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 MTF1 4520 broad.mit.edu 37 1 38297931 38297931 + Missense_Mutation SNP C G G TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr1:38297931C>G uc001cce.1 - 7 1195 c.1054G>C c.(1054-1056)GAA>CAA p.E352Q MTF1_uc009vvj.1_Missense_Mutation_p.E43Q NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 352 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTGGAATTTTCTCGCAATTCA 0.393 BSND 7809 broad.mit.edu 37 1 55470704 55470704 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr1:55470704G>A uc001cye.2 + 2 430 c.187G>A c.(187-189)GTC>ATC p.V63I NM_057176 NP_476517 Q8WZ55 BSND_HUMAN barttin 63 Cytoplasmic (Potential). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex ovary(1)|skin(1) 2 GATCACCTTCGTCCCTGCTGA 0.582 HFM1 164045 broad.mit.edu 37 1 91840986 91840986 + Silent SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr1:91840986C>T uc001doa.3 - 13 1714 c.1614G>A c.(1612-1614)AAG>AAA p.K538K HFM1_uc010osu.1_Silent_p.K217K|HFM1_uc010osv.1_Silent_p.K222K NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 538 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GTTGCACACCCTTCCTTGTTG 0.308 TCHH 7062 broad.mit.edu 37 1 152083402 152083402 + Missense_Mutation SNP C G G TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr1:152083402C>G uc001ezp.2 - 2 2291 c.2291G>C c.(2290-2292)CGC>CCC p.R764P TCHH_uc009wne.1_Missense_Mutation_p.R764P NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 764 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAAGTCCCGGCGCTGCTCCTC 0.682 NCF2 4688 broad.mit.edu 37 1 183546838 183546838 + Missense_Mutation SNP C A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr1:183546838C>A uc001gqj.3 - 3 537 c.262G>T c.(262-264)GAT>TAT p.D88Y NCF2_uc010pod.1_Missense_Mutation_p.D88Y|NCF2_uc010poe.1_Missense_Mutation_p.D88Y|NCF2_uc001gqk.3_Missense_Mutation_p.D88Y NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 88 TPR 2. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 ATAGCCAAATCATATCTGCAG 0.443 OBSCN 84033 broad.mit.edu 37 1 228505193 228505193 + Missense_Mutation SNP G T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr1:228505193G>T uc009xez.1 + 52 13634 c.13590G>T c.(13588-13590)GAG>GAT p.E4530D OBSCN_uc001hsn.2_Missense_Mutation_p.E4530D NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4530 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGGATGCTGAGGTGGTGGCTC 0.647 CAMK1D 57118 broad.mit.edu 37 10 12802954 12802954 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr10:12802954G>A uc001ilo.2 + 4 542 c.307G>A c.(307-309)GGT>AGT p.G103S CAMK1D_uc001iln.2_Missense_Mutation_p.G103S NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 103 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) CAGGGTGTCCGGTGGAGAGCT 0.443 C10orf76 79591 broad.mit.edu 37 10 103716424 103716424 + Frame_Shift_Del DEL G - - TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr10:103716424delG uc009xwy.1 - 22 1737 c.1635delC c.(1633-1635)CCCfs p.P545fs C10orf76_uc009xwx.1_RNA NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 545 integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) CATAGCTGCTGGGGGTTGGCA 0.408 OR52M1 119772 broad.mit.edu 37 11 4566796 4566796 + Missense_Mutation SNP G A A rs61751910 byFrequency TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr11:4566796G>A uc010qyf.1 + 1 376 c.376G>A c.(376-378)GTG>ATG p.V126M NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGATCGCTACGTGGCCATCTG 0.527 GLYAT 10249 broad.mit.edu 37 11 58478160 58478160 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr11:58478160G>A uc001nnb.2 - 5 546 c.391C>T c.(391-393)CGC>TGC p.R131C GLYAT_uc001nnc.2_Missense_Mutation_p.R131C NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 131 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TAGAGAATGCGTTGTGTTTGT 0.428 GPR83 10888 broad.mit.edu 37 11 94113665 94113665 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr11:94113665G>A uc001pet.2 - 4 1094 c.922C>T c.