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 isArtifactMode oxoGCut CLSTN1 22883 broad.mit.edu 37 1 9804038 9804038 + Silent SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:9804038G>C uc001aqh.2 - 9 2019 c.1260C>G c.(1258-1260)CTC>CTG p.L420L CLSTN1_uc001aqi.2_Silent_p.L410L|CLSTN1_uc010oag.1_Silent_p.L420L NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 420 Extracellular (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CGTGGACATAGAGGGAGTAGT 0.458 NA 34 72 0 0 0 0 CAP1 10487 broad.mit.edu 37 1 40525048 40525048 + Missense_Mutation SNP A A T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:40525048A>T uc001cfa.3 + 2 259 c.30A>T c.(28-30)AGA>AGT p.R10S CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.R10S|CAP1_uc001cez.3_Missense_Mutation_p.R10S|CAP1_uc009vvz.2_Missense_Mutation_p.R10S|CAP1_uc010oje.1_5'UTR NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 10 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGGTAGAAAGATTGGAGAGGG 0.453 NA 27 69 0 0 0 0 RLF 6018 broad.mit.edu 37 1 40661333 40661334 + Missense_Mutation DNP GA GA AT TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:40661333_40661334GA>AT uc001cfc.3 + 4 535_536 c.504_505GA>AT c.(502-507)GGGAAT>GGATAT p.N169Y NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 169 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TGGAATTTGGGAATAATAACCT 0.356 NA 11 29 0 0 0 0 POMGNT1 55624 broad.mit.edu 37 1 46658985 46658985 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:46658985C>T uc001cpe.2 - 12 1266 c.1102G>A c.(1102-1104)GTG>ATG p.V368M POMGNT1_uc010olx.1_Missense_Mutation_p.V346M|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.V225M|POMGNT1_uc001cpg.2_Missense_Mutation_p.V368M|POMGNT1_uc001cpf.2_Missense_Mutation_p.V35M|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_Missense_Mutation_p.V35M NM_017739 NP_060209 Q8WZA1 PMGT1_HUMAN O-linked mannose 368 Lumenal (Potential). protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ACCTGAGACACGCGGGCATTC 0.587 NA 13 23 0 0 0 0 AK5 26289 broad.mit.edu 37 1 77984359 77984359 + Nonsense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:77984359G>T uc001dhn.2 + 11 1515 c.1258G>T c.(1258-1260)GAA>TAA p.E420* AK5_uc001dho.2_Nonsense_Mutation_p.E394* NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 420 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 ATCAGAATCTGAAAGAAGCAA 0.488 NA 19 49 1.56e-12 6.79e-12 1 0 CSDE1 7812 broad.mit.edu 37 1 115267850 115267850 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:115267850G>A uc001efk.2 - 15 2211 c.1745C>T c.(1744-1746)ACA>ATA p.T582I CSDE1_uc001efi.2_Missense_Mutation_p.T628I|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.T551I|CSDE1_uc001efm.2_Missense_Mutation_p.T597I|CSDE1_uc009wgv.2_Missense_Mutation_p.T582I|CSDE1_uc001efn.2_Missense_Mutation_p.T551I NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 582 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCTGAGTGTGTTTTGTTCAC 0.423 NA 44 121 0 0 0 0 S100A11 6282 broad.mit.edu 37 1 152005278 152005278 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:152005278G>A uc001ezn.2 - 3 298 c.178C>T c.(178-180)CTT>TTT p.L60F uc001ezm.1_Intron NM_005620 NP_005611 P31949 S10AB_HUMAN S100 calcium binding protein A11 60 EF-hand 2. negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction cytoplasm|nucleus|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding 0 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ATGCGGTCAAGGACACCAGGG 0.308 NA 10 54 0 0 0 0 DENND4B 9909 broad.mit.edu 37 1 153905172 153905172 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:153905172G>A uc001fdd.1 - 23 4106 c.3705C>T c.(3703-3705)GAC>GAT p.D1235D uc001fdc.1_Intron NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1235 ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGAGCCTTCGGTCACTGAGCA 0.627 NA 22 62 0 0 0 0 BLZF1 8548 broad.mit.edu 37 1 169345895 169345895 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:169345895G>C uc001gfx.1 + 3 583 c.146G>C c.(145-147)AGT>ACT p.S49T BLZF1_uc001gfw.2_Missense_Mutation_p.S49T|BLZF1_uc001gfy.2_Missense_Mutation_p.S49T|BLZF1_uc009wvp.1_Missense_Mutation_p.S26T NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 49 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) AGTCTTCAGAGTCCATGGAAG 0.438 NA 15 54 0 0 0 0 PIGC 5279 broad.mit.edu 37 1 172411603 172411603 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:172411603C>T uc001gil.2 - 2 441 c.160G>A c.(160-162)GAG>AAG p.E54K PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Missense_Mutation_p.E54K|PIGC_uc001gio.2_Missense_Mutation_p.E54K NM_153747 NP_714969 Q92535 PIGC_HUMAN phosphatidylinositol glycan, class C 54 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity lung(1) 1 ACACTGGACTCAAATACCACA 0.498 NA 32 109 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216462695 216462695 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:216462695G>C uc001hku.1 - 11 2285 c.1898C>G c.(1897-1899)TCG>TGG p.S633W USH2A_uc001hkv.2_Missense_Mutation_p.S633W NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 633 Laminin EGF-like 2.|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) ATCTATGGCCGAAGGATCTGC 0.408 NA HNSCC(13;0.011) 17 54 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240492663 240492663 + Silent SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:240492663C>A uc010pyd.1 + 10 4557 c.4332C>A c.(4330-4332)ATC>ATA p.I1444I FMN2_uc010pye.1_Silent_p.I1448I|FMN2_uc010pyf.1_Silent_p.I90I|FMN2_uc010pyg.1_Silent_p.I40I NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1444 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGTCACTAATCCCCAACTTTT 0.358 NA 16 64 1.36e-06 5.47e-06 1 0 RBP3 5949 broad.mit.edu 37 10 48388506 48388506 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:48388506G>A uc001jez.2 - 1 2486 c.2372C>T c.(2371-2373)ACG>ATG p.T791M NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 791 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CGGGATGGCCGTGGAGTAGCT 0.622 NA 8 17 0 0 0 0 JMJD1C 221037 broad.mit.edu 37 10 64966567 64966567 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:64966567G>A uc001jmn.2 - 10 5162 c.4862C>T c.(4861-4863)ACT>ATT p.T1621I JMJD1C_uc001jml.2_Missense_Mutation_p.T1402I|JMJD1C_uc001jmm.2_Missense_Mutation_p.T1333I|JMJD1C_uc010qiq.1_Missense_Mutation_p.T1439I|JMJD1C_uc009xpi.2_Missense_Mutation_p.T1439I|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.T658I NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1621 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) AGATTCATAAGTTCTTTTGGC 0.348 NA 24 71 0 0 0 0 HKDC1 80201 broad.mit.edu 37 10 70992576 70992576 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:70992576G>T uc001jpf.3 + 3 416 c.283G>T c.(283-285)GTG>TTG p.V95L HKDC1_uc010qje.1_5'Flank NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 95 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 AGTGCTGAAGGTGCAAGTCGC 0.458 NA 37 100 1.42e-22 6.49e-22 1 0 STAMBPL1 57559 broad.mit.edu 37 10 90665316 90665316 + Silent SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:90665316A>G uc001kfk.2 + 3 570 c.147A>G c.