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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample CLCN6 1185 broad.mit.edu 37 1 11867207 11867207 + Missense_Mutation SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:11867207A>G uc001ate.3 + 2 220 c.107A>G c.(106-108)CAG>CGG p.Q36R MTHFR_uc001atc.1_5'Flank|MTHFR_uc001atd.1_5'Flank|MTHFR_uc009vnd.1_5'Flank|CLCN6_uc009vne.1_Missense_Mutation_p.Q36R|CLCN6_uc009vnf.1_Missense_Mutation_p.Q36R|CLCN6_uc009vng.1_Missense_Mutation_p.Q36R|CLCN6_uc009vnh.1_Missense_Mutation_p.Q36R|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Missense_Mutation_p.Q36R NM_001286 NP_001277 P51797 CLCN6_HUMAN chloride channel 6 isoform ClC-6a 36 Cytoplasmic (By similarity). cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GGAGAAACACAGGAGGAGGAG 0.473 NaN 0 0 0 0.010818 0 23 14 ARID1A 8289 broad.mit.edu 37 1 27100375 27100375 + Nonsense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:27100375C>T uc001bmv.1 + 17 4460 c.4087C>T c.(4087-4089)CAA>TAA p.Q1363* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1362*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1363*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q980*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q209*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1363 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TACAATGTATCAACAGCAACA 0.488 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.01441 0 121 96 ROR1 4919 broad.mit.edu 37 1 64643579 64643579 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:64643579C>T uc001dbj.2 + 9 2254 c.1855C>T c.(1855-1857)CGC>TGC p.R619C uc001dbm.2_5'Flank NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 619 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 CCTTGCAGCTCGCAATATTTT 0.453 NaN 0 0 0 0.016723 0 13 28 ST6GALNAC5 81849 broad.mit.edu 37 1 77510286 77510286 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:77510286C>A uc001dhi.2 + 3 834 c.659C>A c.(658-660)ACT>AAT p.T220N ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 220 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 AAGCAGGAGACTGGCAAAGAC 0.527 NaN 1 0 5.35356e-11 0.016522 5.80548e-11 20 216 IFI44 10561 broad.mit.edu 37 1 79115948 79115948 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:79115948G>A uc001dip.3 + 2 192 c.68G>A c.(67-69)CGG>CAG p.R23Q IFI44_uc010orr.1_Missense_Mutation_p.R23Q|IFI44_uc010ors.1_Intron NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN interferon-induced, hepatitis C-associated 23 response to virus cytoplasm ovary(1)|central_nervous_system(1) 2 GGAGGGAAGCGGCTTAGCCTT 0.403 NaN 0 0 0 0.012319 0 19 55 DPYD 1806 broad.mit.edu 37 1 98187182 98187182 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:98187182C>A uc001drv.2 - 5 504 c.367G>T c.(367-369)GGT>TGT p.G123C DPYD_uc010oub.1_RNA|DPYD_uc001drw.2_Missense_Mutation_p.G123C NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 123 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAAGTCAGACCAAGTGGGTTG 0.348 NaN 1 0 4.34086e-07 0.023175 4.58813e-07 32 51 DENND4B 9909 broad.mit.edu 37 1 153915377 153915377 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:153915377G>A uc001fdd.1 - 3 948 c.547C>T c.(547-549)CCC>TCC p.P183S NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 183 MABP. 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) AGGTTGCGGGGCAGCCGGCAG 0.632 NaN 0 0 0 0.009096 0 3 43 ELF3 1999 broad.mit.edu 37 1 201983142 201983142 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:201983142C>T uc001gxg.3 + 7 4183 c.991C>T c.(991-993)CGG>TGG p.R331W ELF3_uc001gxi.3_Missense_Mutation_p.R331W|ELF3_uc001gxh.3_Missense_Mutation_p.R331W NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 331 ETS. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 GAAGCTGAGCCGGGCCATGAG 0.607 NaN 0 0 0 0.024245 0 13 9 PRSS38 339501 broad.mit.edu 37 1 228005156 228005156 + Silent SNP G G A rs139000968 by1000genomes TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:228005156G>A uc001hrh.2 + 3 558 c.558G>A c.(556-558)ACG>ACA p.T186T NM_183062 NP_898885 A1L453 PRS38_HUMAN marapsin 2 precursor 186 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1)|pancreas(1) 2 GCTGGGCTACGGGATGGGGAC 0.527 NaN 0 0 0 0.020292 0 12 74 LYST 1130 broad.mit.edu 37 1 235922848 235922848 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:235922848C>T uc001hxj.2 - 23 6480 c.6305G>A c.(6304-6306)CGT>CAT p.R2102H LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2102 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GCTTCTAGAACGCAGCATATG 0.378 NaN Chediak-Higashi_syndrome 0 0 0 0.00499 0 14 66 OR2T12 127064 broad.mit.edu 37 1 248458734 248458735 + Missense_Mutation DNP CC CC AA TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:248458734_248458735CC>AA uc010pzj.1 - 1 146_147 c.146_147GG>TT c.(145-147)TGG>TTT p.W49F NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GCCGGTGGTCCCAGTGAATCAG 0.535 NaN 0 0 0 0.004672 0 22 33 C10orf2 56652 broad.mit.edu 37 10 102749592 102749592 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr10:102749592G>C uc001ksf.2 + 2 2110 c.1435G>C c.(1435-1437)GAG>CAG p.E479Q MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.E479Q|C10orf2_uc001ksi.2_Missense_Mutation_p.E25Q|C10orf2_uc010qpv.1_Missense_Mutation_p.E25Q|C10orf2_uc001ksh.2_RNA NM_021830 NP_068602 Q96RR1 PEO1_HUMAN twinkle isoform A 479 SF4 helicase. E -> K (in PEOA3). cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding ovary(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) TGACCGCTTTGAGGACCTGCC 0.532 NaN 0 0 0 0.01441 0 45 144 SFXN4 119559 broad.mit.edu 37 10 120925084 120925084 + Nonsense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr10:120925084C>A uc001leb.2 - 1 121 c.76G>T c.(76-78)GAG>TAG p.E26* SFXN4_uc001ldz.2_5'Flank|SFXN4_uc001lea.2_RNA NM_213649 NP_998814 Q6P4A7 SFXN4_HUMAN sideroflexin 4 26 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) ACGTTGGGCTCAATGAAGGCG 0.433 NaN 1 0 4.3838e-07 0.016723 4.60437e-07 12 26 CDHR5 53841 broad.mit.edu 37 11 617954 617954 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:617954C>T uc001lqj.2 - 14 2223 c.2118G>A c.(2116-2118)CCG>CCA p.P706P IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Silent_p.P512P|CDHR5_uc009ycc.2_Silent_p.P540P|CDHR5_uc009ycd.2_Silent_p.P700P|CDHR5_uc001lql.2_Silent_p.P706P NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 706 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TGGGCCTCACCGGAGCTTTGC 0.672 NaN 0 0 0 0.010729 0 9 12 MRGPRE 116534 broad.mit.edu 37 11 3249921 3249921 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:3249921C>T uc001lxq.3 - 2 416 c.106G>A c.(106-108)GGT>AGT p.G36S NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 36 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCAGCCCACCGAGGCCGAGC 0.652 NaN 0 0 0 0.006214 0 9 76 C11orf16 56673 broad.mit.edu 37 11 8947502 8947502 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:8947502G>A uc001mhb.3 - 5 836 c.712C>T c.(712-714)CAC>TAC p.H238Y C11orf16_uc001mhc.3_Missense_Mutation_p.H238Y NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 238 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GGGGCCCAGTGAAGGGGCCTG 0.607 NaN 0 0 0 0.013537 0 10 88 TIGD3 220359 broad.mit.edu 37 11 65123927 65123927 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:65123927C>T uc001odo.3 + 2 811 c.648C>T c.(646-648)CTC>CTT p.L216L NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 216 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 TGGGTGGGCTCCAGGCTGCCC 0.637 NaN 0 0 0 0.00308 0 8 129 SSH3 54961 broad.mit.edu 37 11 67077777 67077777 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:67077777G>A uc001okj.2 + 13 1828 c.1650G>A c.(1648-1650)CTG>CTA p.L550L SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Silent_p.L404L NM_017857 NP_060327 Q8TE77 SSH3_HUMAN slingshot homolog 3 550 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCTTGGAGCTGGAGAGCACCT 0.622 NaN 0 0 0 0.028581 0 12 72 PRCP 5547 broad.mit.edu 37 11 82611320 82611320 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:82611320G>C uc001ozs.2 - 1 238 c.125C>G c.