(922-924)CTC>TTC p.L308F NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 308 Helical; Name=6; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TAGCAGTTGAGGGGGAACCAG 0.532 MPZL2 10205 broad.mit.edu 37 11 118133277 118133277 + Silent SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr11:118133277G>A uc001psn.2 - 3 453 c.312C>T c.(310-312)TAC>TAT p.Y104Y MPZL2_uc001pso.2_Silent_p.Y104Y|MPZL2_uc001psp.1_Silent_p.Y104Y NM_005797 NP_005788 O60487 MPZL2_HUMAN myelin protein zero-like 2 precursor 104 Extracellular (Potential).|Ig-like V-type. anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane skin(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) TGGAGGCATCGTACCGCTCAG 0.527 FLI1 2313 broad.mit.edu 37 11 128680531 128680531 + Missense_Mutation SNP G T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr11:128680531G>T uc010sbu.1 + 9 1348 c.1007G>T c.(1006-1008)AGC>ATC p.S336I FLI1_uc010sbt.1_Missense_Mutation_p.S143I|FLI1_uc010sbv.1_Missense_Mutation_p.S303I|FLI1_uc009zci.2_Missense_Mutation_p.S270I NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 336 ETS. hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) GACAAGCTGAGCCGGGCCCTC 0.522 T EWSR1 Ewing sarcoma RASSF9 9182 broad.mit.edu 37 12 86199652 86199652 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr12:86199652G>A uc001taf.1 - 2 475 c.136C>T c.(136-138)CGC>TGC p.R46C NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 46 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 GAGGTGGTGCGTTTAGTCAGC 0.453 DCLK1 9201 broad.mit.edu 37 13 36700120 36700120 + Missense_Mutation SNP G T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr13:36700120G>T uc001uvf.2 - 2 388 c.155C>A c.(154-156)TCC>TAC p.S52Y NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 52 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CTTCTTCTCGGAGCTGAGCGT 0.582 SLITRK5 26050 broad.mit.edu 37 13 88329407 88329407 + Silent SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr13:88329407C>T uc001vln.2 + 2 1983 c.1764C>T c.(1762-1764)GAC>GAT p.D588D SLITRK5_uc010tic.1_Silent_p.D347D NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 588 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TCCTAGTGGACGAGGTGATCT 0.512 CLYBL 171425 broad.mit.edu 37 13 100515267 100515267 + Missense_Mutation SNP A G G TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr13:100515267A>G uc001vok.2 + 4 475 c.461A>G c.(460-462)CAC>CGC p.H154R CLYBL_uc010tix.1_Missense_Mutation_p.H154R|CLYBL_uc010tiy.1_Intron NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN citrate lyase beta like precursor 154 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTTTCATTCCACTTAAAAGGC 0.358 GOLGA6L6 727832 broad.mit.edu 37 15 20743796 20743796 + Silent SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr15:20743796C>T uc001ytk.2 - 4 499 c.408G>A c.(406-408)ACG>ACA p.T136T NM_001145004 NP_001138476 A8MZA4 GG6L6_HUMAN golgi autoantigen, golgin subfamily a, 6-like 6 136 Potential. 0 TTTTCTGACACGTAAGGATTC 0.493 TEKT5 146279 broad.mit.edu 37 16 10783110 10783110 + Missense_Mutation SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr16:10783110C>T uc002czz.1 - 3 791 c.719G>A c.(718-720)CGG>CAG p.R240Q NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 240 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 AAGCCCTTACCGCATCTGGAT 0.413 NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT - - TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr17:27620990_27620992delGCT uc002hdy.3 - 1 175_177 c.86_88delAGC c.(85-90)CAGCCG>CCG p.Q29del NUFIP2_uc002hdx.3_In_Frame_Del_p.Q29del NM_020772 NP_065823 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding skin(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.251 RECQL5 9400 broad.mit.edu 37 17 73625102 73625102 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr17:73625102G>A uc010dgl.2 - 16 2557 c.2401C>T c.