(145-147)CGA>CGG p.R49R STAMBPL1_uc010qmx.1_Silent_p.R49R|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Silent_p.R49R|STAMBPL1_uc001kfm.2_5'Flank NM_020799 NP_065850 Q96FJ0 STALP_HUMAN STAM binding protein-like 1 49 metal ion binding|metallopeptidase activity|protein binding ovary(1) 1 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TCACTCCACGACGTTACTTTA 0.423 NA 27 58 0 0 0 0 TNKS2 80351 broad.mit.edu 37 10 93619309 93619309 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:93619309C>T uc001khp.2 + 25 3482 c.3185C>T c.(3184-3186)GCT>GTT p.A1062V NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 1062 PARP catalytic. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) ATTTATTTTGCTGAAAACTCT 0.403 NA 25 62 0 0 0 0 MMS19 64210 broad.mit.edu 37 10 99228076 99228076 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:99228076C>T uc001kns.3 - 13 1376 c.1151G>A c.(1150-1152)CGG>CAG p.R384Q MMS19_uc009xvs.2_5'Flank|MMS19_uc009xvt.2_Intron|MMS19_uc001knr.2_Missense_Mutation_p.R226Q|MMS19_uc010qox.1_Missense_Mutation_p.R362Q|MMS19_uc001knt.2_Missense_Mutation_p.R384Q|MMS19_uc001knu.1_RNA NM_022362 NP_071757 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog 384 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity 0 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) GTCACAGGCCCGGGCAGATGC 0.552 NA Direct_reversal_of_damage|NER 22 74 0 0 0 0 ADAM12 8038 broad.mit.edu 37 10 127724751 127724751 + Missense_Mutation SNP T T G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr10:127724751T>G uc001ljk.2 - 21 2915 c.2502A>C c.(2500-2502)AGA>AGC p.R834S ADAM12_uc010qul.1_Missense_Mutation_p.R785S NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 834 SH3-binding; class II (By similarity).|SH3-binding; class I (By similarity).|Cytoplasmic (Potential). cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CTGGCAGGGGTCTGGCAGGGA 0.502 NA 10 48 0 0 0 0 TNNT3 7140 broad.mit.edu 37 11 1956071 1956071 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:1956071G>A uc001luu.3 + 14 815 c.603G>A c.(601-603)AAG>AAA p.K201K TNNT3_uc001lun.2_Silent_p.K97K|TNNT3_uc001luw.3_Silent_p.K193K|TNNT3_uc001luo.3_Silent_p.K193K|TNNT3_uc001lup.3_Silent_p.K199K|TNNT3_uc001luq.3_Silent_p.K193K|TNNT3_uc001lur.2_Silent_p.K193K|TNNT3_uc010qxf.1_Silent_p.K199K|TNNT3_uc010qxg.1_Silent_p.K133K NM_006757 NP_006748 P45378 TNNT3_HUMAN troponin T3, skeletal, fast isoform 1 212 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) ACAAGGCCAAGGAGCTCTGGG 0.612 NA 46 149 0 0 0 0 ART1 417 broad.mit.edu 37 11 3681420 3681420 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:3681420G>T uc001lye.1 + 3 772 c.671G>T c.(670-672)TGC>TTC p.C224F ART1_uc009yeb.1_Missense_Mutation_p.C224F NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 224 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) ATCTGGACCTGCCTTGGGGCC 0.602 NA 20 55 8.28e-16 3.69e-15 1 0 DCDC1 341019 broad.mit.edu 37 11 31312208 31312208 + Nonsense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:31312208C>A uc001msv.2 - 7 1148 c.946G>T c.(946-948)GAA>TAA p.E316* DCDC1_uc001msu.1_Intron NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 316 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) TTCATTGTTTCTTTTCCCACT 0.323 NA 12 38 5.17e-11 2.21e-10 1 0 PHF21A 51317 broad.mit.edu 37 11 45967551 45967551 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:45967551C>T uc001ncc.3 - 14 1913 c.1289G>A c.(1288-1290)CGT>CAT p.R430H PHF21A_uc001ncb.3_Intron|PHF21A_uc009ykx.2_Intron|PHF21A_uc001nce.2_Missense_Mutation_p.R431H|PHF21A_uc001nca.1_Missense_Mutation_p.R166H NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN BRAF35/HDAC2 complex isoform a 430 A.T hook. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 TTTTGGAGGACGACCTATATA 0.488 NA 20 72 0 0 0 0 OR5D13 390142 broad.mit.edu 37 11 55540981 55540981 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:55540981C>T uc010ril.1 + 1 68 c.68C>T c.(67-69)CCA>CTA p.P23L NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 23 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TCAGAATACCCAGAAATCCAG 0.373 NA 9 120 0 0 0 0 PCNXL3 399909 broad.mit.edu 37 11 65396095 65396095 + Silent SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr11:65396095C>T uc001oey.2 + 23 3732 c.3732C>T c.(3730-3732)TTC>TTT p.F1244F PCNXL3_uc001oez.2_Silent_p.F131F NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1244 Helical; (Potential). integral to membrane 0 AGCTGCGTTTCGTGCTGACCT 0.602 NA 20 52 0 0 0 0 WNK1 65125 broad.mit.edu 37 12 993920 993920 + Missense_Mutation SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:993920A>G uc001qio.3 + 19 4457 c.3950A>G c.(3949-3951)GAA>GGA p.E1317G WNK1_uc001qip.3_Missense_Mutation_p.E1070G|WNK1_uc001qir.3_Missense_Mutation_p.E490G NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1317 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CAAATGACAGAAGGACCCAAC 0.478 NA 37 71 0 0 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826562 43826562 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:43826562T>C uc010skx.1 - 20 2773 c.2773A>G c.(2773-2775)AGA>GGA p.R925G ADAMTS20_uc001rno.1_Missense_Mutation_p.R79G|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R79G NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 925 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCCAAGGTTCTATATCCTTGA 0.383 NA 3 176 0 0 0 0 SLC26A10 65012 broad.mit.edu 37 12 58014188 58014189 + Missense_Mutation DNP CC CC AA TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:58014188_58014189CC>AA uc001spe.2 + 1 496_497 c.185_186CC>AA c.(184-186)CCC>CAA p.P62Q uc001spc.2_5'Flank|SLC26A10_uc001spf.2_RNA NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 62 Helical; (Potential). integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) TCTTTCTTCCCCGTCCTCATCT 0.54 NA 10 624 0 0 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58021971 58021971 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:58021971G>A uc001spg.1 - 9 1509 c.1077C>T c.(1075-1077)TTC>TTT p.F359F B4GALNT1_uc010sru.1_Silent_p.F304F NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 359 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CCGTGAAGACGAAGTCGTCGT 0.652 NA 17 75 0 0 0 0 WSCD2 9671 broad.mit.edu 37 12 108618515 108618515 + Splice_Site SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:108618515G>T uc001tms.2 + 5 1427 c.683_splice c.e5-1 p.Y228_splice WSCD2_uc001tmt.2_Splice_Site_p.Y228_splice|WSCD2_uc001tmu.2_5'Flank NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 TGGCTCTTCAGATGGAAGTGC 0.448 NA 22 86 9.96e-16 4.41e-15 1 0 FAM101A 144347 broad.mit.edu 37 12 124798965 124798965 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:124798965C>A uc001ugd.1 + 3 545 c.302C>A c.(301-303)ACC>AAC p.T101N FAM101A_uc001uge.1_Missense_Mutation_p.T101N NM_181709 NP_859060 Q6ZTI6 F101A_HUMAN hypothetical protein LOC144347 182 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) TTCCGGACCACCCTGCACTGC 0.706 NA 26 59 7.34e-06 2.91e-05 1 0 ING1 3621 broad.mit.edu 37 13 111368155 111368155 + Missense_Mutation SNP T T G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr13:111368155T>G uc001vri.2 + 1 797 c.365T>G c.