(124-126)CCG>CGG p.P42R PRCP_uc001ozr.2_Missense_Mutation_p.P42R|C11orf82_uc001ozt.2_5'Flank|C11orf82_uc010rsr.1_5'Flank|C11orf82_uc010rss.1_5'Flank|C11orf82_uc009yvd.2_5'Flank NM_005040 NP_005031 P42785 PCP_HUMAN prolylcarboxypeptidase isoform 1 preproprotein 42 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity skin(1) 1 GGCTACAGCCGGGAGGGATGT 0.637 NaN 0 0 0 0.028581 0 13 85 KBTBD3 143879 broad.mit.edu 37 11 105929784 105929784 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:105929784C>T uc001pja.2 - 3 681 c.41G>A c.(40-42)CGA>CAA p.R14Q KBTBD3_uc001pjb.2_Missense_Mutation_p.R14Q|KBTBD3_uc009yxm.2_Intron NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 10 ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) ACATGTGCTTCGTTGATTGAA 0.328 NaN 0 0 0 0.014758 0 4 35 CHEK1 1111 broad.mit.edu 37 11 125513987 125513987 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:125513987G>A uc009zbo.2 + 10 1817 c.925G>A c.(925-927)GAA>AAA p.E309K CHEK1_uc010sbh.1_Missense_Mutation_p.E325K|CHEK1_uc010sbi.1_Missense_Mutation_p.E309K|CHEK1_uc001qcf.3_Missense_Mutation_p.E309K|CHEK1_uc009zbp.2_Missense_Mutation_p.E309K|CHEK1_uc001qcg.3_Missense_Mutation_p.E309K|CHEK1_uc009zbq.2_Missense_Mutation_p.E309K|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_5'UTR NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 309 cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) ATGCCTCAGTGAAGAAAATGT 0.378 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.007835 0 38 26 VWF 7450 broad.mit.edu 37 12 6105241 6105241 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:6105241G>C uc001qnn.1 - 35 6240 c.5990C>G c.(5989-5991)GCA>GGA p.A1997G VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1997 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GCCCTGCCTTGCTCCAGGGCT 0.522 NaN 0 0 0 0.00499 0 14 24 PRR4 11272 broad.mit.edu 37 12 11000981 11000981 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:11000981G>A uc001qyz.3 - 2 129 c.90C>T c.(88-90)TTC>TTT p.F30F PRR4_uc009zhp.2_Silent_p.F43F|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_RNA|PRR4_uc009zhq.1_RNA NM_007244 NP_009175 Q16378 PROL4_HUMAN proline rich 4 (lacrimal) isoform 2 30 visual perception extracellular space 0 CTGGTATGGTGAAAGTAAAGT 0.358 NaN 0 0 0 0.007413 0 15 15 ATF7IP 55729 broad.mit.edu 37 12 14577646 14577646 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:14577646C>T uc001rbw.2 + 2 955 c.797C>T c.(796-798)TCT>TTT p.S266F ATF7IP_uc010shs.1_Missense_Mutation_p.S266F|ATF7IP_uc001rbu.2_Missense_Mutation_p.S266F|ATF7IP_uc001rbv.1_Missense_Mutation_p.S266F|ATF7IP_uc001rbx.2_Missense_Mutation_p.S266F|ATF7IP_uc010sht.1_Missense_Mutation_p.S266F|ATF7IP_uc001rby.3_Missense_Mutation_p.S266F|ATF7IP_uc001rbz.1_Missense_Mutation_p.S266F|ATF7IP_uc001rca.2_Missense_Mutation_p.S266F|ATF7IP_uc001rcb.2_5'Flank NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 266 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 GAACTGGCCTCTGATGATCTG 0.483 NaN 0 0 0 0.010818 0 29 86 PRPF40B 25766 broad.mit.edu 37 12 50026812 50026812 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:50026812G>A uc001rur.1 + 6 362 c.298G>A c.(298-300)GAG>AAG p.E100K PRPF40B_uc001rup.1_Missense_Mutation_p.E122K|PRPF40B_uc001ruq.1_Missense_Mutation_p.E94K|PRPF40B_uc001rus.1_Missense_Mutation_p.E43K NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 100 WW 1. mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CCTATGGAGTGAGCATGTGGC 0.582 NaN 0 0 0 0.014758 0 4 10 KRT7 3855 broad.mit.edu 37 12 52627328 52627328 + Missense_Mutation SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:52627328C>G uc001saa.1 + 1 375 c.248C>G c.(247-249)TCC>TGC p.S83C KRT7_uc009zmf.1_Missense_Mutation_p.S83C NM_005556 NP_005547 P08729 K2C7_HUMAN keratin 7 83 Head. SL -> FS (in Ref. 3; CAB41416). cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.105) GCCGACCCCTCCCTCCAGCGG 0.677 NaN 0 0 0 0.00499 0 16 64 NAV3 89795 broad.mit.edu 37 12 78360077 78360077 + Silent SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:78360077T>C uc001syp.2 + 4 656 c.483T>C c.(481-483)GCT>GCC p.A161A NAV3_uc001syo.2_Silent_p.A161A NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 161 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GTCTATCTGCTGAAGGTAAGA 0.338 NaN HNSCC(70;0.22) 0 0 0 0.010504 0 18 22 NTS 4922 broad.mit.edu 37 12 86272345 86272345 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:86272345G>A uc001tag.2 + 3 465 c.358G>A c.(358-360)GAG>AAG p.E120K NM_006183 NP_006174 P30990 NEUT_HUMAN neurotensin/neuromedin N preproprotein 120 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity 0 TCAACACTGGGAGGTATAGCA 0.333 NaN 0 0 0 0.00308 0 6 41 GPR109A 338442 broad.mit.edu 37 12 123186957 123186957 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:123186957C>T uc001ucx.1 - 1 948 c.874G>A c.(874-876)GTG>ATG p.V292M GPR81_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN G protein-coupled receptor 109A 292 Helical; Name=7; (Potential). negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) TAGTACACCACGGGGTCCAGC 0.527 NaN 0 0 0 0.021553 0 4 44 KL 9365 broad.mit.edu 37 13 33635874 33635874 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr13:33635874G>A uc001uus.2 + 4 2666 c.2658G>A c.(2656-2658)CTG>CTA p.L886L KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 886 Glycosyl hydrolase-1 2.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) ACGACCAGCTGAGGGTGTATT 0.488 NaN 0 0 0 0.007413 0 18 67 POU4F1 5457 broad.mit.edu 37 13 79175873 79175873 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr13:79175873C>T uc001vkv.2 - 2 1171 c.937G>A c.(937-939)GAG>AAG p.E313K uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 313 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GTGAGCGACTCGAACCTGCAG 0.647 NaN 0 0 0 0.008291 0 6 18 TPP2 7174 broad.mit.edu 37 13 103326724 103326724 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr13:103326724G>A uc001vpi.3 + 27 3527 c.3424G>A c.(3424-3426)GAC>AAC p.D1142N NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 1142 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCAGGCTCAAGACGGAGCCAT 0.478 NaN 0 0 0 0.027356 0 24 39 SLC7A7 9056 broad.mit.edu 37 14 23249162 23249162 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:23249162C>T uc001wgr.3 - 3 736 c.598G>A c.(598-600)GTT>ATT p.V200I SLC7A7_uc001wgs.3_Missense_Mutation_p.V200I|SLC7A7_uc001wgt.3_Missense_Mutation_p.V200I|SLC7A7_uc001wgu.3_Missense_Mutation_p.V200I|SLC7A7_uc001wgv.3_Missense_Mutation_p.V200I NM_003982 NP_003973 Q9UM01 YLAT1_HUMAN solute carrier family 7 member 7 200 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity ovary(1)|breast(1) 2 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) ATGCCTGCAACGATGACCGCG 0.299 NaN 0 0 0 0.016522 0 18 53 MYH6 4624 broad.mit.edu 37 14 23866174 23866174 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:23866174C>A uc001wjv.2 - 18 2233 c.2166G>T c.(2164-2166)CAG>CAT p.Q722H NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 722 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) ATACCCACCTCTGCCGGAAGT 0.627 NaN 1 0 8.88839e-20 0.010818 9.76554e-20 22 60 DDX24 57062 broad.mit.edu 37 14 94527268 94527268 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:94527268C>T uc001ycj.2 - 4 1487 c.1388G>A c.(1387-1389)CGG>CAG p.R463Q DDX24_uc010twq.1_Missense_Mutation_p.R420Q|DDX24_uc010twr.1_Missense_Mutation_p.R213Q NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 463 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|skin(1) 4 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CCTGAGCTGCCGAAGGTTCCT 0.488 NaN 0 0 0 0.004482 0 7 34 CLMN 79789 broad.mit.edu 37 14 95688091 95688091 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:95688091C>T uc001yef.2 - 4 377 c.261G>A c.(259-261)TCG>TCA p.S87S NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 87 Actin-binding.|CH 1. integral to membrane actin binding 0 Epithelial(152;0.193) TACGATGCGACGAGGATTTGT 0.443 NaN 0 0 0 0.006214 0 8 43 PAPOLA 10914 broad.mit.edu 37 14 97003321 97003321 + Missense_Mutation SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:97003321A>G uc001yfq.2 + 12 1249 c.1039A>G c.(1039-1041)ATC>GTC p.I347V PAPOLA_uc001yfr.2_Missense_Mutation_p.I347V|PAPOLA_uc010twv.1_Missense_Mutation_p.I347V|PAPOLA_uc010avp.2_Missense_Mutation_p.I97V NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 347 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) AGGTCTTGCTATCACAGATGA 0.308 NaN 0 0 0 0.016723 0 10 24 HSP90AA1 3320 broad.mit.edu 37 14 102549453 102549453 + Missense_Mutation SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:102549453T>C uc001yku.3 - 9 1863 c.1673A>G c.