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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	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	ref_context	gc_content	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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KIAA1751	85452	broad.mit.edu	37	1	1903491	1903491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:1903491C>T	uc001aim.1	-	9	972	c.816G>A	c.(814-816)ATG>ATA	p.M272I	KIAA1751_uc009vkz.1_Missense_Mutation_p.M272I	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	272										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CGTGGCACTCCATCTCCTCCT	0.468													14	59					0	0	0.004007	0	0
ESPN	83715	broad.mit.edu	37	1	6488372	6488372	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:6488372C>T	uc001amy.2	+	2	549	c.381C>T	c.(379-381)GGC>GGT	p.G127G		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	127	ANK 4.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCATCATGGCGGTGGGGACC	0.632													24	79					0	0	0.003954	0	0
DHRS3	9249	broad.mit.edu	37	1	12628431	12628431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:12628431C>T	uc001auc.2	-	6	1314	c.847G>A	c.(847-849)GAG>AAG	p.E283K	DHRS3_uc001aub.2_Missense_Mutation_p.E198K	NM_004753	NP_004744	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	283					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			skin(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGGATCTCCTCGAGTGCAGCC	0.527													26	117					0	0	0.001786	0	0
CROCCL1	84809	broad.mit.edu	37	1	16952896	16952896	+	RNA	SNP	G	A	A	rs1762945	by1000genomes	TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:16952896G>A	uc010ocf.1	-	1		c.99C>T			CROCCL1_uc009vov.1_RNA|CROCCL1_uc001aze.2_RNA|CROCCL1_uc001azf.2_RNA|CROCCL1_uc001azg.1_RNA					Homo sapiens mRNA for FLJ00313 protein.												0						CAAGGCTCTCGTTGAGGGCGC	0.637													17	94					0	0	0.006122	0	0
MST1P2	11209	broad.mit.edu	37	1	16975947	16975947	+	RNA	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:16975947C>T	uc010och.1	+	11		c.1969C>T			MST1P2_uc001azl.3_RNA|MST1P2_uc009vox.2_RNA|MST1P2_uc001azm.3_RNA	NR_027504				Homo sapiens cDNA FLJ43241 fis, clone HEART1000010, weakly  similar to Hepatocyte growth factor-like protein precursor.												0						AGAGCCAGGCCTACAGCGGGT	0.577													3	31					0	0	0.000248	0	0
CROCC	9696	broad.mit.edu	37	1	17292570	17292570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:17292570C>T	uc001azt.2	+	29	4721	c.4652C>T	c.(4651-4653)TCG>TTG	p.S1551L	CROCC_uc001azu.2_Missense_Mutation_p.S854L|CROCC_uc001azv.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1551	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCGCAACCTCGAGGGCCAGG	0.622													6	42					0	0	0.001984	0	0
AKR7L	246181	broad.mit.edu	37	1	19596128	19596128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:19596128G>A	uc010ocx.1	-	5	553	c.553C>T	c.(553-555)CCC>TCC	p.P185S	AKR7L_uc010ocy.1_Intron	NM_201252	NP_957704			aflatoxin B1 aldehyde reductase 3 isoform 1												0						CTGAGGCAGGGGAAGAGCTCC	0.592													6	28					0	0	0.001984	0	0
HSPG2	3339	broad.mit.edu	37	1	22186396	22186396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:22186396G>A	uc001bfj.2	-	41	5154	c.5114C>T	c.(5113-5115)CCC>CTC	p.P1705L	HSPG2_uc009vqd.2_Missense_Mutation_p.P1706L	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1705	Ig-like C2-type 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GAAGTAGTGGGGTGGGCTCCC	0.642													10	28					0	0	0.000443	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880571	42880571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:42880571G>A	uc001chi.2	+	5	1240	c.1102G>A	c.(1102-1104)GCC>ACC	p.A368T		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	368					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CACAATGGGGGCCCCACCCTC	0.483													15	83					0	0	0.004990	0	0
LPHN2	23266	broad.mit.edu	37	1	82408687	82408687	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:82408687G>A	uc001dit.3	+	6	613	c.432G>A	c.(430-432)GTG>GTA	p.V144V	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.V144V|LPHN2_uc001div.2_Silent_p.V144V|LPHN2_uc009wcd.2_Silent_p.V144V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	144	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGCAATTGTGGACTCACCAT	0.408													28	100					0	0	0.001512	0	0
LCE1B	353132	broad.mit.edu	37	1	152785221	152785221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:152785221C>T	uc001faq.2	+	1	775	c.299C>T	c.(298-300)TCC>TTC	p.S100F		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	100	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCAGCCCTCCGGGGGCTCC	0.622													17	41					0	0	0.000958	0	0
INTS3	65123	broad.mit.edu	37	1	153732863	153732863	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:153732863C>T	uc009wom.2	+	13	1535	c.1314C>T	c.(1312-1314)TGC>TGT	p.C438C	INTS3_uc001fct.2_Silent_p.C438C|INTS3_uc001fcu.2_Silent_p.C130C|INTS3_uc001fcv.2_Silent_p.C232C|INTS3_uc010peb.1_Silent_p.C232C|INTS3_uc001fcw.2_5'UTR|INTS3_uc010pec.1_Intron	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	439					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTTCATGTGCCGCGTAAGTG	0.527													10	33					0	0	0.000673	0	0
ADAR	103	broad.mit.edu	37	1	154558739	154558739	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:154558739G>A	uc001ffh.2	-	12	3320	c.3120C>T	c.(3118-3120)ATC>ATT	p.I1040I	ADAR_uc001ffj.2_Silent_p.I995I|ADAR_uc001ffi.2_Silent_p.I1014I|ADAR_uc001ffk.2_Silent_p.I745I	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	1040	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCAGCGTAGGATTTTGTCAC	0.552													21	70					0	0	0.002299	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230209	155230209	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:155230209C>T	uc001fjs.2	-	4	553	c.300G>A	c.(298-300)CTG>CTA	p.L100L	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'UTR|SCAMP3_uc001fju.2_Silent_p.L100L|SCAMP3_uc001fjv.2_Silent_p.L100L|SCAMP3_uc001fjt.2_Silent_p.L74L	NM_005698	NP_005689	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3 isoform 1	100	Cytoplasmic (Potential).				post-Golgi vesicle-mediated transport|protein transport	integral to membrane				ovary(3)	3	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGTTTCTTCAGCAGCTCAG	0.622													12	53					0	0	0.000978	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681065	176681065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:176681065G>A	uc001gkz.2	+	12	4910	c.3746G>A	c.(3745-3747)AGG>AAG	p.R1249K	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1249					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						CAGGATGACAGGAGTGAACAG	0.453													19	51					0	0	0.001216	0	0
ASPM	259266	broad.mit.edu	37	1	197115410	197115411	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:197115410_197115411CC>TT	uc001gtu.2	-	1	414_415	c.157_158GG>AA	c.(157-159)GGG>AAG	p.G53K	ASPM_uc001gtv.2_Missense_Mutation_p.G53K|ASPM_uc001gtw.3_5'UTR	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	53					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GAGAACGTCCCCGAAGCAAAGG	0.48													21	149					0	0	0.004672	0	0
CRB1	23418	broad.mit.edu	37	1	197390977	197390977	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:197390977G>A	uc001gtz.2	+	6	2154	c.2019G>A	c.(2017-2019)AAG>AAA	p.K673K	CRB1_uc010poz.1_Silent_p.K604K|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.K561K|CRB1_uc010ppb.1_Silent_p.K673K|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.K154K|CRB1_uc001gub.1_Silent_p.K322K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	673	Extracellular (Potential).|EGF-like 12.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GTGTGAGAAAGGATTGGTGTG	0.478													17	67					0	0	0.004990	0	0
KIF14	9928	broad.mit.edu	37	1	200587607	200587607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:200587607G>A	uc010ppk.1	-	2	684	c.245C>T	c.(244-246)CCT>CTT	p.P82L	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	82	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TACAGGATTAGGGGTAAGGGG	0.388													12	68					0	0	0.002450	0	0
PROX1	5629	broad.mit.edu	37	1	214170185	214170185	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:214170185A>T	uc001hkh.2	+	2	579	c.307A>T	c.(307-309)AAA>TAA	p.K103*	PROX1_uc001hkg.1_Nonsense_Mutation_p.K103*	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	103					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TAACATGAACAAAAATGGTGG	0.483													23	77					0	0	0.002780	0	0
EGLN1	54583	broad.mit.edu	37	1	231509788	231509788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:231509788G>A	uc001huv.2	-	2	4105	c.949C>T	c.(949-951)CCA>TCA	p.P317S	EGLN1_uc001huu.3_Missense_Mutation_p.P19S	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	egl nine homolog 1	317	Fe2OG dioxygenase.		P -> R (in ECYT3; marked decrease in enzyme activity).		negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding				0		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	TCTCCATTTGGATTATCAACA	0.333													9	44					0	0	0.000443	0	0
RYR2	6262	broad.mit.edu	37	1	237947632	237947632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:237947632C>T	uc001hyl.1	+	90	12740	c.12620C>T	c.(12619-12621)TCG>TTG	p.S4207L	RYR2_uc010pya.1_Missense_Mutation_p.S622L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4207					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCAGATCTCGGAGTCGGAC	0.527													13	48					0	0	0.001855	0	0
NLRP3	114548	broad.mit.edu	37	1	247587254	247587254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:247587254G>A	uc001icr.2	+	5	647	c.509G>A	c.(508-510)CGA>CAA	p.R170Q	NLRP3_uc001ics.2_Missense_Mutation_p.R170Q|NLRP3_uc001icu.2_Missense_Mutation_p.R170Q|NLRP3_uc001icw.2_Missense_Mutation_p.R170Q|NLRP3_uc001icv.2_Missense_Mutation_p.R170Q|NLRP3_uc010pyw.1_Missense_Mutation_p.R168Q|NLRP3_uc001ict.1_Missense_Mutation_p.R168Q	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	170					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGCTACACACGACTGCGTCTC	0.552													8	20					0	0	0.003080	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154282	248154282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:248154282C>T	uc001idv.1	+	1	714	c.470C>T	c.(469-471)TCG>TTG	p.S157L	OR2L13_uc001ids.2_Intron	NR_002145				RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53;												0						AAGGCCTATTCGACCTGCAGC	0.493													22	59					0	0	0.002780	0	0
A1CF	29974	broad.mit.edu	37	10	52596009	52596009	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:52596009G>A	uc001jjj.2	-	6	617	c.429C>T	c.(427-429)ATC>ATT	p.I143I	A1CF_uc010qhn.1_Silent_p.I151I|A1CF_uc001jji.2_Silent_p.I143I|A1CF_uc001jjh.2_Silent_p.I151I|A1CF_uc010qho.1_Silent_p.I151I|A1CF_uc009xov.2_Silent_p.I143I	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	143	RRM 2.				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						TGGTTTTTGGGATGCCCCCAA	0.448													12	49					0	0	0.000978	0	0
ANK3	288	broad.mit.edu	37	10	61831846	61831846	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:61831846C>T	uc001jky.2	-	37	8985	c.8793G>A	c.(8791-8793)AGG>AGA	p.R2931R	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2931					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CAACATATTCCCTATATAAGA	0.448													12	36					0	0	0.000978	0	0