(2401-2403)CCA>TCA p.P801S RECQL5_uc010dgk.2_Missense_Mutation_p.P774S|RECQL5_uc002jot.3_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 801 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TACTTCTCTGGGGCCATCGGG 0.647 Other_identified_genes_with_known_or_suspected_DNA_repair_function TNFRSF11A 8792 broad.mit.edu 37 18 60036664 60036664 + Missense_Mutation SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr18:60036664C>T uc002lin.2 + 9 1552 c.1514C>T c.(1513-1515)GCG>GTG p.A505V TNFRSF11A_uc010dpv.2_Intron NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 505 Cytoplasmic (Potential). adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) CCAAGCTCAGCGAGGGCAGGT 0.632 Paget_Disease_of_Bone CREB3L3 84699 broad.mit.edu 37 19 4171806 4171806 + Missense_Mutation SNP C T T rs148141076 TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr19:4171806C>T uc002lzl.2 + 10 1342 c.1226C>T c.(1225-1227)GCG>GTG p.A409V CREB3L3_uc002lzm.2_Missense_Mutation_p.A399V|CREB3L3_uc010xib.1_Missense_Mutation_p.A398V|CREB3L3_uc010xic.1_3'UTR NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 409 Lumenal (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGACACCGCGAACCTGACC 0.677 LILRA6 79168 broad.mit.edu 37 19 54744788 54744788 + Missense_Mutation SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr19:54744788C>T uc002qeu.1 - 5 998 c.874G>A c.(874-876)GGC>AGC p.G292S LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.G292S|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.G292S|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.G292S|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G292S|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.G292S|LILRA6_uc010yeq.1_Missense_Mutation_p.G292S|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.G153S NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 292 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGTACTGGCCCCCGTGGGAG 0.682 EPT1 85465 broad.mit.edu 37 2 26596336 26596336 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr2:26596336G>A uc010ykz.1 + 5 559 c.412G>A c.(412-414)GTG>ATG p.V138M EPT1_uc010eyl.1_RNA NM_033505 NP_277040 Q9C0D9 EPT1_HUMAN selenoprotein I 138 Helical; (Potential). phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding 0 TTACTTTGTTGTGACTGTTTA 0.433 TTN 7273 broad.mit.edu 37 2 179432795 179432795 + Missense_Mutation SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr2:179432795C>T uc010zfg.1 - 275 70584 c.70360G>A c.(70360-70362)GTC>ATC p.V23454I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17149I|TTN_uc010zfi.1_Missense_Mutation_p.V17082I|TTN_uc010zfj.1_Missense_Mutation_p.V16957I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24381 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) TAACCTATGACGGGGCTTCCA 0.443 ADNP 23394 broad.mit.edu 37 20 49508976 49508976 + Missense_Mutation SNP G T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr20:49508976G>T uc002xvt.1 - 5 2620 c.2275C>A c.(2275-2277)CAT>AAT p.H759N ADNP_uc002xvu.1_Missense_Mutation_p.H759N NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 759 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TCATCTTCATGACCCTTGGGG 0.418 ATP9A 10079 broad.mit.edu 37 20 50313988 50313988 + Missense_Mutation SNP A G G TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr20:50313988A>G uc002xwg.1 - 5 470 c.470T>C c.(469-471)GTT>GCT p.V157A ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 157 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 AAGGTCTCCAACTTGGATGTT 0.418 RCAN1 1827 broad.mit.edu 37 21 35890504 35890504 + Missense_Mutation SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr21:35890504C>T uc002yue.2 - 4 709 c.637G>A c.