(1672-1674)AAA>AGA p.K558R HSP90AA1_uc001ykv.3_Missense_Mutation_p.K680R|HSP90AA1_uc001ykw.1_Missense_Mutation_p.K379R|HSP90AA1_uc001ykx.1_Missense_Mutation_p.K547R NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 558 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) ctgcttctttttctcttcttc 0.224 NaN 0 0 0 0.004482 0 9 15 ATP10A 57194 broad.mit.edu 37 15 25947187 25947187 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:25947187C>T uc010ayu.2 - 13 2742 c.2636G>A c.(2635-2637)CGT>CAT p.R879H NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 879 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCCCGCTTGACGCAATTTAGA 0.527 NaN 0 0 0 0.016522 0 22 76 SLC12A1 6557 broad.mit.edu 37 15 48541868 48541868 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:48541868C>A uc001zwn.3 + 14 1997 c.1781C>A c.(1780-1782)TCT>TAT p.S594Y SLC12A1_uc010uew.1_Missense_Mutation_p.S400Y|SLC12A1_uc010bem.2_Missense_Mutation_p.S594Y|SLC12A1_uc001zwq.3_Missense_Mutation_p.S365Y|SLC12A1_uc001zwr.3_Missense_Mutation_p.S321Y NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 594 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TATGCCAAATCTCCAGGTAAG 0.388 NaN 1 0 1.08611e-07 0.010729 1.16269e-07 10 48 CGNL1 84952 broad.mit.edu 37 15 57730261 57730261 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:57730261G>A uc002aeg.2 + 2 140 c.64G>A c.(64-66)GCA>ACA p.A22T CGNL1_uc010bfw.2_Missense_Mutation_p.A22T NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 22 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TCTGAGACTCGCAAGTGATGA 0.493 NaN 0 0 0 0.01441 0 70 179 DPP8 54878 broad.mit.edu 37 15 65756226 65756226 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:65756226G>A uc002aov.2 - 15 3470 c.1892C>T c.(1891-1893)ACT>ATT p.T631I DPP8_uc002aow.2_Missense_Mutation_p.T631I|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.T615I|DPP8_uc002aoy.2_Missense_Mutation_p.T631I|DPP8_uc002aoz.2_Missense_Mutation_p.T615I|DPP8_uc010bhj.2_Missense_Mutation_p.T631I|DPP8_uc002apa.2_Missense_Mutation_p.T528I|DPP8_uc010bhi.2_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.T200I NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 631 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 TTCTGGAGGAGTATAGTCAGG 0.378 NaN 0 0 0 0.007413 0 17 26 PTPN9 5780 broad.mit.edu 37 15 75762295 75762295 + Missense_Mutation SNP G G T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:75762295G>T uc002bal.2 - 12 1913 c.1405C>A c.(1405-1407)CCA>ACA p.P469T NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 469 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 CCATAGTCTGGCCAGCTCAAG 0.507 NaN 1 0 5.01169e-05 0.00499 5.16638e-05 15 48 IREB2 3658 broad.mit.edu 37 15 78790398 78790398 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:78790398C>T uc002bdr.2 + 22 2967 c.2805C>T c.(2803-2805)AGC>AGT p.S935S IREB2_uc010unb.1_Silent_p.S685S NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 935 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) AAGTATTCAGCGTGATTGCTT 0.363 NaN 0 0 0 0.014758 0 5 53 ADAMTS7 11173 broad.mit.edu 37 15 79060507 79060507 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:79060507C>A uc002bej.3 - 17 2824 c.2613G>T c.(2611-2613)CAG>CAT p.Q871H ADAMTS7_uc010und.1_Missense_Mutation_p.Q447H NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 871 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 TGCACTTCCTCTGTTGGTCAT 0.453 NaN 1 0 5.18039e-06 0.00308 5.37345e-06 7 18 CCDC78 124093 broad.mit.edu 37 16 775266 775266 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr16:775266C>T uc002cjg.2 - 5 569 c.463G>A c.(463-465)GAG>AAG p.E155K CCDC78_uc002cjf.2_Missense_Mutation_p.E4K|CCDC78_uc002cji.3_Missense_Mutation_p.E229K|CCDC78_uc002cjj.3_Missense_Mutation_p.E99K|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.E155K|CCDC78_uc002cjk.2_Missense_Mutation_p.E144K|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank NM_001031737 NP_001026907 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 155 central_nervous_system(1) 1 Hepatocellular(780;0.0218) TGCTCATTCTCGGGGTTCATG 0.627 NaN 0 0 0 0.010818 0 22 108 SRRM2 23524 broad.mit.edu 37 16 2818182 2818182 + Silent SNP G G C rs149616150 byFrequency TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr16:2818182G>C uc002crk.2 + 11 8202 c.7653G>C c.(7651-7653)TCG>TCC p.S2551S SRRM2_uc002crj.1_Silent_p.S2455S|SRRM2_uc002crl.1_Silent_p.S2551S|SRRM2_uc010bsu.1_Silent_p.S2455S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2551 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 cgtcgtcgtcgtcctcctcct 0.368 NaN 0 0 0 0.013537 0 11 10 CREBBP 1387 broad.mit.edu 37 16 3779153 3779153 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr16:3779153C>T uc002cvv.2 - 31 6099 c.5895G>A c.(5893-5895)GAG>GAA p.E1965E CREBBP_uc002cvw.2_Silent_p.E1927E NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1965 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCTGCTGGGCCTCACGCTCGA 0.711 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.004672 0 3 6 ABR 29 broad.mit.edu 37 17 1028677 1028677 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:1028677G>A uc002fsd.2 - 2 197 c.87C>T c.(85-87)TAC>TAT p.Y29Y ABR_uc002fse.2_Translation_Start_Site|ABR_uc010cjq.1_Silent_p.Y41Y NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 29 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CCTCTCCGTCGTACTCGTCCG 0.592 NaN 0 0 0 0.01441 0 44 142 CYTSB 92521 broad.mit.edu 37 17 20108086 20108086 + Missense_Mutation SNP G G A rs144644210 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:20108086G>A uc002gwq.2 + 4 869 c.724G>A c.(724-726)GAT>AAT p.D242N CYTSB_uc010cqx.2_Missense_Mutation_p.D242N|CYTSB_uc002gwr.2_Missense_Mutation_p.D242N|CYTSB_uc002gws.2_Missense_Mutation_p.D242N|CYTSB_uc002gwv.2_Missense_Mutation_p.D161N|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.D18N|CYTSB_uc002gwt.2_Missense_Mutation_p.D161N|CYTSB_uc002gwu.2_Missense_Mutation_p.D161N NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 242 nucleus 0 AGAGCTTTCCGATCTAGAGGA 0.498 NaN 0 0 0 0.008361 0 28 110 NBR1 4077 broad.mit.edu 37 17 41343528 41343528 + Missense_Mutation SNP A A T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:41343528A>T uc010czd.2 + 10 1143 c.1003A>T c.(1003-1005)ATC>TTC p.I335F NBR1_uc010diz.2_Missense_Mutation_p.I335F|NBR1_uc010whu.1_Missense_Mutation_p.I335F|NBR1_uc010whv.1_Missense_Mutation_p.I335F|NBR1_uc010whw.1_Missense_Mutation_p.I314F|NBR1_uc010whx.1_Missense_Mutation_p.I144F NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 335 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GTGGAATTCAATCCATGGACT 0.478 NaN 0 0 0 0.009096 0 3 11 CACNA1G 8913 broad.mit.edu 37 17 48649340 48649340 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:48649340G>A uc002irk.1 + 5 1060 c.688G>A c.(688-690)GTC>ATC p.V230I CACNA1G_uc002iri.1_Missense_Mutation_p.V230I|CACNA1G_uc002irj.1_Missense_Mutation_p.V230I|CACNA1G_uc002irl.1_Missense_Mutation_p.V230I|CACNA1G_uc002irm.1_Missense_Mutation_p.V230I|CACNA1G_uc002irn.1_Missense_Mutation_p.V230I|CACNA1G_uc002iro.1_Missense_Mutation_p.V230I|CACNA1G_uc002irp.1_Missense_Mutation_p.V230I|CACNA1G_uc002irq.1_Missense_Mutation_p.V230I|CACNA1G_uc002irr.1_Missense_Mutation_p.V230I|CACNA1G_uc002irs.1_Missense_Mutation_p.V230I|CACNA1G_uc002irt.1_Missense_Mutation_p.V230I|CACNA1G_uc002irv.1_Missense_Mutation_p.V230I|CACNA1G_uc002irw.1_Missense_Mutation_p.V230I|CACNA1G_uc002iru.1_Missense_Mutation_p.V230I|CACNA1G_uc002irx.1_Missense_Mutation_p.V143I|CACNA1G_uc002iry.1_Missense_Mutation_p.V143I|CACNA1G_uc002irz.1_Missense_Mutation_p.V143I|CACNA1G_uc002isa.1_Missense_Mutation_p.V143I|CACNA1G_uc002isb.1_Missense_Mutation_p.V143I|CACNA1G_uc002isc.1_Missense_Mutation_p.V143I|CACNA1G_uc002isd.1_Missense_Mutation_p.V143I|CACNA1G_uc002ise.1_Missense_Mutation_p.V143I|CACNA1G_uc002isf.1_Missense_Mutation_p.V143I|CACNA1G_uc002isg.1_Missense_Mutation_p.V143I|CACNA1G_uc002ish.1_Missense_Mutation_p.V143I|CACNA1G_uc002isi.1_Missense_Mutation_p.V143I NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 230 I.|Helical; Name=S5 of repeat I; (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CATCGTCGGCGTCCAGCTGTG 0.587 NaN 0 0 0 0.016723 0 14 32 KCNJ2 3759 broad.mit.edu 37 17 68172154 68172154 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:68172154G>A uc010dfg.2 + 2 1375 c.974G>A c.