MYOF	26509	broad.mit.edu	37	10	95111489	95111489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:95111489C>T	uc001kin.2	-	33	3719	c.3596G>A	c.(3595-3597)GGG>GAG	p.G1199E	MYOF_uc001kio.2_Missense_Mutation_p.G1186E|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1199	Cytoplasmic (Potential).|C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TTGGGGTTCCCCATAGATTTC	0.413													15	46					0	0	0.003163	0	0
SLIT1	6585	broad.mit.edu	37	10	98823948	98823948	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:98823948G>A	uc001kmw.2	-	7	858	c.606C>T	c.(604-606)AAC>AAT	p.N202N	SLIT1_uc009xvh.1_Silent_p.N202N	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	202	LRR 6.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGGCATATGGTTGAAGCTGG	0.577													6	22					0	0	0.003080	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074637	106074637	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:106074637G>A	uc001kye.2	-	2	1246	c.1173C>T	c.(1171-1173)TTC>TTT	p.F391F	ITPRIP_uc001kyf.2_Silent_p.F391F|ITPRIP_uc001kyg.2_Silent_p.F391F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	391						plasma membrane					0						TCGTCCTGAGGAAGTGTCGCT	0.617													17	40					0	0	0.004007	0	0
DOCK1	1793	broad.mit.edu	37	10	128908530	128908530	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:128908530C>T	uc001ljt.2	+	25	2536	c.2472C>T	c.(2470-2472)TTC>TTT	p.F824F	DOCK1_uc010qun.1_Silent_p.F845F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	824					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)		TTACTGAATTCATCCTCAATG	0.418													5	22					0	0	0.000602	0	0
TH	7054	broad.mit.edu	37	11	2189398	2189398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:2189398G>A	uc001lvq.2	-	5	611	c.592C>T	c.(592-594)CCA>TCA	p.P198S	TH_uc001lvp.2_Missense_Mutation_p.P194S|TH_uc001lvr.2_Missense_Mutation_p.P167S|TH_uc010qxj.1_Missense_Mutation_p.P171S|TH_uc001lvs.2_Missense_Mutation_p.P167S|TH_uc001lvt.2_Missense_Mutation_p.P171S|TH_uc009ydh.1_RNA	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	198					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACTTTTCTTGGGAACCAGGGG	0.572													12	55					0	0	0.003163	0	0
APBB1	322	broad.mit.edu	37	11	6422601	6422601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:6422601G>A	uc001mdb.1	-	10	1662	c.1562C>T	c.(1561-1563)TCT>TTT	p.S521F	APBB1_uc001mcz.1_Missense_Mutation_p.S140F|APBB1_uc001mdd.3_Missense_Mutation_p.S299F|APBB1_uc001mda.2_Missense_Mutation_p.S46F|APBB1_uc001mdc.1_Missense_Mutation_p.S519F|APBB1_uc010rab.1_Missense_Mutation_p.S46F|APBB1_uc010rac.1_RNA|APBB1_uc010rad.1_Missense_Mutation_p.S238F	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	521					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CACAAGTTTAGAGTGGTCCAG	0.542													11	34					0	0	0.000978	0	0
NLRP14	338323	broad.mit.edu	37	11	7064040	7064040	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:7064040C>T	uc001mfb.1	+	4	1106	c.783C>T	c.(781-783)TTC>TTT	p.F261F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	261	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTGACAGTTTCGATGAACTGA	0.458													12	87					0	0	0.000978	0	0
MRVI1	10335	broad.mit.edu	37	11	10649302	10649302	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:10649302C>T	uc010rcc.1	-	8	1097	c.711G>A	c.(709-711)GGG>GGA	p.G237G	MRVI1_uc001miw.2_Silent_p.G228G|MRVI1_uc010rcb.1_Silent_p.G229G|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Silent_p.G146G|MRVI1_uc009ygc.1_Silent_p.G146G|MRVI1_uc010rcd.1_Silent_p.G237G|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	210					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGGCCTCATCCCCCTTCTGCT	0.552													18	80					0	0	0.001523	0	0
MICAL2	9645	broad.mit.edu	37	11	12248673	12248673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:12248673C>T	uc001mjz.2	+	15	2278	c.1990C>T	c.(1990-1992)CCA>TCA	p.P664S	MICAL2_uc010rch.1_Missense_Mutation_p.P664S|MICAL2_uc001mka.2_Missense_Mutation_p.P664S|MICAL2_uc010rci.1_Missense_Mutation_p.P664S|MICAL2_uc001mkb.2_Missense_Mutation_p.P664S|MICAL2_uc001mkc.2_Missense_Mutation_p.P664S|MICAL2_uc001mkd.2_Missense_Mutation_p.P493S|MICAL2_uc010rcj.1_Missense_Mutation_p.P66S	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	664						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GAAGAGGACTCCACGGGTAAG	0.453													8	31					0	0	0.004482	0	0
INSC	387755	broad.mit.edu	37	11	15260544	15260544	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:15260544C>T	uc001mly.2	+	11	1504	c.1458C>T	c.(1456-1458)GTC>GTT	p.V486V	INSC_uc001mlz.2_Silent_p.V439V|INSC_uc001mma.2_Silent_p.V439V|INSC_uc010rcs.1_Silent_p.V474V|INSC_uc001mmb.2_Silent_p.V439V|INSC_uc001mmc.2_Silent_p.V397V	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	486					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						GTGAGCGAGTCCAGCAGAAAG	0.597													7	35					0	0	0.004482	0	0
TRIM44	54765	broad.mit.edu	37	11	35685280	35685280	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:35685280C>T	uc001mwi.2	+	1	928	c.621C>T	c.(619-621)CAC>CAT	p.H207H		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	207	B box-type.					intracellular	protein binding|zinc ion binding			skin(1)	1	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TTGGGGCTCACCAGGGCCACC	0.428													16	118					0	0	0.000958	0	0
C11orf9	745	broad.mit.edu	37	11	61533566	61533566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:61533566C>T	uc001nsc.1	+	3	367	c.271C>T	c.(271-273)CCA>TCA	p.P91S	C11orf9_uc001nse.1_Missense_Mutation_p.P82S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	91	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						TGGTCCCCTCCCACCCCCGGG	0.736													4	21					0	0	0.000248	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276908	71276908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:71276908G>A	uc001oqt.1	+	1	300	c.275G>A	c.(274-276)GGG>GAG	p.G92E		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	92	7 X 4 AA repeats of C-C-X-P.					keratin filament				skin(1)	1						GGCTCCAAGGGGGGCTGTGGC	0.677													20	98					0	0	0.002836	0	0
FAT3	120114	broad.mit.edu	37	11	92087388	92087388	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:92087388G>T	uc001pdj.3	+	1	2127	c.2110G>T	c.(2110-2112)GGG>TGG	p.G704W		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	704	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAAGCAAATGGGAAACTGAA	0.398										TCGA Ovarian(4;0.039)			73	426					8.16569e-41	3.73864e-40	0.003610	1	0
PGR	5241	broad.mit.edu	37	11	100922294	100922294	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:100922294G>A	uc001pgh.2	-	5	2961	c.2218C>T	c.(2218-2220)CGA>TGA	p.R740*	PGR_uc001pgg.2_Nonsense_Mutation_p.R121*|PGR_uc001pgi.2_Nonsense_Mutation_p.R638*|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	740	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R740Q(1)		lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGTAAGTTTCGAAAACCTACA	0.323													10	70					0	0	0.000673	0	0
Unknown	0	broad.mit.edu	37	12	92119	92119	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:92119T>C	uc010sdi.1	-	2	219	c.191A>G	c.(190-192)CAC>CGC	p.H64R	uc010sdj.1_RNA					SubName: Full=DEAD/H box polypeptide 11 like 11;																		CGCCAGGCAGTGGTGCAGCTG	0.592													3	29					0	0	0.004672	0	0
TULP3	7289	broad.mit.edu	37	12	3018702	3018702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:3018702C>T	uc010seh.1	+	2	130	c.49C>T	c.(49-51)CAT>TAT	p.H17Y	TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.H17Y|TULP3_uc010sei.1_5'UTR	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	17					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGTGTCTTCCATGAAGAAAT	0.363													29	100					0	0	0.001271	0	0
CD163L1	283316	broad.mit.edu	37	12	7527997	7527997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:7527997G>A	uc001qsy.2	-	11	2907	c.2881C>T	c.(2881-2883)CGT>TGT	p.R961C	CD163L1_uc010sge.1_Missense_Mutation_p.R971C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	961	SRCR 9.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CCCCACACACGAACACTTCTT	0.483													9	44					0	0	0.004482	0	0
LOC653113	653113	broad.mit.edu	37	12	8384397	8384397	+	RNA	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:8384397C>T	uc010sgk.1	-	5		c.1391G>A				NR_024254				Homo sapiens family with sequence similarity 86, member A pseudogene (LOC653113), non-coding RNA.												0						CCCCAGGGCCCCTGCTGTCCT	0.587													4	34					0	0	0.000248	0	0
AICDA	57379	broad.mit.edu	37	12	8757480	8757480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:8757480C>T	uc001qur.2	-	4	545	c.466G>A	c.(466-468)GAA>AAA	p.E156K	AICDA_uc001qup.1_Missense_Mutation_p.E141K|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	156					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung SC(5;0.184)					AAAGTTCTTTCGTGGTTTTCT	0.423									Immune_Deficiency_with_Hyper-IgM				26	137					0	0	0.003954	0	0
A2ML1	144568	broad.mit.edu	37	12	8990983	8990983	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:8990983C>G	uc001quz.3	+	9	1005	c.907C>G	c.(907-909)CTC>GTC	p.L303V		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	147						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						CACCTTTGACCTCATTGGATA	0.453													24	94					0	0	0.003954	0	0
GRIN2B	2904	broad.mit.edu	37	12	13722818	13722818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:13722818C>T	uc001rbt.2	-	11	2484	c.2305G>A	c.(2305-2307)GAT>AAT	p.D769N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	769	Extracellular (Potential).				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)	CACCCAGAATCTTTTTGGATG	0.517													10	58					0	0	0.000673	0	0
ALG10B	144245	broad.mit.edu	37	12	38714623	38714623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:38714623C>T	uc001rln.3	+	3	1169	c.1030C>T	c.(1030-1032)CAT>TAT	p.H344Y	ALG10B_uc001rlo.3_Missense_Mutation_p.H314Y|ALG10B_uc010skk.1_Missense_Mutation_p.H284Y	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	344	Extracellular (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CACTTATGCTCATAAATACTT	0.313													29	130					0	0	0.002445	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601355	46601355	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:46601355C>T	uc001rpa.2	-	7	696	c.438G>A	c.(436-438)GGG>GGA	p.G146G	SLC38A1_uc001rpb.2_Silent_p.G146G|SLC38A1_uc001rpc.2_Silent_p.G146G|SLC38A1_uc001rpd.2_Silent_p.G146G|SLC38A1_uc001rpe.2_Silent_p.G146G|SLC38A1_uc010slh.1_Silent_p.G119G|SLC38A1_uc009zkj.1_Silent_p.G146G	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	146	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)			TTACGAACTTCCCTGTGGTGC	0.408													22	88					0	0	0.002780	0	0
PFKM	5213	broad.mit.edu	37	12	48537892	48537892	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:48537892G>A	uc001rrc.2	+	20	2114	c.1944G>A	c.(1942-1944)GGG>GGA	p.G648G	PFKM_uc001rra.1_Silent_p.G333G|PFKM_uc001rrb.1_Silent_p.G719G|PFKM_uc001rrd.2_Silent_p.G333G|PFKM_uc001rre.1_Silent_p.G648G|PFKM_uc001rrg.1_Silent_p.G617G	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	648					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						CTGAGGAGGGGAAGGGCATCT	0.502													34	113					0	0	0.004289	0	0
ITGA5	3678	broad.mit.edu	37	12	54796799	54796799	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:54796799G>A	uc001sga.2	-	19	2018	c.1950C>T	c.(1948-1950)ATC>ATT	p.I650I		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	650	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						CAGGCACACAGATGTTGTCTT	0.552													21	63					0	0	0.002780	0	0