(637-639)GTC>ATC p.V213I RCAN1_uc002yuc.2_Missense_Mutation_p.V132I|RCAN1_uc002yud.2_Missense_Mutation_p.V78I|RCAN1_uc002yub.2_Missense_Mutation_p.V158I NM_004414 NP_004405 P53805 RCAN1_HUMAN calcipressin 1 isoform a 213 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 CATACATGGACCACCACGCTG 0.493 ZDHHC8 29801 broad.mit.edu 37 22 20131184 20131184 + Silent SNP C T T rs34918643 TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr22:20131184C>T uc002zrq.2 + 10 2137 c.2031C>T c.(2029-2031)CCC>CCT p.P677P ZDHHC8_uc002zrr.1_Silent_p.P677P|ZDHHC8_uc010gsa.2_Silent_p.P483P NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 677 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) CCTCCCCGCCCGGCACTCCCC 0.716 OXSR1 9943 broad.mit.edu 37 3 38266149 38266149 + Missense_Mutation SNP T C C TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr3:38266149T>C uc003chy.2 + 8 1132 c.790T>C c.(790-792)TTT>CTT p.F264L OXSR1_uc010hhb.2_Missense_Mutation_p.F198L|OXSR1_uc010hha.1_Missense_Mutation_p.F196L NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 264 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TGGAAAATCATTTAGAAAAAT 0.313 TRAK1 22906 broad.mit.edu 37 3 42242442 42242442 + Silent SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr3:42242442C>T uc003cky.2 + 12 1539 c.1323C>T c.(1321-1323)TGC>TGT p.C441C TRAK1_uc011azh.1_Silent_p.C441C|TRAK1_uc011azi.1_Silent_p.C441C|TRAK1_uc003ckz.3_Silent_p.C367C|TRAK1_uc011azj.1_Silent_p.C367C|TRAK1_uc003cla.2_Silent_p.C383C NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 441 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 TGTCCAGCTGCGTCAGCACCC 0.582 CASR 846 broad.mit.edu 37 3 122003250 122003250 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr3:122003250G>A uc003eev.3 + 7 2821 c.2449G>A c.(2449-2451)GTC>ATC p.V817I CASR_uc003eew.3_Missense_Mutation_p.V827I NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 817 Helical; Name=6; (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTTCTTCATCGTCTGGATCTC 0.527 COL6A6 131873 broad.mit.edu 37 3 130313143 130313143 + Missense_Mutation SNP G C C TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr3:130313143G>C uc010htl.2 + 17 4520 c.4489G>C c.(4489-4491)GGG>CGG p.G1497R COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1497 Triple-helical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AGGGAAGAGAGGGACTCCTGG 0.463 TP63 8626 broad.mit.edu 37 3 189587160 189587160 + Nonsense_Mutation SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr3:189587160C>T uc003fry.2 + 9 1266 c.1177C>T c.(1177-1179)CGA>TGA p.R393* TP63_uc003frx.2_Nonsense_Mutation_p.R393*|TP63_uc003frz.2_Nonsense_Mutation_p.R393*|TP63_uc010hzc.1_Nonsense_Mutation_p.R393*|TP63_uc003fsa.2_Nonsense_Mutation_p.R299*|TP63_uc003fsb.2_Nonsense_Mutation_p.R299*|TP63_uc003fsc.2_Nonsense_Mutation_p.R299*|TP63_uc003fsd.2_Nonsense_Mutation_p.R299*|TP63_uc010hzd.1_Nonsense_Mutation_p.R214*|TP63_uc003fse.1_Nonsense_Mutation_p.R270* NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 393 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CATCAAGAAACGAAGATCCCC 0.413 Hay-Wells_syndrome HNSCC(45;0.13) FYTTD1 84248 broad.mit.edu 37 3 197497100 197497100 + Missense_Mutation SNP G T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr3:197497100G>T uc003fyi.2 + 4 701 c.482G>T c.(481-483)AGC>ATC p.S161I FYTTD1_uc011bui.1_Missense_Mutation_p.S135I|FYTTD1_uc011buj.1_Intron|FYTTD1_uc011buk.1_Missense_Mutation_p.S94I NM_032288 NP_115664 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 isoform 1 161 mRNA export from nucleus nuclear speck mRNA binding|protein binding 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) AAGAGACCTAGCCAGCTAAGC 0.363 EGF 1950 broad.mit.edu 37 4 110895931 110895931 + Missense_Mutation SNP A T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr4:110895931A>T uc003hzy.3 + 12 2249 c.1797A>T c.