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
TP73	7161	broad.mit.edu	37	1	3639953	3639953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:3639953G>A	uc001akp.2	+	6	762	c.652G>A	c.(652-654)GAA>AAA	p.E218K	TP73_uc001akq.2_Missense_Mutation_p.E218K|TP73_uc010nzj.1_Missense_Mutation_p.E169K|TP73_uc001akr.2_Missense_Mutation_p.E169K|TP73_uc009vlk.1_Missense_Mutation_p.E169K|TP73_uc001aks.2_Missense_Mutation_p.E169K|TP73_uc010nzk.1_Missense_Mutation_p.E147K	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	218	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CATCCGCGTGGAAGGCAATAA	0.622000													23	15					0	0	0.000720815	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887258	12887258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:12887258G>A	uc001auk.2	-	3	795	c.599C>T	c.(598-600)TCC>TTC	p.S200F		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	200	LRR 1.										0						ATCCATGTGGGAGAGAACGAG	0.512000													101	290					0	0	0.000781405	0	0
CLCNKA	1187	broad.mit.edu	37	1	16354561	16354561	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:16354561C>T	uc001axu.2	+	10	995	c.915C>T	c.(913-915)ACC>ACT	p.T305T	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Silent_p.T305T|CLCNKA_uc010obw.1_Silent_p.T262T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	305					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTCAGCGAACCTTCCTCAGCT	0.592000													57	43					0	0	0.000781405	0	0
PADI4	23569	broad.mit.edu	37	1	17657550	17657550	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:17657550A>C	uc001baj.2	+	2	207	c.179A>C	c.(178-180)AAG>ACG	p.K60T	PADI4_uc009vpc.2_Missense_Mutation_p.K60T	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	60					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCAGCCAAGAAGAAATCCACA	0.602000													7	66					0	0	0.000157383	0	0
HSPG2	3339	broad.mit.edu	37	1	22199211	22199211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:22199211G>A	uc001bfj.2	-	32	3971	c.3931C>T	c.(3931-3933)CAC>TAC	p.H1311Y	HSPG2_uc009vqd.2_Missense_Mutation_p.H1312Y	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1311	Laminin EGF-like 8.				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)	AGGTGGAAGTGGTGGGGCCGG	0.657000													7	26					0	0	0.000157383	0	0
LUZP1	7798	broad.mit.edu	37	1	23419931	23419931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:23419931G>A	uc001bgk.2	-	4	1208	c.824C>T	c.(823-825)TCA>TTA	p.S275L	LUZP1_uc010odv.1_Missense_Mutation_p.S275L|LUZP1_uc001bgl.2_Missense_Mutation_p.S275L|LUZP1_uc001bgm.1_Missense_Mutation_p.S275L	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	275	Potential.					nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCATTTTCTGATTTGTTTCT	0.398000													93	72					0	0	0.000781405	0	0
ZMYM6	9204	broad.mit.edu	37	1	35480717	35480717	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:35480717A>G	uc001byh.2	-	5	703	c.475T>C	c.(475-477)TCC>CCC	p.S159P	ZMYM6_uc001byf.1_Missense_Mutation_p.S159P|ZMYM6_uc010oht.1_Missense_Mutation_p.S62P|ZMYM6_uc009vup.2_5'UTR|ZMYM6_uc009vuq.1_Missense_Mutation_p.S159P|ZMYM6_uc009vur.1_5'UTR	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	159					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CTAGGATAGGAATTCTCAAAG	0.313000													27	28					0	0	0.00127121	0	0
STK40	83931	broad.mit.edu	37	1	36809729	36809729	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:36809729G>A	uc001cak.1	-	9	1283	c.876C>T	c.(874-876)ACC>ACT	p.T292T	STK40_uc001cal.1_Silent_p.T297T|STK40_uc001cam.1_Silent_p.T292T|STK40_uc009vva.1_Silent_p.T292T|STK40_uc001can.1_Silent_p.T292T	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	292	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)				ACTCAGGAATGGTATACTCGG	0.632000													27	12					0	0	0.00106085	0	0
EPHA10	284656	broad.mit.edu	37	1	38227621	38227621	+	Silent	SNP	G	A	A	rs138523815		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:38227621G>A	uc009vvi.2	-	3	392	c.306C>T	c.(304-306)TTC>TTT	p.F102F	EPHA10_uc001cbw.3_Silent_p.F102F	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	102	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAGTTCCACGAAGATGCGCT	0.612000													34	129					0	0	0.000953801	0	0
C1orf175	374977	broad.mit.edu	37	1	55118647	55118647	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:55118647G>A	uc010ooe.1	+	3	372	c.48G>A	c.(46-48)AAG>AAA	p.K16K	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.K16K|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.K16K|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	16						integral to membrane	binding				0						AAGACCCAAAGATGACACCAA	0.592000													17	51					0	0	0.000958276	0	0
EPHX4	253152	broad.mit.edu	37	1	92528792	92528792	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:92528792G>A	uc001don.2	+	7	1142	c.1038G>A	c.(1036-1038)GTG>GTA	p.V346V		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	abhydrolase domain containing 7	346						integral to membrane	hydrolase activity			central_nervous_system(1)	1						CTGACATAGTGAACAAATTGA	0.318000													24	49					0	0	0.000720815	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94654865	94654865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:94654865C>T	uc001dqj.3	-	14	1852	c.1483G>A	c.(1483-1485)GGA>AGA	p.G495R	ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.G61R	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	495					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGGCAGGTCCAAATCCTGAA	0.348000													13	32					0	0	0.000219431	0	0
IGSF3	3321	broad.mit.edu	37	1	117146637	117146637	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:117146637G>A	uc001egr.1	-	6	1938	c.1233C>T	c.(1231-1233)ATC>ATT	p.I411I	IGSF3_uc001egq.1_Silent_p.I431I|IGSF3_uc001egs.1_Silent_p.I84I	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	411	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTCCACGGAGATGCTGCTCT	0.617000													6	12					0	0	0.00116845	0	0
MAN1A2	10905	broad.mit.edu	37	1	117984892	117984892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:117984892C>T	uc001ehd.1	+	6	1616	c.895C>T	c.(895-897)CTT>TTT	p.L299F	MAN1A2_uc009whg.1_Missense_Mutation_p.L89F	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	299	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGAGAAACTCCTTCCTGCCTT	0.343000													70	65					0	0	0.000781405	0	0
NOTCH2	4853	broad.mit.edu	37	1	120461032	120461032	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:120461032G>T	uc001eik.2	-	32	6182	c.5926C>A	c.(5926-5928)CAT>AAT	p.H1976N		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1976	ANK 5.|Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCTACCATGGTCATCCACT	0.532000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				10	453					0.000442599	0.0034754	0.000442599	1	0
NOTCH2	4853	broad.mit.edu	37	1	120548030	120548030	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:120548030G>A	uc001eik.2	-	3	593	c.337C>T	c.(337-339)CGA>TGA	p.R113*	NOTCH2_uc001eil.2_Nonsense_Mutation_p.R113*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.R30*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	113	Extracellular (Potential).|EGF-like 3.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCAGGGTCGAGACACAAAG	0.547000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				110	645					0	0	0.000781405	0	0
NOTCH2	4853	broad.mit.edu	37	1	120548055	120548055	+	Silent	SNP	T	C	C	rs145641723	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:120548055T>C	uc001eik.2	-	3	568	c.312A>G	c.(310-312)TCA>TCG	p.S104S	NOTCH2_uc001eil.2_Silent_p.S104S|NOTCH2_uc001eim.3_Silent_p.S21S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	104	Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAGATGTTGAGTACTGGC	0.567000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				42	639					0	0	0.000781405	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273371	145273371	+	Silent	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:145273371T>C	uc001emn.3	+	3	595	c.225T>C	c.(223-225)CCT>CCC	p.P75P	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.P75P|NOTCH2NL_uc001emo.2_Silent_p.P75P|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	75	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						TGTCTCGACCTTGCCTGAATG	0.547000													19	886					0	0	0.00148497	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	T	T	rs4996269	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:145296403C>T	uc001end.3	+	3	360	c.325C>T	c.(325-327)CTA>TTA	p.L109L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Silent_p.L109L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	109											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000													8	487					0	0	0.00136819	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:145367739A>G	uc001end.3	+	85	10595	c.10560A>G	c.(10558-10560)AAA>AAG	p.K3520K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3445											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.244000													5	94					0	0	0.000602214	0	0
GABPB2	126626	broad.mit.edu	37	1	151070438	151070438	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:151070438C>T	uc001ewr.2	+	5	913	c.582C>T	c.(580-582)CTC>CTT	p.L194L	GABPB2_uc010pcp.1_Silent_p.L210L|GABPB2_uc001ews.2_Silent_p.L154L|GABPB2_uc001ewt.2_Silent_p.L93L	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	GA repeat binding protein, beta 2	194					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		TTGTTAACCTCGCAAGCCTTA	0.413000													42	58					0	0	0.000680045	0	0
S100A9	6280	broad.mit.edu	37	1	153333206	153333206	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:153333206C>T	uc001fbq.2	+	3	280	c.237C>T	c.(235-237)TTC>TTT	p.F79F		NM_002965	NP_002956	P06702	S10A9_HUMAN	S100 calcium-binding protein A9	79	EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGAGGAGTTCATCATGCTGA	0.572000													32	45					0	0	0.00178596	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543885	154543885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:154543885G>A	uc001ffg.2	+	5	850	c.586G>A	c.(586-588)GAC>AAC	p.D196N		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	196	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CAGCCTGGACGACTTCACACC	0.582000													29	43					0	0	0.00106085	0	0
DDR2	4921	broad.mit.edu	37	1	162731115	162731115	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:162731115C>T	uc001gcf.2	+	10	1435	c.970C>T	c.(970-972)CTG>TTG	p.L324L	DDR2_uc001gcg.2_Silent_p.L324L	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	324	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCCCCTTGTCCTGGATGACGT	0.507000													22	27					0	0	0.000375601	0	0
ZBTB37	84614	broad.mit.edu	37	1	173839909	173839909	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:173839909G>A	uc009wwp.1	+	3	822	c.546G>A	c.(544-546)CTG>CTA	p.L182L	GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|ZBTB37_uc001gjp.1_Silent_p.L182L|ZBTB37_uc001gjq.3_Silent_p.L182L|ZBTB37_uc001gjr.2_Silent_p.L182L	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37 isoform	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGCTGTGCTGGATATCAGAG	0.532000													40	42					0	0	0.00170553	0	0
ASTN1	460	broad.mit.edu	37	1	177001981	177001981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:177001981C>T	uc001glc.2	-	3	688	c.476G>A	c.(475-477)GGC>GAC	p.G159D	ASTN1_uc001glb.1_Missense_Mutation_p.G159D|ASTN1_uc001gld.1_Missense_Mutation_p.G159D|ASTN1_uc009wwx.1_Missense_Mutation_p.G159D|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	159	Helical; (Potential).				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						AGCGATCATGCCACCCTAGGA	0.562000													4	63					0	0	0.000602214	0	0
CRB1	23418	broad.mit.edu	37	1	197390978	197390978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:197390978G>A	uc001gtz.2	+	6	2155	c.2020G>A	c.(2020-2022)GAT>AAT	p.D674N	CRB1_uc010poz.1_Missense_Mutation_p.D605N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.D562N|CRB1_uc010ppb.1_Missense_Mutation_p.D674N|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.D155N|CRB1_uc001gub.1_Missense_Mutation_p.D323N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	674	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						TGTGAGAAAGGATTGGTGTGA	0.483000													45	13					0	0	0.000781405	0	0
CR1	1378	broad.mit.edu	37	1	207787808	207787809	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:207787808_207787809GG>AA	uc001hfy.2	+	32	5425_5426	c.5285_5286GG>AA	c.(5284-5286)TGG>TAA	p.W1762*	CR1_uc001hfx.2_Nonsense_Mutation_p.W2212*	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1762	Extracellular (Potential).|Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						AAAGCCCTTTGGAATAGCAGTG	0.416000													12	40					0	0	6.4e-05	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879201	209879201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:209879201G>A	uc001hhj.2	+	3	241	c.134G>A	c.(133-135)GGG>GAG	p.G45E	HSD11B1_uc001hhk.2_Missense_Mutation_p.G45E	NM_181755	NP_861420	P28845	DHI1_HUMAN	11-beta-hydroxysteroid dehydrogenase 1	45	Lumenal (Potential).|NADP.				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GCCAGCAAAGGGATCGGAAGA	0.507000													22	52					0	0	0.00188189	0	0
USH2A	7399	broad.mit.edu	37	1	216497021	216497021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:216497021G>A	uc001hku.1	-	8	1732	c.1345C>T	c.(1345-1347)CGT>TGT	p.R449C	USH2A_uc001hkv.2_Missense_Mutation_p.R449C	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	449	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATTGCCACGGGAATATGGA	0.348000										HNSCC(13;0.011)			33	43					0	0	0.000692331	0	0
DISP1	84976	broad.mit.edu	37	1	223178735	223178735	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:223178735C>T	uc001hnu.1	+	8	4143	c.3996C>T	c.(3994-3996)ATC>ATT	p.I1332I		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1332					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TCACGCACATCCACCACTGTC	0.567000													162	191					0	0	0.000781405	0	0
C1orf65	164127	broad.mit.edu	37	1	223568218	223568218	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:223568218G>A	uc001hoa.2	+	1	1504	c.1401G>A	c.(1399-1401)AGG>AGA	p.R467R		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	467	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		AGGGCCTGAGGAAGGAGCGGC	0.617000													24	28					0	0	0.000375601	0	0
ACBD3	64746	broad.mit.edu	37	1	226349248	226349248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:226349248G>A	uc001hpy.2	-	4	759	c.712C>T	c.(712-714)CGG>TGG	p.R238W		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	238	Arg-rich.|Potential.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGCTCCAACCGAAGcctttct	0.134000													34	32					0	0	0.00128727	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152877	233152877	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:233152877C>T	uc001hvl.2	-	27	4864	c.4629G>A	c.(4627-4629)ACG>ACA	p.T1543T	PCNXL2_uc001hvk.1_Silent_p.T195T|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1543						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GTTTGGGAGACGTTACCATAT	0.383000													14	83					0	0	0.00185496	0	0
RYR2	6262	broad.mit.edu	37	1	237774098	237774098	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:237774098G>T	uc001hyl.1	+	36	4840	c.4720G>T	c.(4720-4722)GAG>TAG	p.E1574*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1574	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTCAAGAGTGAGCACAAGAA	0.527000													5	8					2.0095e-06	1.59474e-05	8.12818e-05	1	0
OR2W3	343171	broad.mit.edu	37	1	248059344	248059344	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248059344G>A	uc001idp.1	+	3	725	c.456G>A	c.(454-456)GGG>GGA	p.G152G	OR2W3_uc010pzb.1_Silent_p.G152G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGGCTGTGGGGTGGCCAACT	0.632000													7	35					0	0	8.12818e-05	0	0
OR2W3	343171	broad.mit.edu	37	1	248059574	248059574	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248059574G>T	uc001idp.1	+	3	955	c.686G>T	c.(685-687)CGG>CTG	p.R229L	OR2W3_uc010pzb.1_Missense_Mutation_p.R229L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTACAAATTCGGTCAGCATCA	0.527000													35	89					4.62619e-21	3.74118e-20	0.000814825	1	0
OR2L2	26246	broad.mit.edu	37	1	248202226	248202226	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248202226G>A	uc001idw.2	+	1	753	c.657G>A	c.(655-657)CGG>CGA	p.R219R	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	219	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTATGGCCGGGTTCTCCTTG	0.502000													35	102					0	0	0.00058488	0	0
OR2T12	127064	broad.mit.edu	37	1	248458252	248458252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:248458252G>A	uc010pzj.1	-	1	629	c.629C>T	c.(628-630)TCC>TTC	p.S210F		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CAGGATGAGGGAAAAGGGGAC	0.547000													11	64					0	0	0.000219431	0	0
AKR1C1	1645	broad.mit.edu	37	10	5009146	5009146	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:5009146T>G	uc001iho.2	+	8	1121	c.280T>G	c.(280-282)TTG>GTG	p.L94V	AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc009xhx.2_Missense_Mutation_p.L94V|AKR1C1_uc001ihq.2_Missense_Mutation_p.L94V	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	94					bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	TCGACCAGAGTTGGTCCGACC	0.413000													7	84					0	0	0.000274275	0	0
PHYH	5264	broad.mit.edu	37	10	13336537	13336537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:13336537C>T	uc001imf.2	-	4	393	c.305G>A	c.(304-306)AGA>AAA	p.R102K	PHYH_uc001ime.2_Missense_Mutation_p.R2K|PHYH_uc001img.2_Missense_Mutation_p.R83K	NM_006214	NP_006205	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase isoform a precursor	102					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding				0		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GGTCACATCTCTCATTACTGT	0.398000													20	49					0	0	0.00121646	0	0
STAM	8027	broad.mit.edu	37	10	17756660	17756660	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:17756660G>C	uc001ipj.1	+	14	1720	c.1504G>C	c.(1504-1506)GGA>CGA	p.G502R	STAM_uc009xjw.1_Missense_Mutation_p.G160R	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	502					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						CCAGAATGCAGGACCTAATAT	0.532000													3	76					0	0	0.00024832	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000166	47000166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:47000166C>T	uc001jec.2	+	3	1421	c.1286C>T	c.(1285-1287)TCT>TTT	p.S429F	GPRIN2_uc010qfq.1_Missense_Mutation_p.S192F	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	429											0						GACAGCCTGTCTGTGGAGGGC	0.716000													4	11					0	0	0.00116845	0	0