(973-975)CGC>CAC p.R325H KCNJ2_uc002jir.2_Missense_Mutation_p.R325H NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 325 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) TGGGGCCACCGCTATGAGCCT 0.493 NaN 0 0 0 0.013537 0 12 57 ESCO1 114799 broad.mit.edu 37 18 19112474 19112474 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr18:19112474G>A uc002kth.1 - 11 3269 c.2335C>T c.(2335-2337)CGT>TGT p.R779C ESCO1_uc002kti.1_RNA NM_052911 NP_443143 Q5FWF5 ESCO1_HUMAN establishment of cohesion 1 homolog 1 779 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding 0 TTCTTCCGACGCATCATGCTG 0.408 NaN 0 0 0 0.008291 0 9 103 ESCO1 114799 broad.mit.edu 37 18 19154691 19154691 + Silent SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr18:19154691T>C uc002kth.1 - 4 1048 c.114A>G c.(112-114)AAA>AAG p.K38K ESCO1_uc002kti.1_RNA NM_052911 NP_443143 Q5FWF5 ESCO1_HUMAN establishment of cohesion 1 homolog 1 38 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding 0 TTGGACCTGATTTTTTTGCTA 0.338 NaN 0 0 0 0.019004 0 36 29 DCC 1630 broad.mit.edu 37 18 50731606 50731606 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr18:50731606G>A uc002lfe.1 + 10 2181 c.1594G>A c.(1594-1596)GAA>AAA p.E532K DCC_uc010xdr.1_Missense_Mutation_p.E380K|DCC_uc010dpf.1_Missense_Mutation_p.E187K NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 532 Extracellular (Potential).|Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGGGCCAGTAGAAAACCTGCA 0.388 NaN 0 0 0 0.01441 0 47 163 FSTL3 10272 broad.mit.edu 37 19 681360 681360 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:681360G>A uc002lpk.1 + 4 568 c.533G>A c.(532-534)CGG>CAG p.R178Q FSTL3_uc010drt.1_RNA NM_005860 NP_005851 O95633 FSTL3_HUMAN follistatin-like 3 glycoprotein precursor 178 Follistatin-like 2. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GTGTGCCCGCGGCCACAGTCG 0.701 NaN T CCND1 B-CLL 0 0 0 0.006214 0 6 11 ZNF414 84330 broad.mit.edu 37 19 8576365 8576365 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:8576365C>T uc002mkf.2 - 6 1048 c.930G>A c.(928-930)GCG>GCA p.A310A ZNF414_uc002mke.3_Intron|ZNF414_uc010dwf.2_Silent_p.A299A NM_032370 NP_115746 Q96IQ9 ZN414_HUMAN zinc finger protein 414 isoform 2 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCACCTGCACGCACCTGAGG 0.687 NaN 0 0 0 0.013537 0 10 21 ADAMTS10 81794 broad.mit.edu 37 19 8665902 8665902 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:8665902G>A uc002mkj.1 - 6 994 c.720C>T c.(718-720)TAC>TAT p.Y240Y ADAMTS10_uc002mkk.1_Translation_Start_Site NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 240 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 GGGTCTCCACGTAGCGCTCTC 0.622 NaN 0 0 0 0.021022 0 35 104 MUC16 94025 broad.mit.edu 37 19 8996396 8996396 + Missense_Mutation SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:8996396C>G uc002mkp.2 - 61 41380 c.41176G>C c.(41176-41178)GAG>CAG p.E13726Q MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E543Q|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13728 Extracellular (Potential).|SEA 11. Missing (in Ref. 3; AAK74120). 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 TGGCTCAGCTCCCAATACAGC 0.567 NaN 0 0 0 0.01441 0 54 108 ZNF844 284391 broad.mit.edu 37 19 12187307 12187307 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:12187307G>C uc002mtb.2 + 4 1515 c.1372G>C c.(1372-1374)GAT>CAT p.D458H ZNF844_uc010dym.1_Missense_Mutation_p.D301H NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGCCTTCAGATCTGCCTCA 0.423 NaN 0 0 0 0.009096 0 4 105 CD97 976 broad.mit.edu 37 19 14512345 14512345 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:14512345C>T uc002myl.2 + 10 1168 c.1045C>T c.(1045-1047)CCC>TCC p.P349S CD97_uc002mym.2_Missense_Mutation_p.P300S|CD97_uc002myn.2_Missense_Mutation_p.P256S NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 349 Extracellular (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 GCCTAAAGGCCCCTTCACCTA 0.612 NaN 0 0 0 0.013537 0 11 71 ZNF529 57711 broad.mit.edu 37 19 37038913 37038913 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:37038913C>T uc002oeh.3 - 5 749 c.547G>A c.(547-549)GAC>AAC p.D183N ZNF529_uc010xth.1_Missense_Mutation_p.D183N|ZNF529_uc010xti.1_Missense_Mutation_p.D165N|ZNF529_uc002oeg.3_Missense_Mutation_p.D78N NM_020951 NP_066002 Q6P280 ZN529_HUMAN zinc finger protein 529 isoform a 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) AACTCTAAGTCACAACTGAAG 0.363 NaN 0 0 0 0.014323 0 23 24 CYP2A6 1548 broad.mit.edu 37 19 41354273 41354273 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:41354273C>T uc002opl.3 - 4 526 c.505G>A c.(505-507)GAT>AAT p.D169N CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 169 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) AAGGTGGGATCGATATTGGCG 0.542 NaN 0 0 0 0.00632 0 17 95 CEACAM4 1089 broad.mit.edu 37 19 42131981 42131981 + Missense_Mutation SNP C C T rs118076769 byFrequency TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:42131981C>T uc002orh.1 - 2 529 c.418G>A c.(418-420)GTA>ATA p.V140I CEACAM4_uc010xwd.1_Missense_Mutation_p.V140I NM_001817 NP_001808 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion 140 Extracellular (Potential). integral to plasma membrane|membrane fraction 0 TCACGGTGTACGTGGAGCTGG 0.562 NaN 0 0 0 0.01441 0 39 199 ZNF534 147658 broad.mit.edu 37 19 52954586 52954586 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:52954586G>A uc002pzj.1 + 5 543 c.418G>A c.(418-420)GTT>ATT p.V140I ZNF534_uc010epo.1_Missense_Mutation_p.V97I|ZNF578_uc002pzm.2_5'Flank|ZNF578_uc002pzn.2_5'Flank|ZNF578_uc002pzp.3_5'Flank|ZNF578_uc002pzo.1_5'Flank|ZNF578_uc010epp.1_5'Flank Q76KX8 ZN534_HUMAN SubName: Full=Putative uncharacterized protein; Error:Variant_position_missing_in_Q76KX8_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTTCCTTCCGTTTCTGCTTC 0.682 NaN 0 0 0 0.014758 0 4 8 TPO 7173 broad.mit.edu 37 2 1497623 1497623 + Silent SNP C C T rs148782927 by1000genomes TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr2:1497623C>T uc002qww.2 + 11 1909 c.1818C>T c.(1816-1818)CCC>CCT p.P606P TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Silent_p.P549P|TPO_uc002qwr.2_Silent_p.P606P|TPO_uc002qwx.2_Silent_p.P549P|TPO_uc010yio.1_Silent_p.P433P|TPO_uc010yip.1_Silent_p.P606P|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 606 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGGAGACCCCCGCTGACCTGA 0.577 NaN 0 0 0 0.010729 0 11 17 DEFB126 81623 broad.mit.edu 37 20 126332 126332 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr20:126332G>A uc002wcx.2 + 2 353 c.335G>A c.(334-336)TGA>TAA p.*112* NM_030931 NP_112193 Q9BYW3 DB126_HUMAN defensin, beta 126 preproprotein 112 defense response to bacterium extracellular region 0 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) CCCACTGGTTGAACATTCCAG 0.408 NaN 0 0 0 0.011902 0 33 178 RALGAPB 57148 broad.mit.edu 37 20 37117126 37117126 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr20:37117126C>T uc002xiw.2 + 2 308 c.51C>T c.(49-51)GGC>GGT p.G17G RALGAPB_uc010zvz.1_Silent_p.G17G|RALGAPB_uc002xix.2_Silent_p.G17G|RALGAPB_uc002xiy.1_Silent_p.G17G NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 17 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 ATGATCAAGGCCATACCAGTG 0.493 NaN 0 0 0 0.019004 0 31 154 TOMM34 10953 broad.mit.edu 37 20 43572202 43572202 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr20:43572202G>A uc002xmy.2 - 6 857 c.717C>T c.(715-717)GTC>GTT p.V239V PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA NM_006809 NP_006800 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 239 TPR 5. protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding 0 Myeloproliferative disorder(115;0.0122) ACTGCTTCAGGACCAAATAGC 0.493 NaN 0 0 0 0.008871 0 17 84 SFRS15 57466 broad.mit.edu 37 21 33065763 33065763 + Missense_Mutation SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr21:33065763T>C uc002ypd.2 - 12 1783 c.1357A>G c.(1357-1359)AGA>GGA p.R453G SFRS15_uc002ype.2_Missense_Mutation_p.R453G|SFRS15_uc010glu.2_Missense_Mutation_p.R438G|SFRS15_uc002ypf.1_Missense_Mutation_p.R127G NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 453 nucleus nucleotide binding|RNA binding 0 CTTCGAGATCTAGAACCAGAT 0.453 NaN 0 0 0 0.013726 0 25 11 MN1 4330 broad.mit.edu 37 22 28193514 28193514 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr22:28193514C>T uc003adj.2 - 1 3973 c.3018G>A c.