MYO1A	4640	broad.mit.edu	37	12	57423022	57423022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:57423022C>T	uc001smw.3	-	27	3142	c.2899G>A	c.(2899-2901)GGG>AGG	p.G967R	MYO1A_uc010sqz.1_Missense_Mutation_p.G805R|MYO1A_uc009zpd.2_Missense_Mutation_p.G967R	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	967					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						AGGAAGTCCCCCTTGGAGCCC	0.527													12	61					0	0	0.000978	0	0
NR1H4	9971	broad.mit.edu	37	12	100904705	100904705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:100904705C>T	uc001tht.1	+	2	287	c.259C>T	c.(259-261)CCT>TCT	p.P87S	NR1H4_uc001thp.1_Missense_Mutation_p.P77S|NR1H4_uc001thq.1_Missense_Mutation_p.P77S|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.P77S|NR1H4_uc010svk.1_Missense_Mutation_p.P77S|NR1H4_uc001ths.1_Missense_Mutation_p.P87S	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	87					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						CCCCCAGCAGCCTGAAGAGTG	0.478													15	64					0	0	0.002450	0	0
ANO4	121601	broad.mit.edu	37	12	101493391	101493391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:101493391G>A	uc010svm.1	+	22	2614	c.2042G>A	c.(2041-2043)CGA>CAA	p.R681Q	ANO4_uc001thw.2_Missense_Mutation_p.R646Q|ANO4_uc001thx.2_Missense_Mutation_p.R681Q|ANO4_uc001thy.2_Missense_Mutation_p.R201Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	681	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						AGAAAAGTACGACAAGAACAT	0.353										HNSCC(74;0.22)			20	71					0	0	0.002299	0	0
TRPC4	7223	broad.mit.edu	37	13	38266446	38266446	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr13:38266446C>T	uc001uws.2	-	4	1159	c.924G>A	c.(922-924)CAG>CAA	p.Q308Q	TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Silent_p.Q308Q|TRPC4_uc010tey.1_Silent_p.Q308Q|TRPC4_uc010abw.2_Silent_p.Q135Q|TRPC4_uc010abx.2_Silent_p.Q308Q|TRPC4_uc010aby.2_Silent_p.Q308Q	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	308	Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATGCCAGCAGCTGTTGACAAT	0.443													5	25					0	0	0.001168	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706224	41706224	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr13:41706224C>G	uc001uxu.1	-	1	713	c.424G>C	c.(424-426)GAG>CAG	p.E142Q	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E76Q|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	142							protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TACAGGCGCTCCACGTTGGCC	0.612													9	36					0	0	0.000673	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706228	41706228	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr13:41706228G>A	uc001uxu.1	-	1	709	c.420C>T	c.(418-420)AAC>AAT	p.N140N	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.N74N|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	140							protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GGCGCTCCACGTTGGCCTCAC	0.607													7	35					0	0	0.004482	0	0
Unknown	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr14:19857036A>G	uc001vvq.1	-	5		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373													5	122					0	0	0.000602	0	0
DHRS4L1	728635	broad.mit.edu	37	14	24517982	24517982	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr14:24517982C>T	uc010alc.2	+	8	637	c.637C>T	c.(637-639)CTA>TTA	p.L213L	DHRS4L1_uc010tnu.1_RNA	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	213							binding|oxidoreductase activity				0						GGTGAACTGCCTAGCACCTGG	0.527													33	77					0	0	0.004289	0	0
Unknown	0	broad.mit.edu	37	15	22473007	22473007	+	RNA	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:22473007G>A	uc001yuj.1	-	2		c.264C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H6.																		CTACTGATATGGTGACTCGAC	0.582													29	277					0	0	0.001786	0	0
TRPM7	54822	broad.mit.edu	37	15	50853929	50853929	+	Silent	SNP	A	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:50853929A>G	uc001zyt.3	-	39	5808	c.5544T>C	c.(5542-5544)CCT>CCC	p.P1848P	TRPM7_uc001zyr.2_Silent_p.P285P	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1848	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TGGAATTTCCAGGCTGAAGAT	0.348													3	48					0	0	0.004672	0	0
HCN4	10021	broad.mit.edu	37	15	73616490	73616490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:73616490C>T	uc002avp.2	-	7	3077	c.2083G>A	c.(2083-2085)GAG>AAG	p.E695K		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	695	Cytoplasmic (Potential).|cAMP.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		ATGGGGTACTCCTCCAGCACC	0.687													17	67					0	0	0.001523	0	0
WDR61	80349	broad.mit.edu	37	15	78580681	78580681	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:78580681G>A	uc002bdn.2	-	8	682	c.606C>T	c.(604-606)TCC>TCT	p.S202S	WDR61_uc002bdo.2_Silent_p.S202S	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	WD repeat domain 61	202	WD 5.						protein binding			ovary(1)|skin(1)	2						CAAGGAGCTGGGAGTCCGGGG	0.488													11	53					0	0	0.002450	0	0
CPEB1	64506	broad.mit.edu	37	15	83226629	83226629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:83226629G>A	uc002bit.2	-	4	804	c.667C>T	c.(667-669)CCC>TCC	p.P223S	CPEB1_uc002biq.2_Missense_Mutation_p.P88S|CPEB1_uc002bir.2_Missense_Mutation_p.P88S|CPEB1_uc002bis.2_Missense_Mutation_p.P88S|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Missense_Mutation_p.P166S|CPEB1_uc002biu.2_Missense_Mutation_p.P190S|CPEB1_uc010uof.1_Missense_Mutation_p.P88S|CPEB1_uc002biv.2_Missense_Mutation_p.P163S|CPEB1_uc002bip.2_5'Flank	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	163					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTAACTGAGGGTGCTGGAAAC	0.567													21	82					0	0	0.001523	0	0
POLG	5428	broad.mit.edu	37	15	89861875	89861875	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:89861875C>A	uc002bns.3	-	21	3661	c.3379G>T	c.(3379-3381)GGG>TGG	p.G1127W	POLG_uc002bnr.3_Missense_Mutation_p.G1127W	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	1127					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CAGAAGCGCCCATCTATGGCA	0.562								DNA_polymerases_(catalytic_subunits)					6	91					3.59834e-05	0.000161136	0.001168	1	0
NOMO2	283820	broad.mit.edu	37	16	18532173	18532173	+	Silent	SNP	A	G	G	rs143804602	by1000genomes	TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:18532173A>G	uc002dfe.2	-	19	2259	c.2187T>C	c.(2185-2187)GGT>GGC	p.G729G	NOMO2_uc002dff.2_Silent_p.G729G|NOMO2_uc010bvx.2_Silent_p.G562G	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	nodal modulator 2 isoform 1	729	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			skin(1)	1						TTCTTTCTTCACCTTCCTCAT	0.557													6	251					0	0	0.003163	0	0
TMC5	79838	broad.mit.edu	37	16	19471642	19471642	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:19471642G>A	uc002dgc.3	+	6	1883	c.1134G>A	c.(1132-1134)GAG>GAA	p.E378E	TMC5_uc010vaq.1_Silent_p.E378E|TMC5_uc002dgb.3_Silent_p.E378E|TMC5_uc010var.1_Silent_p.E378E|TMC5_uc002dgd.1_Silent_p.E132E|TMC5_uc002dge.3_Silent_p.E132E|TMC5_uc002dgf.3_Silent_p.E40E|TMC5_uc002dgg.3_Silent_p.E19E	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	378	Extracellular (Potential).					integral to membrane				skin(1)	1						CCATGGAAGAGAAAAGGAACC	0.388													6	28					0	0	0.001168	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576154	20576154	+	Missense_Mutation	SNP	C	T	T	rs144570025		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:20576154C>T	uc002dhj.3	-	3	224	c.14G>A	c.(13-15)CGA>CAA	p.R5Q	ACSM2B_uc002dhk.3_Missense_Mutation_p.R5Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R5Q	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	5					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						CTGAACTTTTCGCAGCCAATG	0.498													8	43					0	0	0.000673	0	0
MYST1	84148	broad.mit.edu	37	16	31131665	31131665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:31131665C>T	uc002eay.2	+	3	310	c.292C>T	c.(292-294)CGG>TGG	p.R98W	MYST1_uc002eax.2_Missense_Mutation_p.R98W	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	98	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						TACAGTTAACCGGCGGCTGGA	0.577													17	57					0	0	0.000958	0	0
Unknown	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:32070612A>C	uc002ecv.1	+	1		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:TRH1-22.																		GGTCTCCTGCAAGGCTTCTGG	0.552													4	47					0	0	0.000248	0	0
NUP93	9688	broad.mit.edu	37	16	56857657	56857657	+	Silent	SNP	A	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:56857657A>C	uc002eka.2	+	8	814	c.693A>C	c.(691-693)ACA>ACC	p.T231T	NUP93_uc002ekb.2_Silent_p.T108T|NUP93_uc010vhi.1_Silent_p.T108T	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	231					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						AACAAATGACAGACGTGTTGT	0.498													23	105					0	0	0.002780	0	0
CCDC135	84229	broad.mit.edu	37	16	57756701	57756701	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:57756701C>T	uc002emi.2	+	10	1445	c.1356C>T	c.(1354-1356)TAC>TAT	p.Y452Y	CCDC135_uc002emj.2_Silent_p.Y452Y|CCDC135_uc002emk.2_Silent_p.Y387Y	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	452						cytoplasm				central_nervous_system(1)	1						GGGCCCCGTACCTCAATAGCA	0.592													24	83					0	0	0.005443	0	0
INPP5K	51763	broad.mit.edu	37	17	1399170	1399170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:1399170G>A	uc002fsr.2	-	12	1683	c.1294C>T	c.(1294-1296)CCG>TCG	p.P432S	INPP5K_uc002fss.2_Missense_Mutation_p.P356S|INPP5K_uc002fsq.2_Missense_Mutation_p.P356S|INPP5K_uc010cjr.2_Missense_Mutation_p.P356S|INPP5K_uc010vql.1_Missense_Mutation_p.P340S|INPP5K_uc010vqm.1_Missense_Mutation_p.P336S	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	432	Required for ruffle localization.				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0						GAGCCAGGCGGGATCTGCAGG	0.627													6	32					0	0	0.001168	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686323	4686323	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:4686323G>A	uc002fyw.1	+	4	601	c.570G>A	c.(568-570)AGG>AGA	p.R190R		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	190	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						GCGATTGCAGGAAAAAACAGG	0.562													10	65					0	0	0.006122	0	0
USP6	9098	broad.mit.edu	37	17	5042836	5042836	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:5042836C>T	uc002gau.1	+	22	3595	c.1365C>T	c.(1363-1365)CCC>CCT	p.P455P	USP6_uc002gav.1_Silent_p.P455P|USP6_uc010ckz.1_Silent_p.P138P|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	455					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						AGTCAATGCCCCGGCTCCCAA	0.607			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								17	58					0	0	0.004990	0	0
ACACA	31	broad.mit.edu	37	17	35545396	35545397	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:35545396_35545397CC>TT	uc002hnm.2	-	39	4676_4677	c.4485_4486GG>AA	c.(4483-4488)ATGGTA>ATAATA	p.1495_1496MV>II	ACACA_uc002hnk.2_Missense_Mutation_p.1417_1418MV>II|ACACA_uc002hnl.2_Missense_Mutation_p.1437_1438MV>II|ACACA_uc002hnn.2_Missense_Mutation_p.1495_1496MV>II|ACACA_uc002hno.2_Missense_Mutation_p.1532_1533MV>II|ACACA_uc010cuy.2_Missense_Mutation_p.189_190MV>II	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1495_1496					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACCGCATTACCATGCTCCGCA	0.465													20	78					0	0	0.004672	0	0