ANK3	288	broad.mit.edu	37	10	61834621	61834621	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:61834621C>T	uc001jky.2	-	37	6210	c.6018G>A	c.(6016-6018)GCG>GCA	p.A2006A	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	2006					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GAGACTGGCTCGCAGCAGCTT	0.448000													28	60					0	0	0.00127121	0	0
TMEM26	219623	broad.mit.edu	37	10	63170087	63170087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:63170087G>A	uc001jlo.2	-	6	1469	c.1100C>T	c.(1099-1101)ACC>ATC	p.T367I	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	367						integral to membrane					0	Prostate(12;0.0112)					TAACTAAGGGGTGTGGTGGGA	0.557000													18	24					0	0	0.000958276	0	0
OIT3	170392	broad.mit.edu	37	10	74658714	74658714	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:74658714G>A	uc001jte.1	+	2	572	c.354G>A	c.(352-354)ACG>ACA	p.T118T	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	118						nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					GGAACACCACGGTGGAAGTCA	0.577000													15	27					0	0	0.000422831	0	0
NRG3	10718	broad.mit.edu	37	10	84745267	84745267	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:84745267C>A	uc001kco.2	+	9	2024	c.1997C>A	c.(1996-1998)GCC>GAC	p.A666D	NRG3_uc010qlz.1_Missense_Mutation_p.A665D|NRG3_uc001kcp.2_Missense_Mutation_p.A469D|NRG3_uc001kcq.2_Missense_Mutation_p.A316D|NRG3_uc001kcr.2_Missense_Mutation_p.A340D	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	690	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAAAACACAGCCTTTCTCCCC	0.493000													40	22					3.33393e-15	2.68156e-14	0.000953801	1	0
CDHR1	92211	broad.mit.edu	37	10	85971455	85971455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:85971455G>A	uc001kcv.2	+	14	1537	c.1537G>A	c.(1537-1539)GGG>AGG	p.G513R	CDHR1_uc001kcw.2_Missense_Mutation_p.G513R|CDHR1_uc009xst.2_Missense_Mutation_p.G217R|CDHR1_uc001kcx.2_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	513	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						TTCCACCTATGGGACTGGGGC	0.577000													36	56					0	0	0.00170553	0	0
C10orf4	118924	broad.mit.edu	37	10	95452438	95452438	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:95452438G>A	uc001kiz.1	-	6	543	c.345C>T	c.(343-345)TTC>TTT	p.F115F	C10orf4_uc001kiv.1_RNA|C10orf4_uc001kja.1_Silent_p.F115F|C10orf4_uc001kjb.1_Silent_p.F115F|C10orf4_uc009xuh.1_Silent_p.F116F	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	FRA10AC1 protein	115						nucleus	protein binding				0		Colorectal(252;0.122)				CATTCCATAGGAATCTATGAT	0.358000													27	41					0	0	0.000339439	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824691	96824691	+	Silent	SNP	G	A	A	rs150790274	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:96824691G>A	uc001kkb.2	-	4	603	c.508C>T	c.(508-510)CTG>TTG	p.L170L	CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Silent_p.L100L|CYP2C8_uc010qob.1_Silent_p.L84L|CYP2C8_uc010qoc.1_Silent_p.L68L|CYP2C8_uc010qod.1_Silent_p.L84L	NM_000770	NP_000761	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C,	170					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding				0		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCACAGCCCAGGATGAAAGTG	0.308000													34	61					0	0	0.00170553	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114190594	114190594	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:114190594G>A	uc001kzv.2	-	11	1634	c.1210C>T	c.(1210-1212)CAA>TAA	p.Q404*	ZDHHC6_uc001kzw.2_Nonsense_Mutation_p.Q400*	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	404						integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TCTGGGGCTTGATCTGTTTCA	0.368000													39	62					0	0	0.000781405	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925434	114925434	+	Silent	SNP	C	T	T	rs151216935		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:114925434C>T	uc001lae.3	+	14	2019	c.1512C>T	c.(1510-1512)CCC>CCT	p.P504P	TCF7L2_uc001lac.3_Silent_p.P498P|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Silent_p.P481P|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Silent_p.P481P|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Silent_p.P436P|TCF7L2_uc010qrs.1_Silent_p.P392P|TCF7L2_uc010qrt.1_Silent_p.P392P|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	521					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GCTCCCCTCCCCGAGACGCCA	0.642000													102	174					0	0	0.000781405	0	0
CPXM2	119587	broad.mit.edu	37	10	125521553	125521553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:125521553C>T	uc001lhk.1	-	11	1937	c.1612G>A	c.(1612-1614)GAA>AAA	p.E538K	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	538					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGGGTGTGTTCCTGCGTCTTC	0.652000													26	50					0	0	0.00127121	0	0
EBF3	253738	broad.mit.edu	37	10	131639280	131639281	+	Missense_Mutation	DNP	AT	TG	TG			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:131639280_131639281AT>TG	uc001lki.1	-	14	1420_1421	c.1361_1362AT>CA	c.(1360-1362)AAT>ACA	p.N454T		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	463					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CGCTGCTTGTATTGCGACTGTA	0.525000													29	51					0	0	6.4e-05	0	0
EBF3	253738	broad.mit.edu	37	10	131671784	131671784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr10:131671784G>A	uc001lki.1	-	8	772	c.713C>T	c.(712-714)TCC>TTC	p.S238F		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	238	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCCGTGTTTGGAATTGTTGTG	0.498000													22	31					0	0	0.00152264	0	0
NAP1L4	4676	broad.mit.edu	37	11	2991032	2991032	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:2991032C>G	uc001lxc.2	-	7	675	c.534_splice	c.e7+1	p.Q178_splice	NAP1L4_uc010qxm.1_Splice_Site_p.Q178_splice|NAP1L4_uc010qxn.1_Splice_Site_p.Q178_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4						nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			ovary(1)	1		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AGTGTGCTTACCTGGACTAAT	0.413000													145	220					0	0	0.000781405	0	0
OR51G1	79324	broad.mit.edu	37	11	4944836	4944836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:4944836G>A	uc010qyr.1	-	1	734	c.734C>T	c.(733-735)TCT>TTT	p.S245F		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATATGAGAGACACAGGT	0.542000													22	42					0	0	0.000720815	0	0
OR52A5	390054	broad.mit.edu	37	11	5153784	5153784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:5153784C>T	uc010qyx.1	-	1	89	c.89G>A	c.(88-90)GGG>GAG	p.G30E		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAAGGAATCCCAATCCAACA	0.398000													22	24					0	0	0.00047179	0	0
OR52D1	390066	broad.mit.edu	37	11	5510825	5510825	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:5510825G>T	uc010qzg.1	+	1	889	c.889G>T	c.(889-891)GGA>TGA	p.G297*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	297	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCTCTATGGAGCTAGAAC	0.458000													18	26					1.33834e-09	1.06494e-08	0.000958276	1	0
UBQLNL	143630	broad.mit.edu	37	11	5537318	5537318	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:5537318C>T	uc001maz.3	-	1	639	c.354G>A	c.(352-354)ACG>ACA	p.T118T	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	118										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGGGATCATTCGTTGGCAGGT	0.547000													29	37					0	0	0.000339439	0	0
NLRP10	338322	broad.mit.edu	37	11	7984813	7984813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:7984813C>T	uc001mfv.1	-	1	247	c.230G>A	c.(229-231)GGC>GAC	p.G77D		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	77	DAPIN.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCTTCAAGCCCTTGAGGAC	0.542000													16	48					0	0	0.000422831	0	0
MICAL2	9645	broad.mit.edu	37	11	12246316	12246316	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:12246316G>C	uc001mjz.2	+	13	1925	c.1637G>C	c.(1636-1638)CGC>CCC	p.R546P	MICAL2_uc010rch.1_Missense_Mutation_p.R546P|MICAL2_uc001mka.2_Missense_Mutation_p.R546P|MICAL2_uc010rci.1_Missense_Mutation_p.R546P|MICAL2_uc001mkb.2_Missense_Mutation_p.R546P|MICAL2_uc001mkc.2_Missense_Mutation_p.R546P|MICAL2_uc001mkd.2_Missense_Mutation_p.R375P|MICAL2_uc010rcj.1_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	546	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ACATCCTGGCGCAGTGGGTTG	0.642000													22	38					0	0	0.000295444	0	0
RAG1	5896	broad.mit.edu	37	11	36596800	36596800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:36596800C>T	uc001mwu.3	+	2	2070	c.1946C>T	c.(1945-1947)CCT>CTT	p.P649L	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	649					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				GAAGCCAAACCTAACTCTGAA	0.458000									Familial_Hemophagocytic_Lymphohistiocytosis				18	31					0	0	0.000958276	0	0
RAG1	5896	broad.mit.edu	37	11	36597825	36597825	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:36597825C>T	uc001mwu.3	+	2	3095	c.2971C>T	c.(2971-2973)CTG>TTG	p.L991L	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	991					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGATGTCCTGAAACACCA	0.453000									Familial_Hemophagocytic_Lymphohistiocytosis				28	48					0	0	0.000878237	0	0
OR4B1	119765	broad.mit.edu	37	11	48238697	48238697	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:48238697G>A	uc010rhs.1	+	1	336	c.336G>A	c.(334-336)TTG>TTA	p.L112L		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						AGATCCTTTTGATTGTGGTGA	0.433000													46	96					0	0	0.000781405	0	0
OR5F1	338674	broad.mit.edu	37	11	55761196	55761196	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:55761196C>T	uc010riv.1	-	1	906	c.906G>A	c.(904-906)GCG>GCA	p.A302A		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					TAATTACATTCGCTAAAGCCT	0.383000													10	29					0	0	0.000978159	0	0
OR5M9	390162	broad.mit.edu	37	11	56230020	56230020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:56230020C>T	uc010rjj.1	-	1	858	c.858G>A	c.(856-858)ATG>ATA	p.M286I		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					GACTGTAGATCATGGGATTCA	0.423000													27	46					0	0	0.000720815	0	0
P2RX3	5024	broad.mit.edu	37	11	57137455	57137455	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:57137455C>T	uc001nju.2	+	12	1255	c.1179C>T	c.(1177-1179)TTC>TTT	p.F393F		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	393	Cytoplasmic (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						CGGGGGCCTTCTCCATAGGCC	0.612000													14	9					0	0	0.000219431	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367882	64367882	+	Silent	SNP	C	T	T	rs61743169	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:64367882C>T	uc001oam.1	+	8	2076	c.1329C>T	c.(1327-1329)GGC>GGT	p.G443G	SLC22A12_uc001oal.1_Silent_p.G222G|SLC22A12_uc009yps.1_Silent_p.G409G|SLC22A12_uc001oan.1_Silent_p.G335G|SLC22A12_uc009ypt.2_Silent_p.G261G	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	443	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						TGGGGCTGGGCGGGGTGGGGG	0.652000													7	19					0	0	0.000442599	0	0
PITPNM1	9600	broad.mit.edu	37	11	67270001	67270001	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:67270001C>T	uc001olx.2	-	2	456	c.267G>A	c.(265-267)TGG>TGA	p.W89*	PITPNM1_uc001oly.2_Nonsense_Mutation_p.W89*|PITPNM1_uc001olz.2_Nonsense_Mutation_p.W89*	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	89					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						GGTAGGCATTCCAGGATTCCT	0.642000													25	30					0	0	0.000586117	0	0
DGAT2	84649	broad.mit.edu	37	11	75509401	75509401	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:75509401C>T	uc001oxa.2	+	7	1198	c.939C>T	c.(937-939)ATC>ATT	p.I313I	DGAT2_uc001oxb.2_Silent_p.I270I	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	313	Cytoplasmic (Potential).				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	Ovarian(111;0.103)					CCCCATGCATCTTCCATGGTC	0.572000													29	42					0	0	0.00106085	0	0
MYO7A	4647	broad.mit.edu	37	11	76893594	76893594	+	Silent	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:76893594G>C	uc001oyb.2	+	25	3506	c.3234G>C	c.(3232-3234)CTG>CTC	p.L1078L	MYO7A_uc010rsl.1_Silent_p.L1078L|MYO7A_uc010rsm.1_Silent_p.L1067L|MYO7A_uc001oyc.2_Silent_p.L1078L|MYO7A_uc001oyd.2_Silent_p.L418L|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Silent_p.L289L	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1078	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						ATGAGACCCTGGGCAAGAAGA	0.597000													3	60					0	0	6.4e-05	0	0
C11orf82	220042	broad.mit.edu	37	11	82644950	82644950	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:82644950A>G	uc001ozt.2	+	6	2814	c.2570A>G	c.(2569-2571)CAT>CGT	p.H857R	C11orf82_uc010rsr.1_Missense_Mutation_p.H556R|C11orf82_uc010rss.1_Missense_Mutation_p.H556R|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	857					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						GCTGAGTGCCATGAAACTGAT	0.408000													19	30					0	0	0.00188189	0	0
FAT3	120114	broad.mit.edu	37	11	92086518	92086518	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:92086518G>T	uc001pdj.3	+	1	1257	c.1240G>T	c.(1240-1242)GGT>TGT	p.G414C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	414	Extracellular (Potential).|Cadherin 4.				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)				ATTATCTCCTGGTGAGGATGC	0.418000										TCGA Ovarian(4;0.039)			11	476					0.00010058	0.000791867	0.00136819	1	0
CCDC67	159989	broad.mit.edu	37	11	93103287	93103287	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93103287C>T	uc001pdq.2	+	6	581	c.481C>T	c.(481-483)CAG>TAG	p.Q161*	CCDC67_uc001pdo.1_Nonsense_Mutation_p.Q161*|CCDC67_uc001pdp.2_Nonsense_Mutation_p.Q161*	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	161	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GATATTATATCAGACTCATCT	0.289000													7	12					0	0	0.000442599	0	0
HEPHL1	341208	broad.mit.edu	37	11	93797623	93797623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93797623C>T	uc001pep.2	+	4	912	c.755C>T	c.(754-756)CCT>CTT	p.P252L		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	252	Plastocyanin-like 2.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCACCAACCCTGATTCAGTT	0.398000													14	33					0	0	0.00185496	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800808	93800808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93800808C>T	uc001pep.2	+	5	1112	c.955C>T	c.(955-957)CGG>TGG	p.R319W	uc001pen.1_RNA	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	319	Plastocyanin-like 2.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGAGGGCATCGGACTGATGT	0.473000													58	93					0	0	0.000781405	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844973	93844973	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:93844973G>A	uc001pep.2	+	20	3550	c.3393G>A	c.(3391-3393)GTG>GTA	p.V1131V	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	1131	Helical; (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCACCACGGTGATTCTCTCCC	0.512000													68	97					0	0	0.000781405	0	0
CUL5	8065	broad.mit.edu	37	11	107959385	107959385	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:107959385T>C	uc001pjv.2	+	12	1977	c.1310T>C	c.(1309-1311)GTG>GCG	p.V437A	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	437					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTTAAAGAAGTGGTACATGAA	0.313000													13	25					0	0	0.00136819	0	0
ZBTB16	7704	broad.mit.edu	37	11	114112908	114112908	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:114112908C>T	uc001pop.2	+	5	1737	c.1473C>T	c.(1471-1473)TTC>TTT	p.F491F	ZBTB16_uc001poq.2_Silent_p.F491F	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	491	C2H2-type 4.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGGCCGTCTTCTGTCTGCTGT	0.597000													16	26					0	0	0.00074312	0	0
PCSK7	9159	broad.mit.edu	37	11	117100225	117100225	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:117100225G>A	uc001pqr.2	-	3	537	c.336C>T	c.(334-336)GCC>GCT	p.A112A		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	112				A -> P (in Ref. 1; AAC50417 and 3; AAB03087).	peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCTGCCGGATGGCCTCCACCT	0.652000			T	IGH@	MLCLS								26	29					0	0	0.00127121	0	0
OR10S1	219873	broad.mit.edu	37	11	123848156	123848156	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:123848156G>A	uc001pzm.1	-	1	243	c.243C>T	c.(241-243)TTC>TTT	p.F81F		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	81	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGCATCCAGGAAGGAGAGGT	0.562000													8	9					0	0	0.000157383	0	0
OR8D1	283159	broad.mit.edu	37	11	124180459	124180459	+	Silent	SNP	G	A	A	rs142777403	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr11:124180459G>A	uc010sag.1	-	1	204	c.204C>T	c.(202-204)TTC>TTT	p.F68F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGAAATCGACGAAGGACAAGC	0.473000													29	41					0	0	0.000878237	0	0
SLC6A13	6540	broad.mit.edu	37	12	333178	333178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:333178C>T	uc001qic.1	-	11	1344	c.1291G>A	c.(1291-1293)GGG>AGG	p.G431R	SLC6A13_uc009zdj.1_Missense_Mutation_p.G421R|SLC6A13_uc010sdl.1_Missense_Mutation_p.G339R	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	431	Helical; Name=9; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATGATCAGCCCCACAAGGAAG	0.592000													11	29					0	0	0.00136819	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:2062350C>G	uc001qjx.1	-	7	836	c.756G>C	c.(754-756)CAG>CAC	p.Q252H	DCP1B_uc010sdy.1_Missense_Mutation_p.Q150H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.458000													3	76					0	0	6.4e-05	0	0
ACSM4	341392	broad.mit.edu	37	12	7477098	7477098	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:7477098C>T	uc001qsx.1	+	11	1440	c.1440C>T	c.(1438-1440)TAC>TAT	p.Y480Y		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	480					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0						TCTTCAGGTACCGTATTGGGC	0.463000													19	33					0	0	0.00152264	0	0
BCAT1	586	broad.mit.edu	37	12	24985744	24985744	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:24985744G>A	uc001rgd.3	-	9	1399	c.957C>T	c.(955-957)GCC>GCT	p.A319A	BCAT1_uc001rgc.2_Silent_p.A318A|BCAT1_uc010six.1_Silent_p.A331A|BCAT1_uc010siy.1_Silent_p.A282A|BCAT1_uc001rge.3_Silent_p.A258A	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	319					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TCCCCTCCAGGGCTGTTGTCA	0.423000													7	5					0	0	8.12818e-05	0	0
SFRS2IP	9169	broad.mit.edu	37	12	46321226	46321226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:46321226G>A	uc001rox.2	-	11	2545	c.2258C>T	c.(2257-2259)TCT>TTT	p.S753F	SFRS2IP_uc001row.2_Missense_Mutation_p.S438F|SFRS2IP_uc001roy.1_Missense_Mutation_p.S827F	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	753					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		ATTATTTTCAGAACAGTGTGT	0.353000													35	54					0	0	0.000814825	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48133923	48133923	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:48133923C>T	uc009zkp.2	-	22	2687	c.2247_splice	c.e22+1	p.L749_splice	uc001rpv.2_RNA|RAPGEF3_uc001rpw.2_Splice_Site_p.L84_splice|RAPGEF3_uc001rpx.2_Splice_Site_p.L206_splice|RAPGEF3_uc010sln.1_Splice_Site_p.L246_splice|RAPGEF3_uc001rpy.2_Splice_Site|RAPGEF3_uc009zkq.2_Splice_Site_p.L749_splice|RAPGEF3_uc001rpz.3_Splice_Site_p.L791_splice	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform						regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGAGCACTCACCAGCAGCCTC	0.667000													3	7					0	0	0.00116845	0	0
