3	+	37	4459	c.4327A>G	c.(4327-4329)ACT>GCT	p.T1443A	CPS1_uc010fur.2_Missense_Mutation_p.T1449A|CPS1_uc010fus.2_Missense_Mutation_p.T992A	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1443					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)														---	---	---	---	capture		Missense_Mutation	SNP	211541783	211541783	3961	2	A	G	G	6	6	CPS1	G	4	4
MREG	55686	broad.mit.edu	37	2	216809589	216809589	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216809589G>T	uc002vfo.2	-	5	938	c.642C>A	c.(640-642)CCC>CCA	p.P214P	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	214						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)														---	---	---	---	capture		Silent	SNP	216809589	216809589	10152	2	G	T	T	35	35	MREG	T	2	2
KIF1A	547	broad.mit.edu	37	2	241656788	241656788	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241656788C>T	uc002vzy.2	-	47	5212	c.5066G>A	c.(5065-5067)CGG>CAG	p.R1689Q	KIF1A_uc010fzk.2_Missense_Mutation_p.R1790Q|KIF1A_uc002vzw.2_Missense_Mutation_p.R350Q|KIF1A_uc002vzx.2_Missense_Mutation_p.R416Q	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1689					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)														---	---	---	---	capture		Missense_Mutation	SNP	241656788	241656788	8594	2	C	T	T	23	23	KIF1A	T	1	1
ANGPT4	51378	broad.mit.edu	37	20	896599	896599	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:896599C>G	uc002wei.2	-	1	362	c.259G>C	c.(259-261)GTG>CTG	p.V87L	ANGPT4_uc010zpn.1_Missense_Mutation_p.V81L	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	angiopoietin 4 precursor	87	Potential.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	896599	896599	615	20	C	G	G	18	18	ANGPT4	G	3	3
SIRPB1	10326	broad.mit.edu	37	20	1552435	1552435	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1552435C>A	uc010gai.2	-	3	781	c.682G>T	c.(682-684)GAG>TAG	p.E228*	SIRPB1_uc002wfk.3_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	228	Ig-like C1-type 1.|Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	1552435	1552435	14828	20	C	A	A	31	31	SIRPB1	A	5	1
SLC4A11	83959	broad.mit.edu	37	20	3214818	3214818	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3214818C>A	uc002wig.2	-	4	530	c.482G>T	c.(481-483)AGG>ATG	p.R161M	SLC4A11_uc010zqe.1_Missense_Mutation_p.R188M|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.R145M	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	161	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	3214818	3214818	15149	20	C	A	A	24	24	SLC4A11	A	2	2
ADAM33	80332	broad.mit.edu	37	20	3652789	3652789	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3652789C>G	uc002wit.2	-	14	1676	c.1589G>C	c.(1588-1590)TGG>TCG	p.W530S	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.W530S|ADAM33_uc002wis.2_Missense_Mutation_p.W52S|ADAM33_uc002wiu.2_Missense_Mutation_p.W530S|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	530	Extracellular (Potential).|Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	3652789	3652789	251	20	C	G	G	21	21	ADAM33	G	3	3
CHGB	1114	broad.mit.edu	37	20	5904410	5904410	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5904410C>A	uc002wmg.2	+	4	1926	c.1620C>A	c.(1618-1620)GAC>GAA	p.D540E	CHGB_uc010zqz.1_Missense_Mutation_p.D223E	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	540						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	5904410	5904410	3473	20	C	A	A	17	17	CHGB	A	2	2
PLCB1	23236	broad.mit.edu	37	20	8862385	8862385	+	Silent	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:8862385T>C	uc002wnb.2	+	32	3543	c.3540T>C	c.(3538-3540)GGT>GGC	p.G1180G	PLCB1_uc002wna.2_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	1180					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12																		---	---	---	---	capture		Silent	SNP	8862385	8862385	12453	20	T	C	C	60	60	PLCB1	C	4	4
PLCB4	5332	broad.mit.edu	37	20	9368183	9368183	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:9368183T>A	uc002wnf.2	+	14	1274	c.1138T>A	c.(1138-1140)TGT>AGT	p.C380S	PLCB4_uc010gbw.1_Missense_Mutation_p.C380S|PLCB4_uc010gbx.2_Missense_Mutation_p.C380S|PLCB4_uc002wne.2_Missense_Mutation_p.C380S|PLCB4_uc002wnh.2_Missense_Mutation_p.C227S	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	380	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15																		---	---	---	---	capture		Missense_Mutation	SNP	9368183	9368183	12456	20	T	A	A	59	59	PLCB4	A	4	4
RALGAPA2	57186	broad.mit.edu	37	20	20486105	20486105	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20486105C>A	uc002wrz.2	-	34	5145	c.5002G>T	c.(5002-5004)GAA>TAA	p.E1668*	RALGAPA2_uc010gcx.2_Nonsense_Mutation_p.E1372*|RALGAPA2_uc010zsg.1_Nonsense_Mutation_p.E1116*|RALGAPA2_uc002wsa.1_Nonsense_Mutation_p.E440*	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1668	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	20486105	20486105	13474	20	C	A	A	29	29	RALGAPA2	A	5	2
DNMT3B	1789	broad.mit.edu	37	20	31380550	31380550	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31380550G>A	uc002wyc.2	+	9	1361	c.1040G>A	c.(1039-1041)GGC>GAC	p.G347D	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Missense_Mutation_p.G347D|DNMT3B_uc002wye.2_Missense_Mutation_p.G347D|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.G305D|DNMT3B_uc010zua.1_Missense_Mutation_p.G271D|DNMT3B_uc002wyf.2_Missense_Mutation_p.G359D|DNMT3B_uc002wyg.2_Missense_Mutation_p.G46D	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	347					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	31380550	31380550	4860	20	G	A	A	42	42	DNMT3B	A	2	2
SLC32A1	140679	broad.mit.edu	37	20	37356487	37356487	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37356487G>T	uc002xjc.2	+	2	1046	c.783G>T	c.(781-783)AAG>AAT	p.K261N		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	261	Helical; (Potential).			K -> R (in Ref. 4; AAH36458).	neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)													---	---	---	---	capture		Missense_Mutation	SNP	37356487	37356487	15062	20	G	T	T	35	35	SLC32A1	T	2	2
DHX35	60625	broad.mit.edu	37	20	37657096	37657096	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37657096G>A	uc002xjh.2	+	19	1848	c.1837G>A	c.(1837-1839)GGC>AGC	p.G613S	DHX35_uc010zwa.1_Missense_Mutation_p.G458S|DHX35_uc010zwb.1_Missense_Mutation_p.G458S|DHX35_uc010zwc.1_Missense_Mutation_p.G582S	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	613						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Missense_Mutation	SNP	37657096	37657096	4687	20	G	A	A	39	39	DHX35	A	1	1
SEMG1	6406	broad.mit.edu	37	20	43836175	43836175	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43836175C>T	uc002xni.2	+	2	294	c.237C>T	c.(235-237)TCC>TCT	p.S79S	SEMG1_uc002xnj.2_Silent_p.S79S|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.S79S	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	79					insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Silent	SNP	43836175	43836175	14530	20	C	T	T	22	22	SEMG1	T	2	2
ZNF217	7764	broad.mit.edu	37	20	52193465	52193465	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52193465T>A	uc002xwq.3	-	3	2109	c.1838A>T	c.(1837-1839)AAA>ATA	p.K613I	ZNF217_uc010gij.1_Missense_Mutation_p.K605I	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	613					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	52193465	52193465	18363	20	T	A	A	64	64	ZNF217	A	4	4
APCDD1L	164284	broad.mit.edu	37	20	57036381	57036381	+	Missense_Mutation	SNP	C	A	A	rs145530588	byFrequency	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57036381C>A	uc002xze.1	-	4	1157	c.971G>T	c.(970-972)CGG>CTG	p.R324L	APCDD1L_uc010zzp.1_Missense_Mutation_p.R335L	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	324						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)															---	---	---	---	capture		Missense_Mutation	SNP	57036381	57036381	776	20	C	A	A	23	23	APCDD1L	A	1	1
PHACTR3	116154	broad.mit.edu	37	20	58318296	58318296	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58318296A>G	uc002yau.2	+	2	720	c.253A>G	c.(253-255)AAC>GAC	p.N85D	PHACTR3_uc002yat.2_Missense_Mutation_p.N82D|PHACTR3_uc010zzw.1_Missense_Mutation_p.N44D|PHACTR3_uc002yav.2_Missense_Mutation_p.N44D|PHACTR3_uc002yaw.2_Missense_Mutation_p.N44D|PHACTR3_uc002yax.2_Missense_Mutation_p.N44D	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	85						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)															---	---	---	---	capture		Missense_Mutation	SNP	58318296	58318296	12234	20	A	G	G	1	1	PHACTR3	G	4	4
KRTAP13-2	337959	broad.mit.edu	37	21	31744283	31744283	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31744283G>A	uc002ynz.3	-	1	275	c.249C>T	c.(247-249)CCC>CCT	p.P83P		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	83	4.|5 X 10 AA approximate repeats.					intermediate filament					0																		---	---	---	---	capture		Silent	SNP	31744283	31744283	8838	21	G	A	A	47	47	KRTAP13-2	A	2	2
KRTAP13-3	337960	broad.mit.edu	37	21	31797811	31797811	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31797811C>G	uc002yob.1	-	1	420	c.420G>C	c.(418-420)CAG>CAC	p.Q140H		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	140						intermediate filament				ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	31797811	31797811	8839	21	C	G	G	32	32	KRTAP13-3	G	3	3
PWP2	5822	broad.mit.edu	37	21	45548185	45548185	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45548185T>C	uc002zeb.2	+	19	2507	c.2417T>C	c.(2416-2418)TTA>TCA	p.L806S		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	806						cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)														---	---	---	---	capture		Missense_Mutation	SNP	45548185	45548185	13302	21	T	C	C	61	61	PWP2	C	4	4
TRPM2	7226	broad.mit.edu	37	21	45815337	45815337	+	Nonsense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45815337C>G	uc002zet.1	+	13	2048	c.1835C>G	c.(1834-1836)TCA>TGA	p.S612*	TRPM2_uc002zeu.1_Nonsense_Mutation_p.S612*|TRPM2_uc002zew.1_Nonsense_Mutation_p.S612*|TRPM2_uc010gpt.1_Nonsense_Mutation_p.S612*|TRPM2_uc002zex.1_Nonsense_Mutation_p.S398*|TRPM2_uc002zey.1_Nonsense_Mutation_p.S125*	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	612	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	45815337	45815337	17137	21	C	G	G	29	29	TRPM2	G	5	3