HNF1B	6928	broad.mit.edu	37	17	36104852	36104852	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:36104852G>A	uc002hok.3	-	1	245	c.24C>T	c.(22-24)CTC>CTT	p.L8L	HNF1B_uc010wdi.1_Silent_p.L8L	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	8	Dimerization (By similarity).				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTTCTTGCTGGAGCGACGTGA	0.612									Hereditary_Prostate_Cancer				63	201					0	0	0.003610	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:39183145A>G	uc002hvu.2	-	1	310	c.263T>C	c.(262-264)ATC>ACC	p.I88T		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632													4	45					0	0	0.001168	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316833	39316833	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:39316833G>A	uc002hwc.2	-	1	151	c.111C>T	c.(109-111)CGC>CGT	p.R37R		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	37	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].|4.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGCTGGGGCGGCAGCAGG	0.652													16	81					0	0	0.004007	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40840998	40840998	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:40840998C>T	uc002iay.2	+	10	1777	c.1561C>T	c.(1561-1563)CTG>TTG	p.L521L	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	521	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAACCTGACTCTGGTGGAGGG	0.562													14	76					0	0	0.002450	0	0
AOC3	8639	broad.mit.edu	37	17	41004605	41004605	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:41004605C>T	uc002ibv.2	+	1	1405	c.1245C>T	c.(1243-1245)TTC>TTT	p.F415F		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	415	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACTGGCACTTCCTTTTGGAGT	0.592													15	62					0	0	0.003163	0	0
Unknown	0	broad.mit.edu	37	17	45126904	45126904	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:45126904C>T	uc010wkj.1	+	2	456	c.102C>T	c.(100-102)GGC>GGT	p.G34G	uc010wkl.1_RNA					SubName: Full=Putative uncharacterized protein LRRC37A3;																		TCCTCATGGGCCCAAGGAGCA	0.502													30	102					0	0	0.001271	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342311	60342311	+	RNA	SNP	G	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:60342311G>T	uc010woz.1	-	14		c.1818C>A				NR_027486				Homo sapiens cDNA FLJ60189 complete cds, highly similar to TBC1 domain family member 3.												0						AAAACGAGGAGGCGAAGCTTG	0.458													10	108					7.93312e-07	3.58395e-06	0.002450	1	0
SOCS3	9021	broad.mit.edu	37	17	76354760	76354760	+	Silent	SNP	T	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:76354760T>A	uc002jvl.2	-	2	833	c.417A>T	c.(415-417)CCA>CCT	p.P139P		NM_003955	NP_003946	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	139	SH2.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GTTCAGTAGGTGGCGAGGGGA	0.682													9	38					0	0	0.000443	0	0
DTNA	1837	broad.mit.edu	37	18	32457681	32457681	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr18:32457681A>C	uc010dmn.1	+	18	1824	c.1823_splice	c.e18-2	p.S608_splice	DTNA_uc002kxw.2_Splice_Site_p.S551_splice|DTNA_uc010dmj.2_Splice_Site_p.S548_splice|DTNA_uc002kxz.2_Splice_Site_p.S555_splice|DTNA_uc002kxy.2_Splice_Site_p.S548_splice|DTNA_uc010xby.1_Splice_Site_p.S298_splice|DTNA_uc010xbz.1_Splice_Site_p.S317_splice|DTNA_uc010xca.1_Splice_Site_p.S260_splice|DTNA_uc002kye.2_Splice_Site_p.S256_splice	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1						neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						TCTTCCCTGAAGGTTCAAGAA	0.348													3	34					0	0	0.004672	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558795	61558795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr18:61558795G>A	uc010xeu.1	+	3	450	c.117G>A	c.(115-117)ATG>ATA	p.M39I	SERPINB2_uc002ljo.2_Missense_Mutation_p.M39I|SERPINB2_uc010dqh.2_5'UTR	NM_001143818	NP_001137290	P05120	PAI2_HUMAN	serine (or cysteine) proteinase inhibitor, clade	39					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			lung(1)|skin(1)	2		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CGTCCACCATGGCCATGGTCT	0.542													8	46					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9074606	9074606	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:9074606G>A	uc002mkp.2	-	3	13044	c.12840C>T	c.(12838-12840)ATC>ATT	p.I4280I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4282	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTCCCCCATGATGTGGGAGG	0.498													17	53					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9090533	9090533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:9090533C>T	uc002mkp.2	-	1	1486	c.1282G>A	c.(1282-1284)GAA>AAA	p.E428K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	428	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTTCTGTTTCCTTTCCACTC	0.502													14	79					0	0	0.002450	0	0
ZNF700	90592	broad.mit.edu	37	19	12060222	12060222	+	Silent	SNP	T	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:12060222T>A	uc002msu.2	+	4	1509	c.1383T>A	c.(1381-1383)CTT>CTA	p.L461L	ZNF700_uc010xme.1_Silent_p.L479L|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	461	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCTCACACCTTCGAGTGCATG	0.468													5	32					0	0	0.001168	0	0
DHPS	1725	broad.mit.edu	37	19	12791116	12791116	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:12791116C>T	uc002muh.1	-	2	328	c.231G>A	c.(229-231)CTG>CTA	p.L77L	DHPS_uc002muf.1_5'UTR|DHPS_uc002mug.1_Silent_p.L35L|DHPS_uc002mui.1_Silent_p.L77L|DHPS_uc002muj.1_Silent_p.L77L|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	77					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)	CATCCTGTGACAGTGGTTCCA	0.537													24	113					0	0	0.002780	0	0
JUND	3727	broad.mit.edu	37	19	18391905	18391905	+	Silent	SNP	G	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:18391905G>T	uc002nip.2	-	1	528	c.390C>A	c.(388-390)GCC>GCA	p.A130A	hsa-mir-3188|MI0014232_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	jun D proto-oncogene	130					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						GCTCCTCGCTGGCCGCCACCT	0.582													7	25					0.000157383	0.000701696	0.003080	1	0
NCAN	1463	broad.mit.edu	37	19	19349170	19349170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:19349170C>T	uc002nlz.2	+	11	3458	c.3359C>T	c.(3358-3360)TCC>TTC	p.S1120F	NCAN_uc010ecc.1_Missense_Mutation_p.S684F|NCAN_uc002nma.2_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1120	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CGCCGCCGCTCCGGCCACCTG	0.652													23	105					0	0	0.004656	0	0
ZNF285	26974	broad.mit.edu	37	19	44891842	44891842	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:44891842A>G	uc002ozd.3	-	4	652	c.565T>C	c.(565-567)TCA>CCA	p.S189P	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.S196P	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						TGATCACATGAGGTCCAACTG	0.453													3	98					0	0	0.004672	0	0
HIF3A	64344	broad.mit.edu	37	19	46838216	46838216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:46838216C>T	uc002peh.2	+	14	1914	c.1885C>T	c.(1885-1887)CCA>TCA	p.P629S	HIF3A_uc002pej.1_Missense_Mutation_p.P416S|HIF3A_uc002pek.2_Missense_Mutation_p.P573S|HIF3A_uc010xxy.1_Missense_Mutation_p.P560S|HIF3A_uc002pel.2_Missense_Mutation_p.P627S|HIF3A_uc010xxz.1_Missense_Mutation_p.P578S	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCAGCACCCCACTCCTGAA	0.592													17	38					0	0	0.006122	0	0
PIH1D1	55011	broad.mit.edu	37	19	49949823	49949823	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:49949823G>A	uc002pns.2	-	8	1100	c.816C>T	c.(814-816)TTC>TTT	p.F272F	uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	272					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TCTTCCGGTGGAAGGCTGCCT	0.632													18	52					0	0	0.006122	0	0
MED25	81857	broad.mit.edu	37	19	50333967	50333967	+	Silent	SNP	T	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:50333967T>A	uc002ppw.1	+	9	977	c.924T>A	c.(922-924)CCT>CCA	p.P308P	MED25_uc010ybe.1_Silent_p.P95P|MED25_uc002ppx.1_Silent_p.P89P	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	308	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCATCACCCCTCTCCAACAAG	0.662													7	43					0	0	0.004482	0	0
NR1H2	7376	broad.mit.edu	37	19	50881459	50881460	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:50881459_50881460CC>TT	uc010enw.2	+	5	511_512	c.235_236CC>TT	c.(235-237)CCG>TTG	p.P79L	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.P79L|NR1H2_uc002psa.3_Intron	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	79					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGGCCCAGCCCCGAAGATGCTG	0.604													39	150					0	0	0.004672	0	0
LILRA5	353514	broad.mit.edu	37	19	54823255	54823255	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:54823255C>T	uc002qfe.2	-	4	408	c.288G>A	c.(286-288)AAG>AAA	p.K96K	LILRA5_uc002qff.2_Silent_p.K84K|LILRA5_uc010yev.1_Silent_p.K96K|LILRA5_uc010yew.1_Silent_p.K84K|LILRA5_uc002qfh.1_Silent_p.K84K|LILRA5_uc002qfg.1_Silent_p.K96K	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	96	Extracellular (Potential).|Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCTTGTTCTTGGGCTCCA	0.587													43	164					0	0	0.002852	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55049184	55049184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:55049184G>A	uc010erm.2	+	2	262	c.250G>A	c.(250-252)GAA>AAA	p.E84K	KIR3DX1_uc010yfa.1_RNA|KIR3DX1_uc010yfb.1_RNA|KIR3DX1_uc010yfc.1_RNA|KIR3DX1_uc010yfd.1_RNA					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1, mRNA (cDNA clone IMAGE:4849085).											ovary(1)	1				GBM - Glioblastoma multiforme(193;0.099)		TTTTTCCTAGGAAACACTAAG	0.343													17	55					0	0	0.006122	0	0
LILRA1	11024	broad.mit.edu	37	19	55107797	55107797	+	Missense_Mutation	SNP	C	T	T	rs143023552	byFrequency	TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:55107797C>T	uc002qgh.1	+	7	1284	c.1102C>T	c.(1102-1104)CGT>TGT	p.R368C	LILRA2_uc010yfg.1_Missense_Mutation_p.R366C|LILRA1_uc010yfh.1_Missense_Mutation_p.R368C	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	368	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TGCCCCCCTCCGTCTCAGATC	0.577													16	103					0	0	0.006122	0	0
USP29	57663	broad.mit.edu	37	19	57640197	57640197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:57640197C>T	uc002qny.2	+	4	510	c.154C>T	c.(154-156)CAG>TAG	p.Q52*		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	52					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAATTTTTCAGCTGAGCAA	0.338													7	23					0	0	0.003080	0	0
CEP68	23177	broad.mit.edu	37	2	65299569	65299569	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:65299569T>C	uc002sdl.3	+	3	1553	c.1339T>C	c.(1339-1341)TCG>CCG	p.S447P	CEP68_uc002sdj.2_Missense_Mutation_p.S447P|CEP68_uc010yqb.1_Missense_Mutation_p.S447P|CEP68_uc002sdk.3_Missense_Mutation_p.S447P|CEP68_uc010yqc.1_Missense_Mutation_p.S447P|CEP68_uc010yqd.1_Missense_Mutation_p.S447P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	447					centrosome organization	centrosome				skin(1)	1						AGGGTGGCCCTCGCCCAGGCC	0.607													8	34					0	0	0.000443	0	0
POLR1A	25885	broad.mit.edu	37	2	86308727	86308727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:86308727G>A	uc002sqs.2	-	8	1299	c.920C>T	c.(919-921)TCA>TTA	p.S307L	POLR1A_uc002sqv.2_Missense_Mutation_p.S307L	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	307					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GTATTACCTTGAGGGCGGCAC	0.423													9	30					0	0	0.004482	0	0