MLL2	8085	broad.mit.edu	37	12	49421020	49421021	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:49421020_49421021GG>AA	uc001rta.3	-	48	14728_14729	c.14728_14729CC>TT	c.(14728-14730)CCT>TTT	p.P4910F		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4910	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TTCTTCAGGAGGTGGGGCCGAG	0.629000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			50	73					0	0	6.4e-05	0	0
MLL2	8085	broad.mit.edu	37	12	49434624	49434624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:49434624G>A	uc001rta.3	-	31	6929	c.6929C>T	c.(6928-6930)CCC>CTC	p.P2310L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2310	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GCCTGAGGAGGGTGAGTCAAC	0.607000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			9	20					0	0	0.000274275	0	0
TRHDE	29953	broad.mit.edu	37	12	72969158	72969159	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:72969158_72969159GG>AA	uc001sxa.2	+	11	2150_2151	c.2120_2121GG>AA	c.(2119-2121)CGG>CAA	p.R707Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	707	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						CAATTAATCCGGAATCATGAGG	0.342000													20	34					0	0	6.4e-05	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77203529	77203529	+	Silent	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:77203529A>G	uc001syk.1	+	5	598	c.435A>G	c.(433-435)AAA>AAG	p.K145K	ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	huntingtin interacting protein 14	145	ANK 2.|Cytoplasmic (Potential).				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding				0						AACTAATGAAATATGGTGCAG	0.368000													8	9					0	0	0.000673444	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77244685	77244685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:77244685C>T	uc001syk.1	+	17	1982	c.1819C>T	c.(1819-1821)CGT>TGT	p.R607C		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	huntingtin interacting protein 14	607	Cytoplasmic (Potential).				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding				0						TGGCCTCTTTCGTCCTGTTAT	0.418000													51	84					0	0	0.000781405	0	0
CEP290	80184	broad.mit.edu	37	12	88472896	88472896	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:88472896G>A	uc001tar.2	-	39	5681	c.5337C>T	c.(5335-5337)ATC>ATT	p.I1779I	CEP290_uc001taq.2_Silent_p.I839I	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1779	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						GTCGATCAACGATTTGTTGAA	0.378000													12	20					0	0	0.00185496	0	0
KITLG	4254	broad.mit.edu	37	12	88912503	88912503	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:88912503C>A	uc001tav.2	-	4	517	c.334G>T	c.(334-336)GTG>TTG	p.V112L	KITLG_uc009zsn.2_Missense_Mutation_p.V40L|KITLG_uc001taw.2_Missense_Mutation_p.V112L|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	112	Extracellular (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1						ACGCACTCCACAAGGTCATCC	0.373000									Testicular_Cancer_Familial_Clustering_of				25	60					3.69857e-22	3.00736e-21	0.001512	1	0
NR2C1	7181	broad.mit.edu	37	12	95456372	95456372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:95456372G>A	uc001tdm.3	-	3	453	c.197C>T	c.(196-198)CCG>CTG	p.P66L	NR2C1_uc010suu.1_Missense_Mutation_p.P66L|NR2C1_uc001tdo.3_Missense_Mutation_p.P66L|NR2C1_uc001tdn.3_Missense_Mutation_p.P66L	NM_003297	NP_003288	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	66	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1						AACTTTTCCCGGAGTGGAATC	0.448000													16	17					0	0	0.000308642	0	0
PAH	5053	broad.mit.edu	37	12	103240729	103240729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:103240729C>T	uc001tjq.1	-	10	1385	c.913G>A	c.(913-915)GAA>AAA	p.E305K		NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	305					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGGCCAATTTCCTGTAATTGG	0.493000													21	33					0	0	0.000586117	0	0
C12orf51	283450	broad.mit.edu	37	12	112690352	112690352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:112690352G>A	uc009zwc.2	-	16	2180	c.2162C>T	c.(2161-2163)CCC>CTC	p.P721L	C12orf51_uc010syk.1_Intron|C12orf51_uc001tts.2_Intron|C12orf51_uc001ttt.3_Intron	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TAAGGAAGGGGGGGAAATGCA	0.398000													34	46					0	0	0.000814825	0	0
PXN	5829	broad.mit.edu	37	12	120652710	120652710	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:120652710C>G	uc001txt.2	-	9	1327	c.1196G>C	c.(1195-1197)CGG>CCG	p.R399P	PXN_uc001txu.2_Missense_Mutation_p.R211P|PXN_uc001txv.2_Missense_Mutation_p.R280P|PXN_uc001txx.2_Missense_Mutation_p.R232P|PXN_uc001txy.2_Missense_Mutation_p.R365P|PXN_uc001txz.2_RNA	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	399	LIM zinc-binding 1.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTCCATCCCGCTCGAAGAA	0.607000													3	52					0	0	6.4e-05	0	0
GOLGA3	2802	broad.mit.edu	37	12	133372444	133372444	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:133372444G>A	uc001ukz.1	-	11	3022	c.2463C>T	c.(2461-2463)TCC>TCT	p.S821S	GOLGA3_uc001ula.1_Silent_p.S821S|GOLGA3_uc001ulb.2_Silent_p.S821S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	821	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTACCTGGCCGGATTTGATAG	0.378000													41	47					0	0	0.000781405	0	0
MTUS2	23281	broad.mit.edu	37	13	29600817	29600817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr13:29600817C>T	uc001usl.3	+	1	2070	c.2012C>T	c.(2011-2013)TCG>TTG	p.S671L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	661	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						GTGGACGCCTCGCTGGTTCCA	0.587000													8	13					0	0	0.000157383	0	0
STK24	8428	broad.mit.edu	37	13	99171669	99171669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr13:99171669G>A	uc001vnm.1	-	2	372	c.137C>T	c.(136-138)TCC>TTC	p.S46F	STK24_uc001vnn.1_Missense_Mutation_p.S34F|STK24_uc010tim.1_Missense_Mutation_p.S34F	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	46	ATP (By similarity).|Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCTCCAAAGGAGCCCTTCCC	0.423000													147	45					0	0	0.000781405	0	0
OR4E2	26686	broad.mit.edu	37	14	22133660	22133660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:22133660C>T	uc010tmd.1	+	1	364	c.364C>T	c.(364-366)CGT>TGT	p.R122C		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGCGTATGATCGTTACGTGGC	0.468000													75	23					0	0	0.000781405	0	0
MYH7	4625	broad.mit.edu	37	14	23898283	23898283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:23898283C>T	uc001wjx.2	-	14	1394	c.1288G>A	c.(1288-1290)GCA>ACA	p.A430T		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	430	Myosin head-like.		A -> E (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCATACACTGCCTTGGCCAGT	0.537000													39	20					0	0	0.000781405	0	0
C14orf115	55237	broad.mit.edu	37	14	74824954	74824954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:74824954G>A	uc001xpw.3	+	2	1659	c.1468G>A	c.(1468-1470)GAC>AAC	p.D490N		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	490					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		CACAGGTGAGGACCCTCCCGC	0.662000													59	16					0	0	0.000781405	0	0
CCDC88C	440193	broad.mit.edu	37	14	91805692	91805692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:91805692C>T	uc010aty.2	-	8	838	c.739G>A	c.(739-741)GAA>AAA	p.E247K	CCDC88C_uc010twk.1_Missense_Mutation_p.E211K	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	247	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				TGCTTGTCTTCGCTAGAGAGG	0.652000													19	9					0	0	0.000295444	0	0
SNORD113-7	767567	broad.mit.edu	37	14	101407515	101407515	+	RNA	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr14:101407515C>T	uc001yio.2	+	1		c.53C>T				NR_003235				Homo sapiens small nucleolar RNA, C/D box 113-7 (SNORD113-7), non-coding RNA.												0						TCTGATTATACCCTGTCTGTA	0.363000													83	24					0	0	0.000781405	0	0
RYR3	6263	broad.mit.edu	37	15	34080582	34080582	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:34080582C>T	uc001zhi.2	+	67	9823	c.9753C>T	c.(9751-9753)ATC>ATT	p.I3251I	RYR3_uc010bar.2_Silent_p.I3251I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3251					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACTCCTCATCCTGGACGAGT	0.562000													41	51					0	0	0.00195071	0	0
GCOM1	145781	broad.mit.edu	37	15	57913876	57913876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:57913876G>A	uc002aei.2	+	4	508	c.389G>A	c.(388-390)CGA>CAA	p.R130Q	GCOM1_uc002aej.2_Missense_Mutation_p.R130Q|GCOM1_uc002aek.2_Intron|GCOM1_uc002ael.2_Intron|GCOM1_uc002aem.2_Missense_Mutation_p.R130Q|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.R130Q|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	GRINL1A upstream protein isoform 7	130	Potential.				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				ovary(1)	1						CAGAAGATTCGACAGCTCACC	0.468000													48	90					0	0	0.000781405	0	0
VPS13C	54832	broad.mit.edu	37	15	62208096	62208096	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:62208096G>A	uc002agz.2	-	61	8255	c.8181C>T	c.(8179-8181)TTC>TTT	p.F2727F	VPS13C_uc002aha.2_Silent_p.F2684F|VPS13C_uc002ahb.1_Silent_p.F2727F|VPS13C_uc002ahc.1_Silent_p.F2684F|VPS13C_uc002ahd.1_Silent_p.F104F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2727					protein localization					ovary(2)	2						CACGTATGCGGAAATGTCCAT	0.448000													18	34					0	0	0.00152264	0	0
ITGA11	22801	broad.mit.edu	37	15	68641186	68641186	+	Silent	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr15:68641186A>G	uc002ari.2	-	10	1200	c.1113T>C	c.(1111-1113)TTT>TTC	p.F371F	ITGA11_uc010bib.2_Silent_p.F371F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	371	FG-GAP 3.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CGTGCGAGGAAAAGCCCGTCT	0.567000													9	2					0	0	0.000673444	0	0
BTBD12	84464	broad.mit.edu	37	16	3640985	3640985	+	Missense_Mutation	SNP	G	T	T	rs147492092	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:3640985G>T	uc002cvp.2	-	12	3281	c.2654C>A	c.(2653-2655)CCG>CAG	p.P885Q		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	885	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CCCAGAAACCGGACTGCCACC	0.582000								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				17	36					5.3912e-06	4.26708e-05	0.00074312	1	0
PPL	5493	broad.mit.edu	37	16	4935885	4935885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:4935885C>T	uc002cyd.1	-	22	2861	c.2771G>A	c.(2770-2772)AGG>AAG	p.R924K		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	924	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CCCCTGATTCCTCAAGGTCCA	0.602000													45	60					0	0	0.000781405	0	0
CPPED1	55313	broad.mit.edu	37	16	12798735	12798735	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:12798735C>G	uc002dca.3	-	3	572	c.461G>C	c.(460-462)TGG>TCG	p.W154S	CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	154							hydrolase activity|metal ion binding				0						GCCCCCGACCCAGAAGCTGAA	0.612000													19	29					0	0	0.000958276	0	0
TMC7	79905	broad.mit.edu	37	16	19070812	19070812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:19070812C>T	uc002dfq.2	+	15	2232	c.2102C>T	c.(2101-2103)TCC>TTC	p.S701F	TMC7_uc002dfp.2_Missense_Mutation_p.S701F|TMC7_uc010vap.1_Missense_Mutation_p.S591F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	701	Cytoplasmic (Potential).					integral to membrane				skin(2)|ovary(1)	3						GAGCAGCTATCCCTGGTAAGG	0.512000													53	92					0	0	0.000781405	0	0
ACSM1	116285	broad.mit.edu	37	16	20638546	20638546	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:20638546G>A	uc002dhm.1	-	10	1460	c.1392C>T	c.(1390-1392)TTC>TTT	p.F464F	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.F464F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	464					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2						TCCTCCCCAGGAAACAAATGT	0.507000													99	136					0	0	0.000781405	0	0
GGA2	23062	broad.mit.edu	37	16	23489773	23489773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:23489773G>A	uc002dlq.2	-	13	1284	c.1208C>T	c.(1207-1209)ACG>ATG	p.T403M	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	403	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		GCCTGGCAGCGTGCTGGAGGA	0.527000													24	46					0	0	0.00106085	0	0
PRKCB	5579	broad.mit.edu	37	16	24202506	24202506	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:24202506G>A	uc002dmd.2	+	16	2015	c.1818G>A	c.(1816-1818)GAG>GAA	p.E606E	PRKCB_uc002dme.2_Silent_p.E606E	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	606	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	TTGATTGGGAGAAACTTGAAC	0.478000													43	64					0	0	0.000589545	0	0
CACNG3	10368	broad.mit.edu	37	16	24372868	24372868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:24372868C>T	uc002dmf.2	+	4	1832	c.632C>T	c.(631-633)TCC>TTC	p.S211F		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	211					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		CGAGCCAAATCCCACTCGGAG	0.498000													37	40					0	0	0.000953801	0	0
CACNG3	10368	broad.mit.edu	37	16	24373178	24373178	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:24373178C>T	uc002dmf.2	+	4	2142	c.942C>T	c.(940-942)CCC>CCT	p.P314P		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	314					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)		GCACCACGCCCGTCTGAACTG	0.552000													13	25					0	0	0.000308642	0	0
PAPD5	64282	broad.mit.edu	37	16	50259099	50259099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:50259099G>A	uc010vgo.1	+	11	1693	c.1658G>A	c.(1657-1659)AGA>AAA	p.R553K	PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Intron|PAPD5_uc002ega.2_Missense_Mutation_p.R344K	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAAAATGTAGAAGTAAAACC	0.383000													12	28					0	0	0.000978159	0	0
CHD9	80205	broad.mit.edu	37	16	53190369	53190369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:53190369C>T	uc002ehb.2	+	1	532	c.368C>T	c.(367-369)CCA>CTA	p.P123L	CHD9_uc002egy.2_Missense_Mutation_p.P123L|CHD9_uc002egz.1_Missense_Mutation_p.P123L|CHD9_uc002eha.1_Missense_Mutation_p.P123L|CHD9_uc002ehc.2_Missense_Mutation_p.P123L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	123					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				GATGGCAGTCCAATGTGGGGC	0.408000													70	125					0	0	0.000781405	0	0
EXOC3L	283849	broad.mit.edu	37	16	67221198	67221198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:67221198G>A	uc002erx.1	-	5	1211	c.970C>T	c.(970-972)CTT>TTT	p.L324F	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.L268F|EXOC3L_uc010vje.1_Missense_Mutation_p.L263F	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	324	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		GGCCCTGCAAGGAGGTTCTGC	0.627000													14	22					0	0	0.000219431	0	0
HYDIN	54768	broad.mit.edu	37	16	71163640	71163640	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:71163640T>A	uc002ezr.2	-	9	1258	c.1130A>T	c.(1129-1131)CAT>CTT	p.H377L	HYDIN_uc010cfz.1_Missense_Mutation_p.H122L|HYDIN_uc002ezv.2_Missense_Mutation_p.H377L|HYDIN_uc010vmc.1_Missense_Mutation_p.H394L|HYDIN_uc010vmd.1_Missense_Mutation_p.H404L|HYDIN_uc002ezw.3_Missense_Mutation_p.H394L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	377										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AACAGAAAGATGTTCTCGGAG	0.468000													10	21					0	0	0.00185496	0	0
CALB2	794	broad.mit.edu	37	16	71411590	71411590	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:71411590C>T	uc002faa.3	+	4	352	c.282C>T	c.(280-282)ACC>ACT	p.T94T	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Silent_p.T94T	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	94	EF-hand 2.						calcium ion binding				0		Ovarian(137;0.125)				TCCTGCCAACCGAAGAGAACT	0.547000													23	41					0	0	0.000720815	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77328904	77328904	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:77328904G>A	uc002ffc.3	-	19	3341	c.2922C>T	c.(2920-2922)CTC>CTT	p.L974L	ADAMTS18_uc010chc.1_Silent_p.L562L	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	974	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TCACTGGACAGAGAGAATGCA	0.552000													20	25					0	0	0.00152264	0	0
JPH3	57338	broad.mit.edu	37	16	87723315	87723315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:87723315G>A	uc002fkd.2	+	4	1603	c.1349G>A	c.(1348-1350)GGG>GAG	p.G450E	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	450	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTGTCCACCGGGACACCCCTG	0.652000													13	8					0	0	0.00185496	0	0
SPG7	6687	broad.mit.edu	37	16	89598932	89598932	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:89598932C>T	uc002fnj.2	+	9	1233	c.1212C>T	c.(1210-1212)ATC>ATT	p.I404I	SPG7_uc002fni.2_Silent_p.I404I	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	404	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CCCCCTGCATCGTCTACATCG	0.617000													38	45					0	0	0.000953801	0	0
DPEP1	1800	broad.mit.edu	37	16	89703940	89703940	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr16:89703940C>G	uc010cin.2	+	8	1036	c.833C>G	c.(832-834)GCC>GGC	p.A278G	DPEP1_uc002fnr.3_Missense_Mutation_p.A278G|DPEP1_uc002fns.3_Missense_Mutation_p.A278G	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	278					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	ACCAACAAGGCCAACCTGTCC	0.577000													4	93					0	0	0.00024832	0	0
DPH1	1801	broad.mit.edu	37	17	1943613	1943613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:1943613C>T	uc002fts.2	+	8	884	c.866C>T	c.(865-867)TCC>TTC	p.S289F	DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Missense_Mutation_p.S273F|DPH1_uc010cjx.2_Missense_Mutation_p.S149F|DPH1_uc010vqs.1_Missense_Mutation_p.S299F|DPH1_uc002ftu.2_Missense_Mutation_p.S45F|DPH1_uc002ftv.2_Missense_Mutation_p.S45F|DPH1_uc002ftw.2_Missense_Mutation_p.S17F|OVCA2_uc002ftx.2_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	diptheria toxin resistance protein required for	289					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				pancreas(1)	1						TCAGCTAAGTCCTGGGGCCTT	0.577000													21	21					0	0	0.00121646	0	0
SLC16A13	201232	broad.mit.edu	37	17	6942182	6942182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:6942182G>A	uc002geh.2	+	3	1363	c.1055G>A	c.(1054-1056)GGG>GAG	p.G352E		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	352	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						GAGAGCATCGGGGGGCTGCTG	0.463000													63	36					0	0	0.000781405	0	0