ITGB2	3689	broad.mit.edu	37	21	46310005	46310005	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46310005C>A	uc002zgd.2	-	11	1589	c.1545G>T	c.(1543-1545)GGG>GGT	p.G515G	ITGB2_uc002zge.2_Silent_p.G515G|ITGB2_uc002zgf.3_Silent_p.G515G|ITGB2_uc011afl.1_Silent_p.G437G|ITGB2_uc010gpw.2_Silent_p.G458G|ITGB2_uc002zgg.2_Silent_p.G515G	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	515	II.|Extracellular (Potential).|Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)													---	---	---	---	capture		Silent	SNP	46310005	46310005	8198	21	C	A	A	26	26	ITGB2	A	2	2
CECR2	27443	broad.mit.edu	37	22	18022042	18022042	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18022042G>T	uc010gqw.1	+	15	2270	c.2144G>T	c.(2143-2145)CGG>CTG	p.R715L	CECR2_uc010gqv.1_Missense_Mutation_p.R574L|CECR2_uc002zml.2_Missense_Mutation_p.R574L	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	757					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)														---	---	---	---	capture		Missense_Mutation	SNP	18022042	18022042	3339	22	G	T	T	39	39	CECR2	T	1	1
CSF2RB	1439	broad.mit.edu	37	22	37322057	37322057	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37322057C>T	uc003aqa.3	+	4	446	c.229C>T	c.(229-231)CTC>TTC	p.L77F	CSF2RB_uc003aqc.3_Missense_Mutation_p.L77F	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	77	Extracellular (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)													---	---	---	---	capture		Missense_Mutation	SNP	37322057	37322057	4076	22	C	T	T	24	24	CSF2RB	T	2	2
POLR3H	171568	broad.mit.edu	37	22	41926859	41926859	+	Silent	SNP	G	A	A	rs140901049	byFrequency	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41926859G>A	uc003baf.2	-	6	453	c.393C>T	c.(391-393)TAC>TAT	p.Y131Y	POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Silent_p.Y131Y|POLR3H_uc003bai.2_Silent_p.Y102Y	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	131					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	41926859	41926859	12664	22	G	A	A	40	40	POLR3H	A	1	1
ITPR1	3708	broad.mit.edu	37	3	4683776	4683776	+	Splice_Site	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4683776G>T	uc003bqa.2	+	7	715	c.367_splice	c.e7-1	p.L123_splice	ITPR1_uc010hbz.2_Splice_Site_p.L123_splice|ITPR1_uc010hca.1_Splice_Site_p.L123_splice|ITPR1_uc011asu.1_Splice_Site_p.L123_splice|ITPR1_uc010hcb.1_Splice_Site_p.L123_splice	NM_001099952	NP_001093422			inositol 1,4,5-triphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---	capture		Splice_Site	SNP	4683776	4683776	8224	3	G	T	T	34	34	ITPR1	T	5	2
SLC6A6	6533	broad.mit.edu	37	3	14489188	14489188	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14489188A>G	uc010heg.2	+	12	754	c.463A>G	c.(463-465)AAG>GAG	p.K155E	SLC6A6_uc003byp.2_Missense_Mutation_p.K155E|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Missense_Mutation_p.K155E|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	155	Extracellular (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	14489188	14489188	15185	3	A	G	G	9	9	SLC6A6	G	4	4
C3orf19	51244	broad.mit.edu	37	3	14695956	14695956	+	Silent	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14695956C>G	uc003byw.2	+	2	157	c.66C>G	c.(64-66)CTC>CTG	p.L22L	C3orf19_uc010hei.1_Silent_p.L22L	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	22											0																		---	---	---	---	capture		Silent	SNP	14695956	14695956	2305	3	C	G	G	32	32	C3orf19	G	3	3
AZI2	64343	broad.mit.edu	37	3	28373873	28373873	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:28373873G>C	uc003ceb.2	-	6	1166	c.634C>G	c.(634-636)CTA>GTA	p.L212V	AZI2_uc003cec.2_Missense_Mutation_p.L100V|AZI2_uc003ced.2_Missense_Mutation_p.L212V|AZI2_uc003cee.3_Missense_Mutation_p.L212V|AZI2_uc003ceg.2_Missense_Mutation_p.L212V|AZI2_uc011axd.1_Missense_Mutation_p.L212V|AZI2_uc003cef.2_Missense_Mutation_p.L212V	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2 isoform a	212	Interaction with TBK1.					mitochondrion|plasma membrane				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	28373873	28373873	1262	3	G	C	C	36	36	AZI2	C	3	3
TGFBR2	7048	broad.mit.edu	37	3	30713401	30713401	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:30713401G>A	uc003ceo.2	+	4	1108	c.726G>A	c.(724-726)CTG>CTA	p.L242L	TGFBR2_uc003cen.2_Silent_p.L267L	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	242	Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26																		---	---	---	---	capture		Silent	SNP	30713401	30713401	16350	3	G	A	A	46	46	TGFBR2	A	2	2
SUSD5	26032	broad.mit.edu	37	3	33195275	33195275	+	Silent	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33195275T>C	uc003cfo.1	-	5	1267	c.849A>G	c.(847-849)TCA>TCG	p.S283S		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	283	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	33195275	33195275	15931	3	T	C	C	59	59	SUSD5	C	4	4
ARPP21	10777	broad.mit.edu	37	3	35730842	35730842	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:35730842C>A	uc003cgb.2	+	7	714	c.450C>A	c.(448-450)CAC>CAA	p.H150Q	ARPP21_uc003cga.2_Missense_Mutation_p.H150Q|ARPP21_uc011axy.1_Missense_Mutation_p.H150Q|ARPP21_uc003cgf.2_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	150						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	35730842	35730842	996	3	C	A	A	19	19	ARPP21	A	1	1
ARPP21	10777	broad.mit.edu	37	3	35770811	35770811	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:35770811C>T	uc003cgb.2	+	15	1506	c.1242C>T	c.(1240-1242)AGC>AGT	p.S414S	ARPP21_uc003cga.2_Silent_p.S360S|ARPP21_uc011axy.1_Silent_p.S380S|ARPP21_uc003cgf.2_Silent_p.S215S|ARPP21_uc003cgg.2_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	414	Ser-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	35770811	35770811	996	3	C	T	T	25	25	ARPP21	T	2	2
LRIG1	26018	broad.mit.edu	37	3	66444471	66444471	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66444471G>T	uc003dmx.2	-	12	1475	c.1461C>A	c.(1459-1461)TTC>TTA	p.F487L	LRIG1_uc011bfu.1_Missense_Mutation_p.F107L|LRIG1_uc003dmw.2_Missense_Mutation_p.F153L|LRIG1_uc010hnz.2_Missense_Mutation_p.F203L|LRIG1_uc010hoa.2_Missense_Mutation_p.F511L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	487	Extracellular (Potential).|LRRCT.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---	capture		Missense_Mutation	SNP	66444471	66444471	9317	3	G	T	T	37	37	LRIG1	T	1	1
PDZRN3	23024	broad.mit.edu	37	3	73433401	73433401	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73433401C>A	uc003dpl.1	-	10	2412	c.2316G>T	c.(2314-2316)GAG>GAT	p.E772D	PDZRN3_uc011bgh.1_Missense_Mutation_p.E429D|PDZRN3_uc010hoe.1_Missense_Mutation_p.E470D|PDZRN3_uc011bgf.1_Missense_Mutation_p.E489D|PDZRN3_uc011bgg.1_Missense_Mutation_p.E492D	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	772							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)														---	---	---	---	capture		Missense_Mutation	SNP	73433401	73433401	12130	3	C	A	A	32	32	PDZRN3	A	2	2
CNTN3	5067	broad.mit.edu	37	3	74413749	74413749	+	Splice_Site	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74413749T>A	uc003dpm.1	-	9	1164	c.1084_splice	c.e9-1	p.E362_splice		NM_020872	NP_065923			contactin 3 precursor						cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---	capture		Splice_Site	SNP	74413749	74413749	3780	3	T	A	A	53	53	CNTN3	A	5	4
MYH15	22989	broad.mit.edu	37	3	108147539	108147539	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108147539G>T	uc003dxa.1	-	28	3619	c.3562C>A	c.(3562-3564)CGA>AGA	p.R1188R		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1188	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7																		---	---	---	---	capture		Silent	SNP	108147539	108147539	10429	3	G	T	T	39	39	MYH15	T	1	1
DRD3	1814	broad.mit.edu	37	3	113850162	113850162	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113850162T>C	uc003ebd.2	-	7	1232	c.809A>G	c.(808-810)CAA>CGA	p.Q270R	DRD3_uc010hqn.1_Missense_Mutation_p.Q270R|DRD3_uc003ebb.1_Missense_Mutation_p.Q270R|DRD3_uc003ebc.1_Missense_Mutation_p.Q270R	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	270	Cytoplasmic.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)													---	---	---	---	capture		Missense_Mutation	SNP	113850162	113850162	4942	3	T	C	C	63	63	DRD3	C	4	4
GOLGB1	2804	broad.mit.edu	37	3	121416536	121416536	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121416536C>G	uc003eei.3	-	13	2945	c.2819G>C	c.(2818-2820)AGA>ACA	p.R940T	GOLGB1_uc010hrc.2_Missense_Mutation_p.R945T|GOLGB1_uc003eej.3_Missense_Mutation_p.R906T|GOLGB1_uc011bjm.1_Missense_Mutation_p.R826T|GOLGB1_uc010hrd.1_Missense_Mutation_p.R904T	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	940	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---	capture		Missense_Mutation	SNP	121416536	121416536	6838	3	C	G	G	32	32	GOLGB1	G	3	3
CASR	846	broad.mit.edu	37	3	122003472	122003472	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122003472C>G	uc003eev.3	+	7	3043	c.2671C>G	c.(2671-2673)CGC>GGC	p.R891G	CASR_uc003eew.3_Missense_Mutation_p.R901G	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	891	Cytoplasmic (Potential).|Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)													---	---	---	---	capture		Missense_Mutation	SNP	122003472	122003472	2801	3	C	G	G	23	23	CASR	G	3	3
ALDH1L1	10840	broad.mit.edu	37	3	125831645	125831645	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125831645C>G	uc003eim.1	-	19	2351	c.2161G>C	c.(2161-2163)GAT>CAT	p.D721H	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.D620H|ALDH1L1_uc003ein.1_Missense_Mutation_p.D256H	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	721	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)													---	---	---	---	capture		Missense_Mutation	SNP	125831645	125831645	497	3	C	G	G	29	29	ALDH1L1	G	3	3
PLXNA1	5361	broad.mit.edu	37	3	126748891	126748891	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126748891G>T	uc003ejg.2	+	27	4980	c.4976G>T	c.(4975-4977)CGG>CTG	p.R1659L	PLXNA1_uc003ejh.2_Missense_Mutation_p.R327L	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1682	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---	capture		Missense_Mutation	SNP	126748891	126748891	12545	3	G	T	T	39	39	PLXNA1	T	1	1
DZIP1L	199221	broad.mit.edu	37	3	137787043	137787043	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137787043G>T	uc003erq.2	-	13	2145	c.1782C>A	c.(1780-1782)CCC>CCA	p.P594P		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	594						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Silent	SNP	137787043	137787043	5050	3	G	T	T	39	39	DZIP1L	T	1	1