Unknown	0	broad.mit.edu	37	2	89495652	89495652	+	RNA	SNP	A	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:89495652A>C	uc010ytr.1	-	25		c.3209T>G			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																		TCTGTCCCTGACCCGCTGCCA	0.507													6	31					0	0	0.004482	0	0
NEB	4703	broad.mit.edu	37	2	152512464	152512464	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:152512464T>C	uc010fnx.2	-	50	6760	c.6569A>G	c.(6568-6570)GAG>GGG	p.E2190G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2190	Nebulin 58.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGCCTTCTCCACTTCCAG	0.433													20	63					0	0	0.000958	0	0
SLC4A10	57282	broad.mit.edu	37	2	162627522	162627522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:162627522C>T	uc002ubx.3	+	2	272	c.88C>T	c.(88-90)CGT>TGT	p.R30C	SLC4A10_uc010fpa.1_Missense_Mutation_p.R42C|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R30C|SLC4A10_uc010zcs.1_Missense_Mutation_p.R41C	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	30	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						AGGTGGAACTCGTTCTATTCT	0.328													5	24					0	0	0.001168	0	0
SCN2A	6326	broad.mit.edu	37	2	166164425	166164425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:166164425C>T	uc002udc.2	+	4	744	c.454C>T	c.(454-456)CCA>TCA	p.P152S	SCN2A_uc002udd.2_Missense_Mutation_p.P152S|SCN2A_uc002ude.2_Missense_Mutation_p.P152S	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	152	I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	GAGTAACCCTCCAGACTGGAC	0.348													37	195					0	0	0.001951	0	0
METTL8	79828	broad.mit.edu	37	2	172187131	172187131	+	Silent	SNP	A	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:172187131A>G	uc010zdo.1	-	7	939	c.798T>C	c.(796-798)TTT>TTC	p.F266F	METTL8_uc002ugu.3_Silent_p.F266F|METTL8_uc002ugv.3_Silent_p.F266F|METTL8_uc002ugt.3_Silent_p.F266F|METTL8_uc002ugs.3_Silent_p.F216F|METTL8_uc010zdp.1_Silent_p.F221F	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	methyltransferase like 8	266							methyltransferase activity			ovary(1)	1						TCCCATCTGGAAAAGGGTAAG	0.433													3	39					0	0	0.004672	0	0
PDE11A	50940	broad.mit.edu	37	2	178592803	178592803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:178592803C>T	uc002ulq.2	-	11	2204	c.1886G>A	c.(1885-1887)CGG>CAG	p.R629Q	PDE11A_uc002ulp.2_Missense_Mutation_p.R185Q|PDE11A_uc002ulr.2_Missense_Mutation_p.R379Q|PDE11A_uc002uls.1_Missense_Mutation_p.R271Q|PDE11A_uc002ult.1_Missense_Mutation_p.R379Q|PDE11A_uc002ulu.1_Missense_Mutation_p.R271Q	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	629					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CATGAACATCCGGAGAGCAGC	0.418									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				16	39					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179645974	179645974	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:179645974T>G	uc010zfg.1	-	21	3621	c.3397A>C	c.(3397-3399)AAC>CAC	p.N1133H	TTN_uc010zfh.1_Missense_Mutation_p.N1087H|TTN_uc010zfi.1_Missense_Mutation_p.N1087H|TTN_uc010zfj.1_Missense_Mutation_p.N1087H|TTN_uc002unb.2_Missense_Mutation_p.N1133H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1133							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)			GTTTGTTTGTTGTAACTCACT	0.343													4	43					0	0	0.000602	0	0
CCDC141	285025	broad.mit.edu	37	2	179720181	179720182	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:179720181_179720182CC>TT	uc002unf.1	-	9	1284_1285	c.1227_1228GG>AA	c.(1225-1230)TTGGAA>TTAAAA	p.E410K		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	410							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCATGACTTCCAAAAGGACAT	0.342													10	81					0	0	0.004672	0	0
ANKAR	150709	broad.mit.edu	37	2	190554683	190554683	+	Silent	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:190554683T>C	uc002uqw.1	+	2	819	c.819T>C	c.(817-819)CCT>CCC	p.P273P	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Silent_p.P344P	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	344						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCTTCAGCCTTTTTCAGGTA	0.289													3	90					0	0	0.004672	0	0
DNAH7	56171	broad.mit.edu	37	2	196651856	196651856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:196651856G>A	uc002utj.3	-	58	10857	c.10756C>T	c.(10756-10758)CAT>TAT	p.H3586Y	DNAH7_uc002uti.3_Missense_Mutation_p.H69Y	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3586	AAA 6 (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						ACCAAAGCATGAAAGAAACAC	0.388													12	49					0	0	0.000978	0	0
COL4A4	1286	broad.mit.edu	37	2	227945177	227945177	+	Silent	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:227945177T>C	uc010zlt.1	-	24	2439	c.1785A>G	c.(1783-1785)AAA>AAG	p.K595K		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	595	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463													3	126					0	0	0.000248	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228545	228228545	+	Silent	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:228228545T>C	uc002vpb.2	-	4	623	c.585A>G	c.(583-585)CTA>CTG	p.L195L		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	195	Helical; (Potential).					integral to membrane|plasma membrane					0		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CAACAAGCAATAGACCTAAAA	0.448													7	86					0	0	0.001984	0	0
ECEL1	9427	broad.mit.edu	37	2	233347174	233347174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:233347174G>A	uc002vsv.2	-	12	1955	c.1750C>T	c.(1750-1752)CCC>TCC	p.P584S	ECEL1_uc010fya.1_Missense_Mutation_p.P582S|ECEL1_uc010fyb.1_Missense_Mutation_p.P291S	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	584	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATGCCCGCGGGGAACACTACA	0.607													33	118					0	0	0.004289	0	0
FOXA2	3170	broad.mit.edu	37	20	22562615	22562615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:22562615G>A	uc002wsn.2	-	3	1437	c.1247C>T	c.(1246-1248)TCC>TTC	p.S416F	FOXA2_uc002wsm.2_Missense_Mutation_p.S422F	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	416	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					AGGCATGGGGGAACCGTAGCC	0.552													23	75					0	0	0.004656	0	0
C20orf71	128861	broad.mit.edu	37	20	31814777	31814777	+	Silent	SNP	G	A	A	rs139539413		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:31814777G>A	uc002wyr.2	+	6	871	c.663G>A	c.(661-663)GTG>GTA	p.V221V	C20orf71_uc002wys.2_Silent_p.V185V	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	short long palate, lung and nasal epithelium	221						extracellular region	lipid binding	p.V221V(1)		ovary(1)|skin(1)	2						AGCTGGATGTGAAACTGTTGA	0.542													14	69					0	0	0.002450	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872823	51872823	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:51872823C>T	uc002xwo.2	+	2	3782	c.2826C>T	c.(2824-2826)ATC>ATT	p.I942I		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	942	C2H2-type 4.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CTACCTACATCAGTCACTTAG	0.493													15	136					0	0	0.002450	0	0
ZNF217	7764	broad.mit.edu	37	20	52193137	52193137	+	Silent	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:52193137T>C	uc002xwq.3	-	3	2437	c.2166A>G	c.(2164-2166)CCA>CCG	p.P722P	ZNF217_uc010gij.1_Silent_p.P714P	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	722					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)			TTAAAACTTCTGGATAAAATG	0.408													17	187					0	0	0.004990	0	0
PHACTR3	116154	broad.mit.edu	37	20	58322850	58322850	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:58322850G>A	uc002yau.2	+	3	785	c.318G>A	c.(316-318)GAG>GAA	p.E106E	PHACTR3_uc002yat.2_Silent_p.E103E|PHACTR3_uc010zzw.1_Silent_p.E65E|PHACTR3_uc002yav.2_Silent_p.E65E|PHACTR3_uc002yaw.2_Silent_p.E65E|PHACTR3_uc002yax.2_Silent_p.E65E	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	106	RPEL 1.					nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGGCCGAGAGGAGCTCATCA	0.592													140	208					0	0	0.003610	0	0
COL9A3	1299	broad.mit.edu	37	20	61450607	61450608	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:61450607_61450608CC>TT	uc002ydm.2	+	4	220_221	c.217_218CC>TT	c.(217-219)CCA>TTA	p.P73L		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	73	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					GCCGGGGAAACCAGGAGAGGCT	0.693													21	54					0	0	0.004672	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120337	62120338	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:62120337_62120338CC>TT	uc002yfd.1	-	6	1298_1299	c.1197_1198GG>AA	c.(1195-1200)GCGGCC>GCAACC	p.A400T	EEF1A2_uc002yfe.1_Missense_Mutation_p.A400T|EEF1A2_uc010gkg.1_Intron	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	400						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCCACGATGGCCGCGTCTCCAG	0.639													127	39					0	0	0.004672	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329813	62329813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:62329813C>T	uc002yfy.2	+	7	1234	c.800C>T	c.(799-801)GCG>GTG	p.A267V	RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Missense_Mutation_p.A267V	NM_032945	NP_116563	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily,	267					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CTCCTGGGGGCGCAGGACGGG	0.761													25	12					0	0	0.004656	0	0
SUSD2	56241	broad.mit.edu	37	22	24583578	24583578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr22:24583578C>T	uc002zzn.1	+	12	1975	c.1931C>T	c.(1930-1932)TCC>TTC	p.S644F		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	644	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ACCTACGATTCCTGGTTCCTG	0.622													13	61					0	0	0.003163	0	0
RFPL2	10739	broad.mit.edu	37	22	32586943	32586943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr22:32586943G>A	uc003amg.3	-	5	1889	c.953C>T	c.(952-954)TCC>TTC	p.S318F	RFPL2_uc003ame.3_Missense_Mutation_p.S257F|RFPL2_uc003amf.3_Missense_Mutation_p.S228F|RFPL2_uc003amh.3_Missense_Mutation_p.S228F	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	318	B30.2/SPRY.						zinc ion binding			skin(1)	1						ATCAAAAAAGGAAACGTTCTG	0.512													10	57					0	0	0.002450	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120944	38120944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr22:38120944C>T	uc003atr.2	+	7	2652	c.2381C>T	c.(2380-2382)TCC>TTC	p.S794F	TRIOBP_uc003atu.2_Missense_Mutation_p.S622F|TRIOBP_uc003atq.1_Missense_Mutation_p.S794F|TRIOBP_uc003ats.1_Missense_Mutation_p.S622F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	794					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCCAGAACATCCTGTGCCCAG	0.532													7	46					0	0	0.001984	0	0
MTMR14	64419	broad.mit.edu	37	3	9743533	9743533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:9743533C>T	uc003brz.2	+	19	1953	c.1829C>T	c.(1828-1830)GCT>GTT	p.A610V	MTMR14_uc003bsa.2_Missense_Mutation_p.A558V|MTMR14_uc003bsb.2_Missense_Mutation_p.A498V|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Missense_Mutation_p.A252V|MTMR14_uc003bsc.2_RNA|CPNE9_uc003bsd.2_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	610						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					GCCTTCTTGGCTGCGTACAGC	0.612													18	58					0	0	0.006122	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467126	21467126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:21467126C>T	uc003cce.2	-	6	1118	c.710G>A	c.(709-711)GGA>GAA	p.G237E		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	237						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						AGTGCCACTTCCATTCCGGGC	0.328													14	52					0	0	0.002450	0	0