(3016-3018)ACG>ACA p.T1006T NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1006 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 AGGATGGCGACGTGAGCGCCT 0.701 NaN T ETV6 AML|meningioma 0 0 0 0.00632 0 24 64 MAPK11 5600 broad.mit.edu 37 22 50705688 50705688 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr22:50705688G>A uc003bkr.2 - 5 503 c.445C>T c.(445-447)CGG>TGG p.R149W MAPK11_uc010hax.2_5'UTR|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA|MAPK11_uc011art.1_Missense_Mutation_p.P129L|MAPK11_uc010haz.2_Missense_Mutation_p.R41W NM_002751 NP_002742 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 149 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding lung(1)|breast(1) 2 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCACCTACCCGGTGGATGATC 0.587 NaN 0 0 0 0.001984 0 4 22 SLC6A1 6529 broad.mit.edu 37 3 11058951 11058951 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:11058951C>T uc010hdq.2 + 3 465 c.54C>T c.(52-54)AGC>AGT p.S18S NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 18 Cytoplasmic (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCGAGGTCAGCGAGGCCCCTG 0.637 NaN 0 0 0 0.013537 0 12 65 NUP210 23225 broad.mit.edu 37 3 13376966 13376966 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13376966C>T uc003bxv.1 - 28 3914 c.3831G>A c.(3829-3831)GAG>GAA p.E1277E NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1277 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GGACTTGGATCTCATCCGAGA 0.627 NaN 0 0 0 0.017118 0 25 184 NUP210 23225 broad.mit.edu 37 3 13376980 13376980 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13376980C>T uc003bxv.1 - 28 3900 c.3817G>A c.(3817-3819)GAA>AAA p.E1273K NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1273 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) TCCGAGAGTTCTCTGGCCAGG 0.632 NaN 0 0 0 0.024334 0 15 164 NUP210 23225 broad.mit.edu 37 3 13377022 13377022 + Missense_Mutation SNP C C T rs146409293 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13377022C>T uc003bxv.1 - 28 3858 c.3775G>A c.(3775-3777)GCT>ACT p.A1259T NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1259 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) GGGTCCACAGCCTTGACCACC 0.617 NaN 0 0 0 0.013537 0 9 110 NUP210 23225 broad.mit.edu 37 3 13377029 13377029 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13377029C>T uc003bxv.1 - 28 3851 c.3768G>A c.(3766-3768)GTG>GTA p.V1256V NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1256 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CAGCCTTGACCACCACCCTCA 0.602 NaN 0 0 0 0.008291 0 8 112 NUP210 23225 broad.mit.edu 37 3 13377074 13377074 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13377074C>T uc003bxv.1 - 28 3806 c.3723G>A c.(3721-3723)ATG>ATA p.M1241I NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1241 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CGAGCACGTTCATGGCAAAGT 0.602 NaN 0 0 0 0.010729 0 9 99 PTPRG 5793 broad.mit.edu 37 3 61989042 61989042 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:61989042C>T uc003dlb.2 + 4 1109 c.390C>T c.(388-390)GAC>GAT p.D130D PTPRG_uc003dlc.2_Silent_p.D130D NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 130 Extracellular (Potential).|Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TTCTGAAAGACGACTATTTTG 0.438 NaN 0 0 0 0.007291 0 22 72 FAM19A1 407738 broad.mit.edu 37 3 68466476 68466476 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:68466476G>A uc003dnd.2 + 3 381 c.165G>A c.(163-165)AAG>AAA p.K55K FAM19A1_uc003dne.2_Silent_p.K55K|FAM19A1_uc003dng.2_Silent_p.K55K NM_213609 NP_998774 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine 55 endoplasmic reticulum|extracellular region ovary(1) 1 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GTTGTAACAAGAATCGCATTG 0.468 NaN 0 0 0 0.00632 0 27 41 MORC1 27136 broad.mit.edu 37 3 108682322 108682322 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:108682322G>C uc003dxl.2 - 27 2825 c.2738C>G c.(2737-2739)TCT>TGT p.S913C MORC1_uc011bhn.1_Missense_Mutation_p.S892C NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 913 Potential. cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 CTTATCCTCAGAGATTTTTCT 0.294 NaN 0 0 0 0.01441 0 38 55 C3orf15 89876 broad.mit.edu 37 3 119445049 119445049 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:119445049G>A uc003ede.3 + 7 791 c.714G>A c.(712-714)GTG>GTA p.V238V C3orf15_uc010hqy.1_Silent_p.V238V|C3orf15_uc010hqz.2_Silent_p.V176V|C3orf15_uc011bjd.1_Silent_p.V112V|C3orf15_uc011bje.1_Silent_p.V218V|C3orf15_uc010hra.1_5'UTR NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 238 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) AAGCTGAGGTGGAGATGATAG 0.532 NaN 0 0 0 0.024245 0 14 28 ZIC1 7545 broad.mit.edu 37 3 147127954 147127954 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:147127954G>A uc003ewe.2 + 1 774 c.55G>A c.(55-57)GCG>ACG p.A19T NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 19 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A19A(1) ovary(1)|central_nervous_system(1) 2 CACCTTTGGCGCGTCCCGCCA 0.741 NaN 0 0 0 0.020292 0 12 37 ARPM1 84517 broad.mit.edu 37 3 169485270 169485270 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:169485270C>T uc003ffs.1 - 2 1444 c.1069G>A c.(1069-1071)GCA>ACA p.A357T TERC_uc003ffr.1_5'Flank NM_032487 NP_115876 Q9BYD9 ARPM1_HUMAN actin related protein M1 357 cytoplasm|cytoskeleton 0 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TTAAATTCTGCAGCAGTGATC 0.398 NaN 0 0 0 0.00499 0 14 195 TP63 8626 broad.mit.edu 37 3 189455639 189455639 + Missense_Mutation SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:189455639T>C uc003fry.2 + 2 262 c.173T>C c.(172-174)ATC>ACC p.I58T TP63_uc003frx.2_Missense_Mutation_p.I58T|TP63_uc003frz.2_Missense_Mutation_p.I58T|TP63_uc010hzc.1_Missense_Mutation_p.I58T NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 58 Transcription activation. 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) TTCCAGCATATCTGGGATTTT 0.403 NaN Hay-Wells_syndrome HNSCC(45;0.13) 0 0 0 0.028581 0 14 51 CRMP1 1400 broad.mit.edu 37 4 5837699 5837699 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:5837699G>A uc003gip.2 - 12 1325 c.1224C>T c.(1222-1224)GAC>GAT p.D408D CRMP1_uc003gin.1_Silent_p.D320D|CRMP1_uc003giq.2_Silent_p.D408D|CRMP1_uc003gir.2_Silent_p.D403D|CRMP1_uc003gis.2_Silent_p.D522D NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 408 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) AGATGACCACGTCGGCATCCG 0.517 NaN 0 0 0 0.015359 0 33 84 LGI2 55203 broad.mit.edu 37 4 25005321 25005321 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:25005321C>A uc003grf.2 - 8 1489 c.1390G>T c.(1390-1392)GCC>TCC p.A464S NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 464 EAR 6. extracellular region 0 Breast(46;0.173) AGGGTCATGGCCCCCCGGGAT 0.512 NaN 1 0 3.00307e-07 0.008361 3.19434e-07 27 146 TBC1D1 23216 broad.mit.edu 37 4 38016441 38016441 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:38016441G>A uc003gtb.2 + 3 1072 c.729G>A c.(727-729)TCG>TCA p.S243S TBC1D1_uc011byd.1_Silent_p.S243S|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.S114S NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 243 nucleus Rab GTPase activator activity ovary(1) 1 GCCTGCGCTCGCTGGCCTTTA 0.672 NaN 0 0 0 0.001984 0 7 7 FRYL 285527 broad.mit.edu 37 4 48549697 48549697 + Nonsense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:48549697G>A uc003gyh.1 - 41 5583 c.4978C>T c.(4978-4980)CGA>TGA p.R1660* FRYL_uc003gyg.1_Nonsense_Mutation_p.R356*|FRYL_uc003gyi.1_Nonsense_Mutation_p.R549*|FRYL_uc003gyj.1_5'Flank NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1660 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GCAACAGTTCGGATGTTACTA 0.418 NaN 0 0 0 0.013537 0 12 37 PDGFRA 5156 broad.mit.edu 37 4 55140704 55140704 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:55140704G>A uc003han.3 + 11 1896 c.1565G>A c.(1564-1566)CGT>CAT p.R522H PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R416H|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 522 Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTAGCCCTGCGTTCTGAACTC 0.498 NaN Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 0 0 0 0.009535 0 27 83 SORBS2 8470 broad.mit.edu 37 4 186545479 186545479 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:186545479G>A uc003iyl.2 - 13 1950 c.1092C>T c.