DBR1	51163	broad.mit.edu	37	3	137881387	137881387	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137881387C>A	uc003erv.2	-	8	1115	c.979G>T	c.(979-981)GTA>TTA	p.V327L	DBR1_uc003eru.2_Missense_Mutation_p.V276L|DBR1_uc003ert.2_Missense_Mutation_p.V95L	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	327						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	137881387	137881387	4428	3	C	A	A	20	20	DBR1	A	2	2
PLSCR5	389158	broad.mit.edu	37	3	146309615	146309615	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:146309615C>A	uc003ewb.2	-	5	1511	c.507G>T	c.(505-507)TGG>TGT	p.W169C	PLSCR5_uc010hvb.2_Missense_Mutation_p.W157C|PLSCR5_uc010hvc.2_Missense_Mutation_p.W169C	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	169											0																		---	---	---	---	capture		Missense_Mutation	SNP	146309615	146309615	12539	3	C	A	A	22	22	PLSCR5	A	2	2
MED12L	116931	broad.mit.edu	37	3	150874031	150874031	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150874031G>T	uc003eyp.2	+	5	678	c.640G>T	c.(640-642)GAT>TAT	p.D214Y	MED12L_uc011bnz.1_Missense_Mutation_p.D214Y|MED12L_uc003eym.1_Missense_Mutation_p.D214Y|MED12L_uc003eyn.2_Missense_Mutation_p.D214Y|MED12L_uc003eyo.2_Missense_Mutation_p.D214Y	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	214					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Missense_Mutation	SNP	150874031	150874031	9818	3	G	T	T	37	37	MED12L	T	1	1
SHOX2	6474	broad.mit.edu	37	3	157820671	157820671	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157820671G>A	uc003fbr.2	-	2	490	c.351C>T	c.(349-351)TCC>TCT	p.S117S	SHOX2_uc003fbs.2_Silent_p.S141S|SHOX2_uc010hvw.2_Silent_p.S117S	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	117					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---	capture		Silent	SNP	157820671	157820671	14784	3	G	A	A	43	43	SHOX2	A	2	2
YEATS2	55689	broad.mit.edu	37	3	183454574	183454574	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183454574A>T	uc003fly.2	+	8	1076	c.881A>T	c.(880-882)AAG>ATG	p.K294M		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	294	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183454574	183454574	18055	3	A	T	T	3	3	YEATS2	T	4	4
EPHB3	2049	broad.mit.edu	37	3	184289127	184289127	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184289127G>T	uc003foz.2	+	2	577	c.140G>T	c.(139-141)TGG>TTG	p.W47L		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	47	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)															---	---	---	---	capture		Missense_Mutation	SNP	184289127	184289127	5369	3	G	T	T	47	47	EPHB3	T	2	2
TPRG1	285386	broad.mit.edu	37	3	188956624	188956624	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:188956624G>T	uc003frv.1	+	9	1632	c.405G>T	c.(403-405)CTG>CTT	p.L135L	TPRG1_uc003frw.1_Silent_p.L135L	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	135											0	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)														---	---	---	---	capture		Silent	SNP	188956624	188956624	16962	3	G	T	T	46	46	TPRG1	T	2	2
CLDN16	10686	broad.mit.edu	37	3	190126254	190126254	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190126254G>C	uc003fsi.2	+	4	812	c.744G>C	c.(742-744)TTG>TTC	p.L248F	CLDN16_uc010hze.2_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	248	Helical; (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)														---	---	---	---	capture		Missense_Mutation	SNP	190126254	190126254	3613	3	G	C	C	47	47	CLDN16	C	3	3
ATP13A4	84239	broad.mit.edu	37	3	193130151	193130151	+	Silent	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193130151T>A	uc003ftd.2	-	27	3132	c.3024A>T	c.(3022-3024)ACA>ACT	p.T1008T	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1008	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---	capture		Silent	SNP	193130151	193130151	1145	3	T	A	A	55	55	ATP13A4	A	4	4
CPN2	1370	broad.mit.edu	37	3	194062580	194062580	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194062580G>A	uc003fts.2	-	2	942	c.852C>T	c.(850-852)CTC>CTT	p.L284L		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	284	LRR 8.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)														---	---	---	---	capture		Silent	SNP	194062580	194062580	3948	3	G	A	A	33	33	CPN2	A	2	2
IQCG	84223	broad.mit.edu	37	3	197670685	197670685	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197670685C>A	uc003fyo.2	-	3	392	c.246G>T	c.(244-246)ATG>ATT	p.M82I	IQCG_uc003fyp.2_Missense_Mutation_p.M82I|IQCG_uc003fyq.3_Missense_Mutation_p.M82I	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	82											0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)														---	---	---	---	capture		Missense_Mutation	SNP	197670685	197670685	8113	3	C	A	A	25	25	IQCG	A	2	2
ZNF595	152687	broad.mit.edu	37	4	86295	86295	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86295G>C	uc003fzv.1	+	6	1057	c.901G>C	c.(901-903)GAA>CAA	p.E301Q	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.E69Q|ZNF595_uc011but.1_Missense_Mutation_p.E69Q	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	301					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)														---	---	---	---	capture		Missense_Mutation	SNP	86295	86295	18620	4	G	C	C	45	45	ZNF595	C	3	3
CTBP1	1487	broad.mit.edu	37	4	1206732	1206732	+	Missense_Mutation	SNP	C	A	A	rs7687296	byFrequency	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1206732C>A	uc003gcv.1	-	8	1273	c.1108G>T	c.(1108-1110)GTG>TTG	p.V370L	uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.V351L|CTBP1_uc003gcu.1_Missense_Mutation_p.V359L|CTBP1_uc003gcw.2_Missense_Mutation_p.V44L	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	370					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)														---	---	---	---	capture		Missense_Mutation	SNP	1206732	1206732	4156	4	C	A	A	19	19	CTBP1	A	1	1
SLIT2	9353	broad.mit.edu	37	4	20618590	20618590	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20618590C>A	uc003gpr.1	+	35	4109	c.3905C>A	c.(3904-3906)ACC>AAC	p.T1302N	SLIT2_uc003gps.1_Missense_Mutation_p.T1294N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1302	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---	capture		Missense_Mutation	SNP	20618590	20618590	15238	4	C	A	A	18	18	SLIT2	A	2	2
N4BP2	55728	broad.mit.edu	37	4	40123482	40123482	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40123482C>T	uc003guy.3	+	9	4089	c.3751C>T	c.(3751-3753)CCA>TCA	p.P1251S	N4BP2_uc010ifq.2_Missense_Mutation_p.P1171S|N4BP2_uc010ifr.2_Missense_Mutation_p.P1171S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1251						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	40123482	40123482	10505	4	C	T	T	30	30	N4BP2	T	2	2
ATP10D	57205	broad.mit.edu	37	4	47514816	47514816	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47514816G>C	uc003gxk.1	+	2	423	c.259G>C	c.(259-261)GTG>CTG	p.V87L	ATP10D_uc003gxj.3_Missense_Mutation_p.V87L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	87	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	47514816	47514816	1137	4	G	C	C	48	48	ATP10D	C	3	3
CORIN	10699	broad.mit.edu	37	4	47682236	47682236	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47682236C>G	uc003gxm.2	-	8	1147	c.1054G>C	c.(1054-1056)GAC>CAC	p.D352H	CORIN_uc011bzf.1_Missense_Mutation_p.D213H|CORIN_uc011bzg.1_Missense_Mutation_p.D285H|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	352	Extracellular (Potential).|LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47682236	47682236	3890	4	C	G	G	30	30	CORIN	G	3	3
EPHA5	2044	broad.mit.edu	37	4	66231739	66231739	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66231739T>C	uc003hcy.2	-	11	2154	c.1961A>G	c.(1960-1962)CAT>CGT	p.H654R	EPHA5_uc003hcx.2_Missense_Mutation_p.H586R|EPHA5_uc003hcz.2_Missense_Mutation_p.H632R|EPHA5_uc011cah.1_Missense_Mutation_p.H655R|EPHA5_uc011cai.1_Missense_Mutation_p.H633R|EPHA5_uc003hda.2_Missense_Mutation_p.H655R	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	654	Cytoplasmic (Potential).				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)			---	---	---	---	capture		Missense_Mutation	SNP	66231739	66231739	5363	4	T	C	C	51	51	EPHA5	C	4	4
UGT2A3	79799	broad.mit.edu	37	4	69816854	69816854	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69816854C>G	uc003hef.2	-	1	656	c.625G>C	c.(625-627)GTA>CTA	p.V209L	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	209	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	69816854	69816854	17513	4	C	G	G	20	20	UGT2A3	G	3	3
MUC7	4589	broad.mit.edu	37	4	71347178	71347178	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71347178C>A	uc011cat.1	+	4	1005	c.717C>A	c.(715-717)CCC>CCA	p.P239P	MUC7_uc011cau.1_Silent_p.P239P|MUC7_uc003hfj.2_Silent_p.P239P|uc011cav.1_Intron	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	239	Thr-rich.|4.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)															---	---	---	---	capture		Silent	SNP	71347178	71347178	10375	4	C	A	A	21	21	MUC7	A	2	2
ENAM	10117	broad.mit.edu	37	4	71509397	71509397	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71509397G>A	uc011caw.1	+	9	2535	c.2254G>A	c.(2254-2256)GCT>ACT	p.A752T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	752					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	71509397	71509397	5305	4	G	A	A	38	38	ENAM	A	1	1
RASGEF1B	153020	broad.mit.edu	37	4	82377866	82377866	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82377866C>A	uc003hmi.1	-	4	521	c.377G>T	c.(376-378)CGG>CTG	p.R126L	RASGEF1B_uc003hmj.1_Missense_Mutation_p.R126L|RASGEF1B_uc010ijq.1_Missense_Mutation_p.R85L|RASGEF1B_uc003hmk.2_Missense_Mutation_p.R126L	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	126	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	82377866	82377866	13531	4	C	A	A	23	23	RASGEF1B	A	1	1
C4orf21	55345	broad.mit.edu	37	4	113462282	113462282	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113462282G>A	uc003iau.2	-	25	5952	c.5741C>T	c.(5740-5742)ACC>ATC	p.T1914I	C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.T372I	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	736						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)														---	---	---	---	capture		Missense_Mutation	SNP	113462282	113462282	2349	4	G	A	A	44	44	C4orf21	A	2	2