TP53	7157	broad.mit.edu	37	17	7579310	7579310	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:7579310A>G	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGCAACTGACCGTGCAAGT	0.532000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	12					0	0	0.000720815	0	0
MYH4	4622	broad.mit.edu	37	17	10358527	10358527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:10358527C>T	uc002gmn.2	-	20	2371	c.2260G>A	c.(2260-2262)GAA>AAA	p.E754K	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	754	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TGGTCAATTTCAATAGACCCT	0.393000													27	18					0	0	0.000878237	0	0
NCOR1	9611	broad.mit.edu	37	17	15950304	15950304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:15950304G>A	uc002gpo.2	-	42	6880	c.6640C>T	c.(6640-6642)CGT>TGT	p.R2214C	NCOR1_uc002gpn.2_Missense_Mutation_p.R2111C|NCOR1_uc002gpl.2_Missense_Mutation_p.R229C|NCOR1_uc002gpm.2_Missense_Mutation_p.R734C|NCOR1_uc010vwb.1_Missense_Mutation_p.R798C|NCOR1_uc010coy.2_Missense_Mutation_p.R1122C|NCOR1_uc010vwc.1_Missense_Mutation_p.R1024C	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2214	Interaction with C1D (By similarity).|ID2 (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCAACTTACGAAAAATCTCC	0.408000													22	11					0	0	0.000295444	0	0
LGALS9C	654346	broad.mit.edu	37	17	18387210	18387210	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:18387210A>G	uc002gtw.2	+	2	131	c.61A>G	c.(61-63)ATC>GTC	p.I21V	LGALS9C_uc010vyb.1_Intron	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	galectin 9 like	21	Galectin 1.						sugar binding			ovary(1)	1						TTCTGGGACTATCCAAGGGGG	0.582000													31	52					0	0	0.00111076	0	0
WIPF2	147179	broad.mit.edu	37	17	38421357	38421357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:38421357G>A	uc002hug.1	+	5	1169	c.929G>A	c.(928-930)AGG>AAG	p.R310K	WIPF2_uc002huh.1_Missense_Mutation_p.R160K|WIPF2_uc010cww.1_Missense_Mutation_p.R160K|WIPF2_uc002hui.1_Missense_Mutation_p.R310K|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.R310K	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	310						cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CTGAGTAATAGGCCACCTCCC	0.552000										HNSCC(43;0.11)			12	17					0	0	0.00185496	0	0
KRT37	8688	broad.mit.edu	37	17	39578656	39578656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:39578656C>T	uc002hwp.1	-	4	810	c.763G>A	c.(763-765)GAG>AAG	p.E255K	uc002hwo.1_Intron	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	255	Linker 12.|Rod.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				CGGAACTTCTCCCCCAGCTGA	0.557000													46	34					0	0	0.000781405	0	0
GH2	2689	broad.mit.edu	37	17	61958244	61958244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:61958244G>A	uc002jco.1	-	4	406	c.344C>T	c.(343-345)CCC>CTC	p.P115L	GH2_uc002jcj.2_Missense_Mutation_p.P115L|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.P115L|GH2_uc002jcm.1_Missense_Mutation_p.P115L|GH2_uc002jcn.1_Missense_Mutation_p.P100L	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1	115						extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						GAGCTGCACGGGCTCCAGCCA	0.632000													18	9					0	0	0.00074312	0	0
DNAH17	8632	broad.mit.edu	37	17	76455961	76455961	+	Silent	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr17:76455961C>A	uc010dhp.1	-	5	780	c.558G>T	c.(556-558)GCG>GCT	p.A186A	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGATCTTGGCCGCCTTCCAGC	0.597000													26	12					3.73148e-12	2.98518e-11	0.00127121	1	0
KATNAL2	83473	broad.mit.edu	37	18	44580798	44580798	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr18:44580798G>A	uc002lco.2	+	3	299	c.105G>A	c.(103-105)GGG>GGA	p.G35G	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	107						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						GAAGTAGAGGGAAGACCAGAA	0.398000													82	52					0	0	0.000781405	0	0
MYO5B	4645	broad.mit.edu	37	18	47364122	47364122	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr18:47364122G>C	uc002leb.2	-	37	5191	c.4903C>G	c.(4903-4905)CCC>GCC	p.P1635A	MYO5B_uc002ldz.2_Missense_Mutation_p.P205A|MYO5B_uc002lea.2_Missense_Mutation_p.P750A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1635	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		TAGCCGGTGGGCTTCACACCA	0.483000													4	62					0	0	8.12818e-05	0	0
CTDP1	9150	broad.mit.edu	37	18	77475254	77475254	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr18:77475254C>T	uc002lnh.1	+	8	1941	c.1794C>T	c.(1792-1794)GTC>GTT	p.V598V	CTDP1_uc002lni.1_Silent_p.V598V|CTDP1_uc010drd.1_Silent_p.V598V	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	598					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGATCCTGGTCCGTGTACACA	0.517000													4	3					0	0	0.000602214	0	0
REEP6	92840	broad.mit.edu	37	19	1495357	1495357	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:1495357C>T	uc002ltc.2	+	2	284	c.180C>T	c.(178-180)CTC>CTT	p.L60L	REEP6_uc010xgp.1_Silent_p.L60L	NM_138393	NP_612402	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	60	Helical; (Potential).					integral to membrane					0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCAATCTCATCGGATTTG	0.657000													17	29					0	0	0.000958276	0	0
DENND1C	79958	broad.mit.edu	37	19	6479052	6479052	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:6479052G>A	uc002mfe.2	-	5	284	c.192C>T	c.(190-192)CCC>CCT	p.P64P	DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Silent_p.P20P	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	64	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						GCTGCACGGCGGGGCTGGGGG	0.637000													35	60					0	0	0.00058488	0	0
MUC16	94025	broad.mit.edu	37	19	9046631	9046631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:9046631C>T	uc002mkp.2	-	5	35204	c.35000G>A	c.(34999-35001)GGG>GAG	p.G11667E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11669	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						AGTCTGTGTCCCAGGATGGGT	0.517000													22	72					0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9057805	9057805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:9057805C>T	uc002mkp.2	-	3	29845	c.29641G>A	c.(29641-29643)GAG>AAG	p.E9881K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9883	Ser-rich.|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						GTGCTAGTCTCCCTGAATCCA	0.478000													27	49					0	0	0.000878237	0	0
Unknown	0	broad.mit.edu	37	19	9801776	9801776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:9801776C>T	uc010xkx.1	-	3	714	c.91G>A	c.(91-93)GAA>AAA	p.E31K						RecName: Full=Zinc finger protein 562;																		TTGGAAAGTTCCTGTCCAATA	0.398000													16	27					0	0	0.00074312	0	0
TYK2	7297	broad.mit.edu	37	19	10463201	10463201	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:10463201T>C	uc002moc.3	-	23	3605	c.3227A>G	c.(3226-3228)TAT>TGT	p.Y1076C	TYK2_uc010dxe.2_Missense_Mutation_p.Y891C	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1076	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GTAGAACTTATACTCCTTCAG	0.627000													39	51					0	0	0.00170553	0	0
NFIX	4784	broad.mit.edu	37	19	13192606	13192606	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:13192606G>A	uc010xmx.1	+	8	1268	c.1215G>A	c.(1213-1215)CAG>CAA	p.Q405Q	NFIX_uc002mwd.2_Silent_p.Q397Q|NFIX_uc002mwe.2_Silent_p.Q389Q|NFIX_uc002mwf.2_Silent_p.Q359Q|NFIX_uc002mwg.1_Silent_p.Q396Q			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	397					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACCACGGGCAGGACTCACTGA	0.637000											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	23					0	0	0.000958276	0	0
CACNA1A	773	broad.mit.edu	37	19	13356002	13356002	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:13356002C>G	uc010dze.2	-	31	5183	c.4947G>C	c.(4945-4947)GAG>GAC	p.E1649D	CACNA1A_uc010xnd.1_Missense_Mutation_p.E354D|CACNA1A_uc002mwx.3_Missense_Mutation_p.E354D|CACNA1A_uc010dzc.2_Missense_Mutation_p.E1174D|CACNA1A_uc002mwy.3_Missense_Mutation_p.E1648D|CACNA1A_uc010xne.1_Missense_Mutation_p.E1177D|CACNA1A_uc002mwv.3_Missense_Mutation_p.E165D	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1649	Extracellular (Potential).|IV.	Binds to omega-Aga-IVA (By similarity).			cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTACCCCAAACTCAGTCACGA	0.587000													5	54					0	0	0.000157383	0	0
CPAMD8	27151	broad.mit.edu	37	19	17049249	17049250	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:17049249_17049250CC>TT	uc002nfb.2	-	23	2973_2974	c.2941_2942GG>AA	c.(2941-2943)GGA>AAA	p.G981K		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	934						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CCGGGGGACTCCTTCCGCCTGA	0.599000													3	7					0	0	6.4e-05	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088187	17088187	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:17088187G>A	uc002nfb.2	-	15	1922	c.1890C>T	c.(1888-1890)TTC>TTT	p.F630F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	583						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CCTGGTTTTCGAAGAAGGTCT	0.612000													40	49					0	0	0.000781405	0	0
MYO9B	4650	broad.mit.edu	37	19	17295779	17295779	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:17295779A>G	uc010eak.2	+	17	2631	c.2479A>G	c.(2479-2481)ATC>GTC	p.I827V	MYO9B_uc002nfi.2_Missense_Mutation_p.I827V|MYO9B_uc002nfj.1_Missense_Mutation_p.I827V	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	827	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						GCCACCAAGCATCAGCGCCCA	0.562000													38	62					0	0	0.00195071	0	0
SLC25A42	284439	broad.mit.edu	37	19	19217190	19217190	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:19217190G>T	uc002nlf.1	+	6	644	c.493G>T	c.(493-495)GAA>TAA	p.E165*	SLC25A42_uc010xqn.1_Nonsense_Mutation_p.E217*	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	165	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AACCCCGAAGGAAATGTGAGT	0.652000													6	21					8.12818e-05	0.000641631	8.12818e-05	1	0
KRTDAP	388533	broad.mit.edu	37	19	35979739	35979739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:35979739C>T	uc002nzh.2	-	2	103	c.91G>A	c.(91-93)GAA>AAA	p.E31K		NM_207392	NP_997275	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	31					cell differentiation	extracellular region					0	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATGGTGCTTTCTTCCTGGAAA	0.572000													26	44					0	0	0.00178596	0	0
RYR1	6261	broad.mit.edu	37	19	39075739	39075739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:39075739G>A	uc002oit.2	+	102	14933	c.14803G>A	c.(14803-14805)GGT>AGT	p.G4935S	RYR1_uc002oiu.2_Missense_Mutation_p.G4930S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4935	Helical; Name=M10; (Potential).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCATCCAGGGTCAGTGCTG	0.408000													10	9					0	0	0.00136819	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190895	42190896	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:42190895_42190896GG>AA	uc002ori.1	-	2	323_324	c.321_322CC>TT	c.(319-324)ACCCTG>ACTTTG	p.107_108TL>TL	CEACAM7_uc010ehx.2_Silent_p.107_108TL>TL|CEACAM7_uc010ehy.1_Silent_p.107_108TL>TL	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	107_108	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGGATCAGCAGGGTTCCATTGG	0.416000													60	204					0	0	6.4e-05	0	0
CIC	23152	broad.mit.edu	37	19	42798167	42798167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:42798167C>T	uc002otf.1	+	17	4161	c.4121C>T	c.(4120-4122)CCC>CTC	p.P1374L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CTGCCCTCCCCCACCCTGCAG	0.637000			T	DUX4	soft tissue sarcoma								25	84					0	0	0.00047179	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461731	50461731	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:50461731C>T	uc010ybh.1	-	8	1551	c.1460G>A	c.(1459-1461)TGG>TAG	p.W487*	SIGLEC11_uc010ybi.1_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1	487	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCCAAGCCACCAGCGCAGAGA	0.701000													9	5					0	0	0.000978159	0	0
ZNF331	55422	broad.mit.edu	37	19	54080023	54080023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:54080023G>A	uc002qbx.1	+	7	1643	c.209G>A	c.(208-210)AGG>AAG	p.R70K	ZNF331_uc002qby.1_Missense_Mutation_p.R70K|ZNF331_uc002qbz.1_Missense_Mutation_p.R70K|ZNF331_uc002qca.1_Missense_Mutation_p.R70K|ZNF331_uc010eqr.1_Missense_Mutation_p.R70K|ZNF331_uc002qcb.1_Missense_Mutation_p.R70K|ZNF331_uc002qcc.1_Missense_Mutation_p.R70K|ZNF331_uc002qcd.1_Missense_Mutation_p.R70K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		GCTTCCAAAAGGAATTCAGAT	0.388000			T	?	follicular thyroid adenoma								22	18					0	0	0.00188189	0	0
NLRP5	126206	broad.mit.edu	37	19	56539552	56539552	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:56539552C>T	uc002qmj.2	+	7	1953	c.1953C>T	c.(1951-1953)GTC>GTT	p.V651V	NLRP5_uc002qmi.2_Silent_p.V632V	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	651						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CACTGGAGGTCCTGCTGGGCT	0.582000													27	8					0	0	0.00127121	0	0
C19orf18	147685	broad.mit.edu	37	19	58472777	58472777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:58472777C>T	uc002qqv.2	-	5	618	c.514G>A	c.(514-516)GAA>AAA	p.E172K		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	hypothetical protein LOC147685 precursor	172	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATGAACTTTTCCAGCTCATTT	0.488000													27	12					0	0	0.000339439	0	0
OTOF	9381	broad.mit.edu	37	2	26781361	26781361	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:26781361C>G	uc002rhk.2	-	1	206	c.79G>C	c.(79-81)GGG>CGG	p.G27R		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	27	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCCCTACCTCGGAAAGTC	0.652000													26	45					0	0	0.001512	0	0
DPYSL5	56896	broad.mit.edu	37	2	27150151	27150151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:27150151G>A	uc002rhu.3	+	4	609	c.451G>A	c.(451-453)GAG>AAG	p.E151K	DPYSL5_uc002rhv.3_Missense_Mutation_p.E151K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	151					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGTGAGGGAGAAGGGTGT	0.542000													10	10					0	0	0.000978159	0	0
PLB1	151056	broad.mit.edu	37	2	28843798	28843798	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:28843798G>A	uc002rmb.1	+	49	3480	c.3480G>A	c.(3478-3480)TGG>TGA	p.W1160*	PLB1_uc010ezj.1_Nonsense_Mutation_p.W1149*|PLB1_uc002rme.1_Nonsense_Mutation_p.W125*|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1160	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCAGCACCTGGGAGGGGACAG	0.562000													33	63					0	0	0.00111076	0	0
TTC27	55622	broad.mit.edu	37	2	32859011	32859011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:32859011C>T	uc002rom.2	+	3	566	c.335C>T	c.(334-336)CCC>CTC	p.P112L	TTC27_uc010ymx.1_Missense_Mutation_p.P62L	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	112							protein binding			central_nervous_system(1)	1						TGGACGGGGCCCCCTGTTGAC	0.363000													35	98					0	0	0.00148497	0	0
ABCG8	64241	broad.mit.edu	37	2	44102292	44102292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:44102292G>A	uc002rtq.2	+	11	1586	c.1496G>A	c.(1495-1497)GGG>GAG	p.G499E	ABCG8_uc010yoa.1_Missense_Mutation_p.G498E	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	499	ABC transmembrane type-2.|Helical; Name=3; (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGATCCTCGGGGAGCTTCCG	0.542000													112	161					0	0	0.000781405	0	0
NRXN1	9378	broad.mit.edu	37	2	51254945	51254945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:51254945C>T	uc010fbq.2	-	2	1944	c.467G>A	c.(466-468)GGG>GAG	p.G156E	NRXN1_uc002rxe.3_Missense_Mutation_p.G156E|NRXN1_uc002rxd.1_Missense_Mutation_p.G156E	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGGCAGCCCCCCGACGAAAAG	0.662000													7	15					0	0	8.12818e-05	0	0
USP34	9736	broad.mit.edu	37	2	61454326	61454326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:61454326C>T	uc002sbe.2	-	62	7493	c.7471G>A	c.(7471-7473)GAA>AAA	p.E2491K	USP34_uc002sbf.2_Missense_Mutation_p.E641K	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2491					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			tcttccccttcttcctctGAT	0.274000													7	9					0	0	8.12818e-05	0	0
SFXN5	94097	broad.mit.edu	37	2	73188368	73188368	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:73188368G>A	uc002siq.2	-	13	968	c.837C>T	c.(835-837)CTC>CTT	p.L279L	SFXN5_uc002sio.2_Silent_p.L171L|SFXN5_uc010yrc.1_Silent_p.L128L|SFXN5_uc002sip.2_Intron|SFXN5_uc010fet.2_Missense_Mutation_p.S212F|SFXN5_uc010fer.2_Intron|SFXN5_uc010feq.2_Silent_p.L61L|SFXN5_uc010fes.2_Silent_p.L61L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	279					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1						GTGCCTGCAGGAGAGCCGTCC	0.687000													7	17					0	0	0.000274275	0	0
Unknown	0	broad.mit.edu	37	2	89495643	89495643	+	RNA	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:89495643C>T	uc010ytr.1	-	25		c.3218G>A			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																		AGTGTGAAATCTGTCCCTGAC	0.532000													12	19					0	0	0.000308642	0	0
ASTL	431705	broad.mit.edu	37	2	96799703	96799703	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:96799703C>T	uc010yui.1	-	4	337	c.337_splice	c.e4+1	p.D113_splice		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor						proteolysis		metalloendopeptidase activity|zinc ion binding				0						TGCTCACTCACCGTACTTGCT	0.582000													7	13					0	0	0.000157383	0	0
RGPD4	285190	broad.mit.edu	37	2	108488586	108488586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:108488586G>A	uc010ywk.1	+	20	4208	c.4126G>A	c.(4126-4128)GAA>AAA	p.E1376K	RGPD4_uc002tdu.2_Missense_Mutation_p.E563K|RGPD4_uc010ywl.1_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1376	RanBD1 2.				intracellular transport		binding			skin(2)	2						TCAATGGAAAGAAAGGGGCAT	0.348000													75	150					0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152408283	152408283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:152408283C>T	uc010fnx.2	-	101	15001	c.14810G>A	c.(14809-14811)CGG>CAG	p.R4937Q	NEB_uc002txr.2_Missense_Mutation_p.R1360Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4937	Nebulin 135.				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)		ATGAAGGGCCCGGTCCAGATC	0.517000													10	28					0	0	0.000978159	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555338	155555338	+	Silent	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:155555338A>G	uc002tyv.1	+	1	246	c.51A>G	c.(49-51)ACA>ACG	p.T17T	KCNJ3_uc010zce.1_Silent_p.T17T	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	17	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TAGTGACCACATCGTCCAGCG	0.597000													34	49					0	0	0.00111076	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566133	155566133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:155566133G>A	uc002tyv.1	+	2	916	c.721G>A	c.(721-723)GGT>AGT	p.G241S	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	241	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	GACACCTGAGGGTGAGTTCCT	0.443000													32	53					0	0	0.000692331	0	0