(364-366)GTG>GGG p.V122G CARS2_uc010tjm.1_5'Flank|uc001vre.2_5'Flank|ING1_uc001vrf.2_Intron|ING1_uc001vrg.2_Intron|ING1_uc001vrh.2_Intron NM_005537 NP_005528 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 isoform D 122 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding ovary(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GCCTGGCGGGTGTCGCCCCTG 0.721 NA 4 5 0 0 0 0 POTEG 404785 broad.mit.edu 37 14 19553628 19553628 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr14:19553628G>T uc001vuz.1 + 1 264 c.212G>T c.(211-213)TGG>TTG p.W71L POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 71 ovary(1) 1 TGCTTCCCCTGGTGCAGGGGG 0.587 NA 80 698 1.38e-34 6.46e-34 1 0 HEATR5A 25938 broad.mit.edu 37 14 31814337 31814337 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr14:31814337C>T uc001wrf.3 - 14 2212 c.2135G>A c.(2134-2136)CGC>CAC p.R712H HEATR5A_uc010ami.2_Missense_Mutation_p.R610H|HEATR5A_uc001wrg.1_Missense_Mutation_p.R594H|HEATR5A_uc010tpk.1_Missense_Mutation_p.R1005H NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 999 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) ATTCAAACAGCGACCAAGGCT 0.388 NA 35 111 0 0 0 0 TXNDC16 57544 broad.mit.edu 37 14 53010231 53010231 + Silent SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr14:53010231G>C uc001wzs.2 - 3 494 c.45C>G c.(43-45)GTC>GTG p.V15V TXNDC16_uc010tqu.1_Silent_p.V15V|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 15 cell redox homeostasis extracellular region 0 Breast(41;0.0716) TGCACATTATGACAAAAGAGA 0.318 NA 16 50 0 0 0 0 OR4N4 283694 broad.mit.edu 37 15 22382574 22382574 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr15:22382574C>A uc001yuc.1 + 7 1083 c.102C>A c.(100-102)TTC>TTA p.F34L LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.F34L NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTTAATTTTCTACCTTATCA 0.423 NA 67 98 2.36e-34 1.1e-33 1 0 TRIM69 140691 broad.mit.edu 37 15 45047401 45047401 + Nonsense_Mutation SNP A A T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr15:45047401A>T uc001zuf.2 + 3 1205 c.310A>T c.(310-312)AAG>TAG p.K104* TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Nonsense_Mutation_p.K104*|TRIM69_uc001zuh.1_Intron NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a 104 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) AGAGAAGATTAAGAAGTTACC 0.438 NA 23 33 0 0 0 0 FAM81A 145773 broad.mit.edu 37 15 59806519 59806519 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr15:59806519C>A uc002agc.2 + 7 869 c.682C>A c.(682-684)CAG>AAG p.Q228K NM_152450 NP_689663 Q8TBF8 FA81A_HUMAN hypothetical protein LOC145773 228 ovary(1) 1 ACTCAGTAACCAGATATTATC 0.279 NA 16 28 0.000308642 0.00116083 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79059041 79059041 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr15:79059041T>C uc002bej.3 - 19 3423 c.3212A>G c.(3211-3213)AAT>AGT p.N1071S ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CTCGTGGAAATTGATGAAATT 0.617 NA 5 42 0 0 0 0 POLG 5428 broad.mit.edu 37 15 89864134 89864134 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr15:89864134G>A uc002bns.3 - 18 3126 c.2844C>T c.(2842-2844)ATC>ATT p.I948I POLG_uc002bnr.3_Silent_p.I948I NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 948 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) CGTAGTTGAAGATTTTGGCAT 0.557 NA DNA_polymerases_(catalytic_subunits) 14 32 0 0 0 0 OR2C1 4993 broad.mit.edu 37 16 3406177 3406177 + Silent SNP C C G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:3406177C>G uc002cuw.1 + 1 289 c.237C>G c.(235-237)CCC>CCG p.P79P NM_012368 NP_036500 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, 79 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTTCAGTCCCCCAAATGCTGA 0.547 NA 56 44 0 0 0 0 SETD6 79918 broad.mit.edu 37 16 58552079 58552079 + Missense_Mutation SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:58552079A>G uc002ens.2 + 6 976 c.917A>G c.(916-918)AAC>AGC p.N306S SETD6_uc002enr.2_Missense_Mutation_p.N282S|SETD6_uc010cdm.2_RNA NM_001160305 NP_001153777 Q8TBK2 SETD6_HUMAN SET domain containing 6 isoform a 306 negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity ovary(1) 1 TATCCTGACAACACAGATGAC 0.428 NA 17 49 0 0 0 0 HP 3240 broad.mit.edu 37 16 72094489 72094489 + Silent SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:72094489C>T uc002fbr.3 + 7 965 c.921C>T c.(919-921)GAC>GAT p.D307D TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.D248D|HP_uc002fbt.3_Silent_p.D248D|HP_uc002fbu.1_Silent_p.D45D|HP_uc002fbv.3_Silent_p.D218D|HP_uc002fbw.3_Silent_p.D129D|HP_uc002fbx.3_Silent_p.D129D|HPR_uc002fby.2_5'Flank NM_005143 NP_005134 P00738 HPT_HUMAN haptoglobin isoform 1 preproprotein 307 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity 0 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) CTGACCAAGACCAATGCATAA 0.493 NA 15 42 0 0 0 0 ZFHX3 463 broad.mit.edu 37 16 72821365 72821365 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:72821365C>T uc002fck.2 - 10 11483 c.10810G>A c.(10810-10812)GCC>ACC p.A3604T uc002fcj.1_Intron|ZFHX3_uc002fcl.2_Missense_Mutation_p.A2690T NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3604 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GAGGAGGGGGCGGCGGCCGAC 0.652 NA 9 35 0 0 0 0 MBTPS1 8720 broad.mit.edu 37 16 84088086 84088086 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:84088086G>T uc002fhi.2 - 23 3629 c.3127C>A c.(3127-3129)CAG>AAG p.Q1043K MBTPS1_uc002fhh.2_Missense_Mutation_p.Q547K NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 1043 Arg/Lys/Pro-rich (basic).|Cytoplasmic (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 GGGTGAACCTGCTGCATGAGC 0.642 NA 7 26 0.000274275 0.00103511 1 0 SMG6 23293 broad.mit.edu 37 17 2200598 2200598 + Missense_Mutation SNP T T A rs143802482 TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:2200598T>A uc002fub.1 - 4 2145 c.2090A>T c.(2089-2091)AAG>ATG p.K697M NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 697 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 CAGTTTGAACTTGTAAGTAAC 0.348 NA 34 93 0 0 0 0 GPR172B 55065 broad.mit.edu 37 17 4937188 4937188 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:4937188G>T uc002gap.3 - 3 1309 c.596C>A c.(595-597)GCA>GAA p.A199E GPR172B_uc002gao.3_Missense_Mutation_p.A199E|GPR172B_uc010ckw.2_Missense_Mutation_p.A77E|GPR172B_uc010ckx.2_Missense_Mutation_p.A199E NM_001104577 NP_001098047 Q9NWF4 RFT_HUMAN G protein-coupled receptor 172B precursor 199 Helical; (Potential). integral to plasma membrane receptor activity|riboflavin transporter activity 0 GGCAGTCAGTGCCCAGAAGAA 0.637 NA 31 81 9.04e-19 4.12e-18 1 0 TP53 7157 broad.mit.edu 37 17 7577609 7577609 + Splice_Site SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:7577609C>T uc002gim.2 - 7 867 c.673_splice c.e7-1 p.V225_splice TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron 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.?(12)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(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) CAGAGCCAACCTAGGAGATAA 0.488 111 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) 17 49 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579575 7579575 + Nonsense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:7579575G>A uc002gim.2 - 4 306 c.112C>T c.