(1795-1797)CAA>CAT p.Q599H EGF_uc011cfu.1_Missense_Mutation_p.Q557H|EGF_uc011cfv.1_Missense_Mutation_p.Q599H NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 599 LDL-receptor class B 7.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ACATCTCTCAACCACGAGGAA 0.388 C6 729 broad.mit.edu 37 5 41196027 41196027 + Missense_Mutation SNP T C C TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr5:41196027T>C uc003jmk.2 - 5 664 c.454A>G c.(454-456)ATT>GTT p.I152V C6_uc003jml.1_Missense_Mutation_p.I152V NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 152 LDL-receptor class A. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTTCTGGCAATGCAGCGGCCT 0.358 C5orf34 375444 broad.mit.edu 37 5 43487196 43487196 + Missense_Mutation SNP C A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr5:43487196C>A uc003jnz.1 - 14 2055 c.1738G>T c.(1738-1740)GGT>TGT p.G580C NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 580 breast(1) 1 Lung NSC(6;2.07e-05) TTTAGGATACCACTATTTTCT 0.313 FGFR4 2264 broad.mit.edu 37 5 176519769 176519769 + Nonsense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr5:176519769G>A uc003mfl.2 + 8 1208 c.1041G>A c.(1039-1041)TGG>TGA p.W347* FGFR4_uc003mfm.2_Nonsense_Mutation_p.W347*|FGFR4_uc011dfu.1_Nonsense_Mutation_p.W347*|FGFR4_uc011dfw.1_Nonsense_Mutation_p.W347*|FGFR4_uc003mfo.2_Nonsense_Mutation_p.W347* NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 347 Extracellular (Potential).|Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) AGTCTGCCTGGCTCACGGTGC 0.647 TSP Lung(9;0.080) TMEM217 221468 broad.mit.edu 37 6 37186701 37186701 + Missense_Mutation SNP G T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr6:37186701G>T uc003onl.2 - 2 187 c.106C>A c.(106-108)CAC>AAC p.H36N TMEM217_uc010jwr.2_Missense_Mutation_p.H36N|TMEM217_uc010jws.2_Intron|TMEM217_uc003onm.3_Missense_Mutation_p.H36N NM_145316 NP_660359 Q8N7C4 TM217_HUMAN transmembrane protein 217 isoform 1 36 integral to membrane 0 TTCCCTAGGTGCTTCTGTTCA 0.468 DNAH8 1769 broad.mit.edu 37 6 38830180 38830180 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr6:38830180G>A uc003ooe.1 + 42 6205 c.5605G>A c.(5605-5607)GTG>ATG p.V1869M 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 ATATGTGGTCGTGTTCAATTG 0.418 LRFN2 57497 broad.mit.edu 37 6 40400626 40400626 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr6:40400626G>A uc003oph.1 - 2 692 c.227C>T c.(226-228)ACG>ATG p.T76M NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 76 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) CACCAGCCCCGTCATGTTGGC 0.597 NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA - - TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr6:155743925_155743926delCA uc003qqm.2 - 10 1313_1314 c.1210_1211delTG c.(1210-1212)TGCfs p.C404fs NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 Helical; (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 TBP 6908 broad.mit.edu 37 6 170880497 170880497 + Splice_Site SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr6:170880497G>A uc003qxt.2 + 7 1078 c.846_splice c.e7-1 p.S282_splice TBP_uc003qxu.2_Splice_Site_p.S282_splice|TBP_uc011ehf.1_Splice_Site_p.S262_splice NM_003194 NP_003185 P20226 TBP_HUMAN TATA box binding protein cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) TTTCCTTCTAGTTATGAGCCA 0.318 TECPR1 25851 broad.mit.edu 37 7 97862242 97862242 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr7:97862242G>A uc003upg.2 - 12 1920 c.1715C>T c.(1714-1716)CCG>CTG p.P572L TECPR1_uc003uph.1_Missense_Mutation_p.P502L NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 572 integral to membrane protein binding pancreas(1) 1 GGTCTGGGCCGGCGTGATGGA 0.652 CYP3A5 1577 broad.mit.edu 37 7 99264589 99264589 + Missense_Mutation SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr7:99264589C>T uc003urq.2 - 5 505 c.418G>A c.