GPD2	2820	broad.mit.edu	37	2	157439371	157439371	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:157439371G>C	uc002tzf.3	+	17	2485	c.2125G>C	c.(2125-2127)GAA>CAA	p.E709Q	GPD2_uc010zch.1_Missense_Mutation_p.E482Q|GPD2_uc002tzd.3_Missense_Mutation_p.E709Q|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	709					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						GAAAACTGCAGAAGAGAACCT	0.438000													6	72					0	0	0.000157383	0	0
ITGB6	3694	broad.mit.edu	37	2	160980358	160980359	+	Missense_Mutation	DNP	CG	AT	AT	rs61737767		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:160980358_160980359CG>AT	uc002ubh.2	-	12	1940_1941	c.1924_1925CG>AT	c.(1924-1926)CGA>ATA	p.R642I	ITGB6_uc010fou.2_Missense_Mutation_p.R642I|ITGB6_uc010zcq.1_Missense_Mutation_p.R600I|ITGB6_uc010fov.1_Missense_Mutation_p.R642I	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	642	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						ACATTCTTCTCGGGCTTGGCCA	0.455000													5	119					0	0	6.4e-05	0	0
SLC25A12	8604	broad.mit.edu	37	2	172666182	172666182	+	Silent	SNP	A	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:172666182A>C	uc002uhh.2	-	13	1328	c.1239T>G	c.(1237-1239)GTT>GTG	p.V413V	SLC25A12_uc010fqh.2_Silent_p.V306V	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	413	Solcar 1.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ATTTGTCCCGAACAAAATCAT	0.393000													43	92					0	0	0.000680045	0	0
DFNB59	494513	broad.mit.edu	37	2	179325898	179325898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179325898G>A	uc002umi.3	+	7	1312	c.956G>A	c.(955-957)AGG>AAG	p.R319K	DFNB59_uc002umj.3_Missense_Mutation_p.R319K	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	319					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AACTTCAAAAGGGAGACAGTT	0.413000													56	71					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179417368	179417368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179417368C>T	uc010zfg.1	-	284	82779	c.82555G>A	c.(82555-82557)GAA>AAA	p.E27519K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E21214K|TTN_uc010zfi.1_Missense_Mutation_p.E21147K|TTN_uc010zfj.1_Missense_Mutation_p.E21022K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28446							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)			ACCTCAATTTCACATGTCTTA	0.448000													29	36					0	0	0.000339439	0	0
TTN	7273	broad.mit.edu	37	2	179469522	179469522	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179469522G>A	uc010zfg.1	-	230	46814	c.46590C>T	c.(46588-46590)ACC>ACT	p.T15530T	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T9225T|TTN_uc010zfi.1_Silent_p.T9158T|TTN_uc010zfj.1_Silent_p.T9033T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16457							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)			TAACATAATGGGTGATTTCAC	0.438000													34	47					0	0	0.000409698	0	0
TTN	7273	broad.mit.edu	37	2	179583192	179583192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179583192G>A	uc010zfg.1	-	82	21133	c.20909C>T	c.(20908-20910)TCT>TTT	p.S6970F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3631F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7897							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)			GCATCTCTCAGATTGTGAAAT	0.423000													21	29					0	0	0.000295444	0	0
TTN	7273	broad.mit.edu	37	2	179598041	179598041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179598041C>T	uc010zfg.1	-	51	12471	c.12247G>A	c.(12247-12249)GAC>AAC	p.D4083N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D744N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5010							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)			TGGCCACTGTCGTGCAGCTCA	0.398000													42	60					0	0	0.000437636	0	0
TTN	7273	broad.mit.edu	37	2	179606459	179606459	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179606459C>G	uc010zfh.1	-	46	11212	c.10988G>C	c.(10987-10989)GGG>GCG	p.G3663A	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.G3596A|TTN_uc010zfj.1_Missense_Mutation_p.G3471A|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3635							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)			AGCCACATCCCCCATGCTTAT	0.413000													3	60					0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179642182	179642182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179642182C>T	uc010zfg.1	-	26	4834	c.4610G>A	c.(4609-4611)GGC>GAC	p.G1537D	TTN_uc010zfh.1_Missense_Mutation_p.G1491D|TTN_uc010zfi.1_Missense_Mutation_p.G1491D|TTN_uc010zfj.1_Missense_Mutation_p.G1491D|TTN_uc002unb.2_Missense_Mutation_p.G1537D|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1537							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)			TGAAGATCTGCCTGCCCTGTT	0.358000													15	30					0	0	0.000422831	0	0
CCDC141	285025	broad.mit.edu	37	2	179718295	179718295	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:179718295G>A	uc002unf.1	-	10	1449	c.1392C>T	c.(1390-1392)TCC>TCT	p.S464S		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	464							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)			TGCACTCTGTGGAATATTTTC	0.403000													35	46					0	0	0.000491102	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731167	185731167	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:185731167C>T	uc002uph.2	+	2	777	c.183C>T	c.(181-183)CTC>CTT	p.L61L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	61	C2H2-type.					intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						ACTGTGAACTCTGTGACAAGC	0.368000													15	31					0	0	0.000308642	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801484	185801484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:185801484C>T	uc002uph.2	+	4	1955	c.1361C>T	c.(1360-1362)TCC>TTC	p.S454F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	454						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						CCATCAATTTCCTATAGCTGT	0.348000													39	73					0	0	0.000953801	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209168922	209168922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:209168922C>T	uc002vcz.2	+	11	1506	c.1348C>T	c.(1348-1350)CCC>TCC	p.P450S	PIKFYVE_uc010fun.1_Missense_Mutation_p.P131S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P450S|PIKFYVE_uc002vcv.2_Missense_Mutation_p.P353S|PIKFYVE_uc002vcw.2_Missense_Mutation_p.P450S|PIKFYVE_uc002vcx.2_Missense_Mutation_p.P364S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	450					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						GACGCCTTCTCCCGACAGTGA	0.443000													21	45					0	0	0.00188189	0	0
ZNF142	7701	broad.mit.edu	37	2	219507273	219507273	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:219507273C>G	uc002vin.2	-	8	4402	c.3966G>C	c.(3964-3966)GAG>GAC	p.E1322D	ZNF142_uc002vil.2_Missense_Mutation_p.E1283D|ZNF142_uc010fvt.2_Missense_Mutation_p.E1159D|ZNF142_uc002vim.2_Missense_Mutation_p.E1159D	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCTCAGTGGTCTCTGCAGGAG	0.637000													16	29					0	0	0.00074312	0	0
SPEG	10290	broad.mit.edu	37	2	220354210	220354210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:220354210C>T	uc010fwg.2	+	36	8470	c.8470C>T	c.(8470-8472)CCC>TCC	p.P2824S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2824	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTCATCTCCCCCCACACC	0.692000													18	19					0	0	0.000958276	0	0
COL4A4	1286	broad.mit.edu	37	2	227915767	227915767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:227915767G>A	uc010zlt.1	-	33	3730	c.3076C>T	c.(3076-3078)CCT>TCT	p.P1026S		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1026	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)		GGGGGTCCAGGAGGCCCTGGC	0.587000													35	52					0	0	0.00128727	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883267	228883267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:228883267G>A	uc002vpq.2	-	7	2350	c.2303C>T	c.(2302-2304)TCC>TTC	p.S768F	SPHKAP_uc002vpp.2_Missense_Mutation_p.S768F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S768F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	768						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGCTGGAGGATTCAGTGGC	0.493000													48	76					0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884482	228884482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:228884482C>T	uc002vpq.2	-	7	1135	c.1088G>A	c.(1087-1089)AGA>AAA	p.R363K	SPHKAP_uc002vpp.2_Missense_Mutation_p.R363K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R363K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	363						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAGGTTGCTTCTCTGCTCTGC	0.438000													28	46					0	0	0.000409698	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911383	230911383	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:230911383G>A	uc002vqd.1	-	4	822	c.459C>T	c.(457-459)TTC>TTT	p.F153F	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Silent_p.F153F|SLC16A14_uc002vqf.2_Silent_p.F153F	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	153	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTCTCTTCTGGAAATACCTGC	0.617000													13	23					0	0	0.00185496	0	0
HTR2B	3357	broad.mit.edu	37	2	231973408	231973408	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:231973408C>T	uc002vro.2	-	4	1774	c.1269G>A	c.(1267-1269)GAG>GAA	p.E423E	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Silent_p.E356E	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	423	Cytoplasmic (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ACTTAGAGTTCTCTGCCATTG	0.433000													23	41					0	0	0.000295444	0	0
COPS7B	64708	broad.mit.edu	37	2	232672283	232672283	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:232672283C>T	uc002vsg.1	+	7	826	c.723C>T	c.(721-723)CCC>CCT	p.P241P	COPS7B_uc010fxy.1_Silent_p.P207P|COPS7B_uc002vsh.1_Missense_Mutation_p.P259L|COPS7B_uc002vsi.1_Silent_p.P134P|COPS7B_uc002vsj.1_RNA|COPS7B_uc002vsk.1_Silent_p.P134P	NM_022730	NP_073567	Q9H9Q2	CSN7B_HUMAN	COP9 constitutive photomorphogenic homolog	241					cullin deneddylation	cytoplasm|signalosome				ovary(1)|liver(1)|skin(1)	3		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGAGTGTCCCCCTCACGCTG	0.602000													8	4					0	0	0.000157383	0	0
CHRNG	1146	broad.mit.edu	37	2	233409492	233409492	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:233409492G>A	uc002vsx.1	+	11	1281	c.1260G>A	c.(1258-1260)CCG>CCA	p.P420P	CHRNG_uc010fye.1_Silent_p.P368P	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	420	Cytoplasmic (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		AGAAAGGCCCGGAGTTAGGGC	0.582000													24	40					0	0	0.001512	0	0
COL6A3	1293	broad.mit.edu	37	2	238267684	238267684	+	Silent	SNP	T	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr2:238267684T>A	uc002vwl.2	-	20	6687	c.6402A>T	c.(6400-6402)GGA>GGT	p.G2134G	COL6A3_uc002vwo.2_Silent_p.G1928G|COL6A3_uc010znj.1_Silent_p.G1527G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2134	Triple-helical region.|Collagen-like 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTACCCTTCTTCCAGGATTCC	0.408000													170	235					0	0	0.000781405	0	0
OVOL2	58495	broad.mit.edu	37	20	18022193	18022193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:18022193C>T	uc002wqi.1	-	3	739	c.496G>A	c.(496-498)GTC>ATC	p.V166I		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	zinc finger protein 339	166	C2H2-type 2.				negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1						TGTGTGCGGACGTGCCTCTTC	0.532000													20	17					0	0	0.00188189	0	0
CEP250	11190	broad.mit.edu	37	20	34053976	34053976	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:34053976C>G	uc002xcm.2	+	8	1110	c.439C>G	c.(439-441)CGG>GGG	p.R147G	CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'Flank	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	147	Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGACTGGAGCCGGGCCCGGGA	0.537000													6	8					0	0	0.00116845	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841569	36841570	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:36841569_36841570GG>AA	uc002xhy.1	-	14	3749_3750	c.3477_3478CC>TT	c.(3475-3480)TTCCGG>TTTTGG	p.R1160W	KIAA1755_uc002xhv.1_Missense_Mutation_p.R224W|KIAA1755_uc002xhw.1_Missense_Mutation_p.R215W|KIAA1755_uc002xhx.1_Missense_Mutation_p.R438W	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	1160										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				GGCTGCTGCCGGAAGAAGGTGG	0.649000													27	51					0	0	6.4e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	41385183	41385183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:41385183G>A	uc002xkg.2	-	6	962	c.778C>T	c.(778-780)CGG>TGG	p.R260W	PTPRT_uc010ggj.2_Missense_Mutation_p.R260W	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	260	Extracellular (Potential).|Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGACGCTCCGCTGGGCAGTG	0.607000													17	18					0	0	0.00074312	0	0
ZNF334	55713	broad.mit.edu	37	20	45130122	45130122	+	Missense_Mutation	SNP	C	T	T	rs146816699	byFrequency	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:45130122C>T	uc002xsc.2	-	5	2040	c.1856G>A	c.(1855-1857)AGA>AAA	p.R619K	ZNF334_uc002xsa.2_Missense_Mutation_p.R642K|ZNF334_uc002xsb.2_Missense_Mutation_p.R581K|ZNF334_uc002xsd.2_Missense_Mutation_p.R581K|ZNF334_uc010ghl.2_Missense_Mutation_p.R618K	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	619	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GTGAATTCTTCTATGGACTCT	0.428000													36	59					0	0	0.00111076	0	0
LAMA5	3911	broad.mit.edu	37	20	60899214	60899214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr20:60899214G>A	uc002ycq.2	-	43	5757	c.5690C>T	c.(5689-5691)GCT>GTT	p.A1897V		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1897	Laminin EGF-like 17.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACGAAGCCAGCCTGGCAGCG	0.652000													17	21					0	0	0.000295444	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688664	26688664	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr22:26688664G>A	uc003acb.2	+	2	543	c.387G>A	c.(385-387)AGG>AGA	p.R129R	SEZ6L_uc003acc.2_Silent_p.R129R|SEZ6L_uc011akc.1_Silent_p.R129R|SEZ6L_uc003acd.2_Silent_p.R129R|SEZ6L_uc011akd.1_Silent_p.R129R|SEZ6L_uc003ace.2_Silent_p.R129R|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	129	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						ACTCTGCCAGGAAGCAGCTGA	0.652000													17	16					0	0	0.000958276	0	0
FBXO7	25793	broad.mit.edu	37	22	32887122	32887122	+	Silent	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr22:32887122C>G	uc003amq.2	+	6	1204	c.921C>G	c.(919-921)CTC>CTG	p.L307L	FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amr.2_Silent_p.L193L|FBXO7_uc003ams.2_Silent_p.L151L|FBXO7_uc003amt.2_Silent_p.L228L|FBXO7_uc003amu.2_Silent_p.L193L|FBXO7_uc003amv.2_5'Flank	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	307					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						TCTCTCGCCTCTTTAAAGACC	0.333000													50	99					0	0	0.000781405	0	0
CHL1	10752	broad.mit.edu	37	3	432815	432815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:432815C>T	uc003bou.2	+	21	2987	c.2716C>T	c.(2716-2718)CCT>TCT	p.P906S	CHL1_uc003bot.2_Missense_Mutation_p.P922S|CHL1_uc003bow.1_Missense_Mutation_p.P906S|CHL1_uc011asi.1_Missense_Mutation_p.P922S	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	906	Fibronectin type-III 3.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGAAAGTGAGCCTTATATATT	0.378000													20	39					0	0	0.000295444	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606092	21606092	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:21606092T>G	uc003cce.2	-	3	658	c.250A>C	c.(250-252)ATT>CTT	p.I84L	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	84	Matrin-type 1.					nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						AACTGGCAAATGTTGCATGAT	0.338000													28	34					0	0	0.001512	0	0
SLC4A7	9497	broad.mit.edu	37	3	27433266	27433266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:27433266G>A	uc003cdv.2	-	21	3195	c.3124C>T	c.(3124-3126)CTT>TTT	p.L1042F	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.L923F|SLC4A7_uc011aww.1_Missense_Mutation_p.L1051F|SLC4A7_uc011awx.1_Missense_Mutation_p.L1038F|SLC4A7_uc011awy.1_Missense_Mutation_p.L1034F|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.L923F|SLC4A7_uc011axb.1_Missense_Mutation_p.L1038F|SLC4A7_uc010hfl.2_Missense_Mutation_p.L592F|SLC4A7_uc003cdw.2_Missense_Mutation_p.L918F	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	1042	Helical; (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						CCCATATAAAGGAAAACACCA	0.284000													11	19					0	0	0.00185496	0	0
MYD88	4615	broad.mit.edu	37	3	38181402	38181402	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:38181402G>C	uc003chx.2	+	2	599	c.415G>C	c.(415-417)GAG>CAG	p.E139Q	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Missense_Mutation_p.E139Q|MYD88_uc011ayi.1_Missense_Mutation_p.E139Q|MYD88_uc011ayj.1_Missense_Mutation_p.E139Q|MYD88_uc011ayk.1_Intron|MYD88_uc011ayl.1_Intron	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	126	Intermediate domain (By similarity).				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGAGGAGGCTGAGAAGCCTTT	0.557000			Mis 		ABC-DLBCL								3	80					0	0	6.4e-05	0	0
SCN5A	6331	broad.mit.edu	37	3	38674791	38674791	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:38674791T>C	uc003cio.2	-	2	202	c.8A>G	c.(7-9)AAC>AGC	p.N3S	SCN5A_uc003cin.2_Missense_Mutation_p.N3S|SCN5A_uc003cil.3_Missense_Mutation_p.N3S|SCN5A_uc010hhi.2_Missense_Mutation_p.N3S|SCN5A_uc010hhk.2_Missense_Mutation_p.N3S|SCN5A_uc011ayr.1_Missense_Mutation_p.N3S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	3					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TAATAGGAAGTTTGCCATCTT	0.592000													13	38					0	0	0.000422831	0	0
CLEC3B	7123	broad.mit.edu	37	3	45067941	45067941	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:45067941G>A	uc003cok.3	+	1	183	c.87G>A	c.(85-87)AAG>AAA	p.K29K		NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	29					skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGCCCAAGAAGATTGTAA	0.602000													15	13					0	0	0.00074312	0	0
PTPN23	25930	broad.mit.edu	37	3	47449887	47449887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:47449887G>A	uc003crf.1	+	15	1333	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T	PTPN23_uc011baw.1_Missense_Mutation_p.A378T|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.A283T	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	413					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAACCTTGATGCCTACAGCCA	0.587000													22	26					0	0	0.000375601	0	0