(112-114)CAA>TAA p.Q38* TP53_uc002gig.1_Nonsense_Mutation_p.Q38*|TP53_uc002gih.2_Nonsense_Mutation_p.Q38*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.Q38*|TP53_uc010cni.1_Nonsense_Mutation_p.Q38*|TP53_uc002gij.2_Nonsense_Mutation_p.Q38*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Nonsense_Mutation_p.Q53* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 38 Transcription activation (acidic).|Interaction with HRMT1L2. 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.Q38*(2)|p.?(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S37fs*79(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) TCCATTGCTTGGGACGGCAAG 0.418 111 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) 51 180 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10362627 10362627 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:10362627C>T uc002gmn.2 - 15 1639 c.1528G>A c.(1528-1530)GAG>AAG p.E510K uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 510 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 AACTCCCACTCGATGCCTTCC 0.473 NA 26 103 0 0 0 0 GGNBP2 79893 broad.mit.edu 37 17 34945780 34945780 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:34945780G>A uc002hnb.2 + 14 2282 c.2033G>A c.(2032-2034)CGG>CAG p.R678Q DHRS11_uc002hnd.2_5'Flank NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 678 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AAATACTGCCGGTTAAATGAT 0.373 NA 55 129 0 0 0 0 TADA2A 6871 broad.mit.edu 37 17 35800747 35800747 + Silent SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:35800747A>G uc002hnt.2 + 6 583 c.426A>G c.(424-426)ACA>ACG p.T142T TADA2A_uc002hnu.1_Silent_p.T142T|TADA2A_uc002hnv.2_Silent_p.T142T|TADA2A_uc010wdd.1_Silent_p.T142T|TADA2A_uc002hnw.2_Silent_p.T41T|TADA2A_uc010cvb.2_5'UTR NM_001488 NP_001479 O75478 TAD2A_HUMAN transcriptional adaptor 2A isoform a 142 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(3)|skin(1) 4 CTGCTGACACAGCCATTCCAT 0.423 NA 5 37 0 0 0 0 STARD3 10948 broad.mit.edu 37 17 37817129 37817129 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:37817129G>A uc002hsd.2 + 12 1145 c.1021G>A c.(1021-1023)GTG>ATG p.V341M STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.V323M|STARD3_uc010wei.1_Missense_Mutation_p.V341M|STARD3_uc002hsf.2_Missense_Mutation_p.V207M|STARD3_uc002hsg.2_Missense_Mutation_p.V174M NM_006804 NP_006795 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain 341 START.|Cytoplasmic (Potential). cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGCGGGCGGCGTGGTCTCCCC 0.607 NA 40 95 0 0 0 0 BPTF 2186 broad.mit.edu 37 17 65914934 65914934 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr17:65914934G>T uc002jgf.2 + 12 5469 c.5408G>T c.(5407-5409)GGA>GTA p.G1803V BPTF_uc002jge.2_Missense_Mutation_p.G1929V NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1929 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GCTCCTCCAGGAGGAGGGACT 0.398 NA 33 73 8.17e-17 3.7e-16 1 0 THOP1 7064 broad.mit.edu 37 19 2810358 2810358 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:2810358G>A uc002lwj.2 + 10 1667 c.1512G>A c.(1510-1512)CCG>CCA p.P504P THOP1_uc010xgz.1_Silent_p.P383P|THOP1_uc002lwk.2_Silent_p.P15P NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 504 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGGCGCCGTCGCAGATGC 0.682 NA 17 25 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9048464 9048464 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:9048464C>A uc002mkp.2 - 5 33371 c.33167G>T c.(33166-33168)AGT>ATT p.S11056I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11058 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 AGTTGGAATACTTGTACTGTT 0.498 NA 30 118 7.26e-15 3.2e-14 1 0 ZNF791 163049 broad.mit.edu 37 19 12734543 12734543 + Silent SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:12734543G>C uc002mua.2 + 2 195 c.33G>C c.(31-33)GTG>GTC p.V11V ZNF791_uc010xml.1_5'UTR|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_Intron NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 11 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ATGTGTCTGTGAGCTTCAGCC 0.443 NA 4 132 0 0 0 0 TNPO2 30000 broad.mit.edu 37 19 12822400 12822400 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:12822400C>T uc002muo.2 - 10 1103 c.918G>A c.(916-918)ATG>ATA p.M306I TNPO2_uc002mup.2_Missense_Mutation_p.M398I|TNPO2_uc002muq.2_Missense_Mutation_p.M306I|TNPO2_uc002mur.2_Missense_Mutation_p.M306I NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 306 HEAT 5. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 CCGAGTACTTCATCCCATTCA 0.592 NA 7 25 0 0 0 0 ZNF790 388536 broad.mit.edu 37 19 37309438 37309438 + Missense_Mutation SNP T T A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:37309438T>A uc002oew.2 - 5 1927 c.1808A>T c.(1807-1809)AAC>ATC p.N603I uc002oev.1_Intron NM_206894 NP_996777 Q6PG37 ZN790_HUMAN zinc finger protein 790 603 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTGAGCAAAGTTTGACTCATG 0.323 NA 34 94 0 0 0 0 GRIN2D 2906 broad.mit.edu 37 19 48945466 48945466 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:48945466G>A uc002pjc.3 + 12 2588 c.2500G>A c.(2500-2502)GAG>AAG p.E834K GRIN2D_uc010elx.2_Missense_Mutation_p.E69K NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 834 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TGACAAAATCGAGGTGATGAG 0.577 NA 49 124 0 0 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028060 59028060 + Silent SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr19:59028060C>T uc002qtd.2 - 2 1273 c.981G>A c.(979-981)CCG>CCA p.P327P ZBTB45_uc002qte.2_Silent_p.P327P|ZBTB45_uc002qtf.2_Silent_p.P327P NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 327 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GTGCAACGGGCGGCCCTGGGG 0.692 NA 12 20 0 0 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459965 107459965 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:107459965C>T uc002tdq.2 - 2 588 c.469G>A c.(469-471)GGC>AGC p.G157S ST6GAL2_uc002tdr.2_Missense_Mutation_p.G157S|ST6GAL2_uc002tds.3_Missense_Mutation_p.G157S NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 157 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 TCCCGTGGGCCTGGCTCCCCG 0.632 NA 52 129 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179616392 179616392 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:179616392T>C uc002unb.2 - 46 10959 c.10735A>G c.(10735-10737)AGG>GGG p.R3579G TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTAGTAACCTATAACTTCCA 0.373 NA 3 129 0 0 0 0 PARD3B 117583 broad.mit.edu 37 2 206265816 206265816 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:206265816G>C uc002var.1 + 19 2917 c.2710G>C c.(2710-2712)GAG>CAG p.E904Q PARD3B_uc002vao.1_Missense_Mutation_p.E904Q|PARD3B_uc002vap.1_Missense_Mutation_p.E842Q|PARD3B_uc002vaq.1_Missense_Mutation_p.E835Q NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 904 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GAGAGAAGAAGAGCTGGAGAA 0.428 NA 3 13 0 0 0 0 MAP2 4133 broad.mit.edu 37 2 210518097 210518097 + Nonsense_Mutation SNP C C G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:210518097C>G uc002vde.1 + 4 451 c.203C>G c.