(1090-1092)AAC>AAT p.N364N SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.N464N|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.N268N|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.N478N|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 364 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGATTTCTGCGTTTTGCCGGG 0.517 NaN 0 0 0 0.009096 0 3 55 SLC9A3 6550 broad.mit.edu 37 5 482184 482184 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:482184C>T uc003jbe.2 - 8 1557 c.1445G>A c.(1444-1446)CGC>CAC p.R482H SLC9A3_uc011clx.1_Missense_Mutation_p.R473H NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 482 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGCACTTACGCGCCCGTGCAG 0.692 NaN 0 0 0 0.014758 0 3 25 SLC9A3 6550 broad.mit.edu 37 5 484634 484634 + Splice_Site SNP C C T rs144524702 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:484634C>T uc003jbe.2 - 5 1044 c.932_splice c.e5+1 p.A311_splice SLC9A3_uc011clx.1_Splice_Site_p.A311_splice NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GAGGGACTCACGCGAGGATGG 0.642 NaN 0 0 0 0.010504 0 17 31 SLC6A18 348932 broad.mit.edu 37 5 1232401 1232401 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:1232401C>T uc003jby.1 + 2 351 c.228C>T c.(226-228)CTC>CTT p.L76L NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 76 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACGTCGAGCTCGCCATCGGCC 0.667 NaN 0 0 0 0.014758 0 3 38 MAP3K1 4214 broad.mit.edu 37 5 56177590 56177590 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:56177590C>T uc003jqw.3 + 14 3064 c.2563C>T c.(2563-2565)CGT>TGT p.R855C NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 855 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GATGCGTCGCCGTTTGATGGC 0.478 NaN 0 0 0 0.010729 0 8 80 MEGF10 84466 broad.mit.edu 37 5 126781188 126781188 + Missense_Mutation SNP G G T rs138372925 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:126781188G>T uc003kuh.3 + 21 2893 c.2531G>T c.(2530-2532)CGA>CTA p.R844L MEGF10_uc003kui.3_Missense_Mutation_p.R844L NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 844 Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AGCTTAAGCCGAACCAGTACT 0.438 NaN 1 0 1.51926e-22 0.01441 1.68024e-22 39 45 KDM3B 51780 broad.mit.edu 37 5 137761242 137761242 + Missense_Mutation SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:137761242A>G uc003lcy.1 + 17 4582 c.4382A>G c.(4381-4383)GAT>GGT p.D1461G KDM3B_uc010jew.1_Missense_Mutation_p.D1117G|KDM3B_uc011cys.1_Missense_Mutation_p.D493G NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1461 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 AAAGTTCGGGATTTCTGGGAT 0.453 NaN 0 0 0 0.01441 0 51 43 PCDHGA2 56113 broad.mit.edu 37 5 140719540 140719540 + Silent SNP C C T rs149528645 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:140719540C>T uc003ljk.1 + 1 1187 c.1002C>T c.(1000-1002)ATC>ATT p.I334I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.I334I NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 334 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAAGGTTATCGTCACGGTTC 0.428 NaN 0 0 0 0.013114 0 41 135 PCDHGB1 56104 broad.mit.edu 37 5 140730581 140730581 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:140730581G>A uc003ljo.1 + 1 754 c.754G>A c.(754-756)GTA>ATA p.V252I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.V252I NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 252 Extracellular (Potential).|Cadherin 3. 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) CCAAGAAAACGTACCGTGGGG 0.522 NaN 0 0 0 0.007413 0 17 66 PCDHGA8 9708 broad.mit.edu 37 5 140774130 140774130 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:140774130C>T uc003lkd.1 + 1 2648 c.1750C>T c.(1750-1752)CGT>TGT p.R584C 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_uc003lkb.3_Missense_Mutation_p.R584C NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 584 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) CTCCGCAGAGCGTGGCTACCT 0.672 NaN 0 0 0 0.01441 0 47 146 KIAA0319 9856 broad.mit.edu 37 6 24596319 24596319 + Missense_Mutation SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:24596319A>G uc011djo.1 - 3 820 c.583T>C c.(583-585)TTC>CTC p.F195L KIAA0319_uc011djp.1_Missense_Mutation_p.F150L|KIAA0319_uc003neh.1_Missense_Mutation_p.F195L|KIAA0319_uc011djq.1_Missense_Mutation_p.F186L|KIAA0319_uc011djr.1_Missense_Mutation_p.F195L NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 195 Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 GAGGAGTTGAAGGCCCCCTCG 0.632 NaN 0 0 0 0.006122 0 13 23 HIST1H1E 3008 broad.mit.edu 37 6 26156830 26156830 + Missense_Mutation SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:26156830A>G uc003ngq.2 + 1 272 c.212A>G c.(211-213)TAT>TGT p.Y71C HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 71 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 GCCGCTGGCTATGACGTGGAG 0.627 NaN 0 0 0 0.006122 0 15 30 MUC21 394263 broad.mit.edu 37 6 30954151 30954151 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:30954151G>A uc003nsh.2 + 2 450 c.199G>A c.(199-201)GTG>ATG p.V67M MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 67 Ser-rich.|3.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 AGGGTCCAGCGTGACCTCCAA 0.572 NaN 0 0 0 0.01441 0 68 180 RNF5 6048 broad.mit.edu 37 6 32146400 32146400 + Missense_Mutation SNP G G T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:32146400G>T uc003oaj.3 + 1 239 c.112G>T c.(112-114)GTG>TTG p.V38L AGPAT1_uc003oae.2_5'Flank|AGPAT1_uc011dpk.1_5'Flank|AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank|AGPAT1_uc003oai.1_5'Flank|AGPAT1_uc011dpl.1_5'Flank NM_006913 NP_008844 Q99942 RNF5_HUMAN ring finger protein 5 38 RING-type. ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 TCGGGAAGCTGTGGTCAGTGT 0.612 NaN 1 0 1.57019e-19 0.007835 1.71387e-19 29 97 B3GALT4 8705 broad.mit.edu 37 6 33245984 33245984 + Nonsense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:33245984C>A uc003odr.2 + 1 1068 c.788C>A c.(787-789)TCA>TAA p.S263* NM_003782 NP_003773 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 263 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1)|breast(1) 2 CCCTATGCCTCAGGCACGGGG 0.637 NaN 1 0 2.47511e-08 0.008361 2.66673e-08 30 39 LEMD2 221496 broad.mit.edu 37 6 33740447 33740447 + Missense_Mutation SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:33740447C>G uc011drm.1 - 9 1483 c.1470G>C c.(1468-1470)TGG>TGC p.W490C LEMD2_uc010jvg.2_Missense_Mutation_p.W199C|LEMD2_uc011drl.1_Missense_Mutation_p.W188C|LEMD2_uc003ofe.2_Missense_Mutation_p.W188C NM_181336 NP_851853 Q8NC56 LEMD2_HUMAN LEM domain containing 2 isoform 1 490 integral to nuclear inner membrane central_nervous_system(1) 1 TAGTCCATCTCCACACCAGCA 0.622 NaN 0 0 0 0.027894 0 35 37 FAM135A 57579 broad.mit.edu 37 6 71234834 71234834 + Nonsense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:71234834C>T uc003pfj.2 + 13 2180 c.2047C>T c.(2047-2049)CGA>TGA p.R683* FAM135A_uc003pfi.2_Nonsense_Mutation_p.R487*|FAM135A_uc003pfh.2_Nonsense_Mutation_p.R470*|FAM135A_uc003pfl.2_Nonsense_Mutation_p.R350*|FAM135A_uc003pfn.2_Nonsense_Mutation_p.R113*|FAM135A_uc003pfo.1_Nonsense_Mutation_p.R54* NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 683 central_nervous_system(1) 1 GACAGAGCTTCGACAAGAGGA 0.353 NaN 0 0 0 0.023175 0 34 42 LAMA2 3908 broad.mit.edu 37 6 129380937 129380937 + Missense_Mutation SNP C C T rs140199131 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:129380937C>T uc003qbn.2 + 3 397 c.292C>T c.(292-294)CCG>TCG p.P98S LAMA2_uc003qbo.2_Missense_Mutation_p.P98S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 98 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGAGAGACACCCGATTACAAA 0.328 NaN 0 0 0 0.004482 0 9 44 ALDH8A1 64577 broad.mit.edu 37 6 135263702 135263702 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:135263702C>T uc003qew.2 - 3 340 c.287G>A c.(286-288)GGG>GAG p.G96E ALDH8A1_uc003qex.2_Missense_Mutation_p.G96E|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.G96E NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 96 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TAAGGTTTTCCCTGTAAGAAG 0.522 NaN 0 0 0 0.007413 0 18 573 PLEKHG1 57480 broad.mit.edu 37 6 151055093 151055093 + Silent SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:151055093A>G uc003qny.1 + 3 588 c.276A>G c.