ANK2	287	broad.mit.edu	37	4	114195750	114195750	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114195750T>C	uc003ibe.3	+	15	1728	c.1628T>C	c.(1627-1629)GTG>GCG	p.V543A	ANK2_uc003ibd.3_Missense_Mutation_p.V522A|ANK2_uc003ibf.3_Missense_Mutation_p.V543A|ANK2_uc003ibc.2_Missense_Mutation_p.V519A|ANK2_uc011cgb.1_Missense_Mutation_p.V558A	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	543	ANK 16.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---	capture		Missense_Mutation	SNP	114195750	114195750	624	4	T	C	C	59	59	ANK2	C	4	4
IL21	59067	broad.mit.edu	37	4	123542049	123542049	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123542049G>T	uc003ies.2	-	1	163	c.118C>A	c.(118-120)CGT>AGT	p.R40S	uc003iet.2_RNA|IL21_uc010int.2_Missense_Mutation_p.R33S	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	interleukin 21	33					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	123542049	123542049	7971	4	G	T	T	38	38	IL21	T	1	1
SLC7A11	23657	broad.mit.edu	37	4	139100532	139100532	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:139100532G>T	uc011chb.1	-	11	1563	c.1283C>A	c.(1282-1284)CCA>CAA	p.P428Q		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	428	Helical; (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)													---	---	---	---	capture		Missense_Mutation	SNP	139100532	139100532	15191	4	G	T	T	47	47	SLC7A11	T	2	2
NPY2R	4887	broad.mit.edu	37	4	156135368	156135368	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156135368G>T	uc003ioq.2	+	2	772	c.277G>T	c.(277-279)GCT>TCT	p.A93S	NPY2R_uc003ior.2_Missense_Mutation_p.A93S	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	93	Helical; Name=2; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)																---	---	---	---	capture		Missense_Mutation	SNP	156135368	156135368	11014	4	G	T	T	42	42	NPY2R	T	2	2
GRIA2	2891	broad.mit.edu	37	4	158224786	158224786	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158224786C>T	uc003ipm.3	+	3	771	c.312C>T	c.(310-312)TGC>TGT	p.C104C	GRIA2_uc011cit.1_Silent_p.C57C|GRIA2_uc003ipl.3_Silent_p.C104C|GRIA2_uc003ipk.3_Silent_p.C57C|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	104	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)													---	---	---	---	capture		Silent	SNP	158224786	158224786	7046	4	C	T	T	27	27	GRIA2	T	1	1
C4orf46	201725	broad.mit.edu	37	4	159590809	159590809	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159590809C>G	uc003iqa.2	-	2	547	c.298G>C	c.(298-300)GAC>CAC	p.D100H	C4orf46_uc010iqp.1_RNA|ETFDH_uc010iqq.2_5'Flank|ETFDH_uc003iqb.2_5'Flank|ETFDH_uc011cjg.1_5'Flank|ETFDH_uc010iqr.2_5'Flank	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN	hypothetical protein LOC201725	100										skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	159590809	159590809	2369	4	C	G	G	30	30	C4orf46	G	3	3
RAPGEF2	9693	broad.mit.edu	37	4	160251607	160251607	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160251607A>G	uc003iqg.3	+	7	1251	c.941A>G	c.(940-942)AAA>AGA	p.K314R		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	314	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---	capture		Missense_Mutation	SNP	160251607	160251607	13504	4	A	G	G	1	1	RAPGEF2	G	4	4
FSTL5	56884	broad.mit.edu	37	4	162697178	162697178	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:162697178A>G	uc003iqh.2	-	5	894	c.458T>C	c.(457-459)TTA>TCA	p.L153S	FSTL5_uc003iqi.2_Missense_Mutation_p.L152S|FSTL5_uc010iqv.2_Missense_Mutation_p.L152S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	153						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)														---	---	---	---	capture		Missense_Mutation	SNP	162697178	162697178	6331	4	A	G	G	13	13	FSTL5	G	4	4
FSTL5	56884	broad.mit.edu	37	4	162697198	162697198	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:162697198G>T	uc003iqh.2	-	5	874	c.438C>A	c.(436-438)AGC>AGA	p.S146R	FSTL5_uc003iqi.2_Missense_Mutation_p.S145R|FSTL5_uc010iqv.2_Missense_Mutation_p.S145R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	146						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)														---	---	---	---	capture		Missense_Mutation	SNP	162697198	162697198	6331	4	G	T	T	46	46	FSTL5	T	2	2
SH3RF1	57630	broad.mit.edu	37	4	170038874	170038874	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170038874C>A	uc003isa.1	-	9	1912	c.1577G>T	c.(1576-1578)CGG>CTG	p.R526L	SH3RF1_uc010irc.1_Missense_Mutation_p.R226L	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	526	Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)														---	---	---	---	capture		Missense_Mutation	SNP	170038874	170038874	14750	4	C	A	A	23	23	SH3RF1	A	1	1
ADAM29	11086	broad.mit.edu	37	4	175897228	175897228	+	Silent	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:175897228T>A	uc003iuc.2	+	5	1222	c.552T>A	c.(550-552)ACT>ACA	p.T184T	ADAM29_uc003iud.2_Silent_p.T184T|ADAM29_uc010irr.2_Silent_p.T184T|ADAM29_uc011cki.1_Silent_p.T184T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	184					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)														---	---	---	---	capture		Silent	SNP	175897228	175897228	248	4	T	A	A	54	54	ADAM29	A	4	4
SDHA	6389	broad.mit.edu	37	5	225549	225549	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:225549G>T	uc003jao.3	+	4	443	c.328G>T	c.(328-330)GCT>TCT	p.A110S	SDHA_uc003jan.2_Missense_Mutation_p.A110S|SDHA_uc011clv.1_Missense_Mutation_p.A110S|SDHA_uc011clw.1_Intron|SDHA_uc003jap.3_Missense_Mutation_p.A110S|SDHA_uc003jaq.3_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	110					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									Familial_Paragangliomas				---	---	---	---	capture		Missense_Mutation	SNP	225549	225549	14448	5	G	T	T	46	46	SDHA	T	2	2
SLC9A3	6550	broad.mit.edu	37	5	482830	482830	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:482830G>T	uc003jbe.2	-	7	1301	c.1189C>A	c.(1189-1191)CGC>AGC	p.R397S	SLC9A3_uc011clx.1_Missense_Mutation_p.R397S	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	397	Extracellular (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)															---	---	---	---	capture		Missense_Mutation	SNP	482830	482830	15210	5	G	T	T	39	39	SLC9A3	T	1	1
NSUN2	54888	broad.mit.edu	37	5	6620312	6620312	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6620312T>C	uc003jdu.2	-	7	787	c.722A>G	c.(721-723)CAT>CGT	p.H241R	NSUN2_uc003jdt.2_Missense_Mutation_p.H5R|NSUN2_uc011cmk.1_Missense_Mutation_p.H206R|NSUN2_uc003jdv.2_Missense_Mutation_p.H5R	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	241						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	6620312	6620312	11083	5	T	C	C	51	51	NSUN2	C	4	4
PAPD7	11044	broad.mit.edu	37	5	6755026	6755026	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6755026C>G	uc003jdx.1	+	13	1726	c.1597C>G	c.(1597-1599)CGG>GGG	p.R533G	PAPD7_uc011cmn.1_Missense_Mutation_p.R523G|PAPD7_uc010itl.1_Missense_Mutation_p.R353G	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	533					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	6755026	6755026	11843	5	C	G	G	19	19	PAPD7	G	3	3
MYO10	4651	broad.mit.edu	37	5	16794933	16794933	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16794933C>A	uc003jft.3	-	4	757	c.289G>T	c.(289-291)GGC>TGC	p.G97C	MYO10_uc003jfu.2_Missense_Mutation_p.G64C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	97	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	16794933	16794933	10457	5	C	A	A	23	23	MYO10	A	1	1
CDH18	1016	broad.mit.edu	37	5	19612655	19612655	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19612655G>T	uc003jgc.2	-	5	1076	c.699C>A	c.(697-699)TCC>TCA	p.S233S	CDH18_uc003jgd.2_Silent_p.S233S|CDH18_uc011cnm.1_Silent_p.S233S	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	233	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---	capture		Silent	SNP	19612655	19612655	3232	5	G	T	T	39	39	CDH18	T	1	1
CDH12	1010	broad.mit.edu	37	5	21760770	21760770	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21760770G>T	uc010iuc.2	-	10	1988	c.1530C>A	c.(1528-1530)GTC>GTA	p.V510V	CDH12_uc011cno.1_Silent_p.V470V|CDH12_uc003jgk.2_Silent_p.V510V|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	510	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---	capture		Silent	SNP	21760770	21760770	3227	5	G	T	T	45	45	CDH12	T	2	2
CDH12	1010	broad.mit.edu	37	5	21975451	21975451	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21975451G>T	uc010iuc.2	-	3	733	c.275C>A	c.(274-276)ACC>AAC	p.T92N	CDH12_uc011cno.1_Missense_Mutation_p.T92N|CDH12_uc003jgk.2_Missense_Mutation_p.T92N	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	92	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---	capture		Missense_Mutation	SNP	21975451	21975451	3227	5	G	T	T	44	44	CDH12	T	2	2
CDH12	1010	broad.mit.edu	37	5	22078648	22078648	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:22078648C>A	uc010iuc.2	-	2	596	c.138G>T	c.(136-138)CGG>CGT	p.R46R	CDH12_uc011cno.1_Silent_p.R46R|CDH12_uc003jgk.2_Silent_p.R46R	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	46					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---	capture		Silent	SNP	22078648	22078648	3227	5	C	A	A	18	18	CDH12	A	2	2
RXFP3	51289	broad.mit.edu	37	5	33936910	33936910	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33936910C>G	uc003jic.1	+	1	422	c.65C>G	c.(64-66)GCA>GGA	p.A22G		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	22	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	33936910	33936910	14241	5	C	G	G	25	25	RXFP3	G	3	3
UGT3A1	133688	broad.mit.edu	37	5	35954480	35954480	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35954480C>A	uc003jjv.1	-	7	1553	c.1396G>T	c.(1396-1398)GGG>TGG	p.G466W	UGT3A1_uc003jjw.1_RNA	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	466	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	35954480	35954480	17521	5	C	A	A	21	21	UGT3A1	A	2	2
UGT3A1	133688	broad.mit.edu	37	5	35965865	35965865	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35965865C>T	uc003jjv.1	-	4	623	c.466G>A	c.(466-468)GAG>AAG	p.E156K	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.E156K|UGT3A1_uc011cor.1_Missense_Mutation_p.E122K|UGT3A1_uc003jjy.1_Missense_Mutation_p.E102K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	156	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	35965865	35965865	17521	5	C	T	T	29	29	UGT3A1	T	2	2