SCN11A	11280	broad.mit.edu	37	3	38924754	38924754	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:38924754G>A	uc011ays.1	-	18	3388	c.3189C>T	c.(3187-3189)ATC>ATT	p.I1063I	SCN11A_uc010hhn.1_Silent_p.I141I	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1063	Helical; Name=S1 of repeat III; (By similarity).|III.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAATCACAAAGATAATAAAGC	0.498													12	43					0	0	0.001855	0	0
TMIE	259236	broad.mit.edu	37	3	46750656	46750656	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:46750656G>A	uc010hjk.1	+	3	407	c.252G>A	c.(250-252)CGG>CGA	p.R84R	TMIE_uc010hjj.1_Missense_Mutation_p.D124N	NM_147196	NP_671729	Q8NEW7	TMIE_HUMAN	transmembrane inner ear protein precursor	84	Cytoplasmic (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		GTGTGCCACGGACCCGGAAGG	0.582													12	55					0	0	0.001855	0	0
RBM6	10180	broad.mit.edu	37	3	50005389	50005389	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:50005389C>T	uc003cyc.2	+	3	664	c.531C>T	c.(529-531)GGC>GGT	p.G177G	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	177					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACTTCAGGGGCCGGGGCACTT	0.483													13	59					0	0	0.001368	0	0
NAT6	24142	broad.mit.edu	37	3	50334157	50334157	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:50334157G>A	uc003czi.2	-	2	841	c.738C>T	c.(736-738)CCC>CCT	p.P246P	HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Silent_p.P268P|NAT6_uc003czk.3_Silent_p.P246P|NAT6_uc003czl.1_Silent_p.P246P	NM_012191	NP_036323	Q93015	NAT6_HUMAN	N-acetyltransferase 6	246						cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACTCAGGTAGGGGAGGGGGTG	0.627													15	61					0	0	0.003163	0	0
NAT6	24142	broad.mit.edu	37	3	50334616	50334616	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:50334616G>A	uc003czi.2	-	2	382	c.279C>T	c.(277-279)TCC>TCT	p.S93S	HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czj.2_Silent_p.S115S|NAT6_uc003czk.3_Silent_p.S93S|NAT6_uc003czl.1_Silent_p.S93S	NM_012191	NP_036323	Q93015	NAT6_HUMAN	N-acetyltransferase 6	93	N-acetyltransferase.					cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACTGGCCCAGGGAGTGCAGGC	0.657													14	43					0	0	0.002450	0	0
HEMK1	51409	broad.mit.edu	37	3	50614942	50614942	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:50614942C>T	uc003dau.2	+	6	848	c.552C>T	c.(550-552)AGC>AGT	p.S184S	HEMK1_uc003dav.2_Silent_p.S184S|HEMK1_uc003daw.2_Silent_p.S184S	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	184					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TGGGACAGAGCCGAGTCATTG	0.547													13	61					0	0	0.001855	0	0
DNAH1	25981	broad.mit.edu	37	3	52409265	52409265	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:52409265A>C	uc011bef.1	+	45	7256	c.6995A>C	c.(6994-6996)AAG>ACG	p.K2332T		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2332	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGCCTTCAAGAACCTAGTG	0.468													4	18					0	0	0.000602	0	0
ZBED2	79413	broad.mit.edu	37	3	111312998	111312998	+	Silent	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:111312998T>C	uc003dxy.2	-	2	936	c.51A>G	c.(49-51)AAA>AAG	p.K17K	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	17							DNA binding|metal ion binding			skin(1)	1						CTAAGTCCCCTTTTGCCTTCA	0.488													3	81					0	0	0.000248	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598689	151598689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:151598689C>T	uc003ezf.1	+	3	457	c.358C>T	c.(358-360)CGA>TGA	p.R120*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	120	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CAGCATAGATCGATACTTGAT	0.383													16	73					0	0	0.004007	0	0
ATP13A4	84239	broad.mit.edu	37	3	193207530	193207530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:193207530C>T	uc003ftd.2	-	7	835	c.727G>A	c.(727-729)GAT>AAT	p.D243N	ATP13A4_uc003fte.1_Missense_Mutation_p.D243N|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	243	Helical; (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)		TCTCTGAGATCATATACTGTC	0.313													34	161					0	0	0.003755	0	0
LOC348926	348926	broad.mit.edu	37	4	3948555	3948556	+	RNA	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:3948555_3948556CC>TT	uc011bvu.1	-	5		c.1779_1780GG>AA			LOC348926_uc003ghn.2_Intron	NR_024253				Homo sapiens hypothetical protein LOC348926, mRNA (cDNA clone IMAGE:4546485), partial cds.												0						GCCACGTAGACCTCAGGAGCCC	0.639													12	31					0	0	0.004672	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863951	6863951	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:6863951C>T	uc003gjr.3	+	7	2305	c.1842C>T	c.(1840-1842)CTC>CTT	p.L614L	KIAA0232_uc003gjq.3_Silent_p.L614L	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	614							ATP binding			ovary(2)	2						CAGTTAGACTCTCTCCCATCT	0.473													14	48					0	0	0.003163	0	0
PI4K2B	55300	broad.mit.edu	37	4	25260689	25260689	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:25260689T>G	uc003grk.2	+	5	920	c.787T>G	c.(787-789)TAC>GAC	p.Y263D	PI4K2B_uc011bxs.1_Missense_Mutation_p.Y167D	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	263	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			ovary(2)|skin(2)	4		Breast(46;0.173)				TGTTGAAGGTTACAAGGAGGC	0.299													7	65					0	0	0.004482	0	0
KIT	3815	broad.mit.edu	37	4	55561754	55561754	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:55561754C>T	uc010igr.2	+	2	231	c.144C>T	c.(142-144)GTC>GTT	p.V48V	KIT_uc010igs.2_Silent_p.V48V	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	48	Extracellular (Potential).|Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTAATAGTCCGCGTGGGCG	0.468		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				16	36					0	0	0.004990	0	0
HNRPDL	9987	broad.mit.edu	37	4	83349281	83349281	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:83349281T>C	uc003hmr.2	-	3	1199	c.664A>G	c.(664-666)AGG>GGG	p.R222G	ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.R222G	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	222	RRM 1.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				GCTTTGGCCCTTTTGGGATCT	0.388													4	108					0	0	0.000602	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169804	90169804	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:90169804C>T	uc003hsm.1	-	2	1977	c.1458G>A	c.(1456-1458)GGG>GGA	p.G486G		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	486										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTTCAAATTTCCCCAATCCAT	0.448													20	100					0	0	0.001882	0	0
GAR1	54433	broad.mit.edu	37	4	110737533	110737533	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:110737533C>T	uc003hzt.2	+	2	520	c.213C>T	c.(211-213)GTC>GTT	p.V71V	GAR1_uc003hzu.2_Silent_p.V71V|GAR1_uc010imh.1_Silent_p.V71V|GAR1_uc010imi.2_Silent_p.V71V	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN	nucleolar protein family A, member 1	71					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding				0						AACGTGTAGTCTGTATGCAGT	0.423													33	98					0	0	0.004878	0	0
ALPK1	80216	broad.mit.edu	37	4	113352711	113352711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:113352711C>T	uc003iap.3	+	11	2287	c.2008C>T	c.(2008-2010)CCC>TCC	p.P670S	ALPK1_uc003ian.3_Missense_Mutation_p.P670S|ALPK1_uc011cfx.1_Missense_Mutation_p.P592S|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.P498S	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	670							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCAACAGATGCCCTTGACACC	0.483													14	59					0	0	0.002450	0	0
NEUROG2	63973	broad.mit.edu	37	4	113435952	113435952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:113435952G>A	uc003ias.2	-	2	1007	c.680C>T	c.(679-681)TCC>TTC	p.S227F		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	227	Ser-rich.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			skin(2)|central_nervous_system(1)	3		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGAATTGGAGGACACGGAGGA	0.697													4	29					0	0	0.000248	0	0
FAT4	79633	broad.mit.edu	37	4	126369632	126369632	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:126369632G>A	uc003ifj.3	+	9	7461	c.7461G>A	c.(7459-7461)GCG>GCA	p.A2487A	FAT4_uc011cgp.1_Silent_p.A785A|FAT4_uc003ifi.1_5'UTR	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2487	Extracellular (Potential).|Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTGTCTTTGCGGTTACAGTCA	0.368													12	88					0	0	0.004007	0	0
SCLT1	132320	broad.mit.edu	37	4	129880925	129880925	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:129880925C>A	uc003igp.2	-	12	1383	c.877G>T	c.(877-879)GTG>TTG	p.V293L	SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	293	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						TGGATTGTCACACATAATCTA	0.294													21	75					2.4624e-09	1.11738e-08	0.001216	1	0
LRBA	987	broad.mit.edu	37	4	151773051	151773051	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:151773051G>A	uc010ipj.2	-	23	4285	c.3811C>T	c.(3811-3813)CGA>TGA	p.R1271*	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Nonsense_Mutation_p.R1271*	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1271						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					AGCACATGTCGATGAGGTTGA	0.373													9	38					0	0	0.000443	0	0
MND1	84057	broad.mit.edu	37	4	154318395	154318395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:154318395G>A	uc003ink.1	+	6	465	c.376G>A	c.(376-378)GAG>AAG	p.E126K		NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	GAJ protein	126	Potential.				DNA recombination|meiosis	nucleus	DNA binding				0	all_hematologic(180;0.093)					GCTAGCAAAAGAGCTTTCTTC	0.358													10	14					0	0	0.000978	0	0
TKTL2	84076	broad.mit.edu	37	4	164394874	164394874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:164394874C>T	uc003iqp.3	-	1	174	c.13G>A	c.(13-15)GAC>AAC	p.D5N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	5						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCTTGGCGTCGTTGGCCATC	0.647													7	31					0	0	0.001984	0	0
TLL1	7092	broad.mit.edu	37	4	167020441	167020441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:167020441G>A	uc003irh.1	+	20	3316	c.2669G>A	c.(2668-2670)CGA>CAA	p.R890Q	TLL1_uc011cjn.1_Missense_Mutation_p.R913Q|TLL1_uc011cjo.1_Missense_Mutation_p.R714Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	890	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGGCGGACGATTGAAAGCA	0.413													20	77					0	0	0.001216	0	0
DNAH5	1767	broad.mit.edu	37	5	13864533	13864533	+	Silent	SNP	A	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:13864533A>C	uc003jfd.2	-	28	4611	c.4569T>G	c.(4567-4569)CCT>CCG	p.P1523P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1523	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					ATTTCAGAAGAGGTGCCTCCA	0.408									Kartagener_syndrome				13	64					0	0	0.003163	0	0
Unknown	0	broad.mit.edu	37	5	17354186	17354186	+	RNA	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:17354186C>T	uc003jfy.2	-	1		c.543G>A			uc003jfz.2_Intron					full-length cDNA clone CS0DC022YF01 of Neuroblastoma Cot 25-normalized of Homo sapiens (human).																		TGTGCAGTTCCAGTAGTGACT	0.443													13	88					0	0	0.002450	0	0