TNNC1	7134	broad.mit.edu	37	3	52485804	52485804	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:52485804C>T	uc003deb.2	-	4	299	c.273G>A	c.(271-273)GGG>GGA	p.G91G		NM_003280	NP_003271	P63316	TNNC1_HUMAN	troponin C, slow	91					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding				0				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CCTCAGATTTCCCTTTGCTGT	0.567000													27	49					0	0	0.000409698	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537535	54537535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:54537535C>T	uc003dhf.2	+	5	446	c.398C>T	c.(397-399)GCT>GTT	p.A133V	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.A39V|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	133	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TACTTCAATGCTGTGCTGATA	0.418000													41	67					0	0	0.000781405	0	0
IL17RD	54756	broad.mit.edu	37	3	57143635	57143635	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:57143635G>A	uc003dil.2	-	5	569	c.480C>T	c.(478-480)TTC>TTT	p.F160F	IL17RD_uc003dik.2_Silent_p.F136F|IL17RD_uc010hna.2_Silent_p.F16F|IL17RD_uc011bex.1_Silent_p.F16F	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	160	Extracellular (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CAACCTTTACGAAATAATCCG	0.413000													31	46					0	0	0.00178596	0	0
PPP4R2	151987	broad.mit.edu	37	3	73114652	73114652	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:73114652C>T	uc003dph.1	+	9	1103	c.1033C>T	c.(1033-1035)CAA>TAA	p.Q345*	PPP4R2_uc003dpi.1_Nonsense_Mutation_p.Q288*	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	345	Glu-rich.				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGAAAATAATCAAATGGAGGA	0.373000													40	91					0	0	0.000437636	0	0
COL8A1	1295	broad.mit.edu	37	3	99513893	99513893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:99513893C>T	uc003dtg.1	+	5	1393	c.1148C>T	c.(1147-1149)CCA>CTA	p.P383L	COL8A1_uc003dth.1_Missense_Mutation_p.P383L|COL8A1_uc003dti.1_Missense_Mutation_p.P384L	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	383	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						ATAGGTGCCCCAGGAATAGGG	0.597000													12	15					0	0	0.00136819	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416568	121416568	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:121416568C>G	uc003eei.3	-	13	2913	c.2787G>C	c.(2785-2787)AAG>AAC	p.K929N	GOLGB1_uc010hrc.2_Missense_Mutation_p.K934N|GOLGB1_uc003eej.3_Missense_Mutation_p.K895N|GOLGB1_uc011bjm.1_Missense_Mutation_p.K815N|GOLGB1_uc010hrd.1_Missense_Mutation_p.K893N	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	929	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CTTTAAGAGTCTTAATTTCAA	0.358000													35	58					0	0	0.00128727	0	0
CASR	846	broad.mit.edu	37	3	121973151	121973151	+	Missense_Mutation	SNP	C	T	T	rs121909262		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:121973151C>T	uc003eev.3	+	2	487	c.115C>T	c.(115-117)CCT>TCT	p.P39S	CASR_uc003eew.3_Missense_Mutation_p.P39S	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	39	Extracellular (Potential).		P -> A (in FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGGGCTCTTTCCTATTCATTT	0.527000													34	50					0	0	0.000814825	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646720	122646720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:122646720G>A	uc003efz.1	-	8	1071	c.767C>T	c.(766-768)TCA>TTA	p.S256L	SEMA5B_uc011bju.1_Missense_Mutation_p.S198L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S256L|SEMA5B_uc010hro.1_Missense_Mutation_p.S198L|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	256	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GTCCCGACCTGAGAAGTCGAT	0.607000													20	43					0	0	0.00152264	0	0
UROC1	131669	broad.mit.edu	37	3	126218899	126218900	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:126218899_126218900CC>TT	uc003eiz.1	-	12	1275	c.1243_splice	c.e12+1	p.G415_splice	UROC1_uc010hsi.1_Splice_Site_p.G475_splice	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1						histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		cttcctcctACCTGCTCTCTGG	0.535000													9	25					0	0	6.4e-05	0	0
TM4SF4	7104	broad.mit.edu	37	3	149193692	149193692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:149193692G>A	uc003exd.1	+	2	488	c.257G>A	c.(256-258)CGA>CAA	p.R86Q		NM_004617	NP_004608	P48230	T4S4_HUMAN	transmembrane 4 superfamily member 4	86	Cytoplasmic (Potential).					integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGTGGGAAGCGATTTGCGGTG	0.552000													9	6					0	0	0.000978159	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908061	164908061	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr3:164908061G>A	uc003fej.3	-	2	1002	c.558C>T	c.(556-558)CCC>CCT	p.P186P	SLITRK3_uc003fek.2_Silent_p.P186P	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	186	LRR 5.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						TTGGAAGCATGGGGATGAGAT	0.383000										HNSCC(40;0.11)			23	31					0	0	0.000375601	0	0
ATP8A1	10396	broad.mit.edu	37	4	42445613	42445613	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:42445613G>C	uc003gwr.2	-	33	3324	c.3092C>G	c.(3091-3093)GCC>GGC	p.A1031G	ATP8A1_uc003gwq.2_Missense_Mutation_p.A257G|ATP8A1_uc003gws.2_Missense_Mutation_p.A1016G	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1031	Extracellular (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	CATCGGAATGGCAGGCCACAG	0.448000													14	12					0	0	0.000422831	0	0
EPHA5	2044	broad.mit.edu	37	4	66535317	66535317	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:66535317G>A	uc003hcy.2	-	1	337	c.144C>T	c.(142-144)GCC>GCT	p.A48A	EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Silent_p.A48A|EPHA5_uc011cah.1_Silent_p.A48A|EPHA5_uc011cai.1_Silent_p.A48A|EPHA5_uc003hda.2_Silent_p.A48A|uc003hdb.2_5'Flank	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	48	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TCCGGAGTGCGGCGCACAGGA	0.726000										TSP Lung(17;0.13)			3	8					0	0	6.4e-05	0	0
ATOH1	474	broad.mit.edu	37	4	94751094	94751094	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:94751094G>A	uc003hta.1	+	1	1017	c.1017G>A	c.(1015-1017)GGG>GGA	p.G339G		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	atonal homolog 1	339					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GAAGCGACGGGGAATTTTCCC	0.517000													33	12					0	0	0.000814825	0	0
MANBA	4126	broad.mit.edu	37	4	103556010	103556010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:103556010G>A	uc003hwg.2	-	16	2450	c.2350C>T	c.(2350-2352)CCG>TCG	p.P784S	MANBA_uc011ces.1_Missense_Mutation_p.P727S	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	784					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TAGTTGGTCGGGCTCAGGAGT	0.557000													15	8					0	0	0.00074312	0	0
TACR3	6870	broad.mit.edu	37	4	104512747	104512747	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:104512747G>C	uc003hxe.1	-	4	1125	c.982C>G	c.(982-984)CTA>GTA	p.L328V		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	328	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CATCTATTTAGTTGTTGATAG	0.388000													3	31					0	0	6.4e-05	0	0
TET2	54790	broad.mit.edu	37	4	106157973	106157973	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:106157973G>A	uc003hxk.2	+	3	3260	c.2874G>A	c.(2872-2874)CAG>CAA	p.Q958Q	TET2_uc011cez.1_Silent_p.Q979Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.Q958Q|TET2_uc003hxi.1_Silent_p.Q958Q	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	958	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATCTCTTACAGAAGCAAGAAC	0.507000			Mis N|F		MDS								22	10					0	0	0.00188189	0	0
COL25A1	84570	broad.mit.edu	37	4	109971325	109971325	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:109971325C>T	uc003hze.1	-	4	909	c.378G>A	c.(376-378)GGG>GGA	p.G126G	COL25A1_uc003hzg.2_Silent_p.G126G|COL25A1_uc003hzh.1_Silent_p.G126G	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	126	Extracellular (Potential).|Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TACCTCGTTTCCCTGGAGGGC	0.383000													29	17					0	0	0.00127121	0	0
PITX2	5308	broad.mit.edu	37	4	111542432	111542432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:111542432G>A	uc003iad.2	-	4	860	c.278C>T	c.(277-279)ACC>ATC	p.T93I	PITX2_uc003iac.2_Missense_Mutation_p.T100I|PITX2_uc003iae.2_Missense_Mutation_p.T47I|PITX2_uc010iml.2_Intron|PITX2_uc003iaf.2_Missense_Mutation_p.T93I|PITX2_uc003iag.1_Missense_Mutation_p.T100I	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	93	Homeobox.				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTGCTGGCTGGTAAAGTGAGT	0.567000													27	8					0	0	0.000339439	0	0
ANK2	287	broad.mit.edu	37	4	114288885	114288885	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:114288885G>A	uc003ibe.3	+	42	11296	c.11196G>A	c.(11194-11196)GAG>GAA	p.E3732E	ANK2_uc003ibd.3_Silent_p.E1638E|ANK2_uc003ibf.3_Silent_p.E1647E|ANK2_uc011cgc.1_Silent_p.E823E|ANK2_uc003ibg.3_Silent_p.E631E|ANK2_uc003ibh.3_Silent_p.E321E|ANK2_uc011cgd.1_Silent_p.E1034E	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3699					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAAACTGAGGGGGACAGCT	0.478000													39	23					0	0	0.00148497	0	0
NDST4	64579	broad.mit.edu	37	4	115754787	115754787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:115754787G>A	uc003ibu.2	-	12	3050	c.2371C>T	c.(2371-2373)CGT>TGT	p.R791C	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	791	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAATTATAACGAGGTGTAACT	0.378000													14	11					0	0	0.000308642	0	0
NPY1R	4886	broad.mit.edu	37	4	164247100	164247100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:164247100G>A	uc003iqm.1	-	2	873	c.607C>T	c.(607-609)CCA>TCA	p.P203S	NPY1R_uc011cjj.1_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	203	Extracellular (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			lung(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAGTCCGATGGAAATTGATCA	0.383000													19	8					0	0	0.000958276	0	0
PALLD	23022	broad.mit.edu	37	4	169846138	169846138	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:169846138G>T	uc011cjx.1	+	20	3478	c.3267G>T	c.(3265-3267)CAG>CAT	p.Q1089H	CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Missense_Mutation_p.Q1072H|PALLD_uc003irv.2_Missense_Mutation_p.Q690H|PALLD_uc003irw.2_Missense_Mutation_p.Q574H|PALLD_uc003irx.2_Missense_Mutation_p.Q298H	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	1296	Ig-like C2-type 5.|Interaction with EZR.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGCTCATTCAGGGAGCCACAA	0.473000									Pancreatic_Cancer_Familial_Clustering_of				38	10					5.71845e-15	4.58709e-14	0.00111076	1	0
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr4:175598335G>A	uc003ity.1	-	7	1324	c.821C>T	c.(820-822)TCA>TTA	p.S274L	GLRA3_uc003itz.1_Missense_Mutation_p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	274	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478000													15	12					0	0	0.000566183	0	0
TERT	7015	broad.mit.edu	37	5	1272321	1272321	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:1272321C>T	uc003jcb.1	-	7	2419	c.2361G>A	c.(2359-2361)AGG>AGA	p.R787R	TERT_uc003jbz.1_Intron|TERT_uc003jca.1_Silent_p.R775R|TERT_uc003jcc.1_Silent_p.R787R|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	787	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGACGGCATCCCTCAGCGGGC	0.647000									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				3	4					0	0	6.4e-05	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182218	5182218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:5182218C>T	uc003jdl.2	+	4	701	c.563C>T	c.(562-564)TCA>TTA	p.S188L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S188L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.S188L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	188					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TCACACCTCTCATGGAAACTC	0.502000													20	19					0	0	0.00152264	0	0
DNAH5	1767	broad.mit.edu	37	5	13885252	13885252	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:13885252C>T	uc003jfd.2	-	19	2871	c.2829G>A	c.(2827-2829)AGG>AGA	p.R943R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	943	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)					CTTTCTTTTTCCTCGTGACTG	0.413000									Kartagener_syndrome				21	17					0	0	0.00047179	0	0
SPEF2	79925	broad.mit.edu	37	5	35792539	35792539	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:35792539C>T	uc003jjo.2	+	31	4656	c.4545C>T	c.(4543-4545)ACC>ACT	p.T1515T	SPEF2_uc003jjp.1_Silent_p.T1001T|SPEF2_uc003jjr.2_Silent_p.T570T	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1515					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCACCTTACCCAACCTGAAG	0.323000													26	19					0	0	0.000720815	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035825	36035825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:36035825C>T	uc003jjz.1	-	7	1640	c.1547G>A	c.(1546-1548)GGG>GAG	p.G516E	UGT3A2_uc011cos.1_Missense_Mutation_p.G482E|UGT3A2_uc011cot.1_Missense_Mutation_p.G214E	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	516	Cytoplasmic (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTTCTGGCCCCACGCAGCCA	0.577000													13	7					0	0	0.000308642	0	0
GPR98	84059	broad.mit.edu	37	5	89986685	89986685	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:89986685C>T	uc003kju.2	+	31	6874	c.6778C>T	c.(6778-6780)CGA>TGA	p.R2260*	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2260	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAATAATTCGAAATTCTGG	0.438000													8	15					0	0	0.000274275	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030868	94030868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:94030868C>T	uc003kkr.3	+	21	3108	c.3028C>T	c.(3028-3030)CTT>TTT	p.L1010F	ANKRD32_uc003kks.2_Missense_Mutation_p.L374F	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	1010										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GTTACTGGATCTTTATGCTGG	0.398000													30	46					0	0	0.000339439	0	0
MCTP1	79772	broad.mit.edu	37	5	94207063	94207063	+	Missense_Mutation	SNP	C	T	T	rs145448158		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:94207063C>T	uc003kkx.2	-	14	2096	c.2096G>A	c.(2095-2097)CGA>CAA	p.R699Q	MCTP1_uc003kkv.2_Missense_Mutation_p.R478Q|MCTP1_uc003kkw.2_Missense_Mutation_p.R432Q|MCTP1_uc003kkz.2_Missense_Mutation_p.R360Q|MCTP1_uc003kku.2_Missense_Mutation_p.R215Q	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	699	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTCAGCACTTCGATCCCGATC	0.353000													27	38					0	0	0.001512	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834325	101834325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:101834325G>A	uc003knn.2	-	1	396	c.224C>T	c.(223-225)TCC>TTC	p.S75F	SLCO6A1_uc003kno.2_Missense_Mutation_p.S75F|SLCO6A1_uc003knp.2_Missense_Mutation_p.S75F|SLCO6A1_uc003knq.2_Missense_Mutation_p.S75F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	75	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGGCTTCTTGGAAACTGAGGA	0.507000													56	66					0	0	0.000781405	0	0
APC	324	broad.mit.edu	37	5	112179639	112179639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:112179639C>T	uc010jby.2	+	16	8728	c.8348C>T	c.(8347-8349)CCT>CTT	p.P2783L	APC_uc011cvt.1_Missense_Mutation_p.P2765L|APC_uc003kpz.3_Missense_Mutation_p.P2783L|APC_uc003kpy.3_Missense_Mutation_p.P2783L|APC_uc010jbz.2_Missense_Mutation_p.P2500L|APC_uc010jca.2_Missense_Mutation_p.P2083L	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2783	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAGTGACTCCTTTTAATTAC	0.468000		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			28	49					0	0	0.000339439	0	0
TGFBI	7045	broad.mit.edu	37	5	135390415	135390415	+	Silent	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:135390415T>C	uc003lbf.3	+	10	1436	c.1275T>C	c.(1273-1275)CCT>CCC	p.P425P	TGFBI_uc003lbg.3_Silent_p.P158P|TGFBI_uc003lbh.3_Silent_p.P251P|TGFBI_uc011cyb.1_Silent_p.P251P|TGFBI_uc010jed.2_Silent_p.P158P	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	425	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGAACCCCTCCAATTGATG	0.458000													4	197					0	0	0.00024832	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237184	140237184	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:140237184C>G	uc003lhx.2	+	1	1551	c.1551C>G	c.(1549-1551)TAC>TAG	p.Y517*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Nonsense_Mutation_p.Y517*|PCDHA10_uc011dad.1_Nonsense_Mutation_p.Y517*	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	517	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTGTACGCGCTGCAGC	0.682000													34	37					0	0	0.000953801	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741694	140741694	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:140741694C>T	uc003ljs.1	+	1	1992	c.1992C>T	c.(1990-1992)TTC>TTT	p.F664F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.F664F|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	664	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCGGATAGCC	0.652000													19	6					0	0	0.000586117	0	0
GABRA6	2559	broad.mit.edu	37	5	161117247	161117247	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:161117247G>A	uc003lyu.2	+	7	1052	c.714G>A	c.(712-714)AGG>AGA	p.R238R	GABRA6_uc003lyv.2_Silent_p.R9R	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	238	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTTGCAAAGGAAGATGGGCT	0.398000										TCGA Ovarian(5;0.080)			31	18					0	0	0.00058488	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765926	171765926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:171765926G>A	uc003mbr.2	-	13	2354	c.2183C>T	c.(2182-2184)GCC>GTC	p.A728V		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	728					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTCGGAGGGGCTCTGCAGGA	0.632000													30	16					0	0	0.000491102	0	0
N4BP3	23138	broad.mit.edu	37	5	177548809	177548809	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr5:177548809A>G	uc003mik.1	+	5	1689	c.1442A>G	c.(1441-1443)GAG>GGG	p.E481G	N4BP3_uc003mil.1_Missense_Mutation_p.E150G	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	481	Potential.					cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGGCCAGGAGCAGGCGCTG	0.672000													7	3					0	0	8.12818e-05	0	0
SSR1	6745	broad.mit.edu	37	6	7301720	7301720	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:7301720G>A	uc003mxf.3	-	4	554	c.366C>T	c.(364-366)GCC>GCT	p.A122A	SSR1_uc003mxg.3_Intron|SSR1_uc010jny.2_Silent_p.A122A	NM_003144	NP_003135	P43307	SSRA_HUMAN	signal sequence receptor, alpha precursor	122	Lumenal (Potential).				cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Ovarian(93;0.0398)					AACGGAATGAGGCATCTAAGG	0.403000													36	86					0	0	0.000953801	0	0