UGT3A2	167127	broad.mit.edu	37	5	36035849	36035849	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36035849C>T	uc003jjz.1	-	7	1616	c.1523G>A	c.(1522-1524)GGC>GAC	p.G508D	UGT3A2_uc011cos.1_Missense_Mutation_p.G474D|UGT3A2_uc011cot.1_Missense_Mutation_p.G206D	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	508	Cytoplasmic (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	36035849	36035849	17522	5	C	T	T	26	26	UGT3A2	T	2	2
C5orf42	65250	broad.mit.edu	37	5	37198880	37198880	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37198880C>A	uc011cpa.1	-	20	3827	c.3596G>T	c.(3595-3597)CGG>CTG	p.R1199L	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R274L|C5orf42_uc011cpb.1_Missense_Mutation_p.R80L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1199										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	37198880	37198880	2399	5	C	A	A	23	23	C5orf42	A	1	1
CARD6	84674	broad.mit.edu	37	5	40852718	40852718	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40852718G>T	uc003jmg.2	+	3	1359	c.1284G>T	c.(1282-1284)GTG>GTT	p.V428V		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	428					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Silent	SNP	40852718	40852718	2769	5	G	T	T	45	45	CARD6	T	2	2
C7	730	broad.mit.edu	37	5	40972654	40972654	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40972654A>G	uc003jmh.2	+	15	2146	c.2032A>G	c.(2032-2034)AAG>GAG	p.K678E	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	678	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)																---	---	---	---	capture		Missense_Mutation	SNP	40972654	40972654	2482	5	A	G	G	13	13	C7	G	4	4
CENPK	64105	broad.mit.edu	37	5	64824836	64824836	+	Missense_Mutation	SNP	C	A	A	rs138940796		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64824836C>A	uc003jts.2	-	8	592	c.380G>T	c.(379-381)CGG>CTG	p.R127L	CENPK_uc003jtt.2_Missense_Mutation_p.R97L|CENPK_uc003jtu.2_Missense_Mutation_p.R127L	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	SoxLZ/Sox6 leucine zipper binding protein	127	Potential.				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm					0		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)														---	---	---	---	capture		Missense_Mutation	SNP	64824836	64824836	3368	5	C	A	A	23	23	CENPK	A	1	1
TAF9	6880	broad.mit.edu	37	5	68661332	68661332	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:68661332C>A	uc003jwc.1	-	2	565	c.233G>T	c.(232-234)CGC>CTC	p.R78L	TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.R78L|TAF9_uc003jwe.1_Missense_Mutation_p.R78L|TAF9_uc003jwf.1_Missense_Mutation_p.R78L	NM_003187	NP_003178	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding	78					histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding				0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)														---	---	---	---	capture		Missense_Mutation	SNP	68661332	68661332	16056	5	C	A	A	27	27	TAF9	A	1	1
BDP1	55814	broad.mit.edu	37	5	70806636	70806636	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70806636G>T	uc003kbp.1	+	17	3980	c.3717G>T	c.(3715-3717)AAG>AAT	p.K1239N	BDP1_uc003kbn.1_Missense_Mutation_p.K1239N|BDP1_uc003kbo.2_Missense_Mutation_p.K1239N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1239	Potential.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|8; approximate.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---	capture		Missense_Mutation	SNP	70806636	70806636	1417	5	G	T	T	35	35	BDP1	T	2	2
CDKL3	51265	broad.mit.edu	37	5	133638306	133638306	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:133638306A>G	uc003kzf.3	-	12	1813	c.1694T>C	c.(1693-1695)GTG>GCG	p.V565A	CDKL3_uc011cxm.1_Missense_Mutation_p.V372A|CDKL3_uc011cxn.1_RNA|CDKL3_uc010jdw.2_Missense_Mutation_p.V172A|CDKL3_uc011cxo.1_Missense_Mutation_p.V270A|CDKL3_uc011cxp.1_Missense_Mutation_p.V270A|CDKL3_uc011cxq.1_Missense_Mutation_p.V372A	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	565						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---	capture		Missense_Mutation	SNP	133638306	133638306	3284	5	A	G	G	6	6	CDKL3	G	4	4
CDC25C	995	broad.mit.edu	37	5	137621721	137621721	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137621721G>A	uc003lcp.1	-	13	1533	c.1262C>T	c.(1261-1263)CCA>CTA	p.P421L	CDC25C_uc003lcq.1_Missense_Mutation_p.P348L|CDC25C_uc003lcr.1_Missense_Mutation_p.P421L|CDC25C_uc011cyp.1_Missense_Mutation_p.P438L|CDC25C_uc003lcs.1_Missense_Mutation_p.P499L	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	421	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---	capture		Missense_Mutation	SNP	137621721	137621721	3192	5	G	A	A	47	47	CDC25C	A	2	2
ETF1	2107	broad.mit.edu	37	5	137878583	137878583	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137878583C>T	uc003ldc.3	-	2	190	c.25G>A	c.(25-27)GAC>AAC	p.D9N	ETF1_uc011cyv.1_5'Flank|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_5'UTR	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	9					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---	capture		Missense_Mutation	SNP	137878583	137878583	5461	5	C	T	T	31	31	ETF1	T	1	1
PCDHA1	56147	broad.mit.edu	37	5	140166069	140166069	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140166069G>T	uc003lhb.2	+	1	194	c.194G>T	c.(193-195)CGG>CTG	p.R65L	PCDHA1_uc003lha.2_Missense_Mutation_p.R65L|PCDHA1_uc003lgz.2_Missense_Mutation_p.R65L	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	65	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140166069	140166069	11939	5	G	T	T	39	39	PCDHA1	T	1	1
PCDHA2	56146	broad.mit.edu	37	5	140176677	140176677	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140176677C>T	uc003lhd.2	+	1	2234	c.2128C>T	c.(2128-2130)CTG>TTG	p.L710L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.L710L|PCDHA2_uc011czy.1_Silent_p.L710L	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	710	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140176677	140176677	11944	5	C	T	T	24	24	PCDHA2	T	2	2
PCDHA3	56145	broad.mit.edu	37	5	140182453	140182453	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140182453C>T	uc003lhf.2	+	1	1671	c.1671C>T	c.(1669-1671)GAC>GAT	p.D557D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.D557D	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	557	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140182453	140182453	11945	5	C	T	T	19	19	PCDHA3	T	1	1
PCDHA4	56144	broad.mit.edu	37	5	140188218	140188218	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140188218G>T	uc003lhi.2	+	1	1547	c.1446G>T	c.(1444-1446)GCG>GCT	p.A482A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A482A|PCDHA4_uc011daa.1_Silent_p.A482A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140188218	140188218	11946	5	G	T	T	39	39	PCDHA4	T	1	1
PCDHGA12	26025	broad.mit.edu	37	5	140810457	140810457	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140810457G>T	uc003lkt.1	+	1	300	c.131G>T	c.(130-132)AGG>ATG	p.R44M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R44M	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	44	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140810457	140810457	11973	5	G	T	T	35	35	PCDHGA12	T	2	2
DIAPH1	1729	broad.mit.edu	37	5	140966626	140966626	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140966626G>C	uc003llb.3	-	3	424	c.283C>G	c.(283-285)CTC>GTC	p.L95V	DIAPH1_uc003llc.3_Missense_Mutation_p.L86V	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	95	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140966626	140966626	4697	5	G	C	C	33	33	DIAPH1	C	3	3
ABLIM3	22885	broad.mit.edu	37	5	148577924	148577924	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148577924C>A	uc003lpy.2	+	4	545	c.294C>A	c.(292-294)GGC>GGA	p.G98G	ABLIM3_uc003lpz.1_Silent_p.G98G|ABLIM3_uc003lqa.1_Missense_Mutation_p.A80D|ABLIM3_uc003lqb.2_Silent_p.G98G|ABLIM3_uc003lqc.1_Silent_p.G98G|ABLIM3_uc003lqd.1_Silent_p.G98G|ABLIM3_uc003lqf.2_Silent_p.G98G|ABLIM3_uc003lqe.1_Silent_p.G98G	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	98	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	148577924	148577924	97	5	C	A	A	26	26	ABLIM3	A	2	2
GABRA6	2559	broad.mit.edu	37	5	161128573	161128573	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161128573G>T	uc003lyu.2	+	9	1494	c.1156G>T	c.(1156-1158)GAG>TAG	p.E386*	GABRA6_uc003lyv.2_Nonsense_Mutation_p.E157*	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	386	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)										TCGA Ovarian(5;0.080)			---	---	---	---	capture		Nonsense_Mutation	SNP	161128573	161128573	6416	5	G	T	T	37	37	GABRA6	T	5	1
HIST1H4B	8366	broad.mit.edu	37	6	26027374	26027374	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26027374C>A	uc003nfr.2	-	1	107	c.107G>T	c.(106-108)CGG>CTG	p.R36L		NM_003544	NP_003535	P62805	H4_HUMAN	histone cluster 1, H4b	36					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	26027374	26027374	7451	6	C	A	A	23	23	HIST1H4B	A	1	1
BMP5	653	broad.mit.edu	37	6	55620414	55620414	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:55620414A>G	uc003pcq.2	-	7	1994	c.1282T>C	c.(1282-1284)TCT>CCT	p.S428P	BMP5_uc011dxf.1_Missense_Mutation_p.S391P	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	428					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	55620414	55620414	1488	6	A	G	G	11	11	BMP5	G	4	4
DST	667	broad.mit.edu	37	6	56335002	56335002	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56335002T>A	uc003pdf.2	-	90	16071	c.16043A>T	c.(16042-16044)TAT>TTT	p.Y5348F	DST_uc003pcz.3_Missense_Mutation_p.Y5170F|DST_uc011dxj.1_Missense_Mutation_p.Y5199F|DST_uc011dxk.1_Missense_Mutation_p.Y5210F|DST_uc003pcy.3_Missense_Mutation_p.Y4844F|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7256	EF-hand 2.|2 (Potential).				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)															---	---	---	---	capture		Missense_Mutation	SNP	56335002	56335002	4967	6	T	A	A	49	49	DST	A	4	4
RWDD2A	112611	broad.mit.edu	37	6	83905545	83905545	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83905545T>C	uc003pjx.3	+	3	704	c.433T>C	c.(433-435)TCT>CCT	p.S145P	PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Missense_Mutation_p.S70P	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	145											0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)														---	---	---	---	capture		Missense_Mutation	SNP	83905545	83905545	14235	6	T	C	C	50	50	RWDD2A	C	4	4