(202-204)TCA>TGA p.S68* MAP2_uc002vdc.1_Nonsense_Mutation_p.S68*|MAP2_uc002vdd.1_Nonsense_Mutation_p.S68*|MAP2_uc002vdf.1_Nonsense_Mutation_p.S68*|MAP2_uc002vdg.1_Nonsense_Mutation_p.S68*|MAP2_uc002vdh.1_Nonsense_Mutation_p.S68*|MAP2_uc002vdi.1_Nonsense_Mutation_p.S68* NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 68 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GGCACCTATTCAAATACCAAA 0.532 NA 23 52 0 0 0 0 ITPA 3704 broad.mit.edu 37 20 3193868 3193868 + Missense_Mutation SNP T T G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr20:3193868T>G uc002wid.2 + 2 262 c.120T>G c.(118-120)ATT>ATG p.I40M ITPA_uc002wie.2_Missense_Mutation_p.I23M|ITPA_uc002wif.2_Intron NM_033453 NP_258412 Q9BY32 ITPA_HUMAN inosine triphosphatase isoform a 40 nucleotide metabolic process cytoplasm metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding ovary(1) 1 CACAGAAAATTGACCGTATGT 0.403 NA 25 51 0 0 0 0 SLC32A1 140679 broad.mit.edu 37 20 37357005 37357005 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr20:37357005C>T uc002xjc.2 + 2 1564 c.1301C>T c.(1300-1302)ACG>ATG p.T434M NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 434 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGGGGGCTGACGCTGCGCTGC 0.682 NA 14 41 0 0 0 0 INPP5J 27124 broad.mit.edu 37 22 31520883 31520883 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr22:31520883C>T uc003aju.3 + 2 250 c.158C>T c.(157-159)TCG>TTG p.S53L INPP5J_uc010gwf.2_Missense_Mutation_p.S53L|INPP5J_uc003ajv.3_5'UTR|INPP5J_uc003ajs.3_5'UTR|INPP5J_uc011alk.1_5'UTR|INPP5J_uc010gwg.2_Intron|INPP5J_uc003ajw.2_Intron|INPP5J_uc003ajt.3_Missense_Mutation_p.S53L|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 53 cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 CTAGGACCCTCGGAACCAAGG 0.572 NA 11 34 0 0 0 0 EIF3L 51386 broad.mit.edu 37 22 38258977 38258977 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr22:38258977G>A uc003auf.2 + 6 524 c.437G>A c.(436-438)GGG>GAG p.G146E EIF3L_uc003aue.1_Missense_Mutation_p.G146E|EIF3L_uc011ann.1_Intron|EIF3L_uc003aug.2_Missense_Mutation_p.G38E NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3 146 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 TCTTTACAGGGGGGACCTTCC 0.383 NA 19 48 0 0 0 0 TATDN2 9797 broad.mit.edu 37 3 10291089 10291089 + Missense_Mutation SNP T T G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:10291089T>G uc003bvg.2 + 2 786 c.205T>G c.(205-207)TTA>GTA p.L69V TATDN2_uc003bvf.2_Missense_Mutation_p.L69V|TATDN2_uc011atr.1_Missense_Mutation_p.L69V|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA NM_014760 NP_055575 Q93075 TATD2_HUMAN TatD DNase domain containing 2 69 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding pancreas(2) 2 CTCGCGGAGGTTATCCTGGGG 0.652 NA 7 104 0 0 0 0 DNAJC13 23317 broad.mit.edu 37 3 132166224 132166224 + Silent SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:132166224C>T uc003eor.2 + 4 269 c.204C>T c.(202-204)TTC>TTT p.F68F DNAJC13_uc010htq.1_Silent_p.F68F NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 68 heat shock protein binding ovary(1)|breast(1) 2 GAACGGAGTTCAACCTCACAT 0.368 NA 13 69 0 0 0 0 GFM1 85476 broad.mit.edu 37 3 158363475 158363475 + Nonsense_Mutation SNP C C T rs119470019 TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:158363475C>T uc003fce.2 + 2 246 c.139C>T c.(139-141)CGA>TGA p.R47* GFM1_uc003fcd.2_Nonsense_Mutation_p.R47*|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_5'Flank NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 47 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TGAAAAAATACGAAATATTGG 0.383 NA 27 53 0 0 0 0 SERPINI2 5276 broad.mit.edu 37 3 167183380 167183380 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:167183380C>A uc003fer.1 - 3 618 c.560G>T c.(559-561)GGA>GTA p.G187V SERPINI2_uc003fes.1_Missense_Mutation_p.G197V|SERPINI2_uc003fet.1_Missense_Mutation_p.G187V NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 187 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 TTTCCAATCTCCTTTGAAATA 0.388 NA 15 35 3.27e-08 1.34e-07 1 0 SERPINI2 5276 broad.mit.edu 37 3 167183382 167183382 + Silent SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:167183382T>C uc003fer.1 - 3 616 c.558A>G c.(556-558)AAA>AAG p.K186K SERPINI2_uc003fes.1_Silent_p.K196K|SERPINI2_uc003fet.1_Silent_p.K186K NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 186 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 TCCAATCTCCTTTGAAATAAA 0.393 NA 16 34 0 0 0 0 MECOM 2122 broad.mit.edu 37 3 168838947 168838947 + Silent SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:168838947G>T uc003ffi.3 - 6 734 c.465C>A c.(463-465)GTC>GTA p.V155V MECOM_uc010hwk.1_Silent_p.V178V|MECOM_uc003ffj.3_Silent_p.V220V|MECOM_uc011bpi.1_Silent_p.V156V|MECOM_uc003ffn.3_Silent_p.V155V|MECOM_uc003ffk.2_Silent_p.V155V|MECOM_uc003ffl.2_Silent_p.V315V|MECOM_uc011bpj.1_Silent_p.V343V|MECOM_uc011bpk.1_Silent_p.V145V|MECOM_uc010hwn.2_Silent_p.V343V NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 155 Interaction with MAPK9, SMAD3 and probably SUV39H1. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CCCGGGCACCGACATGCTGAG 0.522 NA 16 42 9.17e-09 3.8e-08 1 0 CHRD 8646 broad.mit.edu 37 3 184104380 184104380 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:184104380C>T uc003fov.2 + 16 2279 c.2033C>T c.(2032-2034)GCG>GTG p.A678V CHRD_uc003fow.2_Missense_Mutation_p.A308V|CHRD_uc003fox.2_Missense_Mutation_p.A678V|CHRD_uc003foy.2_Missense_Mutation_p.A308V|CHRD_uc010hyc.2_Missense_Mutation_p.A268V|CHRD_uc011brr.1_Intron NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 678 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCTCTGCTGCGCCGCCTGTG 0.711 NA 5 17 0 0 0 0 NCBP2 22916 broad.mit.edu 37 3 196664503 196664503 + Missense_Mutation SNP C C G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:196664503C>G uc003fxd.1 - 3 367 c.277G>C c.(277-279)GAT>CAT p.D93H NCBP2_uc003fxb.1_Missense_Mutation_p.D23H|NCBP2_uc011btz.1_Missense_Mutation_p.D75H|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Splice_Site_p.Y40_splice|NCBP2_uc003fxf.2_3'UTR NM_007362 NP_031388 P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa 93 RRM. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm nucleotide binding|protein binding|RNA 7-methylguanosine cap binding 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) TTTTCCGCATCTGCGCGTGAG 0.448 NA 21 77 0 0 0 0 MFSD10 10227 broad.mit.edu 37 4 2934445 2934445 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr4:2934445C>T uc003gfw.2 - 4 727 c.413G>A c.(412-414)CGG>CAG p.R138Q MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_Intron|MFSD10_uc003gfz.2_Missense_Mutation_p.R138Q|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.R138Q|MFSD10_uc003ggb.1_Missense_Mutation_p.R138Q|MFSD10_uc003ggc.2_Missense_Mutation_p.R138Q|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank NM_001120 NP_001111 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 138 apoptosis integral to membrane tetracycline transporter activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CGCAAAGCTCCGAGAGGTGGC 0.652 NA 15 64 0 0 0 0 ATP8A1 10396 broad.mit.edu 37 4 42445599 42445599 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr4:42445599G>T uc003gwr.2 - 33 3338 c.3106C>A c.