PRLR	5618	broad.mit.edu	37	5	35086320	35086320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:35086320G>A	uc003jjm.2	-	4	723	c.193C>T	c.(193-195)CAC>TAC	p.H65Y	PRLR_uc003jjg.1_Missense_Mutation_p.H65Y|PRLR_uc003jjh.1_Missense_Mutation_p.H65Y|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Missense_Mutation_p.H65Y|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_5'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	65	Fibronectin type-III 1.|Extracellular (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)|skin(1)	3	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTTCCCTGTGGTAAGTCAGT	0.473													15	96					0	0	0.004990	0	0
NNT	23530	broad.mit.edu	37	5	43651923	43651923	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:43651923C>T	uc003joe.2	+	13	2055	c.1800C>T	c.(1798-1800)CTC>CTT	p.L600L	NNT_uc003jof.2_Silent_p.L600L	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	600	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGTACCTGCTCCCTGCCGGCA	0.453													28	124					0	0	0.002836	0	0
FOXD1	2297	broad.mit.edu	37	5	72743629	72743629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:72743629G>A	uc003kcp.2	-	1	724	c.559C>T	c.(559-561)CCC>TCC	p.P187S		NM_004472	NP_004463	Q16676	FOXD1_HUMAN	forkhead box D1	187	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		GGCTCGCGGGGGATCTTGACG	0.652													18	79					0	0	0.001216	0	0
MEF2C	4208	broad.mit.edu	37	5	88018700	88018700	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:88018700G>A	uc003kjj.2	-	11	1816	c.1143C>T	c.(1141-1143)TCC>TCT	p.S381S	MEF2C_uc003kji.2_Silent_p.S373S|MEF2C_uc003kjk.2_Silent_p.S381S|MEF2C_uc003kjm.2_Silent_p.S371S|MEF2C_uc003kjl.2_Silent_p.S391S	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	381	Transcription repressor.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TAGAAGGCAGGGAGAGATTTG	0.517										HNSCC(66;0.2)			5	19					0	0	0.000602	0	0
SNCAIP	9627	broad.mit.edu	37	5	121780263	121780263	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:121780263G>A	uc003ksw.1	+	8	1634	c.1428G>A	c.(1426-1428)TTG>TTA	p.L476L	SNCAIP_uc011cwl.1_Silent_p.L34L|SNCAIP_uc003ksx.1_Silent_p.L523L|SNCAIP_uc003ksy.1_Silent_p.L110L|SNCAIP_uc003ksz.1_Silent_p.L110L|SNCAIP_uc010jcu.2_Silent_p.L72L|SNCAIP_uc011cwm.1_Silent_p.L110L|SNCAIP_uc003kta.1_Silent_p.L108L|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Silent_p.L170L|SNCAIP_uc010jcx.1_Silent_p.L416L|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_5'UTR	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	476	ANK 4.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACAGACCTTGGTTGAATATG	0.483													19	84					0	0	0.001882	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568396	140568396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:140568396C>T	uc003liw.1	+	3	1505	c.1505C>T	c.(1504-1506)TCC>TTC	p.S502F		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	502	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCC	0.657													41	145					0	0	0.002522	0	0
SPINK5	11005	broad.mit.edu	37	5	147466006	147466006	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:147466006G>A	uc003lox.2	+	5	394	c.321G>A	c.(319-321)GGG>GGA	p.G107G	SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Silent_p.G79G|SPINK5_uc010jgr.2_Silent_p.G88G|SPINK5_uc003low.2_Silent_p.G107G|SPINK5_uc003loy.2_Silent_p.G107G	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	107	Kazal-like 2.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAGATGGGGATTTTATCT	0.363													15	92					0	0	0.004007	0	0
SLC36A1	206358	broad.mit.edu	37	5	150838401	150838401	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:150838401C>T	uc003luc.2	+	2	265	c.48C>T	c.(46-48)TCC>TCT	p.S16S	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Silent_p.S16S|SLC36A1_uc010jhw.1_Silent_p.S16S	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	16	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ACTACAGCTCCACGGACGTGA	0.592													7	47					0	0	0.001984	0	0
GRIA1	2890	broad.mit.edu	37	5	153030046	153030046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:153030046C>T	uc003lva.3	+	4	982	c.617C>T	c.(616-618)TCA>TTA	p.S206L	GRIA1_uc003luy.3_Missense_Mutation_p.S206L|GRIA1_uc003luz.3_Missense_Mutation_p.S111L|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.S126L|GRIA1_uc011dcx.1_Missense_Mutation_p.S137L|GRIA1_uc011dcy.1_Missense_Mutation_p.S216L|GRIA1_uc011dcz.1_Missense_Mutation_p.S216L|GRIA1_uc010jia.1_Missense_Mutation_p.S186L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	206	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACTGTGAATCAGAACGCCTC	0.527													15	50					0	0	0.000958	0	0
GFPT2	9945	broad.mit.edu	37	5	179729450	179729450	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:179729450G>A	uc003mlw.1	-	18	2075	c.1977C>T	c.(1975-1977)TTC>TTT	p.F659F		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	659	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CAGCCAGGTGGAAGGACAGCA	0.502													6	49					0	0	0.001168	0	0
ERVFRDE1	405754	broad.mit.edu	37	6	11104843	11104843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:11104843C>T	uc003mzt.2	-	2	1071	c.701G>A	c.(700-702)CGA>CAA	p.R234Q	LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron	NM_207582	NP_997465	P60508	EFRD1_HUMAN	syncytin 2	234	Extracellular (Potential).					integral to membrane|plasma membrane|virion					0						aagagaatttcgagttTGGTC	0.219													12	34					0	0	0.000978	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31516145	31516145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:31516145G>A	uc003nub.2	+	2	382	c.263G>A	c.(262-264)GGG>GAG	p.G88E	BAT1_uc003ntv.2_5'Flank|ATP6V1G2_uc003ntz.2_5'Flank|ATP6V1G2_uc003nua.2_5'Flank|NFKBIL1_uc011dnr.1_Missense_Mutation_p.G65E|NFKBIL1_uc011dns.1_Missense_Mutation_p.G65E|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.G88E	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene	88	ANK 1.				cytoplasmic sequestering of transcription factor		protein binding				0						CTTCGGCTCGGGGCTGACCCT	0.692													5	16					0	0	0.000602	0	0
MAPK14	1432	broad.mit.edu	37	6	36070420	36070421	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:36070420_36070421CC>AT	uc003olp.2	+	10	1316_1317	c.835_836CC>AT	c.(835-837)CCC>ATC	p.P279I	MAPK14_uc003olo.2_Missense_Mutation_p.P279I|MAPK14_uc003olq.2_Missense_Mutation_p.P279I|MAPK14_uc003olr.2_Intron|MAPK14_uc011dti.1_Missense_Mutation_p.P202I	NM_001315	NP_001306	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14 isoform 1	279	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						TGGTGCCAATCCCCTGGGTAAG	0.366													16	100					0	0	0.004672	0	0
RUNX2	860	broad.mit.edu	37	6	45399682	45399682	+	Missense_Mutation	SNP	G	A	A	rs104893995		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:45399682G>A	uc011dvx.1	+	4	716	c.506G>A	c.(505-507)CGG>CAG	p.R169Q	RUNX2_uc011dvy.1_Missense_Mutation_p.R169Q|RUNX2_uc003oxt.2_Missense_Mutation_p.R155Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	169	Runt.		R -> P (in CLCD).|R -> Q (in CLCD).		negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						GCTGAGCTCCGGAATGCCTCT	0.478													22	104					0	0	0.002299	0	0
COL21A1	81578	broad.mit.edu	37	6	55935586	55935586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:55935586C>T	uc003pcs.2	-	21	2208	c.1976G>A	c.(1975-1977)GGT>GAT	p.G659D	COL21A1_uc010jzz.2_Missense_Mutation_p.G44D|COL21A1_uc011dxg.1_Missense_Mutation_p.G44D|COL21A1_uc011dxh.1_Missense_Mutation_p.G44D|COL21A1_uc003pcr.2_Missense_Mutation_p.V17M	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	659					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCAGGTTCACCTTTGCTTCC	0.328													5	11					0	0	0.003080	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904758	73904758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:73904758G>A	uc003pgk.2	+	14	2767	c.2420G>A	c.(2419-2421)AGC>AAC	p.S807N	KCNQ5_uc011dyh.1_Missense_Mutation_p.S826N|KCNQ5_uc011dyi.1_Missense_Mutation_p.S817N|KCNQ5_uc010kat.2_Missense_Mutation_p.S798N|KCNQ5_uc011dyj.1_Missense_Mutation_p.S697N|KCNQ5_uc011dyk.1_Missense_Mutation_p.S557N	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	807					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATGAGGAAAAGCTTTGACATG	0.493													16	60					0	0	0.006122	0	0
COL12A1	1303	broad.mit.edu	37	6	75799907	75799907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:75799907C>T	uc003phs.2	-	63	9026	c.8860G>A	c.(8860-8862)GGA>AGA	p.G2954R	COL12A1_uc003pht.2_Missense_Mutation_p.G1790R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2954	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CCTCTGGCTCCTGCGCTACCA	0.622													70	201					0	0	0.003610	0	0
COL28A1	340267	broad.mit.edu	37	7	7410438	7410438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:7410438G>A	uc003src.1	-	33	3101	c.2984C>T	c.(2983-2985)TCG>TTG	p.S995L	COL28A1_uc011jxe.1_Missense_Mutation_p.S678L	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	995					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGAGGTGACGATGAACCAAA	0.368													16	70					0	0	0.003163	0	0
PDE1C	5137	broad.mit.edu	37	7	31862791	31862791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:31862791G>A	uc003tcm.1	-	14	1947	c.1478C>T	c.(1477-1479)CCG>CTG	p.P493L	PDE1C_uc003tcn.1_Missense_Mutation_p.P493L|PDE1C_uc003tco.1_Missense_Mutation_p.P553L|PDE1C_uc003tcr.2_Missense_Mutation_p.P493L|PDE1C_uc003tcs.2_Missense_Mutation_p.P493L	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	493	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			ATTGTTGATCGGGGCACTTCC	0.468													16	66					0	0	0.003163	0	0
ZNF716	441234	broad.mit.edu	37	7	57528514	57528514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:57528514G>A	uc011kdi.1	+	4	459	c.347G>A	c.(346-348)GGA>GAA	p.G116E		NM_001159279	NP_001152751			zinc finger protein 716											ovary(2)	2						AGAAGATATGGAAAATGTGGA	0.363													11	39					0	0	0.000673	0	0
PCLO	27445	broad.mit.edu	37	7	82595259	82595259	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:82595259G>T	uc003uhx.2	-	4	4134	c.3845C>A	c.(3844-3846)CCA>CAA	p.P1282Q	PCLO_uc003uhv.2_Missense_Mutation_p.P1282Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1221					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CACTGTCTTTGGAGCCACTCT	0.428													7	180					0.00198382	0.00880643	0.001984	1	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:100350361T>C	uc003uwj.2	+	14	2798	c.2633T>C	c.(2632-2634)CTC>CCC	p.L878P	ZAN_uc003uwk.2_Missense_Mutation_p.L878P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	878	66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502													3	77					0	0	0.004672	0	0
RELN	5649	broad.mit.edu	37	7	103230152	103230152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:103230152C>T	uc003vca.2	-	28	4196	c.4036G>A	c.(4036-4038)GGA>AGA	p.G1346R	RELN_uc010liz.2_Missense_Mutation_p.G1346R	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1346					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTCGCATCCTTTGCCTGCA	0.468													75	86					0	0	0.003610	0	0