C6orf165	154313	broad.mit.edu	37	6	88173891	88173891	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88173891G>T	uc003plv.2	+	13	1884	c.1792G>T	c.(1792-1794)GCT>TCT	p.A598S	SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Missense_Mutation_p.A410S|C6orf165_uc010kbv.1_RNA	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	598										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)														---	---	---	---	capture		Missense_Mutation	SNP	88173891	88173891	2446	6	G	T	T	42	42	C6orf165	T	2	2
FUT9	10690	broad.mit.edu	37	6	96651800	96651800	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96651800C>T	uc003pop.3	+	3	1110	c.769C>T	c.(769-771)CTA>TTA	p.L257L		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	257	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)														---	---	---	---	capture		Silent	SNP	96651800	96651800	6362	6	C	T	T	28	28	FUT9	T	2	2
PREP	5550	broad.mit.edu	37	6	105825364	105825364	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105825364C>G	uc003prc.2	-	3	354	c.151G>C	c.(151-153)GTG>CTG	p.V51L		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	51					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)													---	---	---	---	capture		Missense_Mutation	SNP	105825364	105825364	12917	6	C	G	G	17	17	PREP	G	3	3
AIM1	202	broad.mit.edu	37	6	106973217	106973217	+	Silent	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:106973217T>A	uc003prh.2	+	4	3631	c.3144T>A	c.(3142-3144)TCT>TCA	p.S1048S		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1048	Beta/gamma crystallin 'Greek key' 1.						sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)														---	---	---	---	capture		Silent	SNP	106973217	106973217	433	6	T	A	A	56	56	AIM1	A	4	4
ROS1	6098	broad.mit.edu	37	6	117679032	117679032	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117679032G>T	uc003pxp.1	-	24	3988	c.3789C>A	c.(3787-3789)CCC>CCA	p.P1263P	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1263	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---	capture		Silent	SNP	117679032	117679032	14010	6	G	T	T	47	47	ROS1	T	2	2
TAAR6	319100	broad.mit.edu	37	6	132891957	132891957	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132891957C>A	uc011eck.1	+	1	497	c.497C>A	c.(496-498)GCT>GAT	p.A166D		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	166	Helical; Name=4; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)														---	---	---	---	capture		Missense_Mutation	SNP	132891957	132891957	16013	6	C	A	A	28	28	TAAR6	A	2	2
HBS1L	10767	broad.mit.edu	37	6	135300358	135300358	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135300358T>C	uc003qez.2	-	14	1853	c.1646A>G	c.(1645-1647)CAT>CGT	p.H549R	HBS1L_uc003qey.2_Missense_Mutation_p.H385R|HBS1L_uc011ecy.1_Missense_Mutation_p.H273R|HBS1L_uc011ecz.1_Missense_Mutation_p.H385R|HBS1L_uc011eda.1_Missense_Mutation_p.H507R	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	549					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)														---	---	---	---	capture		Missense_Mutation	SNP	135300358	135300358	7269	6	T	C	C	51	51	HBS1L	C	4	4
HBS1L	10767	broad.mit.edu	37	6	135375816	135375816	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135375816C>A	uc003qez.2	-	1	221	c.14G>T	c.(13-15)CGG>CTG	p.R5L	HBS1L_uc011eda.1_Missense_Mutation_p.R5L|HBS1L_uc003qfa.2_Missense_Mutation_p.R5L	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	5					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)														---	---	---	---	capture		Missense_Mutation	SNP	135375816	135375816	7269	6	C	A	A	23	23	HBS1L	A	1	1
SASH1	23328	broad.mit.edu	37	6	148865626	148865626	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148865626C>T	uc003qme.1	+	18	3495	c.3020C>T	c.(3019-3021)CCC>CTC	p.P1007L	SASH1_uc011eeb.1_Missense_Mutation_p.P768L|SASH1_uc003qmf.1_Missense_Mutation_p.P417L	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1007	Pro-rich.						protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---	capture		Missense_Mutation	SNP	148865626	148865626	14329	6	C	T	T	22	22	SASH1	T	2	2
SYNE1	23345	broad.mit.edu	37	6	152527420	152527420	+	Silent	SNP	C	T	T	rs140577642		TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152527420C>T	uc010kiw.2	-	126	23504	c.22902G>A	c.(22900-22902)TCG>TCA	p.S7634S	SYNE1_uc010kiv.2_Silent_p.S2158S|SYNE1_uc003qos.3_Silent_p.S2158S|SYNE1_uc003qot.3_Silent_p.S7563S|SYNE1_uc003qou.3_Silent_p.S7634S|SYNE1_uc003qor.3_Silent_p.S534S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7634	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture		Silent	SNP	152527420	152527420	15966	6	C	T	T	23	23	SYNE1	T	1	1
GLCCI1	113263	broad.mit.edu	37	7	8124623	8124623	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8124623G>C	uc003srk.2	+	7	1833	c.1274G>C	c.(1273-1275)CGA>CCA	p.R425P		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	425											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)														---	---	---	---	capture		Missense_Mutation	SNP	8124623	8124623	6699	7	G	C	C	37	37	GLCCI1	C	3	3
DNAH11	8701	broad.mit.edu	37	7	21757518	21757518	+	Nonsense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21757518C>G	uc003svc.2	+	44	7161	c.7130C>G	c.(7129-7131)TCA>TGA	p.S2377*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2377					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---	capture		Nonsense_Mutation	SNP	21757518	21757518	4781	7	C	G	G	29	29	DNAH11	G	5	3
STK31	56164	broad.mit.edu	37	7	23775399	23775399	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23775399G>T	uc003sws.3	+	7	793	c.726G>T	c.(724-726)TTG>TTT	p.L242F	STK31_uc003swt.3_Missense_Mutation_p.L219F|STK31_uc011jze.1_Missense_Mutation_p.L242F|STK31_uc010kuq.2_Missense_Mutation_p.L219F	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	242							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---	capture		Missense_Mutation	SNP	23775399	23775399	15816	7	G	T	T	48	48	STK31	T	2	2
AQP1	358	broad.mit.edu	37	7	30951557	30951557	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30951557G>T	uc003tbv.1	+	1	90	c.33G>T	c.(31-33)TGG>TGT	p.W11C	AQP1_uc011kac.1_Intron	NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	11	Helical; Name=Helix 1.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)													---	---	---	---	capture		Missense_Mutation	SNP	30951557	30951557	832	7	G	T	T	41	41	AQP1	T	2	2
MRPS24	64951	broad.mit.edu	37	7	43906368	43906368	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43906368T>C	uc003tit.1	-	4	485	c.434A>G	c.(433-435)TAC>TGC	p.Y145C		NM_032014	NP_114403	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24 precursor	145					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0																		---	---	---	---	capture		Missense_Mutation	SNP	43906368	43906368	10228	7	T	C	C	57	57	MRPS24	C	4	4
DBNL	28988	broad.mit.edu	37	7	44099661	44099661	+	Silent	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44099661T>C	uc003tjp.3	+	12	1160	c.1062T>C	c.(1060-1062)GGT>GGC	p.G354G	DBNL_uc003tjo.3_Silent_p.G355G|DBNL_uc003tjr.3_Silent_p.G227G|DBNL_uc003tjq.3_Silent_p.G363G|DBNL_uc011kbm.1_Silent_p.G330G|DBNL_uc011kbn.1_Silent_p.G251G|DBNL_uc011kbo.1_Silent_p.G255G|DBNL_uc011kbp.1_Silent_p.G306G|DBNL_uc011kbq.1_Silent_p.G279G|DBNL_uc011kbr.1_Silent_p.G303G|DBNL_uc011kbs.1_Silent_p.G259G	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	354					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	44099661	44099661	4426	7	T	C	C	59	59	DBNL	C	4	4
ABCA13	154664	broad.mit.edu	37	7	48556400	48556400	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48556400C>A	uc003toq.2	+	52	13745	c.13720C>A	c.(13720-13722)CTA>ATA	p.L4574I	ABCA13_uc010kys.1_Missense_Mutation_p.L1649I|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L304I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4574	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	48556400	48556400	32	7	C	A	A	20	20	ABCA13	A	2	2
WBSCR22	114049	broad.mit.edu	37	7	73111979	73111979	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73111979G>T	uc003tyt.2	+	11	804	c.746G>T	c.(745-747)CGG>CTG	p.R249L	WBSCR22_uc003tyu.2_Missense_Mutation_p.R266L|WBSCR22_uc003tyv.2_Missense_Mutation_p.R211L|WBSCR22_uc003tyw.1_Missense_Mutation_p.R112L	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	249						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)																---	---	---	---	capture		Missense_Mutation	SNP	73111979	73111979	17837	7	G	T	T	39	39	WBSCR22	T	1	1
CLIP2	7461	broad.mit.edu	37	7	73803459	73803459	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73803459G>T	uc003uam.2	+	13	2917	c.2590G>T	c.(2590-2592)GAG>TAG	p.E864*	CLIP2_uc003uan.2_Nonsense_Mutation_p.E829*	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	864	Potential.					microtubule associated complex				skin(3)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	73803459	73803459	3671	7	G	T	T	37	37	CLIP2	T	5	1
CACNA2D1	781	broad.mit.edu	37	7	81624184	81624184	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81624184C>T	uc003uhr.1	-	20	1990	c.1734G>A	c.(1732-1734)GAG>GAA	p.E578E		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	597	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)													---	---	---	---	capture		Silent	SNP	81624184	81624184	2664	7	C	T	T	24	24	CACNA2D1	T	2	2
COL1A2	1278	broad.mit.edu	37	7	94035032	94035032	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94035032C>A	uc003ung.1	+	11	1005	c.534C>A	c.(532-534)GGC>GGA	p.G178G	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_RNA	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	178					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)										HNSCC(75;0.22)			---	---	---	---	capture		Silent	SNP	94035032	94035032	3816	7	C	A	A	25	25	COL1A2	A	2	2
DOCK4	9732	broad.mit.edu	37	7	111462506	111462506	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:111462506G>A	uc003vfx.2	-	27	3111	c.2842C>T	c.(2842-2844)CTG>TTG	p.L948L	DOCK4_uc003vfw.2_Silent_p.L389L|DOCK4_uc003vfy.2_Silent_p.L984L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	948					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)																---	---	---	---	capture		Silent	SNP	111462506	111462506	4873	7	G	A	A	35	35	DOCK4	A	2	2