(3106-3108)CCT>ACT p.P1036T ATP8A1_uc003gwq.2_Missense_Mutation_p.P262T|ATP8A1_uc003gws.2_Missense_Mutation_p.P1021T NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 1036 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) GACATATCAGGGGCCATCGGA 0.433 NA 11 28 4.37e-10 1.84e-09 1 0 CORIN 10699 broad.mit.edu 37 4 47605597 47605597 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr4:47605597T>C uc003gxm.2 - 20 2722 c.2629A>G c.(2629-2631)ACC>GCC p.T877A CORIN_uc011bzf.1_Missense_Mutation_p.T738A|CORIN_uc011bzg.1_Missense_Mutation_p.T810A NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 877 Extracellular (Potential).|Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 AGGATGATGGTCTTCACAAAG 0.488 NA 3 50 0 0 0 0 ADCY2 108 broad.mit.edu 37 5 7396480 7396480 + Missense_Mutation SNP A A T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:7396480A>T uc003jdz.1 + 1 138 c.71A>T c.(70-72)GAC>GTC p.D24V NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 24 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GGCGGCGGAGACGGGCTGCCG 0.652 NA 16 22 0 0 0 0 CDH12 1010 broad.mit.edu 37 5 21752115 21752115 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:21752115G>T uc010iuc.2 - 12 2574 c.2116C>A c.(2116-2118)CCC>ACC p.P706T CDH12_uc011cno.1_Missense_Mutation_p.P666T|CDH12_uc003jgk.2_Missense_Mutation_p.P706T|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 706 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TCTTCCATGGGTGGTCTCTGA 0.448 NA HNSCC(59;0.17) 23 92 1.64e-13 7.18e-13 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33576387 33576387 + Silent SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:33576387C>A uc003jia.1 - 19 3907 c.3744G>T c.(3742-3744)CTG>CTT p.L1248L ADAMTS12_uc010iuq.1_Silent_p.L1163L NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1248 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CCAGAGGGAGCAGAGTGTTGG 0.522 NA HNSCC(64;0.19) 56 177 1.46e-29 6.77e-29 1 0 UGT3A2 167127 broad.mit.edu 37 5 36066838 36066838 + Silent SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:36066838C>A uc003jjz.1 - 1 147 c.54G>T c.(52-54)CTG>CTT p.L18L UGT3A2_uc011cos.1_Silent_p.L18L|UGT3A2_uc011cot.1_5'UTR NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 18 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) CCTCTGAGAGCAGGACCCCAG 0.607 NA 97 131 3.58e-33 1.66e-32 1 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139781714 139781714 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:139781714G>A uc003lfs.1 + 1 286 c.162G>A c.(160-162)TCG>TCA p.S54S ANKHD1_uc003lfq.1_Silent_p.S54S|ANKHD1_uc003lfr.2_Silent_p.S54S|uc003lfn.2_5'Flank|ANKHD1_uc003lfp.2_Silent_p.S54S|ANKHD1_uc003lfo.2_Silent_p.S54S|ANKHD1_uc010jfk.2_Silent_p.S54S NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 54 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCAGCGTCGGGAGTcggca 0.622 NA 16 9 0 0 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140789785 140789785 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:140789785G>A uc003lkj.1 + 1 2016 c.2016G>A c.(2014-2016)CTG>CTA p.L672L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.L672L|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 672 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) AAGAGATACTGCCAGACCTCA 0.607 NA 66 54 0 0 0 0 NR3C1 2908 broad.mit.edu 37 5 142675046 142675046 + Missense_Mutation SNP T T G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:142675046T>G uc003lmz.2 - 7 2494 c.2002A>C c.(2002-2004)ACC>CCC p.T668P NR3C1_uc003lmy.2_Missense_Mutation_p.T669P|NR3C1_uc003lna.2_Missense_Mutation_p.T668P|NR3C1_uc003lnb.2_Missense_Mutation_p.T668P|NR3C1_uc011dbk.1_Missense_Mutation_p.T271P|NR3C1_uc003lnc.2_Missense_Mutation_p.T668P|NR3C1_uc003lnd.2_Missense_Mutation_p.T668P|NR3C1_uc003lne.2_Missense_Mutation_p.T668P|NR3C1_uc003lnf.2_Missense_Mutation_p.T669P NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 668 Steroid-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) AGCAGTAAGGTTTTCATACAG 0.378 NA 9 38 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150929062 150929062 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:150929062C>T uc003lue.3 - 8 4596 c.4583G>A c.(4582-4584)CGA>CAA p.R1528Q GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1528 Extracellular (Potential).|Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCTGGTCTCGGACCTATGG 0.483 NA 26 12 0 0 0 0 WWC1 23286 broad.mit.edu 37 5 167850580 167850580 + Silent SNP C C G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:167850580C>G uc003lzu.2 + 11 1410 c.1317C>G c.(1315-1317)CCC>CCG p.P439P WWC1_uc003lzv.2_Silent_p.P439P|WWC1_uc011den.1_Silent_p.P439P|WWC1_uc003lzw.2_Silent_p.P238P NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 439 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GCAGCAGCCCCGGATCCCTCA 0.617 NA 32 111 0 0 0 0 LSM2 57819 broad.mit.edu 37 6 31765655 31765655 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr6:31765655G>A uc003nxg.2 - 5 376 c.167C>T c.(166-168)TCA>TTA p.S56L VARS_uc003nxe.2_5'Flank|VARS_uc011doi.1_5'Flank NM_021177 NP_067000 Q9Y333 LSM2_HUMAN LSM2 homolog, U6 small nuclear RNA associated 56 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytosol|nucleoplasm U6 snRNA binding 0 GTTCTTCACTGATAACTAGAC 0.493 NA 47 154 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38843598 38843598 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr6:38843598G>A uc003ooe.1 + 51 7801 c.7201G>A c.(7201-7203)GAT>AAT p.D2401N NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTATGTTACTGATTATGGTAA 0.328 NA 10 16 0 0 0 0 ZNF451 26036 broad.mit.edu 37 6 56993596 56993596 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr6:56993596G>A uc003pdm.1 + 5 606 c.382G>A c.(382-384)GAA>AAA p.E128K ZNF451_uc003pdl.2_Missense_Mutation_p.E128K|ZNF451_uc003pdn.1_Missense_Mutation_p.E128K|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.E128K NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTCTGATACAGAAGCAGCAAG 0.373 NA 24 48 0 0 0 0 SGK1 6446 broad.mit.edu 37 6 134495871 134495871 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr6:134495871G>A uc003qen.3 - 1 164 c.75C>T c.(73-75)ATC>ATT p.I25I SGK1_uc003qeo.3_Intron|SGK1_uc011ect.1_5'UTR|SGK1_uc011ecu.1_Silent_p.I25I|SGK1_uc011ecv.1_Intron|SGK1_uc011ecw.1_Intron NM_005627 NP_005618 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 isoform 25 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(3)|stomach(1)|lung(1)|central_nervous_system(1) 6 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) TGCACTCACCGATGAGAATTG 0.542 NA OREG0017675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 113 0 0 0 0 TARP 445347 broad.mit.edu 37 7 38357071 38357071 + Nonsense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:38357071G>C uc003tge.1 - 2 400 c.23C>G c.(22-24)TCA>TGA p.S8* uc003tfz.1_5'Flank|TARP_uc003tgf.1_5'Flank|TARP_uc003tgj.1_5'Flank|TARP_uc003tgh.1_5'Flank|TARP_uc003tgi.1_5'Flank|TARP_uc003tgg.1_5'Flank A2JGV3 A2JGV3_HUMAN Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds. Error:Variant_position_missing_in_A2JGV3_after_alignment 0 TGCCAGCGTTGATGTGTGGAG 0.468 NA 4 12 0 0 0 0 BAZ1B 9031 broad.mit.edu 37 7 72884760 72884760 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:72884760C>A uc003tyc.2 - 8 2992 c.2647G>T c.(2647-2649)GCT>TCT p.A883S NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 883 Potential. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) GCTTTCTCAGCAGCTGCTTTG 0.428 NA 34 55 3.11e-16 1.41e-15 1 0 TAS2R38 5726 broad.mit.edu 37 7 141673457 141673457 + Silent SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:141673457G>C uc003vwx.1 - 1 117 c.33C>G c.(31-33)TCC>TCG p.S11S NM_176817 NP_789787 P59533 T2R38_HUMAN taste receptor, type 2, member 38 11 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|skin(1) 2 Melanoma(164;0.0171) TGACTTCATAGGACACAGTGC 0.433 NA 19 68 0 0 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144075958 144075958 + Missense_Mutation SNP C C A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:144075958C>A uc003wel.2 + 14 4753 c.4635C>A c.(4633-4635)GAC>GAA p.D1545E ARHGEF5_uc003wem.2_Missense_Mutation_p.D346E NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 1545 SH3. intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) AGAGCAGTGACGGTAAGCGGG 0.493 NA 35 96 6.85e-11 2.91e-10 1 0 NOS3 4846 broad.mit.edu 37 7 150693876 150693876 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr7:150693876C>T uc003wif.2 + 5 741 c.445C>T c.(445-447)CGG>TGG p.R149W NOS3_uc011kuy.1_Intron|NOS3_uc011kuz.1_Missense_Mutation_p.R149W|NOS3_uc011kva.1_Missense_Mutation_p.R149W|NOS3_uc011kvb.1_Missense_Mutation_p.R149W NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 149 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCACGAACAGCGGCTTCAAGA 0.657 NA 5 21 0 0 0 0 ZNF596 169270 broad.mit.edu 37 8 196070 196070 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:196070G>A uc003wot.2 + 6 1511 c.1223G>A c.(1222-1224)CGA>CAA p.R408Q ZNF596_uc003wou.2_Missense_Mutation_p.R307Q|ZNF596_uc003wov.2_Missense_Mutation_p.R408Q|ZNF596_uc003wow.2_Missense_Mutation_p.R408Q NM_173539 NP_775810 Q8TC21 ZN596_HUMAN zinc finger protein 596 408 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) GACCTCAGACGACATGAGAGA 0.438 NA 20 38 0 0 0 0 SDCBP 6386 broad.mit.edu 37 8 59494271 59494271 + Missense_Mutation SNP T T C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:59494271T>C uc003xtn.2 + 9 1019 c.869T>C c.(868-870)CTA>CCA p.L290P SDCBP_uc003xto.2_Missense_Mutation_p.L289P|SDCBP_uc003xtr.2_Missense_Mutation_p.L289P|SDCBP_uc003xtp.2_Missense_Mutation_p.L284P|SDCBP_uc003xtq.2_Missense_Mutation_p.L290P|SDCBP_uc003xts.2_Missense_Mutation_p.L296P|SDCBP_uc011led.1_Missense_Mutation_p.L231P NM_005625 NP_005616 O00560 SDCB1_HUMAN syntenin isoform 1 290 actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding 0 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ATGAAAAGCCTAATGGACCAC 0.388 NA 3 129 0 0 0 0 ARMC1 55156 broad.mit.edu 37 8 66539564 66539564 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:66539564G>C uc003xvl.2 - 2 305 c.70C>G c.(70-72)CTA>GTA p.L24V ARMC1_uc011leo.1_Translation_Start_Site NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN armadillo repeat-containing protein 24 metal ion transport metal ion binding skin(1) 1 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) TCTGCTGCTAGATCCCGTAAC 0.463 NA 32 168 0 0 0 0 SULF1 23213 broad.mit.edu 37 8 70570762 70570762 + Nonsense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:70570762G>T uc010lza.1 + 23 3325 c.2608G>T c.(2608-2610)GAA>TAA p.E870* SULF1_uc003xyd.2_Nonsense_Mutation_p.E870*|SULF1_uc003xye.2_Nonsense_Mutation_p.E870*|SULF1_uc003xyf.2_Nonsense_Mutation_p.E870*|SULF1_uc003xyg.2_Nonsense_Mutation_p.E870*|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_Silent_p.G16G|SULF1_uc003xyj.1_Silent_p.G16G NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 870 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GGATGGATGGGAAGGTTAATC 0.433 NA 40 45 8.05e-23 3.7e-22 1 0 LRRCC1 85444 broad.mit.edu 37 8 86035688 86035688 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:86035688G>A uc003ycw.2 + 7 1125 c.971G>A c.(970-972)AGA>AAA p.R324K LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.R25K|LRRCC1_uc003ycx.2_Missense_Mutation_p.R231K|LRRCC1_uc003ycy.2_Missense_Mutation_p.R304K NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 324 cell division|mitosis centriole|nucleus 0 AAAGACCCCAGACCAAAAAGA 0.308 NA 4 155 0 0 0 0 ESRP1 54845 broad.mit.edu 37 8 95677422 95677423 + Missense_Mutation DNP GT GT TA TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:95677422_95677423GT>TA uc003ygq.3 + 9 1112_1113 c.929_930GT>TA c.(928-930)GGT>GTA p.G310V ESRP1_uc003ygr.3_Missense_Mutation_p.G310V|ESRP1_uc003ygs.3_Missense_Mutation_p.G310V|ESRP1_uc003ygt.3_Missense_Mutation_p.G310V|ESRP1_uc003ygu.3_Missense_Mutation_p.G310V|ESRP1_uc003ygv.2_Missense_Mutation_p.G150V|ESRP1_uc003ygw.2_Missense_Mutation_p.G150V NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 310 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 AAAATTGCTGGTGGTAAGTGCC 0.347 NA 9 26 0 0 0 0 TRPS1 7227 broad.mit.edu 37 8 116631947 116631947 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:116631947G>C uc003ynz.2 - 2 798 c.339C>G c.(337-339)TTC>TTG p.F113L TRPS1_uc011lhy.1_Missense_Mutation_p.F117L|TRPS1_uc003yny.2_Missense_Mutation_p.F126L|TRPS1_uc010mcy.2_Missense_Mutation_p.F113L NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 113 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CTGGAGATGAGAAAGCCAACA 0.527 NA Langer-Giedion_syndrome 28 116 0 0 0 0 RECQL4 9401 broad.mit.edu 37 8 145737407 145737407 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr8:145737407C>T uc003zdj.2 - 20 3312 c.3280G>A c.(3280-3282)GAG>AAG p.E1094K NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 1094 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGCGCTCCTCATCCTGCTGC 0.682 NA N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 5 29 0 0 0 0 TAF1L 138474 broad.mit.edu 37 9 32633291 32633291 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:32633291C>T uc003zrg.1 - 1 2377 c.2287G>A c.(2287-2289)GAG>AAG p.E763K uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 763 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGGTTGTTCTCAAGTGCCTGC 0.433 NA 8 99 0 0 0 0 APBA1 320 broad.mit.edu 37 9 72047505 72047505 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:72047505C>T uc004ahh.2 - 12 2665 c.2389G>A c.(2389-2391)GTG>ATG p.V797M NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 797 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 GGGGTGGCCACGACGCTCTGT 0.607 NA 20 38 0 0 0 0 TMEM2 23670 broad.mit.edu 37 9 74347385 74347385 + Missense_Mutation SNP C C T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:74347385C>T uc011lsa.1 - 7 1985 c.1445G>A c.(1444-1446)AGA>AAA p.R482K TMEM2_uc010mos.2_Missense_Mutation_p.R419K|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 482 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AACCTCAGCTCTCATGTCTAC 0.408 NA 5 38 0 0 0 0 ANKS6 203286 broad.mit.edu 37 9 101552849 101552849 + Silent SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:101552849G>A uc004ayu.2 - 2 420 c.399C>T c.(397-399)CAC>CAT p.H133H ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 133 ANK 3. ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) CATCAGCCCCGTGATCCAACA 0.597 NA 11 29 0 0 0 0 ALG2 85365 broad.mit.edu 37 9 101980890 101980890 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:101980890G>C uc004azf.2 - 2 647 c.577C>G c.