(274-276)AGA>AGG p.R92R PLEKHG1_uc011eel.1_Silent_p.R132R|PLEKHG1_uc011eem.1_Silent_p.R151R|PLEKHG1_uc003qnz.2_Silent_p.R92R NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 92 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CGCAGTGGAGAGTGGACTCAA 0.602 NaN 0 0 0 0.001984 0 5 31 SERAC1 84947 broad.mit.edu 37 6 158564168 158564168 + Nonsense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:158564168G>A uc003qrc.2 - 8 800 c.658C>T c.(658-660)CAA>TAA p.Q220* SERAC1_uc003qrb.2_5'UTR NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN serine active site containing 1 220 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds 0 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) AGCTCTGTTTGAGGTAAGGAA 0.373 NaN 0 0 0 0.015359 0 27 52 PARK2 5071 broad.mit.edu 37 6 162864342 162864342 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:162864342C>T uc003qtx.3 - 2 305 c.171G>A c.(169-171)CAG>CAA p.Q57Q PARK2_uc010kkd.2_5'UTR|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Silent_p.Q57Q|PARK2_uc003qtz.3_Silent_p.Q57Q|PARK2_uc010kke.1_Silent_p.Q57Q NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 57 Ubiquitin-like. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GGAGACTCACCTGCACAGTCC 0.567 NaN 0 0 0 0.028581 0 15 53 FZD9 8326 broad.mit.edu 37 7 72850005 72850005 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:72850005C>T uc003tyb.2 + 1 1897 c.1668C>T c.(1666-1668)CGC>CGT p.R556R NM_003508 NP_003499 O00144 FZD9_HUMAN frizzled 9 precursor 556 Cytoplasmic (Potential). B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) AGGCCTGCCGCGCCCCCGGGA 0.652 NaN 0 0 0 0.00308 0 7 51 CYP3A7 1551 broad.mit.edu 37 7 99314836 99314836 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:99314836C>T uc003uru.2 - 6 590 c.485G>A c.(484-486)CGG>CAG p.R162Q ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 162 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.R162R(1) ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CTCTGCTTCCCGCCTCAGATT 0.502 NaN 0 0 0 0.025465 0 26 104 MUC17 140453 broad.mit.edu 37 7 100686998 100686998 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:100686998C>T uc003uxp.1 + 3 12354 c.12301C>T c.(12301-12303)CGG>TGG p.R4101W MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4101 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACCCAGCACACGGACCACTTC 0.562 NaN 0 0 0 0.007291 0 28 102 AASS 10157 broad.mit.edu 37 7 121741434 121741434 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:121741434C>T uc003vka.2 - 12 1493 c.1397G>A c.(1396-1398)CGG>CAG p.R466Q AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.R466Q|AASS_uc011knw.1_5'UTR NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 466 protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) CCTGCTCTCCCGGAGTGTCTG 0.318 NaN 0 0 0 0.014323 0 17 59 ZNF786 136051 broad.mit.edu 37 7 148768943 148768943 + Silent SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:148768943T>C uc003wfh.2 - 4 1058 c.921A>G c.(919-921)CCA>CCG p.P307P ZNF786_uc011kuk.1_Silent_p.P270P|ZNF786_uc003wfi.2_Silent_p.P221P NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGCTGTCCACTGGGAGGGAGC 0.697 NaN 0 0 0 0.006122 0 15 22 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:12957624C>G uc003wwm.2 - 9 2666 c.2222G>C c.(2221-2223)AGC>ACC p.S741T DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GCTGCTGCTGCTGGTCTGCGT 0.627 NaN 0 0 0 0.009096 0 3 90 MTMR7 9108 broad.mit.edu 37 8 17157445 17157445 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:17157445C>T uc003wxm.2 - 14 2148 c.1909G>A c.(1909-1911)GGT>AGT p.G637S MTMR7_uc011kya.1_Missense_Mutation_p.G271S|MTMR7_uc011kyb.1_Missense_Mutation_p.G228S NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 637 protein tyrosine phosphatase activity skin(1) 1 Colorectal(111;0.112) TGCTCACCACCACTTGGAGAC 0.498 NaN 0 0 0 0.01441 0 70 66 FZD3 7976 broad.mit.edu 37 8 28385479 28385479 + Missense_Mutation SNP G G T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:28385479G>T uc003xgx.2 + 5 1680 c.1202G>T c.(1201-1203)CGA>CTA p.R401L FZD3_uc010lvb.2_Missense_Mutation_p.R401L NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 401 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) AACAGAGTTCGAATTGAGATT 0.403 NaN 1 0 1.17611e-34 0.01441 1.3094e-34 82 83 FUT10 84750 broad.mit.edu 37 8 33247281 33247281 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:33247281G>A uc003xje.2 - 4 768 c.412C>T c.(412-414)CGG>TGG p.R138W FUT10_uc003xjc.2_Missense_Mutation_p.R145W|FUT10_uc003xjd.2_Missense_Mutation_p.R110W|FUT10_uc011lbi.1_Missense_Mutation_p.R188W|FUT10_uc003xjf.2_Missense_Mutation_p.R76W|FUT10_uc003xjg.2_Missense_Mutation_p.R110W|FUT10_uc003xjh.2_Missense_Mutation_p.R138W NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 138 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TGGGCTTTCCGAGGCAGAGGT 0.388 NaN 0 0 0 0.007835 0 37 71 PXDNL 137902 broad.mit.edu 37 8 52384861 52384861 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:52384861C>A uc003xqu.3 - 8 799 c.698G>T c.(697-699)AGC>ATC p.S233I NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 233 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AATTCGGGGGCTCTCTGCAAC 0.408 NaN 1 0 8.34094e-07 0.008871 8.70585e-07 17 133 VPS13B 157680 broad.mit.edu 37 8 100865842 100865842 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:100865842G>A uc003yiv.2 + 56 10411 c.10300G>A c.(10300-10302)GAG>AAG p.E3434K VPS13B_uc003yiw.2_Missense_Mutation_p.E3409K NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3434 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCCTGGGGAAGAGCCTGTGGC 0.527 NaN 0 0 0 0.01441 0 45 58 PKHD1L1 93035 broad.mit.edu 37 8 110498987 110498987 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:110498987G>A uc003yne.2 + 59 9921 c.9817G>A c.(9817-9819)GAG>AAG p.E3273K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3273 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CGGTTGGTCTGAGGACTCTTT 0.423 NaN HNSCC(38;0.096) 0 0 0 0.01441 0 59 336 CSMD3 114788 broad.mit.edu 37 8 113694839 113694839 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:113694839G>A uc003ynu.2 - 16 2668 c.2509C>T c.(2509-2511)CCT>TCT p.P837S CSMD3_uc003yns.2_Missense_Mutation_p.P109S|CSMD3_uc003ynt.2_Missense_Mutation_p.P797S|CSMD3_uc011lhx.1_Missense_Mutation_p.P733S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 837 Sushi 4.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGTATTCCAGGATCAGGGCAT 0.358 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.007413 0 15 164 C8orf85 441376 broad.mit.edu 37 8 117950663 117950663 + Nonsense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:117950663C>T uc003yof.2 + 1 200 c.181C>T c.(181-183)CGA>TGA p.R61* NM_001025357 NP_001020528 Q4LEZ3 AARD_HUMAN alanine and arginine-rich domain-containing 61 Ala/Arg-rich. 0 GGACCTCAGACGACGGCTGAC 0.607 NaN 0 0 0 0.014758 0 4 35 FER1L6 654463 broad.mit.edu 37 8 125082841 125082841 + Splice_Site SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:125082841C>T uc003yqw.2 + 30 4172 c.3966_splice c.e30+2 p.K1322_splice uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAATTTAAGGCAGGTTCCATT 0.418 NaN 0 0 0 0.027894 0 33 109 FLJ43860 389690 broad.mit.edu 37 8 142481169 142481169 + Missense_Mutation SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:142481169C>G uc003ywi.2 - 16 2073 c.1992G>C c.(1990-1992)TTG>TTC p.L664F FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 664 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGTGGCACATCAAGAGCTGGT 0.592 NaN 0 0 0 0.01441 0 77 338 C9orf46 55848 broad.mit.edu 37 9 5431965 5431965 + Missense_Mutation SNP A A T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr9:5431965A>T uc003zjc.2 - 3 217 c.13T>A c.(13-15)TTT>ATT p.F5I C9orf46_uc003zjd.2_Missense_Mutation_p.F5I NM_018465 NP_060935 Q9HBL7 CI046_HUMAN hypothetical protein LOC55848 5 integral to membrane ovary(1) 1 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125) GATTTTGAAAATATAAACCCC 0.313 NaN 0 0 0 0.021553 0 5 5 RUSC2 9853 broad.mit.edu 37 9 35547012 35547012 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr9:35547012G>A uc003zww.2 + 2 749 c.494G>A c.