CADPS2	93664	broad.mit.edu	37	7	122114483	122114483	+	Silent	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122114483G>A	uc010lkp.2	-	12	2113	c.1950C>T	c.(1948-1950)CTC>CTT	p.L650L	CADPS2_uc011knx.1_Silent_p.L21L|CADPS2_uc003vkg.3_Silent_p.L347L|CADPS2_uc010lkq.2_Silent_p.L647L	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	650					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	122114483	122114483	2687	7	G	A	A	41	41	CADPS2	A	2	2
KLHDC10	23008	broad.mit.edu	37	7	129764369	129764369	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129764369A>T	uc003vpj.1	+	6	993	c.858A>T	c.(856-858)TTA>TTT	p.L286F	KLHDC10_uc003vpk.1_Missense_Mutation_p.L257F|KLHDC10_uc010lmb.1_Missense_Mutation_p.L183F	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	286	Kelch 4.										0																		---	---	---	---	capture		Missense_Mutation	SNP	129764369	129764369	8667	7	A	T	T	13	13	KLHDC10	T	4	4
SSPO	23145	broad.mit.edu	37	7	149482226	149482226	+	Missense_Mutation	SNP	G	C	C	rs149954255	by1000genomes	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149482226G>C	uc010lpk.2	+	21	2900	c.2900G>C	c.(2899-2901)CGC>CCC	p.R967P	SSPO_uc010lpl.1_Missense_Mutation_p.A303P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	967					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---	capture		Missense_Mutation	SNP	149482226	149482226	15705	7	G	C	C	38	38	SSPO	C	3	3
SLC4A2	6522	broad.mit.edu	37	7	150773153	150773153	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150773153C>T	uc003wit.3	+	22	3781	c.3525C>T	c.(3523-3525)GCC>GCT	p.A1175A	SLC4A2_uc011kve.1_Silent_p.A1166A|SLC4A2_uc003wiu.3_Silent_p.A1161A|SLC4A2_uc003wiv.3_Silent_p.A369A|uc011kvf.1_Missense_Mutation_p.G98S	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	1175	Membrane (anion exchange).|Helical; (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Silent	SNP	150773153	150773153	15151	7	C	T	T	22	22	SLC4A2	T	2	2
MLL3	58508	broad.mit.edu	37	7	151962221	151962221	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151962221A>T	uc003wla.2	-	8	1305	c.1086T>A	c.(1084-1086)TGT>TGA	p.C362*		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	362	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---	capture		Nonsense_Mutation	SNP	151962221	151962221	10012	7	A	T	T	6	6	MLL3	T	5	4
INTS10	55174	broad.mit.edu	37	8	19687965	19687965	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19687965G>T	uc003wzj.2	+	10	1320	c.1189G>T	c.(1189-1191)GTA>TTA	p.V397L		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	397					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---	capture		Missense_Mutation	SNP	19687965	19687965	8077	8	G	T	T	48	48	INTS10	T	2	2
INTS10	55174	broad.mit.edu	37	8	19687967	19687967	+	Silent	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19687967A>T	uc003wzj.2	+	10	1322	c.1191A>T	c.(1189-1191)GTA>GTT	p.V397V		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	397					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)														---	---	---	---	capture		Silent	SNP	19687967	19687967	8077	8	A	T	T	15	15	INTS10	T	4	4
STAR	6770	broad.mit.edu	37	8	38008297	38008297	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38008297A>C	uc003xkv.1	-	1	304	c.40T>G	c.(40-42)TAC>GAC	p.Y14D	STAR_uc010lwc.1_Missense_Mutation_p.Y14D	NM_001007243	NP_001007244	P49675	STAR_HUMAN	steroidogenic acute regulatory protein isoform	14					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)														---	---	---	---	capture		Missense_Mutation	SNP	38008297	38008297	15773	8	A	C	C	15	15	STAR	C	4	4
DDHD2	23259	broad.mit.edu	37	8	38105316	38105316	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38105316A>G	uc003xlb.2	+	10	1588	c.1211A>G	c.(1210-1212)GAT>GGT	p.D404G	DDHD2_uc003xlc.2_Missense_Mutation_p.D404G|DDHD2_uc011lbl.1_Missense_Mutation_p.D216G|DDHD2_uc003xld.2_Missense_Mutation_p.D23G	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	404	SAM.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)															---	---	---	---	capture		Missense_Mutation	SNP	38105316	38105316	4498	8	A	G	G	12	12	DDHD2	G	4	4
WHSC1L1	54904	broad.mit.edu	37	8	38205604	38205604	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38205604C>T	uc003xli.2	-	2	604	c.86G>A	c.(85-87)CGT>CAT	p.R29H	WHSC1L1_uc011lbm.1_Missense_Mutation_p.R29H|WHSC1L1_uc010lwe.2_Missense_Mutation_p.R29H|WHSC1L1_uc003xlj.2_Missense_Mutation_p.R29H	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	29					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)					T	NUP98	AML								---	---	---	---	capture		Missense_Mutation	SNP	38205604	38205604	17937	8	C	T	T	19	19	WHSC1L1	T	1	1
ADAM2	2515	broad.mit.edu	37	8	39694659	39694659	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39694659G>A	uc003xnj.2	-	2	203	c.128C>T	c.(127-129)TCG>TTG	p.S43L	ADAM2_uc003xnk.2_Missense_Mutation_p.S43L|ADAM2_uc011lck.1_Missense_Mutation_p.S43L|ADAM2_uc003xnl.2_Missense_Mutation_p.S43L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	43					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)														---	---	---	---	capture		Missense_Mutation	SNP	39694659	39694659	242	8	G	A	A	37	37	ADAM2	A	1	1
PRKDC	5591	broad.mit.edu	37	8	48743256	48743256	+	Silent	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48743256G>C	uc003xqi.2	-	62	8364	c.8307C>G	c.(8305-8307)GTC>GTG	p.V2769V	PRKDC_uc003xqj.2_Silent_p.V2769V|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2769	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---	capture		Silent	SNP	48743256	48743256	12964	8	G	C	C	37	37	PRKDC	C	3	3
LYN	4067	broad.mit.edu	37	8	56866519	56866519	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56866519G>C	uc003xsk.3	+	8	1048	c.766G>C	c.(766-768)GGG>CGG	p.G256R	LYN_uc003xsl.3_Missense_Mutation_p.G235R	NM_002350	NP_002341	P07948	LYN_HUMAN	Yamaguchi sarcoma viral (v-yes-1) oncogene	256	Protein kinase.|ATP (By similarity).				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---	capture		Missense_Mutation	SNP	56866519	56866519	9484	8	G	C	C	47	47	LYN	C	3	3
CLVS1	157807	broad.mit.edu	37	8	62212665	62212665	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62212665C>A	uc003xuh.2	+	2	603	c.279C>A	c.(277-279)CTC>CTA	p.L93L	CLVS1_uc003xug.2_Silent_p.L93L|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.L93L	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	93					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5																		---	---	---	---	capture		Silent	SNP	62212665	62212665	3709	8	C	A	A	30	30	CLVS1	A	2	2
ZFHX4	79776	broad.mit.edu	37	8	77616888	77616888	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77616888C>A	uc003yav.2	+	2	952	c.565C>A	c.(565-567)CCA>ACA	p.P189T	ZFHX4_uc003yat.1_Missense_Mutation_p.P189T|ZFHX4_uc003yau.1_Missense_Mutation_p.P189T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P189T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	77616888	77616888	18223	8	C	A	A	22	22	ZFHX4	A	2	2
MMP16	4325	broad.mit.edu	37	8	89130996	89130996	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89130996G>T	uc003yeb.3	-	5	1086	c.804C>A	c.(802-804)TAC>TAA	p.Y268*	MMP16_uc003yec.2_Nonsense_Mutation_p.Y268*	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	268	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---	capture		Nonsense_Mutation	SNP	89130996	89130996	10045	8	G	T	T	44	44	MMP16	T	5	2
PKHD1L1	93035	broad.mit.edu	37	8	110489571	110489571	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110489571C>A	uc003yne.2	+	53	9139	c.9035C>A	c.(9034-9036)CCT>CAT	p.P3012H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3012	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---	capture		Missense_Mutation	SNP	110489571	110489571	12397	8	C	A	A	24	24	PKHD1L1	A	2	2
CSMD3	114788	broad.mit.edu	37	8	113304900	113304900	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113304900C>G	uc003ynu.2	-	55	8813	c.8654G>C	c.(8653-8655)AGA>ACA	p.R2885T	CSMD3_uc003yns.2_Missense_Mutation_p.R2087T|CSMD3_uc003ynt.2_Missense_Mutation_p.R2845T|CSMD3_uc011lhx.1_Missense_Mutation_p.R2716T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2885	Extracellular (Potential).|Sushi 19.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	113304900	113304900	4087	8	C	G	G	32	32	CSMD3	G	3	3
COL14A1	7373	broad.mit.edu	37	8	121259859	121259859	+	Silent	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121259859C>A	uc003yox.2	+	21	2752	c.2487C>A	c.(2485-2487)TCC>TCA	p.S829S	COL14A1_uc003yoy.2_Silent_p.S507S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	829	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---	capture		Silent	SNP	121259859	121259859	3809	8	C	A	A	24	24	COL14A1	A	2	2
GPR20	2843	broad.mit.edu	37	8	142367017	142367017	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142367017C>T	uc003ywf.2	-	2	1096	c.1007G>A	c.(1006-1008)GGC>GAC	p.G336D		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	336	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)															---	---	---	---	capture		Missense_Mutation	SNP	142367017	142367017	6955	8	C	T	T	26	26	GPR20	T	2	2
CYP11B1	1584	broad.mit.edu	37	8	143961141	143961141	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143961141C>T	uc003yxi.2	-	1	96	c.89G>A	c.(88-90)CGG>CAG	p.R30Q	CYP11B1_uc003yxj.2_Missense_Mutation_p.R30Q|CYP11B1_uc010mey.2_Missense_Mutation_p.R30Q	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	30					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)									Familial_Hyperaldosteronism_type_I				---	---	---	---	capture		Missense_Mutation	SNP	143961141	143961141	4310	8	C	T	T	23	23	CYP11B1	T	1	1
HSF1	3297	broad.mit.edu	37	8	145537523	145537523	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145537523G>T	uc003zbt.3	+	11	1433	c.1263G>T	c.(1261-1263)TCG>TCT	p.S421S	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	421	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)															---	---	---	---	capture		Silent	SNP	145537523	145537523	7690	8	G	T	T	39	39	HSF1	T	1	1
KIFC2	90990	broad.mit.edu	37	8	145692606	145692606	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145692606G>T	uc003zcz.2	+	4	416	c.351G>T	c.(349-351)CTG>CTT	p.L117L	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	117					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)													OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	145692606	145692606	8624	8	G	T	T	48	48	KIFC2	T	2	2