(577-579)CAC>GAC p.H193D ALG2_uc004azg.2_Missense_Mutation_p.H100D NM_033087 NP_149078 Q9H553 ALG2_HUMAN alpha-1,3-mannosyltransferase ALG2 193 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding p.H193P(1) ovary(2) 2 Acute lymphoblastic leukemia(62;0.0559) GGGTCTATGTGAGACAGGGAC 0.453 NA 13 97 0 0 0 0 AMBP 259 broad.mit.edu 37 9 116840403 116840403 + Missense_Mutation SNP G G C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:116840403G>C uc004bie.3 - 1 350 c.87C>G c.(85-87)ATC>ATG p.I29M AMBP_uc011lxk.1_5'Flank|AMBP_uc010mvc.1_RNA NM_001633 NP_001624 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin preproprotein 29 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity skin(1) 1 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CCTGCACTTGGATGTTGTCGG 0.637 NA 14 105 0 0 0 0 OR1N2 138882 broad.mit.edu 37 9 125316206 125316206 + Missense_Mutation SNP A A C TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:125316206A>C uc011lyx.1 + 1 758 c.758A>C c.(757-759)AAG>ACG p.K253T NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 253 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 GGGAGATGGAAGGCCTTCTCT 0.498 NA 54 125 0 0 0 0 FAM129B 64855 broad.mit.edu 37 9 130269539 130269539 + Missense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:130269539G>A uc004brh.2 - 14 2028 c.1826C>T c.(1825-1827)TCA>TTA p.S609L FAM129B_uc004bri.2_Missense_Mutation_p.S596L|FAM129B_uc004brj.3_3'UTR NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 609 protein binding 0 GAGGGTGGCTGACTCCGGGGT 0.697 NA 5 52 0 0 0 0 FPGS 2356 broad.mit.edu 37 9 130572339 130572339 + Missense_Mutation SNP A A G TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr9:130572339A>G uc004bsg.1 + 13 1291 c.1241A>G c.(1240-1242)AAT>AGT p.N414S FPGS_uc004bsh.1_Missense_Mutation_p.N231S|FPGS_uc011mal.1_Missense_Mutation_p.N388S|FPGS_uc004bsi.1_Missense_Mutation_p.N364S NM_004957 NP_004948 Q05932 FOLC_HUMAN folylpolyglutamate synthase isoform a precursor 414 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity 0 L-Glutamic Acid(DB00142) TTGCTCTTCAATGCTACCGGG 0.637 NA 8 22 0 0 0 0 BCOR 54880 broad.mit.edu 37 X 39932420 39932420 + Missense_Mutation SNP G G T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chrX:39932420G>T uc004den.3 - 4 2471 c.2179C>A c.(2179-2181)CCC>ACC p.P727T BCOR_uc004dep.3_Missense_Mutation_p.P727T|BCOR_uc004deo.3_Missense_Mutation_p.P727T|BCOR_uc004dem.3_Missense_Mutation_p.P727T|BCOR_uc004deq.3_Missense_Mutation_p.P727T NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 727 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 ATCAACATGGGATGCACCATG 0.582 NA 30 56 6.39e-12 2.76e-11 1 0 DGKK 139189 broad.mit.edu 37 X 50119800 50119800 + Nonsense_Mutation SNP G G A TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chrX:50119800G>A uc010njr.1 - 24 3289 c.3229C>T c.(3229-3231)CAG>TAG p.Q1077* NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 1077 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TGCTGCATCTGGGCATACTCC 0.502 NA 8 10 0 0 0 0 EPHA2 1969 broad.mit.edu 37 1 16475417 16475418 + Frame_Shift_Ins INS - - CGCT TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:16475417_16475418insCGCT uc001aya.1 - 3 415_416 c.278_279insAGCG c.(277-279)CGTfs p.R93fs EPHA2_uc010oca.1_Frame_Shift_Ins_p.R93fs NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 93 Extracellular (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CAATGAAGATACGCTCAGCCTC 0.545 NA 37 56 --- --- --- --- NA NA NA NA KIAA1522 57648 broad.mit.edu 37 1 33237578 33237578 + Frame_Shift_Del DEL C C - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:33237578delC uc001bvv.2 + 6 2757 c.2621delC c.(2620-2622)GCGfs p.A874fs KIAA1522_uc001bvu.1_Frame_Shift_Del_p.A933fs|KIAA1522_uc010ohm.1_Frame_Shift_Del_p.A885fs|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 874 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CTCCATGCTGCGGTCCGACTC 0.706 NA 8 21 --- --- --- --- NA NA NA NA ZMYM1 79830 broad.mit.edu 37 1 35578796 35578798 + In_Frame_Del DEL TAT TAT - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr1:35578796_35578798delTAT uc001bym.2 + 11 1513_1515 c.1365_1367delTAT c.(1363-1368)AGTATT>AGT p.I456del ZMYM1_uc001byn.2_In_Frame_Del_p.I456del|ZMYM1_uc010ohu.1_In_Frame_Del_p.I437del|ZMYM1_uc001byo.2_In_Frame_Del_p.I96del|ZMYM1_uc009vut.2_In_Frame_Del_p.I381del NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 456 TTF-type. nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AATCACGAAGTATTAAAAAATCT 0.3 NA 19 31 --- --- --- --- NA NA NA NA TAS2R7 50837 broad.mit.edu 37 12 10954441 10954443 + In_Frame_Del DEL GAG GAG - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr12:10954441_10954443delGAG uc001qyv.2 - 1 784_786 c.727_729delCTC c.(727-729)CTCdel p.L243del NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 243 Helical; Name=6; (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 AGGCAATAAAGAGGAGAAGGAAG 0.483 NA 10 61 --- --- --- --- NA NA NA NA PAPD5 64282 broad.mit.edu 37 16 50259097 50259097 + Frame_Shift_Del DEL T T - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr16:50259097delT uc010vgo.1 + 11 1691 c.1656delT c.(1654-1656)TGTfs p.C552fs PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Intron|PAPD5_uc002ega.2_Frame_Shift_Del_p.C343fs 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) TTGGAAAATGTAGAAGTAAAA 0.393 NA 11 26 --- --- --- --- NA NA NA NA FOSL2 2355 broad.mit.edu 37 2 28634924 28634925 + Frame_Shift_Ins INS - - GC TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:28634924_28634925insGC uc002rma.2 + 4 1399_1400 c.590_591insGC c.(589-591)GAGfs p.E197fs FOSL2_uc010ymi.1_Frame_Shift_Ins_p.E158fs NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 197 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) AGCCCCGAGGAGCGCCGATCGC 0.639 NA 29 70 --- --- --- --- NA NA NA NA KCNJ3 3760 broad.mit.edu 37 2 155711297 155711297 + Frame_Shift_Del DEL T T - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr2:155711297delT uc002tyv.1 + 3 1173 c.978delT c.(976-978)CGTfs p.R326fs KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 326 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) GGGGTCATCGTTTTTTTCCTG 0.383 NA 20 57 --- --- --- --- NA NA NA NA HYAL2 8692 broad.mit.edu 37 3 50356381 50356389 + Splice_Site DEL GCTTACCGT GCTTACCGT - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr3:50356381_50356389delGCTTACCGT uc003czu.2 - 3 1231 c.1011_splice c.e3+1 p.T337_splice HYAL2_uc003czx.2_Splice_Site_p.T337_splice|HYAL2_uc003czv.2_Splice_Site_p.T337_splice|HYAL2_uc003czw.2_Splice_Site_p.T337_splice|HYAL2_uc010hlj.2_In_Frame_Del_p.TVS337del NM_033158 NP_149348 Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 precursor anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) GCTGGGTCTCGCTTACCGTGCTTGTGGTG 0.584 NA 9 43 --- --- --- --- NA NA NA NA CDH9 1007 broad.mit.edu 37 5 26881690 26881690 + Frame_Shift_Del DEL T T - TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f429401-f71e-4908-9663-2e66bacbebdd b0f2c7dd-277a-4b14-af9d-0d07c789508a g.chr5:26881690delT uc003jgs.1 - 12 2094 c.1925delA c.(1924-1926)AAGfs p.K642fs CDH9_uc011cnv.1_Frame_Shift_Del_p.K235fs NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 642 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CAGAGGTTCCTTTTTTCTTTG 0.398 NA 8 156 --- --- --- --- NA NA NA NA