HYAL4	23553	broad.mit.edu	37	7	123508989	123508989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:123508989C>T	uc003vlc.2	+	3	1300	c.662C>T	c.(661-663)CCT>CTT	p.P221L	HYAL4_uc011knz.1_Missense_Mutation_p.P221L	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	221	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						TATTTATATCCTGATTGCCAC	0.428													18	80					0	0	0.000958	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:140453136A>T	uc003vwc.3	-	15	1860	c.1799T>A	c.(1798-1800)GTG>GAG	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				49	49					0	0	0.003610	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175394	143175394	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:143175394C>T	uc003wdc.1	+	1	429	c.429C>T	c.(427-429)ATC>ATT	p.I143I	uc003wda.2_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	143	Helical; Name=4; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			pancreas(1)|skin(1)	2	Melanoma(164;0.15)					TCTCCTTCATCATAACCCTGC	0.453													9	74					0	0	0.004482	0	0
ABCB8	11194	broad.mit.edu	37	7	150739164	150739164	+	Silent	SNP	C	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:150739164C>A	uc003wil.3	+	15	1878	c.1785C>A	c.(1783-1785)ACC>ACA	p.T595T	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Silent_p.T578T|ABCB8_uc011kvd.1_Silent_p.T490T|ABCB8_uc003wim.3_Silent_p.T373T|ABCB8_uc003wik.3_Silent_p.T578T	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	595	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTTCATCACCAGCTTCCCCG	0.597													8	99					1.12685e-05	5.06835e-05	0.004482	1	0
SLC25A37	51312	broad.mit.edu	37	8	23429209	23429209	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:23429209C>T	uc003xdo.2	+	4	1011	c.858C>T	c.(856-858)TTC>TTT	p.F286F	SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|uc003xds.2_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	286	Solcar 3.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCAATGCCTTCCGGACGGTGT	0.612													4	23					0	0	0.000248	0	0
GPR124	25960	broad.mit.edu	37	8	37693122	37693122	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:37693122C>T	uc003xkj.2	+	13	2247	c.1884C>T	c.(1882-1884)TCC>TCT	p.S628S	GPR124_uc010lvy.2_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	628	Extracellular (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TATTCTCATCCCTTCCGGCTG	0.647													8	87					0	0	0.004482	0	0
PXDNL	137902	broad.mit.edu	37	8	52469450	52469450	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:52469450G>C	uc003xqu.3	-	4	431	c.330C>G	c.(328-330)ATC>ATG	p.I110M		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	110	LRR 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTAGTGCATGGATTTCATTCT	0.274													27	84					0	0	0.001271	0	0
TGS1	96764	broad.mit.edu	37	8	56715072	56715072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:56715072C>T	uc003xsj.3	+	9	2293	c.1906C>T	c.(1906-1908)CCT>TCT	p.P636S	TGS1_uc010lyh.2_Missense_Mutation_p.P540S	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	636	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGGTCTGCCTCCTGAAATAGC	0.343													15	63					0	0	0.004007	0	0
PENK	5179	broad.mit.edu	37	8	57353905	57353905	+	Missense_Mutation	SNP	C	T	T	rs149967411		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:57353905C>T	uc003xsz.2	-	2	811	c.730G>A	c.(730-732)GAC>AAC	p.D244N	PENK_uc003xta.3_Missense_Mutation_p.D244N	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	244					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTTCTTCGTCGGAGGGCAGA	0.493													23	97					0	0	0.002299	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578462	67578462	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:67578462C>T	uc003xwn.2	-	1	991	c.732G>A	c.(730-732)CAG>CAA	p.Q244Q	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	244	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GCTGAAAGTGCTGTTTAAGAT	0.512													8	49					0	0	0.003080	0	0
KCNB2	9312	broad.mit.edu	37	8	73848532	73848532	+	Silent	SNP	C	T	T	rs145537672	by1000genomes	TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:73848532C>T	uc003xzb.2	+	3	1530	c.942C>T	c.(940-942)CTC>CTT	p.L314L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	314	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TCCTGAAACTCGCCAGGCATT	0.512													87	35					0	0	0.003610	0	0
MTDH	92140	broad.mit.edu	37	8	98735188	98735188	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:98735188C>T	uc003yhz.2	+	11	1931	c.1603C>T	c.(1603-1605)CAA>TAA	p.Q535*	MTDH_uc010mbf.2_RNA	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	535	Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GAGCTCTTCCCAAGTGCCGCC	0.393													225	69					0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100847802	100847802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:100847802C>T	uc003yiv.2	+	54	9964	c.9853C>T	c.(9853-9855)CCC>TCC	p.P3285S	VPS13B_uc003yiw.2_Missense_Mutation_p.P3260S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3285					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAAAAATTCCCTCCGAGTG	0.388													16	95					0	0	0.006122	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110467013	110467013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:110467013G>A	uc003yne.2	+	45	6910	c.6806G>A	c.(6805-6807)CGA>CAA	p.R2269Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2269	Extracellular (Potential).|G8 1.				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)			GGTCACCTGCGATCTCCTGAG	0.493										HNSCC(38;0.096)			13	78					0	0	0.001368	0	0
PTPRD	5789	broad.mit.edu	37	9	8521384	8521384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr9:8521384C>T	uc003zkk.2	-	19	1565	c.854G>A	c.(853-855)GGA>GAA	p.G285E	PTPRD_uc003zkp.2_Missense_Mutation_p.G285E|PTPRD_uc003zkq.2_Missense_Mutation_p.G285E|PTPRD_uc003zkr.2_Missense_Mutation_p.G279E|PTPRD_uc003zks.2_Missense_Mutation_p.G275E|PTPRD_uc003zkl.2_Missense_Mutation_p.G285E|PTPRD_uc003zkm.2_Missense_Mutation_p.G272E|PTPRD_uc003zkn.2_Missense_Mutation_p.G285E|PTPRD_uc003zko.2_Missense_Mutation_p.G282E	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	285	Extracellular (Potential).|Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACATTTCTTCCTATTGGCAT	0.443										TSP Lung(15;0.13)			25	71					0	0	0.003330	0	0
SMC5	23137	broad.mit.edu	37	9	72915040	72915040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr9:72915040C>T	uc004ahr.2	+	10	1505	c.1388C>T	c.(1387-1389)ACG>ATG	p.T463M		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	463	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						TTCCGTGACACGTATGATGCT	0.353													21	37					0	0	0.001523	0	0
PNPLA7	375775	broad.mit.edu	37	9	140409851	140409851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr9:140409851G>A	uc004cnf.2	-	11	1467	c.1130C>T	c.(1129-1131)CCT>CTT	p.P377L	PNPLA7_uc011mfa.1_Missense_Mutation_p.P109L|PNPLA7_uc010ncj.1_Missense_Mutation_p.P402L	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	377					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGAAGGGTCAGGGTCACCTGC	0.647													3	10					0	0	0.000248	0	0
PNPLA4	8228	broad.mit.edu	37	X	7870112	7870112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:7870112G>A	uc011mhq.1	-	6	710	c.548C>T	c.(547-549)CCC>CTC	p.P183L	PNPLA4_uc011mhr.1_Missense_Mutation_p.P183L|PNPLA4_uc011mhs.1_Missense_Mutation_p.P96L	NM_004650	NP_004641	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	183					lipid catabolic process		triglyceride lipase activity				0		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TCCACTGAAGGGGGAGATGGT	0.532													22	20					0	0	0.002299	0	0
ELK1	2002	broad.mit.edu	37	X	47498705	47498705	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:47498705G>A	uc004dik.3	-	4	565	c.243C>T	c.(241-243)TTC>TTT	p.F81F	ELK1_uc010nhv.2_Silent_p.F81F|ELK1_uc010nhw.2_5'UTR|ELK1_uc004dil.3_RNA	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	81	ETS.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						ACTTGTAGACGAACTTCTGGC	0.597													10	8					0	0	0.001855	0	0
GPR173	54328	broad.mit.edu	37	X	53106032	53106032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:53106032C>T	uc004dru.2	+	2	487	c.229C>T	c.(229-231)CCC>TCC	p.P77S		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	77	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CGTCTGCTTCCCCTTTGTGCT	0.587													26	32					0	0	0.001061	0	0
TBX22	50945	broad.mit.edu	37	X	79282277	79282277	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:79282277C>T	uc010nmg.1	+	6	842	c.708C>T	c.(706-708)TCC>TCT	p.S236S	TBX22_uc004edi.1_Silent_p.S116S|TBX22_uc004edj.1_Silent_p.S236S	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	236	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						TTGACCTGTCCCAGATTCAGT	0.448													19	27					0	0	0.000958	0	0
CT47B1	643311	broad.mit.edu	37	X	120007782	120007782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:120007782C>T	uc011muc.1	-	2	1123	c.868G>A	c.(868-870)GAA>AAA	p.E290K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 147, member B1	290	Potential.										0						ACCTTGTTTTCCACATCCTTC	0.453													190	228					0	0	0.003610	0	0
GPR112	139378	broad.mit.edu	37	X	135453677	135453677	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:135453677C>T	uc004ezu.1	+	14	7878	c.7587C>T	c.(7585-7587)GCC>GCT	p.A2529A	GPR112_uc010nsb.1_Silent_p.A2324A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2529	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ACAATTCCGCCTCTGATCTGC	0.249													13	25					0	0	0.001368	0	0
TRIM65	201292	broad.mit.edu	37	17	73888441	73888443	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:73888441_73888443delCTC	uc002jpx.2	-	3	685_687	c.649_651delGAG	c.(649-651)GAGdel	p.E217del		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	tripartite motif-containing 65	217	Potential.					intracellular	zinc ion binding				0			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCCGCTGCTCCTCGTCTCGA	0.640													12	39	---	---	---	---					
CEP68	23177	broad.mit.edu	37	2	65299562	65299563	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:65299562_65299563insT	uc002sdl.3	+	3	1546_1547	c.1332_1333insT	c.(1330-1335)GGGTGGfs	p.G444fs	CEP68_uc002sdj.2_Frame_Shift_Ins_p.G444fs|CEP68_uc010yqb.1_Frame_Shift_Ins_p.G444fs|CEP68_uc002sdk.3_Frame_Shift_Ins_p.G444fs|CEP68_uc010yqc.1_Frame_Shift_Ins_p.G444fs|CEP68_uc010yqd.1_Frame_Shift_Ins_p.G444fs	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	444_445					centrosome organization	centrosome				skin(1)	1						GGGACAGAGGGTGGCCCTCGCC	0.624													10	36	---	---	---	---					
CPEB2	132864	broad.mit.edu	37	4	15063885	15063886	+	Splice_Site	INS	-	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:15063885_15063886insT	uc003gni.1	+	10	1629	c.1542_splice	c.e10+1	p.R514_splice	CPEB2_uc003gnj.1_Splice_Site_p.R484_splice|CPEB2_uc003gnk.1_Splice_Site_p.R522_splice|CPEB2_uc003gnl.1_Splice_Site_p.R495_splice|CPEB2_uc003gnm.1_Splice_Site_p.R492_splice|CPEB2_uc003gnn.1_Splice_Site_p.R487_splice	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding						regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						TGATAAACGTGTAAGTTGCATA	0.381													26	136	---	---	---	---					
PSCA	8000	broad.mit.edu	37	8	143763499	143763500	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:143763499_143763500insG	uc003ywu.2	+	3	376_377	c.321_322insG	c.(319-324)CTTGCGfs	p.L107fs	uc003ywt.1_5'Flank	NM_005672	NP_005663	O43653	PSCA_HUMAN	prostate stem cell antigen preproprotein	98_99											0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGCCATCCTTGCGCTGCTCCC	0.678													10	101	---	---	---	---					