DOCK8	81704	broad.mit.edu	37	9	464218	464218	+	Nonstop_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:464218A>T	uc003zgf.2	+	48	6411	c.6299A>T	c.(6298-6300)TAA>TTA	p.*2100L	DOCK8_uc010mgu.2_Nonstop_Mutation_p.*1402L|DOCK8_uc010mgv.2_Nonstop_Mutation_p.*2000L|DOCK8_uc003zgk.2_Nonstop_Mutation_p.*1558L	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2100					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)														---	---	---	---	capture		Nonstop_Mutation	SNP	464218	464218	4877	9	A	T	T	13	13	DOCK8	T	5	4
C9orf46	55848	broad.mit.edu	37	9	5431953	5431953	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5431953T>C	uc003zjc.2	-	3	229	c.25A>G	c.(25-27)ATG>GTG	p.M9V	C9orf46_uc003zjd.2_Missense_Mutation_p.M9V	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN	hypothetical protein LOC55848	9						integral to membrane				ovary(1)	1	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125)														---	---	---	---	capture		Missense_Mutation	SNP	5431953	5431953	2599	9	T	C	C	49	49	C9orf46	C	4	4
CNTLN	54875	broad.mit.edu	37	9	17409420	17409420	+	Silent	SNP	A	G	G			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:17409420A>G	uc003zmz.2	+	16	2768	c.2742A>G	c.(2740-2742)CAA>CAG	p.Q914Q	CNTLN_uc003zmy.2_Silent_p.Q915Q|CNTLN_uc010mio.2_Silent_p.Q594Q	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	915						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)														---	---	---	---	capture		Silent	SNP	17409420	17409420	3777	9	A	G	G	3	3	CNTLN	G	4	4
UNC13B	10497	broad.mit.edu	37	9	35377549	35377549	+	Missense_Mutation	SNP	G	T	T	rs142442316	by1000genomes	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35377549G>T	uc003zwq.2	+	15	1965	c.1673G>T	c.(1672-1674)CGA>CTA	p.R558L	UNC13B_uc003zwr.2_Missense_Mutation_p.R558L	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	558					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---	capture		Missense_Mutation	SNP	35377549	35377549	17543	9	G	T	T	37	37	UNC13B	T	1	1
C9orf79	286234	broad.mit.edu	37	9	90500888	90500888	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90500888C>A	uc004app.3	+	4	1521	c.1486C>A	c.(1486-1488)CAG>AAG	p.Q496K	C9orf79_uc004apo.1_Missense_Mutation_p.Q308K	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	496						integral to membrane				ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	90500888	90500888	2613	9	C	A	A	21	21	C9orf79	A	2	2
SEMA4D	10507	broad.mit.edu	37	9	92011737	92011737	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:92011737T>C	uc004aqo.1	-	8	901	c.329A>G	c.(328-330)AAC>AGC	p.N110S	SEMA4D_uc011ltm.1_Missense_Mutation_p.N110S|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.N108S	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	110	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	92011737	92011737	14520	9	T	C	C	60	60	SEMA4D	C	4	4
ZNF169	169841	broad.mit.edu	37	9	97062614	97062614	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:97062614G>T	uc004aum.1	+	5	879	c.774G>T	c.(772-774)GGG>GGT	p.G258G		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)																---	---	---	---	capture		Silent	SNP	97062614	97062614	18333	9	G	T	T	43	43	ZNF169	T	2	2
FKTN	2218	broad.mit.edu	37	9	108366570	108366570	+	Silent	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108366570C>T	uc004bcr.2	+	6	660	c.444C>T	c.(442-444)GAC>GAT	p.D148D	FKTN_uc011lvx.1_Silent_p.D148D|FKTN_uc004bcs.2_Silent_p.D148D|FKTN_uc011lvy.1_Silent_p.D148D|FKTN_uc010mtm.2_Silent_p.D16D	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	148	Lumenal (Potential).				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3																		---	---	---	---	capture		Silent	SNP	108366570	108366570	6157	9	C	T	T	19	19	FKTN	T	1	1
MED27	9442	broad.mit.edu	37	9	134955031	134955031	+	Silent	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134955031G>C	uc004cbe.1	-	1	223	c.201C>G	c.(199-201)CTC>CTG	p.L67L	MED27_uc004cbf.1_Silent_p.L67L|MED27_uc011mco.1_Silent_p.L67L|MED27_uc004cbg.3_Silent_p.L67L	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	67					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)														---	---	---	---	capture		Silent	SNP	134955031	134955031	9834	9	G	C	C	45	45	MED27	C	3	3
NOTCH1	4851	broad.mit.edu	37	9	139412360	139412360	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139412360A>T	uc004chz.2	-	8	1285	c.1285T>A	c.(1285-1287)TGC>AGC	p.C429S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	429	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---	capture		Missense_Mutation	SNP	139412360	139412360	10950	9	A	T	T	6	6	NOTCH1	T	4	4
NOTCH1	4851	broad.mit.edu	37	9	139413085	139413085	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139413085G>A	uc004chz.2	-	6	1057	c.1057C>T	c.(1057-1059)CGT>TGT	p.R353C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	353	Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R353H(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---	capture		Missense_Mutation	SNP	139413085	139413085	10950	9	G	A	A	39	39	NOTCH1	A	1	1
FRMPD4	9758	broad.mit.edu	37	X	12735105	12735105	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12735105G>T	uc004cuz.1	+	15	3033	c.2527G>T	c.(2527-2529)GAT>TAT	p.D843Y	FRMPD4_uc011mij.1_Missense_Mutation_p.D835Y	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	843					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---	capture		Missense_Mutation	SNP	12735105	12735105	6309	23	G	T	T	45	45	FRMPD4	T	2	2
MED14	9282	broad.mit.edu	37	X	40539210	40539210	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40539210C>T	uc004dex.3	-	21	2926	c.2786G>A	c.(2785-2787)CGG>CAG	p.R929Q		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	929					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	40539210	40539210	9821	23	C	T	T	23	23	MED14	T	1	1
DGKK	139189	broad.mit.edu	37	X	50136227	50136227	+	Silent	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50136227G>T	uc010njr.1	-	9	1578	c.1518C>A	c.(1516-1518)ATC>ATA	p.I506I		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	506	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)																	---	---	---	---	capture		Silent	SNP	50136227	50136227	4651	23	G	T	T	37	37	DGKK	T	1	1
TAF1	6872	broad.mit.edu	37	X	70613170	70613170	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70613170G>T	uc004dzu.3	+	21	3119	c.3068G>T	c.(3067-3069)TGG>TTG	p.W1023L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.W1044L|TAF1_uc004dzv.3_Missense_Mutation_p.W197L	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1023					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)																---	---	---	---	capture		Missense_Mutation	SNP	70613170	70613170	16034	23	G	T	T	47	47	TAF1	T	2	2
PCDH11X	27328	broad.mit.edu	37	X	91132500	91132500	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91132500G>T	uc004efk.1	+	2	2106	c.1261G>T	c.(1261-1263)GCA>TCA	p.A421S	PCDH11X_uc004efl.1_Missense_Mutation_p.A421S|PCDH11X_uc004efo.1_Missense_Mutation_p.A421S|PCDH11X_uc010nmv.1_Missense_Mutation_p.A421S|PCDH11X_uc004efm.1_Missense_Mutation_p.A421S|PCDH11X_uc004efn.1_Missense_Mutation_p.A421S|PCDH11X_uc004efh.1_Missense_Mutation_p.A421S|PCDH11X_uc004efj.1_Missense_Mutation_p.A421S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	421	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	91132500	91132500	11928	23	G	T	T	46	46	PCDH11X	T	2	2
DRP2	1821	broad.mit.edu	37	X	100503557	100503557	+	Missense_Mutation	SNP	G	C	C	rs149294275	by1000genomes	TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100503557G>C	uc004egz.2	+	14	1878	c.1509G>C	c.(1507-1509)TTG>TTC	p.L503F	DRP2_uc011mrh.1_Missense_Mutation_p.L425F	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	503					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	100503557	100503557	4948	23	G	C	C	48	48	DRP2	C	3	3
COL4A6	1288	broad.mit.edu	37	X	107403858	107403858	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107403858C>A	uc004enw.3	-	43	4466	c.4363G>T	c.(4363-4365)GGG>TGG	p.G1455W	COL4A6_uc004env.3_Missense_Mutation_p.G1454W|COL4A6_uc011msn.1_Missense_Mutation_p.G1430W|COL4A6_uc010npk.2_Missense_Mutation_p.G1397W|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_Intron	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1455	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---	capture		Missense_Mutation	SNP	107403858	107403858	3833	23	C	A	A	23	23	COL4A6	A	1	1
VGLL1	51442	broad.mit.edu	37	X	135631089	135631089	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135631089G>A	uc004ezy.2	+	3	726	c.556G>A	c.(556-558)GCC>ACC	p.A186T	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	SNP	135631089	135631089	17725	23	G	A	A	38	38	VGLL1	A	1	1
FMR1	2332	broad.mit.edu	37	X	147030327	147030327	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:147030327T>A	uc010nst.2	+	17	2051	c.1862T>A	c.(1861-1863)GTG>GAG	p.V621E	FMR1_uc004fcj.2_Missense_Mutation_p.V581E|FMR1_uc004fck.3_Missense_Mutation_p.V575E|FMR1_uc004fcl.3_Missense_Mutation_p.V461E|FMR1_uc011mxa.1_Missense_Mutation_p.V251E	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	621	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													Fragile_X_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	147030327	147030327	6202	23	T	A	A	59	59	FMR1	A	4	4
CNGA2	1260	broad.mit.edu	37	X	150912443	150912443	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150912443G>C	uc004fey.1	+	7	1692	c.1468G>C	c.(1468-1470)GAG>CAG	p.E490Q		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	490	cAMP (By similarity).|Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	150912443	150912443	3735	23	G	C	C	41	41	CNGA2	C	3	3
RBMY1A1	5940	broad.mit.edu	37	Y	23702602	23702602	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2789-01	TCGA-66-2789-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:23702602C>A	uc004fuq.3	+	4	444	c.332C>A	c.(331-333)TCT>TAT	p.S111Y	RBMY1A1_uc010nxa.2_Missense_Mutation_p.S111Y|RBMY1A1_uc004fur.3_Intron|RBMY1A1_uc011nbd.1_Missense_Mutation_p.S76Y	NM_001006120	NP_001006120	Q15414	RBY1A_HUMAN	RNA binding motif protein, Y-linked, family 1,	111					mRNA processing|RNA splicing|spermatogenesis	nucleus	nucleotide binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	23702602	23702602	13618	24	C	A	A	32	32	RBMY1A1	A	2	2