CAGE1	285782	broad.mit.edu	37	6	7365730	7365730	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:7365730G>C	uc003mxi.2	-	7	2396	c.1675C>G	c.(1675-1677)CAC>GAC	p.H559D	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.H477D|CAGE1_uc003mxk.1_Missense_Mutation_p.H477D	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	695											0	Ovarian(93;0.0418)					TTTAGACTGTGGTACTTATCC	0.348000													3	43					0	0	6.4e-05	0	0
DSP	1832	broad.mit.edu	37	6	7569492	7569493	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:7569492_7569493CG>AT	uc003mxp.1	+	12	1772_1773	c.1493_1494CG>AT	c.(1492-1494)CCG>CAT	p.P498H	DSP_uc003mxq.1_Missense_Mutation_p.P498H	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	498	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGACGGGCCCGGGAGGCGTTG	0.559000													7	142					0	0	6.4e-05	0	0
PSORS1C2	170680	broad.mit.edu	37	6	31105933	31105933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:31105933G>A	uc003nso.3	-	2	530	c.206C>T	c.(205-207)CCC>CTC	p.P69L	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Intron	NM_014069	NP_054788	Q9UIG4	PS1C2_HUMAN	SPR1 protein precursor	69						extracellular region					0						GGGACGACTGGGGCGGGTAGG	0.667000													14	52					0	0	0.000308642	0	0
C6orf27	80737	broad.mit.edu	37	6	31741162	31741163	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:31741162_31741163CC>AA	uc011dog.1	-	6	1011_1012	c.773_774GG>TT	c.(772-774)AGG>ATT	p.R258I	C6orf27_uc003nxd.2_Intron|C6orf27_uc011doh.1_Intron	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	258						extracellular region				ovary(3)	3						TGATGCCTCCCCTCGGTGGCTG	0.604000													12	472					0	0	6.4e-05	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169319	33169319	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:33169319G>A	uc003odf.2	+	2	414	c.297G>A	c.(295-297)GAG>GAA	p.E99E	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Silent_p.E99E|SLC39A7_uc011dqv.1_Intron|SLC39A7_uc003odh.2_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	99	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1						ACTCCCATGAGAGCCTCTACC	0.542000													66	37					0	0	0.000781405	0	0
MEP1A	4224	broad.mit.edu	37	6	46800954	46800954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:46800954C>T	uc010jzh.1	+	11	1330	c.1288C>T	c.(1288-1290)CCC>TCC	p.P430S	MEP1A_uc011dwg.1_Missense_Mutation_p.P152S|MEP1A_uc011dwh.1_Missense_Mutation_p.P458S|MEP1A_uc011dwi.1_Missense_Mutation_p.P330S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	430	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			GACAGAAACCCCCTGCCCCAC	0.517000													43	45					0	0	0.000781405	0	0
GPR116	221395	broad.mit.edu	37	6	46828604	46828604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:46828604C>T	uc003oyo.3	-	16	2516	c.2227G>A	c.(2227-2229)GAG>AAG	p.E743K	GPR116_uc011dwj.1_Missense_Mutation_p.E298K|GPR116_uc011dwk.1_Missense_Mutation_p.E172K|GPR116_uc003oyp.3_Missense_Mutation_p.E601K|GPR116_uc003oyq.3_Missense_Mutation_p.E743K|GPR116_uc010jzi.1_Missense_Mutation_p.E415K	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	743	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			GGGAGCATCTCATCCTGAGAG	0.413000													18	53					0	0	0.00188189	0	0
MUT	4594	broad.mit.edu	37	6	49416546	49416546	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:49416546T>G	uc003ozg.3	-	7	1682	c.1427A>C	c.(1426-1428)CAA>CCA	p.Q476P		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	476					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTCTAGCTTGTCTTCGGGC	0.338000													71	77					0	0	0.000781405	0	0
ICK	22858	broad.mit.edu	37	6	52876951	52876951	+	Silent	SNP	G	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:52876951G>T	uc003pbh.2	-	11	1717	c.1227C>A	c.(1225-1227)TCC>TCA	p.S409S	ICK_uc003pbi.2_Silent_p.S409S	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	409					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					TTGTTGACCTGGAAATAAGAC	0.458000													27	45					1.16021e-09	9.25678e-09	0.00127121	1	0
PHF3	23469	broad.mit.edu	37	6	64421505	64421505	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:64421505C>T	uc003pep.1	+	15	4047	c.4021C>T	c.(4021-4023)CTA>TTA	p.L1341L	PHF3_uc003pen.2_Silent_p.L1253L|PHF3_uc011dxs.1_Silent_p.L610L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1341					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAGACCTAATCTATTGTTGGG	0.373000													43	71					0	0	0.000680045	0	0
COL9A1	1297	broad.mit.edu	37	6	70944568	70944568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:70944568C>T	uc003pfg.3	-	34	2347	c.2188G>A	c.(2188-2190)GGA>AGA	p.G730R	COL9A1_uc003pfe.3_Missense_Mutation_p.G279R|COL9A1_uc003pff.3_Missense_Mutation_p.G487R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	730	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CCAGGTGGTCCTCTTGGTCCT	0.627000													11	16					0	0	0.00136819	0	0
ME1	4199	broad.mit.edu	37	6	84056034	84056034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:84056034C>T	uc003pjy.2	-	5	564	c.458G>A	c.(457-459)GGA>GAA	p.G153E	ME1_uc011dzb.1_Missense_Mutation_p.G78E|ME1_uc011dzc.1_5'UTR	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	153					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AATACGCTCTCCATCAGTCAC	0.423000													8	22					0	0	0.000274275	0	0
ZNF292	23036	broad.mit.edu	37	6	87970646	87970646	+	Silent	SNP	A	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:87970646A>T	uc003plm.3	+	8	7340	c.7299A>T	c.(7297-7299)TCA>TCT	p.S2433S		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTTGCAACTCACAAGTAAAGG	0.348000													9	13					0	0	0.000442599	0	0
ECT2L	345930	broad.mit.edu	37	6	139159581	139159581	+	Missense_Mutation	SNP	C	T	T	rs116211453	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:139159581C>T	uc003qif.1	+	3	375	c.272C>T	c.(271-273)TCC>TTC	p.S91F	ECT2L_uc011edq.1_Missense_Mutation_p.S22F	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	91	F-box.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						TATATCTTTTCCTTTTTGAGT	0.423000													16	35					0	0	0.000566183	0	0
SHPRH	257218	broad.mit.edu	37	6	146276122	146276122	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:146276122T>C	uc003qlf.2	-	2	736	c.337A>G	c.(337-339)AAA>GAA	p.K113E	SHPRH_uc003qld.2_Missense_Mutation_p.K113E|SHPRH_uc003qle.2_Missense_Mutation_p.K113E|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Intron|SHPRH_uc003qlk.1_Missense_Mutation_p.K113E	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	113					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGAAATGCTTTCCAGGAATTA	0.333000													32	59					0	0	0.00178596	0	0
SYNE1	23345	broad.mit.edu	37	6	152847225	152847225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:152847225C>T	uc010kiw.2	-	5	817	c.215G>A	c.(214-216)GGG>GAG	p.G72E	SYNE1_uc003qot.3_Missense_Mutation_p.G72E|SYNE1_uc003qou.3_Missense_Mutation_p.G72E|SYNE1_uc010kjb.1_Missense_Mutation_p.G72E|SYNE1_uc003qpa.1_Missense_Mutation_p.G72E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	72	Actin-binding.|Cytoplasmic (Potential).|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGTTTCTGCCCAGACAGGAC	0.428000										HNSCC(10;0.0054)			25	38					0	0	0.000878237	0	0
LPA	4018	broad.mit.edu	37	6	161016452	161016452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr6:161016452C>T	uc003qtl.2	-	22	3523	c.3403G>A	c.(3403-3405)GAA>AAA	p.E1135K		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3643	Kringle 32.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACACTTGATTCTGTCACCAGG	0.522000													63	83					0	0	0.000781405	0	0
CCDC129	223075	broad.mit.edu	37	7	31617863	31617863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:31617863C>T	uc003tcj.1	+	8	1978	c.985C>T	c.(985-987)CCT>TCT	p.P329S	CCDC129_uc011kad.1_Missense_Mutation_p.P339S|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.P355S|CCDC129_uc003tck.1_Missense_Mutation_p.P237S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	329											0						ACCTTATCCTCCTCATGGTCT	0.502000													17	54					0	0	0.00074312	0	0
BMPER	168667	broad.mit.edu	37	7	34125516	34125516	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:34125516G>A	uc011kap.1	+	13	1671	c.1557G>A	c.(1555-1557)GTG>GTA	p.V519V		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	519	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						AGTTTGATGTGGATGACTTTG	0.473000													60	47					0	0	0.000781405	0	0
EEPD1	80820	broad.mit.edu	37	7	36320782	36320782	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:36320782G>C	uc003tfa.2	+	4	1629	c.989G>C	c.(988-990)CGG>CCG	p.R330P		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	330					DNA repair		DNA binding				0						AAGGGGCCCCGGGGATGCTGG	0.567000													31	35					0	0	0.000814825	0	0
TXNDC3	51314	broad.mit.edu	37	7	37936528	37936528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:37936528G>A	uc003tfn.2	+	17	1973	c.1601G>A	c.(1600-1602)CGA>CAA	p.R534Q		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	534	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GAATGGAGACGATTGATGGGC	0.458000									Kartagener_syndrome				73	56					0	0	0.000781405	0	0
POM121L12	285877	broad.mit.edu	37	7	53104047	53104047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:53104047C>T	uc003tpz.2	+	1	699	c.683C>T	c.(682-684)TCC>TTC	p.S228F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	228											0						GCGGTTGCTTCCTTCGTGCCC	0.642000													19	42					0	0	0.000958276	0	0
SEMA3A	10371	broad.mit.edu	37	7	83689827	83689827	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:83689827C>T	uc003uhz.2	-	5	816	c.501G>A	c.(499-501)GGG>GGA	p.G167G		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	167	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						ATGGACTCTTCCCACGGCCGT	0.348000													127	94					0	0	0.000781405	0	0
TRRAP	8295	broad.mit.edu	37	7	98559085	98559085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:98559085C>T	uc003upp.2	+	45	6879	c.6670C>T	c.(6670-6672)CCA>TCA	p.P2224S	TRRAP_uc011kis.1_Missense_Mutation_p.P2206S|TRRAP_uc003upr.2_Missense_Mutation_p.P1923S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2224	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCATTTTCCCAACAGAGCC	0.552000													46	50					0	0	0.000781405	0	0
TRRAP	8295	broad.mit.edu	37	7	98588089	98588089	+	Silent	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:98588089T>C	uc003upp.2	+	63	9824	c.9615T>C	c.(9613-9615)CTT>CTC	p.L3205L	TRRAP_uc011kis.1_Silent_p.L3176L|TRRAP_uc003upr.2_Silent_p.L2893L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3205	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTGTGGCTTTTGAGTTTTG	0.468000													41	94					0	0	0.000680045	0	0
FBXL13	222235	broad.mit.edu	37	7	102669176	102669176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:102669176G>A	uc003vaq.2	-	4	515	c.88C>T	c.(88-90)CGT>TGT	p.R30C	FBXL13_uc010lir.1_Missense_Mutation_p.R30C|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.R30C|FBXL13_uc003vav.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	30											0						TCATTTGTACGAGCTATGTCT	0.333000													19	47					0	0	0.00074312	0	0
CFTR	1080	broad.mit.edu	37	7	117188775	117188775	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:117188775C>T	uc003vjd.2	+	10	1422	c.1290C>T	c.(1288-1290)TTC>TTT	p.F430F	CFTR_uc011knq.1_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	430	Cytoplasmic (Potential).|ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCCTCTTCTTCAGTAATTTCT	0.358000									Cystic_Fibrosis				17	6					0	0	0.000566183	0	0
SPAM1	6677	broad.mit.edu	37	7	123594216	123594216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:123594216G>A	uc003vld.2	+	4	994	c.592G>A	c.(592-594)GAT>AAT	p.D198N	SPAM1_uc003vle.2_Missense_Mutation_p.D198N|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.D198N|SPAM1_uc010lku.2_Missense_Mutation_p.D198N	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	198					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	GGCAGGGAAGGATTTCCTGGT	0.373000													18	58					0	0	0.00121646	0	0
FAM71F1	84691	broad.mit.edu	37	7	128370028	128370028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:128370028G>A	uc003vno.1	+	6	979	c.926G>A	c.(925-927)GGA>GAA	p.G309E	FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.G208E|FAM71F1_uc003vnp.1_Missense_Mutation_p.G307E	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	309										skin(1)	1						TTCACGTACGGAGAGTGGGAA	0.557000													30	97					0	0	0.00106085	0	0
BRAF	673	broad.mit.edu	37	7	140434507	140434507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:140434507G>A	uc003vwc.3	-	18	2252	c.2191C>T	c.(2191-2193)CCC>TCC	p.P731S		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	731					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TTCAAGGAGGGTTCTGATGCA	0.418000		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				139	83					0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453134	140453134	+	Missense_Mutation	SNP	T	C	C	rs121913377		TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:140453134T>C	uc003vwc.3	-	15	1862	c.1801A>G	c.(1801-1803)AAA>GAA	p.K601E		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	601	Protein kinase.		K -> Q (in CFC syndrome).|K -> E (in colorectal cancer).		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.K601E(47)|p.V600_K601>E(8)|p.K601N(7)|p.K601del(4)|p.K601Q(3)|p.T599_R603>I(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.K601I(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)	CATCGAGATTTCACTGTAGCT	0.368000		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				56	46					0	0	0.000781405	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672661	141672661	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:141672661T>G	uc003vwx.1	-	1	913	c.829A>C	c.(829-831)ATA>CTA	p.I277L		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	277	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					ATCACCCCTATTTTGTCGCGC	0.498000													41	34					0	0	0.000589545	0	0
OR6V1	346517	broad.mit.edu	37	7	142749795	142749795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:142749795C>T	uc011ksv.1	+	1	358	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)					GGCCCTTGATCGCTTTGTGGC	0.577000													31	82					0	0	0.00178596	0	0
OR2A5	393046	broad.mit.edu	37	7	143748423	143748423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:143748423C>T	uc011ktw.1	+	1	929	c.929C>T	c.(928-930)TCA>TTA	p.S310L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					AAACAGAGATCAAAGTGAGGG	0.463000													28	28					0	0	0.00178596	0	0
SMARCD3	6604	broad.mit.edu	37	7	150945580	150945580	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:150945580G>A	uc003wjs.2	-	1	170	c.69C>T	c.(67-69)GTC>GTT	p.V23V	SMARCD3_uc003wjt.2_Intron|SMARCD3_uc003wju.2_Intron|SMARCD3_uc011kvh.1_Silent_p.V23V|SMARCD3_uc010lqa.1_Silent_p.V23V	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	23					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACCCCATGGACCAGAAACT	0.627000													56	53					0	0	0.000781405	0	0
SGK223	157285	broad.mit.edu	37	8	8235486	8235486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:8235486G>A	uc003wsh.3	-	2	433	c.433C>T	c.(433-435)CCC>TCC	p.P145S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	145							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GAGGTAGAGGGACCAGCAGGC	0.632000													41	51					0	0	0.00170553	0	0
ANK1	286	broad.mit.edu	37	8	41550168	41550168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:41550168C>T	uc003xok.2	-	31	3940	c.3856G>A	c.(3856-3858)GAG>AAG	p.E1286K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.E602K|ANK1_uc003xoi.2_Missense_Mutation_p.E1286K|ANK1_uc003xoj.2_Missense_Mutation_p.E1286K|ANK1_uc003xol.2_Missense_Mutation_p.E1286K|ANK1_uc003xom.2_Missense_Mutation_p.E1327K	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1286			E -> D.		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGTTACCTCTATGTCCCTG	0.597000													88	163					0	0	0.000781405	0	0
ESRP1	54845	broad.mit.edu	37	8	95683873	95683873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:95683873G>A	uc003ygq.3	+	11	1609	c.1426G>A	c.(1426-1428)GGG>AGG	p.G476R	ESRP1_uc003ygr.3_Missense_Mutation_p.G476R|ESRP1_uc003ygs.3_Missense_Mutation_p.G476R|ESRP1_uc003ygt.3_Missense_Mutation_p.G476R|ESRP1_uc003ygu.3_Missense_Mutation_p.G476R|ESRP1_uc003ygv.2_Missense_Mutation_p.G316R|ESRP1_uc003ygw.2_Missense_Mutation_p.G316R	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	476	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						TCGTACTCATGGGGTTCACAT	0.398000													152	223					0	0	0.000781405	0	0
GRHL2	79977	broad.mit.edu	37	8	102611373	102611373	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:102611373G>A	uc010mbu.2	+	8	1422	c.1092G>A	c.(1090-1092)GAG>GAA	p.E364E		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	364						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGAATGAAGAGGCGAAGGTGA	0.378000													12	24					0	0	0.00185496	0	0
DCAF13	25879	broad.mit.edu	37	8	104427664	104427664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:104427664G>A	uc003yln.2	+	1	723	c.446G>A	c.(445-447)AGA>AAA	p.R149K	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CCGGCCGGAAGAGCAACCGAG	0.562000													24	23					0	0	0.000586117	0	0
CSMD3	114788	broad.mit.edu	37	8	113966914	113966914	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:113966914G>A	uc003ynu.2	-	8	1578	c.1419C>T	c.(1417-1419)ATC>ATT	p.I473I	CSMD3_uc003ynt.2_Silent_p.I433I|CSMD3_uc011lhx.1_Silent_p.I369I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	473	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TACACTCACAGATAGAAAACT	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	13					0	0	0.00116845	0	0
COL14A1	7373	broad.mit.edu	37	8	121301973	121301973	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:121301973C>T	uc003yox.2	+	34	4469	c.4204C>T	c.(4204-4206)CGA>TGA	p.R1402*	COL14A1_uc003yoz.2_Nonsense_Mutation_p.R367*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1402	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAAAATGGTTCGATCAAGAGG	0.428000													22	42					0	0	0.000375601	0	0
KLHL38	340359	broad.mit.edu	37	8	124663820	124663820	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:124663820G>A	uc003yqs.1	-	1	1371	c.1347C>T	c.(1345-1347)ATC>ATT	p.I449I		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	449	Kelch 4.										0						CATTTACCTGGATAAGGCGCA	0.507000													36	71					0	0	0.000509022	0	0
KLHL38	340359	broad.mit.edu	37	8	124664570	124664570	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:124664570G>A	uc003yqs.1	-	1	621	c.597C>T	c.(595-597)GCC>GCT	p.A199A		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	199	BACK.										0						AAACCATGAGGGCCTCAAACA	0.567000													24	40					0	0	0.000878237	0	0