(493-495)CGG>CAG p.R165Q RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R165Q NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 165 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ACACGCAGTCGGGCTGGAGTG 0.622 NaN 0 0 0 0.016522 0 22 69 NOL8 55035 broad.mit.edu 37 9 95081520 95081520 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr9:95081520C>T uc004arv.2 - 5 737 c.400G>A c.(400-402)GAA>AAA p.E134K NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.E66K|NOL8_uc004arx.2_Missense_Mutation_p.E134K NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 134 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 CCTGGCACTTCTGTCCCTGGC 0.463 NaN 0 0 0 0.016723 0 12 30 NOTCH1 4851 broad.mit.edu 37 9 139399897 139399897 + Missense_Mutation SNP T T A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr9:139399897T>A uc004chz.2 - 25 4451 c.4451A>T c.(4450-4452)AAT>ATT p.N1484I NOTCH1_uc004cia.1_Missense_Mutation_p.N714I NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1484 Extracellular (Potential).|LNR 1. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCAGGGGTCATTGAAGTTGAG 0.622 NaN T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 0 0 0 0.020292 0 9 36 CLCN4 1183 broad.mit.edu 37 X 10188760 10188760 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chrX:10188760G>A uc004csy.3 + 12 2465 c.2035G>A c.(2035-2037)GAA>AAA p.E679K CLCN4_uc011mid.1_Missense_Mutation_p.E585K NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 679 Cytoplasmic (By similarity). early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 CTTCACGGAGGAACCCCCCGA 0.567 NaN 0 0 0 0.01441 0 109 35 XAGE5 170627 broad.mit.edu 37 X 52844174 52844174 + Silent SNP C C T rs146352090 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chrX:52844174C>T uc004drd.1 + 4 302 c.237C>T c.(235-237)TGC>TGT p.C79C NM_130775 NP_570131 Q8WWM1 GAGD5_HUMAN X antigen family, member 5 79 ovary(1) 1 GGGATGAATGCGGAGATAGTC 0.438 NaN 0 0 0 0.008361 0 26 47 MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:150551492_150551494delTCC uc001euz.2 - 1 643_645 c.513_515delGGA c.(511-516)GAGGAC>GAC p.E171del MCL1_uc010pch.1_In_Frame_Del_p.E61del|MCL1_uc001eva.2_In_Frame_Del_p.E171del NM_021960 NP_068779 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 isoform 1 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity 0 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 NaN NaN NaN NaN NaN NaN 7 192 --- --- TNR 7143 broad.mit.edu 37 1 175372615 175372615 + Frame_Shift_Del DEL C C - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:175372615delC uc001gkp.1 - 2 718 c.637delG c.(637-639)GTGfs p.V213fs TNR_uc009wwu.1_Frame_Shift_Del_p.V213fs|TNR_uc010pmz.1_Frame_Shift_Del_p.V213fs NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 213 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCCACACACACCCCCCGGCTG 0.607 NaN NaN NaN NaN NaN NaN 7 611 --- --- CACNA1S 779 broad.mit.edu 37 1 201029886 201029886 + Frame_Shift_Del DEL T T - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:201029886delT uc001gvv.2 - 26 3541 c.3314delA c.(3313-3315)AACfs p.N1105fs NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1105 Cytoplasmic (Potential).|IV. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTGGTATGGGTTTTTGGGAAT 0.532 NaN NaN NaN NaN NaN NaN 7 785 --- --- ELF3 1999 broad.mit.edu 37 1 201981520 201981521 + Frame_Shift_Ins INS - - G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 - G - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:201981520_201981521insG uc001gxg.3 + 3 3626_3627 c.434_435insG c.(433-435)AAGfs p.K145fs ELF3_uc001gxi.3_Frame_Shift_Ins_p.K145fs|ELF3_uc001gxh.3_Frame_Shift_Ins_p.K145fs NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 145 9aaTAD. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 CTGCTGGAGAAGGATGGCATGG 0.579 NaN NaN NaN NaN NaN NaN 25 184 --- --- JUP 3728 broad.mit.edu 37 17 39681230 39681231 + Frame_Shift_Ins INS - - AG TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:39681230_39681231insAG uc010wfs.1 - 6 1021_1022 c.1013_1014insCT c.(1012-1014)CTGfs p.L338fs KRT19_uc002hxd.3_Frame_Shift_Ins_p.L175fs NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin Error:Variant_position_missing_in_P14923_after_alignment adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CGCTCATGCGCAGAGCCTGTTC 0.584 NaN NaN NaN NaN NaN NaN 77 120 --- --- ST6GALNAC1 55808 broad.mit.edu 37 17 74625715 74625716 + Frame_Shift_Del DEL TG TG - rs8081258 byFrequency TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:74625715_74625716delTG uc002jsh.2 - 2 383_384 c.209_210delCA c.(208-210)GCAfs p.A70fs ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_RNA NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN sialyltransferase 7A 70 Lumenal (Potential). protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity 0 TTGTCCTCCTTGCCCTTGTGGG 0.535 NaN NaN NaN NaN NaN NaN 70 141 --- --- ZNF578 147660 broad.mit.edu 37 19 53014654 53014654 + Frame_Shift_Del DEL G G - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:53014654delG uc002pzp.3 + 6 1264 c.1020delG c.(1018-1020)GAGfs p.E340fs NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ACACTGGTGAGAAACCTTACA 0.403 NaN NaN NaN NaN NaN NaN 21 119 --- --- C20orf186 149954 broad.mit.edu 37 20 31685499 31685501 + In_Frame_Del DEL AGA AGA - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr20:31685499_31685501delAGA uc010zue.1 + 11 1490_1492 c.1475_1477delAGA c.(1474-1479)CAGAAG>CAG p.K493del NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 493 cytoplasm|extracellular region lipid binding 0 GTGATGCTGCAGAAGGACAAAGC 0.576 NaN NaN NaN NaN NaN NaN 28 140 --- --- FBLN2 2199 broad.mit.edu 37 3 13612699 13612701 + In_Frame_Del DEL GAG GAG - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13612699_13612701delGAG uc011avb.1 + 2 969_971 c.844_846delGAG c.(844-846)GAGdel p.E286del FBLN2_uc011auz.1_In_Frame_Del_p.E312del|FBLN2_uc011ava.1_In_Frame_Del_p.E286del|FBLN2_uc011avc.1_In_Frame_Del_p.E286del NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 286 Subdomain NB (Cys-free).|N. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) ggaggaagaagaggaggaggagg 0.557 NaN NaN NaN NaN NaN NaN 7 350 --- --- MAP4 4134 broad.mit.edu 37 3 47913557 47913558 + In_Frame_Ins INS - - CCG TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:47913557_47913558insCCG uc003csb.2 - 11 2881_2882 c.2355_2356insCGG c.(2353-2358)insCGG p.785_786insR MAP4_uc003csc.3_In_Frame_Ins_p.785_786insR|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_In_Frame_Ins_p.45_46insR|MAP4_uc011bbe.1_In_Frame_Ins_p.536_537insR|MAP4_uc003cry.2_In_Frame_Ins_p.520_521insR|MAP4_uc003csa.3_In_Frame_Ins_p.520_521insR|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_In_Frame_Ins_p.520_521insR NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 785_786 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GATGGTGAGGCCCGCTTCTCAG 0.55 NaN NaN NaN NaN NaN NaN 74 256 --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:1019055_1019056delCA uc003gce.2 + 7 1596_1597 c.1435_1436delCA c.(1435-1437)CACfs p.H479fs FGFRL1_uc003gcf.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.2_Frame_Shift_Del_p.H479fs NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich.|Cytoplasmic (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.46 NaN NaN NaN NaN NaN NaN 5 10 --- --- C6orf153 88745 broad.mit.edu 37 6 42989434 42989451 + In_Frame_Del DEL CGGGGCCCGACGTCCCCG CGGGGCCCGACGTCCCCG - rs60664426 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG uc003otp.1 + 1 50_67 c.42_59delCGGGGCCCGACGTCCCCG c.(40-60)GCCGGGGCCCGACGTCCCCGC>GCC p.GARRPR15del NM_033112 NP_149103 Q96EU6 RRP36_HUMAN hypothetical protein LOC88745 15_20 ribosomal small subunit biogenesis|rRNA processing nucleolus 0 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) gggccggggccggggcccgacgtccccgcggggcccgg 0.55 NaN NaN NaN NaN NaN NaN 3 3 --- --- THSD7A 221981 broad.mit.edu 37 7 11871469 11871470 + In_Frame_Ins INS - - GCAGCG TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:11871469_11871470insGCAGCG uc003ssf.3 - 1 355_356 c.103_104insCGCTGC c.(103-105)CTC>CCGCTGCTC p.34_35insPL NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 34_35 integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) cagcagcaggagcagcggcagc 0.436 NaN HNSCC(18;0.044) NaN NaN NaN NaN NaN 4 8 --- ---