(418-420)GGA>AGA p.G140R ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_5'UTR|CYP3A5_uc003urr.2_Missense_Mutation_p.G27R|CYP3A5_uc011kiy.1_Missense_Mutation_p.G130R|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 140 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) TTGAGTTTTCCGCTGGTGAAG 0.413 KIAA1147 57189 broad.mit.edu 37 7 141365018 141365018 + Missense_Mutation SNP C G G TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr7:141365018C>G uc003vwk.2 - 6 921 c.921G>C c.(919-921)GAG>GAC p.E307D NM_001080392 NP_001073861 A4D1U4 LCHN_HUMAN hypothetical protein LOC57189 307 ovary(1) 1 Melanoma(164;0.0171) CCTCCAGGCTCTCGATGTCAG 0.602 ARHGEF5 7984 broad.mit.edu 37 7 144060770 144060770 + Silent SNP T C C rs141931104 by1000genomes TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr7:144060770T>C uc003wel.2 + 2 1126 c.1008T>C c.(1006-1008)AAT>AAC p.N336N ARHGEF5_uc003wek.2_Silent_p.N336N NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 336 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) CAGAAGAGAATAGGGCGGACT 0.512 NOS3 4846 broad.mit.edu 37 7 150695737 150695737 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr7:150695737G>A uc003wif.2 + 7 1081 c.785G>A c.(784-786)CGG>CAG p.R262Q NOS3_uc011kuy.1_Missense_Mutation_p.R56Q|NOS3_uc011kuz.1_Missense_Mutation_p.R262Q|NOS3_uc011kva.1_Missense_Mutation_p.R262Q|NOS3_uc011kvb.1_Missense_Mutation_p.R262Q NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 262 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) GGCTCTGTGCGGGGGGACCCA 0.652 IMPAD1 54928 broad.mit.edu 37 8 57905955 57905955 + Missense_Mutation SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr8:57905955G>A uc003xte.3 - 1 473 c.190C>T c.(190-192)CGC>TGC p.R64C NM_017813 NP_060283 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 64 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding ovary(1) 1 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) AGCATCTCGCGCAAGTCCACG 0.572 TPD52 7163 broad.mit.edu 37 8 80954870 80954870 + Silent SNP C T T TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr8:80954870C>T uc003ybr.1 - 5 862 c.540G>A c.(538-540)AAG>AAA p.K180K TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Silent_p.K163K|TPD52_uc003ybt.1_Silent_p.K140K|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA NM_001025252 NP_001020423 P55327 TPD52_HUMAN tumor protein D52 isoform 1 180 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity ovary(1) 1 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) AGTTTTCGACCTTTTCTTCAA 0.308 FBP1 2203 broad.mit.edu 37 9 97401548 97401548 + Silent SNP G C C TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr9:97401548G>C uc004auw.3 - 1 376 c.45C>G c.(43-45)ACC>ACG p.T15T FBP1_uc010mrl.2_Silent_p.T15T NM_000507 NP_000498 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 15 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) TGACGAAGCGGGTCAGGGTGT 0.667 TRAF2 7186 broad.mit.edu 37 9 139818449 139818449 + Silent SNP G A A TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chr9:139818449G>A uc010nbu.2 + 11 1457 c.1284G>A c.(1282-1284)CAG>CAA p.Q428Q TRAF2_uc004cjv.2_Silent_p.Q428Q|TRAF2_uc011mek.1_Silent_p.Q417Q|TRAF2_uc010nbw.2_Silent_p.Q403Q NM_021138 NP_066961 Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 428 MATH. activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) CCTTCAACCAGAAGGTGAGGC 0.647 PCDH19 57526 broad.mit.edu 37 X 99663560 99663562 + In_Frame_Del DEL CAG - - TCGA-19-5960-01A-11D-1696-08 TCGA-19-5960-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b8151614-b08f-49a3-ab6f-2e780f765a17 6550b1a6-606e-478b-8332-3836c47a6b84 g.chrX:99663560_99663562delCAG uc010nmz.2 - 1 1710_1712 c.34_36delCTG c.(34-36)CTGdel p.L12del PCDH19_uc004efw.3_In_Frame_Del_p.L12del|PCDH19_uc004efx.3_In_Frame_Del_p.L12del NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 12 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 ACAGTATGGCCAGCAGCAGCAGC 0.665