COL22A1	169044	broad.mit.edu	37	8	139838922	139838922	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:139838922G>A	uc003yvd.2	-	6	1395	c.948C>T	c.(946-948)ATC>ATT	p.I316I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	316	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTACTGGTCGATGACCTGCC	0.527000										HNSCC(7;0.00092)			32	49					0	0	0.000814825	0	0
ZNF7	7553	broad.mit.edu	37	8	146068380	146068380	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:146068380A>G	uc003zeg.3	+	5	2025	c.1888A>G	c.(1888-1890)ATA>GTA	p.I630V	ZNF7_uc010mge.2_Missense_Mutation_p.I641V|ZNF7_uc011lln.1_Missense_Mutation_p.I534V|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.I534V|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	630					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GGTTAATACTATAAAGAAACT	0.428000													24	52					0	0	0.00047179	0	0
IL33	90865	broad.mit.edu	37	9	6254462	6254462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:6254462G>A	uc003zjt.2	+	7	578	c.521G>A	c.(520-522)GGT>GAT	p.G174D	IL33_uc011lmg.1_Missense_Mutation_p.G132D|IL33_uc011lmh.1_Missense_Mutation_p.G48D|IL33_uc003zju.1_Missense_Mutation_p.G174D	NM_033439	NP_254274	O95760	IL33_HUMAN	interleukin 33 precursor	174					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity				0		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TAATTGTAAGGTGACGGTGTT	0.338000													11	25					0	0	0.000978159	0	0
TYRP1	7306	broad.mit.edu	37	9	12695549	12695549	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:12695549A>C	uc003zkv.3	+	3	598	c.420A>C	c.(418-420)GAA>GAC	p.E140D		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	140	Lumenal, melanosome (Potential).				melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTAAAGAAGAAAAGAACCACT	0.448000									Oculocutaneous_Albinism				25	34					0	0	0.000878237	0	0
ZDHHC21	340481	broad.mit.edu	37	9	14639981	14639981	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:14639981G>A	uc003zli.2	-	8	1004	c.534C>T	c.(532-534)GCC>GCT	p.A178A	ZDHHC21_uc003zlg.1_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	178					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(50;4.31e-06)		GTCTCATTATGGCCAATTCAT	0.333000													36	79					0	0	0.00111076	0	0
C9orf24	84688	broad.mit.edu	37	9	34379725	34379725	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:34379725A>T	uc003zuh.1	-	6	926	c.708T>A	c.(706-708)TGT>TGA	p.C236*	KIAA1161_uc003zue.3_5'Flank|C9orf24_uc003zug.1_Nonsense_Mutation_p.C101*|C9orf24_uc003zuf.1_Missense_Mutation_p.V50E|C9orf24_uc003zui.1_3'UTR	NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	testes development-related NYD-SP22 isoform 1	236										ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GTAGGGAGGTACACATCTGGA	0.587000											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	39					0	0	0.00047179	0	0
COL15A1	1306	broad.mit.edu	37	9	101767302	101767302	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:101767302C>T	uc004azb.1	+	9	1529	c.1323C>T	c.(1321-1323)TCC>TCT	p.S441S		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	441	Nonhelical region 1 (NC1).|4 X tandem repeats.|2.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				TCTCCATGTCCGCCCAGAGCC	0.642000													18	8					0	0	0.00121646	0	0
CYLC2	1539	broad.mit.edu	37	9	105767302	105767302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:105767302C>T	uc004bbs.2	+	5	459	c.389C>T	c.(388-390)TCG>TTG	p.S130L		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	130	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				ACAACAGATTCGGAATCAGAA	0.189000													13	6					0	0	0.00136819	0	0
CEL	1056	broad.mit.edu	37	9	135940600	135940600	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:135940600A>G	uc010naa.1	+	4	539	c.523A>G	c.(523-525)AGC>GGC	p.S175G		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	172					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGGTTCCTCAGCACTGGGGA	0.622000													74	51					0	0	0.000781405	0	0
TMEM8C	389827	broad.mit.edu	37	9	136384008	136384008	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:136384008G>A	uc011mdk.1	-	3	387	c.387C>T	c.(385-387)ATC>ATT	p.I129I		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	129	Helical; (Potential).					integral to membrane					0						ACTTTGCCGCGATGATGAGGA	0.617000													19	7					0	0	0.00121646	0	0
NDOR1	27158	broad.mit.edu	37	9	140110212	140110213	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr9:140110212_140110213CC>TT	uc004clw.2	+	11	1501_1502	c.1390_1391CC>TT	c.(1390-1392)CCC>TTC	p.P464F	NDOR1_uc004clx.2_Missense_Mutation_p.P464F|NDOR1_uc011mes.1_Missense_Mutation_p.P457F|NDOR1_uc004cly.2_Missense_Mutation_p.P430F	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	464	NADP (By similarity).				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGGGTAGCCCCCTTCCGAGCA	0.678000													18	8					0	0	6.4e-05	0	0
IL3RA	3563	broad.mit.edu	37	X	1460723	1460723	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:1460723G>A	uc004cps.2	+	2	413	c.64_splice	c.e2+1	p.D22_splice	IL3RA_uc011mhd.1_Splice_Site_p.G22_splice	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor							integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGAAGGAAGGTAAGAACTGG	0.557000													44	84					0	0	0.000781405	0	0
MXRA5	25878	broad.mit.edu	37	X	3240932	3240932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:3240932C>T	uc004crg.3	-	5	2951	c.2794G>A	c.(2794-2796)GAA>AAA	p.E932K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	932						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGGCTTTTCATAGACTGTG	0.507000													24	52					0	0	0.000720815	0	0
MXRA5	25878	broad.mit.edu	37	X	3241563	3241563	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:3241563C>T	uc004crg.3	-	5	2320	c.2163G>A	c.(2161-2163)GAG>GAA	p.E721E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	721						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGGAACACCTCTTGGTCCT	0.473000													28	35					0	0	0.00106085	0	0
BEND2	139105	broad.mit.edu	37	X	18189144	18189144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:18189144G>A	uc004cyj.3	-	13	2316	c.2162C>T	c.(2161-2163)CCC>CTC	p.P721L	BEND2_uc010nfb.2_Missense_Mutation_p.P630L	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	721	BEN 2.									ovary(3)|kidney(1)|central_nervous_system(1)	5						AATCTTATTGGGGTCAAGGGC	0.408000													97	178					0	0	0.000781405	0	0
CXorf38	159013	broad.mit.edu	37	X	40496279	40496279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:40496279C>T	uc004dew.2	-	4	606	c.601G>A	c.(601-603)GTA>ATA	p.V201I	CXorf38_uc011mko.1_Missense_Mutation_p.V116I|CXorf38_uc004dev.1_Missense_Mutation_p.V82I|CXorf38_uc010nhd.2_RNA	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013	201										ovary(1)	1						CTGGAGTATACTGCCACAATC	0.358000													21	70					0	0	0.000295444	0	0
RBM10	8241	broad.mit.edu	37	X	47041239	47041239	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:47041239C>G	uc004dhf.2	+	15	2046	c.1667C>G	c.(1666-1668)ACT>AGT	p.T556S	RBM10_uc004dhg.2_Missense_Mutation_p.T478S|RBM10_uc004dhh.2_Missense_Mutation_p.T555S|RBM10_uc010nhq.2_Missense_Mutation_p.T479S|RBM10_uc004dhi.2_Missense_Mutation_p.T621S	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	556					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						ACCAGCCCCACTGCCCAGGAA	0.567000													3	33					0	0	6.4e-05	0	0
CCNB3	85417	broad.mit.edu	37	X	50054483	50054483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:50054483G>A	uc004dox.3	+	6	3612	c.3314G>A	c.(3313-3315)GGA>GAA	p.G1105E	CCNB3_uc004doy.2_Missense_Mutation_p.G1105E|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1105					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					CAGGCCAAGGGAACACCAAAG	0.443000													7	7					0	0	0.000157383	0	0
BMP15	9210	broad.mit.edu	37	X	50659504	50659504	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:50659504C>A	uc011mnw.1	+	2	1076	c.1076C>A	c.(1075-1077)CCG>CAG	p.P359Q		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	359					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)					TCCTGTGTCCCGTATAAGTAT	0.463000													37	38					2.09667e-21	1.70018e-20	0.000692331	1	0
FAM123B	139285	broad.mit.edu	37	X	63411267	63411267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:63411267G>A	uc004dvo.2	-	2	2173	c.1900C>T	c.(1900-1902)CGT>TGT	p.R634C		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	634					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						TCTCTACAACGAACCTCTCGG	0.612000													16	23					0	0	0.000958276	0	0
ATP7A	538	broad.mit.edu	37	X	77245141	77245141	+	Silent	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:77245141G>A	uc004ecx.3	+	4	1183	c.1023G>A	c.(1021-1023)GGG>GGA	p.G341G	ATP7A_uc004ecw.2_Silent_p.G341G	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	341	HMA 3.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						TATCACCGGGGCTATATAGAG	0.428000													92	137					0	0	0.000781405	0	0
SATL1	340562	broad.mit.edu	37	X	84347460	84347460	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:84347460C>T	uc011mqx.1	-	6	2025	c.2025G>A	c.(2023-2025)GAG>GAA	p.E675E	SATL1_uc004een.2_3'UTR	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	488	N-acetyltransferase.						N-acetyltransferase activity			breast(2)	2						GCCAGCCCTCCTCAGAGGAAA	0.463000													7	6					0	0	8.12818e-05	0	0
NXF3	56000	broad.mit.edu	37	X	102339344	102339344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:102339344C>T	uc004eju.2	-	3	348	c.277G>A	c.(277-279)GAG>AAG	p.E93K	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.E93K|NXF3_uc011mrx.1_Missense_Mutation_p.E4K	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	93						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						GGTTTTTGCTCTCTCTCCATG	0.473000													43	71					0	0	0.000589545	0	0
NRK	203447	broad.mit.edu	37	X	105132293	105132293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:105132293G>A	uc004emd.2	+	5	562	c.259G>A	c.(259-261)GAA>AAA	p.E87K	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	87	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						ATAGGATGAGGAAGAGGATCT	0.408000										HNSCC(51;0.14)			4	8					0	0	0.00024832	0	0
MORC4	79710	broad.mit.edu	37	X	106243183	106243183	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:106243183C>A	uc004emu.3	-	1	260	c.17G>T	c.(16-18)GGG>GTG	p.G6V	MORC4_uc004emv.3_Missense_Mutation_p.G6V|MORC4_uc004emw.3_5'UTR	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	6							ATP binding|zinc ion binding			ovary(1)	1						ggcgggggccccTCGGTACAG	0.438000													15	25					1.37285e-15	1.10721e-14	0.000422831	1	0
CAPN6	827	broad.mit.edu	37	X	110496372	110496372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:110496372G>A	uc004epc.1	-	4	538	c.370C>T	c.(370-372)CGT>TGT	p.R124C	CAPN6_uc011msu.1_5'UTR	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	124	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						TGCCAGAAACGAAAGTGAAAT	0.403000													34	48					0	0	0.000953801	0	0
THOC2	57187	broad.mit.edu	37	X	122754786	122754786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:122754786G>A	uc004etu.2	-	32	4279	c.4247C>T	c.(4246-4248)CCT>CTT	p.P1416L	THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.P237L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1416	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						TGATGGAGAAGGGTGAGTATC	0.398000													102	176					0	0	0.000781405	0	0
DDX26B	203522	broad.mit.edu	37	X	134690140	134690140	+	Silent	SNP	T	C	C			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:134690140T>C	uc004eyw.3	+	9	1470	c.1107T>C	c.(1105-1107)TTT>TTC	p.F369F		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	369											0	Acute lymphoblastic leukemia(192;6.56e-05)					GATATCCATTTGGTTATTTAA	0.333000													52	71					0	0	0.000781405	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993562	140993562	+	Silent	SNP	C	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:140993562C>T	uc004fbt.2	+	4	658	c.372C>T	c.(370-372)GTC>GTT	p.V124V	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	124							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGGATGTCCAGTCTCCTC	0.502000										HNSCC(15;0.026)			31	63					0	0	0.001512	0	0
MTM1	4534	broad.mit.edu	37	X	149814235	149814235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:149814235G>A	uc004fef.3	+	9	834	c.758G>A	c.(757-759)CGA>CAA	p.R253Q	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.R216Q|MTM1_uc011mxz.1_Missense_Mutation_p.R138Q|MTM1_uc010nte.2_Missense_Mutation_p.R121Q	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	253	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGGAAACGAAATAAAGAT	0.398000													33	71					0	0	0.000491102	0	0
ATP2B3	492	broad.mit.edu	37	X	152815551	152815551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:152815551G>A	uc004fht.1	+	10	1756	c.1630G>A	c.(1630-1632)GAG>AAG	p.E544K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E544K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	544	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAATAAGACGGAGTGCGCCCT	0.612000													12	20					0	0	0.000978159	0	0
ATP2B3	492	broad.mit.edu	37	X	152845528	152845529	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:152845528_152845529CG>AT	uc004fht.1	+	20	3561_3562	c.3435_3436CG>AT	c.(3433-3438)CCCGAG>CCATAG	p.E1146*	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Nonsense_Mutation_p.E283*|ATP2B3_uc004fhu.1_Nonsense_Mutation_p.E98*	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1146	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCACGCCCGAGTTTCTGAT	0.599000													7	187					0	0	6.4e-05	0	0
PDZD4	57595	broad.mit.edu	37	X	153070562	153070563	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chrX:153070562_153070563GG>AA	uc004fiz.1	-	7	1001_1002	c.751_752CC>TT	c.(751-753)CCT>TTT	p.P251F	PDZD4_uc004fiy.1_Missense_Mutation_p.P176F|PDZD4_uc004fix.2_Missense_Mutation_p.P155F|PDZD4_uc004fja.1_Missense_Mutation_p.P257F|PDZD4_uc011mze.1_Missense_Mutation_p.P142F	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	251						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTGGGCAGGGGGTGATTTC	0.604000													41	36					0	0	6.4e-05	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	AGCT	AGCT	rs141324796	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	3	478_479	c.364_365insAGCT	c.(364-366)TGGfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs	NR_026567				RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein;												0						CAGCAGCAGCCAGCTGAGCACC	0.663													5	5	---	---	---	---					
TMEM200B	399474	broad.mit.edu	37	1	29448162	29448162	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:29448162delG	uc001brn.1	-	2	239	c.179delC	c.(178-180)GCGfs	p.A60fs		NM_001003682	NP_001003682	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	60	Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TACCACGAGCGCCCCCAGCGC	0.647													2	4	---	---	---	---					
CLCC1	23155	broad.mit.edu	37	1	109477407	109477407	+	Frame_Shift_Del	DEL	T	-	-	rs150759040	by1000genomes	TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:109477407delT	uc001dwe.1	-	11	1633	c.1541delA	c.(1540-1542)AAGfs	p.K514fs	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Frame_Shift_Del_p.K514fs|CLCC1_uc001dwg.1_Frame_Shift_Del_p.K464fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.K393fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.K329fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	514						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597													7	753	---	---	---	---					
CTSE	1510	broad.mit.edu	37	1	206325342	206325342	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr1:206325342delC	uc001hdu.2	+	5	685	c.567delC	c.(565-567)TACfs	p.Y189fs	CTSE_uc001hdv.2_Frame_Shift_Del_p.Y189fs|CTSE_uc010prs.1_Frame_Shift_Del_p.Y114fs	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	194					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCCTGGGATACCCCTCCTTGG	0.517													50	45	---	---	---	---					
BBS10	79738	broad.mit.edu	37	12	76740943	76740944	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr12:76740943_76740944delCT	uc001syd.1	-	2	905_906	c.821_822delAG	c.(820-822)GAGfs	p.E274fs		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	274					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						TTAGAATAAACTCTGATCCAGA	0.361									Bardet-Biedl_syndrome				10	32	---	---	---	---					
PAFAH1B3	5050	broad.mit.edu	37	19	42801471	42801473	+	In_Frame_Del	DEL	TTC	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr19:42801471_42801473delTTC	uc002otg.2	-	5	788_790	c.453_455delGAA	c.(451-456)AAGAAC>AAC	p.K151del	PAFAH1B3_uc010xwi.1_In_Frame_Del_p.K151del|PAFAH1B3_uc010xwj.1_In_Frame_Del_p.K151del	NM_002573	NP_002564	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase,	151					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding				0		Prostate(69;0.0704)				CACCTGTCGGTTCTTCTCCCGAA	0.586													46	59	---	---	---	---					
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:6621848_6621849insT	uc003sqi.2	+	6	694_695	c.336_337insT	c.(334-339)CTGTTTfs	p.L112fs	ZDHHC4_uc003sqg.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sql.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqk.2_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqm.2_Frame_Shift_Ins_p.L112fs	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	112_113	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.450													8	350	---	---	---	---					
GNB2	2783	broad.mit.edu	37	7	100274423	100274424	+	Splice_Site	DEL	GT	-	-			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr7:100274423_100274424delGT	uc003uwb.2	+	4	476	c.203_splice	c.e4+1	p.R68_splice	GNB2_uc003uwc.2_Splice_Site_p.R24_splice|GNB2_uc010lhd.2_Splice_Site_p.R24_splice|GNB2_uc010lhe.2_Splice_Site_p.R24_splice|GNB2_uc003uwd.2_Intron|GNB2_uc010lhf.2_Intron|GNB2_uc003uwe.2_Splice_Site_p.R68_splice|GNB2_uc003uwf.2_5'Flank	NM_005273	NP_005264	P62879	GBB2_HUMAN	guanine nucleotide-binding protein, beta-2						cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			ovary(2)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGACTCAAGGTGTGTGTGTGT	0.634													2	4	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	GGC	GGC			TCGA-EE-A2MQ-06A-11D-A197-08	TCGA-EE-A2MQ-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	0853f3bd-b4a0-4c59-8370-60a5bd58ba85	860a8640-e651-4e9d-b4f0-d1dd589628ce	g.chr8:65493617_65493618insGGC	uc003xvi.2	+	1	804_805	c.270_271insGGC	c.(268-273)insGGC	p.97_98insG	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	97_98	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						gcgcgggaagtggcggcggcgg	0.584													2	4	---	---	---	---					
