Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PTPRD 5789 broad.mit.edu 37 9 8454579 8454579 + Splice_Site SNP C C A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr9:8454579C>A uc003zkp.3 - 18 2760 c.2657_splice c.e18+1 p.R886_splice PTPRD_uc003zkq.3_Splice_Site_p.R885_splice|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Splice_Site_p.R882_splice|PTPRD_uc003zkk.3_Intron NM_130392 NP_569076 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 3, mRNA. 1292 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTATTCCTCACCTGTCGGGTT 0.408000 TSP Lung(15;0.13) 5 18 0 0 1 0 0 WT1-AS 51352 broad.mit.edu 37 11 32460511 32460511 + RNA SNP T T C TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr11:32460511T>C uc010rec.2 + 1 c.1229T>C WT1-AS_uc010red.2_Non-coding_Transcript|WT1-AS_uc021qfr.1_Non-coding_Transcript Homo sapiens WT1 antisense RNA (non-protein coding) (WT1-AS), non-coding RNA. endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 CGAAGGTGCATAATTATTGCA 0.532000 3 27 0 0 1 0 0 CT45A5 441521 broad.mit.edu 37 X 134947924 134947924 + Missense_Mutation SNP A A T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chrX:134947924A>T uc004eze.3 - 2 646 c.401T>A c.(400-402)aTc>aAc p.I134N CT45A5_uc022ces.1_Missense_Mutation_p.I134N|CT45A5_uc011mvu.2_Missense_Mutation_p.I134N NM_001007551 NP_001165759 Q6NSH3 CT455_HUMAN Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA. 134 p.I134L(1)|p.E133*(1) endometrium(1)|large_intestine(2)|lung(6) 9 AAGGCATCGGATTTCCTTCAC 0.378000 35 55 0 0 1 0 0 C19orf35 374872 broad.mit.edu 37 19 2278644 2278644 + Missense_Mutation SNP T T C TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr19:2278644T>C uc002lvn.2 - 2 651 c.551A>G c.(550-552)gAc>gGc p.D184G SPPL2B_uc010dsw.1_Intron NM_198532 NP_940934 Q6ZS72 CS035_HUMAN Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA. 184 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 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) ATACAGGGCGTCCCCGCTCTC 0.726000 6 9 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525828 248525828 + Missense_Mutation SNP G G T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr1:248525828G>T uc001ieh.1 + 0 946 c.946G>T c.(946-948)Gtg>Ttg p.V316L NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 316 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 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;0.0265) CCTCACTCCAGTGGTGAACCC 0.463000 73 100 0 0 1 0 0 ZNF384 171017 broad.mit.edu 37 12 6781601 6781601 + Missense_Mutation SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr12:6781601G>A uc010sfh.2 - 7 1279 c.1009C>T c.(1009-1011)Cgt>Tgt p.R337C ZNF384_uc001qqa.3_Intron|ZNF384_uc001qqd.3_Intron NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA. 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 GAGTGGATACGGAGGTGCTGG 0.617000 T """EWSR1, TAF15 """ ALL 27 36 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142031581 142031581 + Silent SNP C C T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr3:142031581C>T uc003eus.3 - 40 4744 c.4677G>A c.(4675-4677)tcG>tcA p.S1559S XRN1_uc010huu.3_Silent_p.S1013S|XRN1_uc003eut.3_Silent_p.S1546S|XRN1_uc003euu.3_Silent_p.S1547S NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA. 1559 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|RNA binding|protein binding p.S1558L(1) NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 AGAGATGAGACGACGAAGGCA 0.443000 5 120 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9588150 9588150 + Silent SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr18:9588150G>A uc002koe.1 - 5 640 c.522C>T c.(520-522)tgC>tgT p.C174C PPP4R1_uc010wzo.1_Silent_p.C131C|PPP4R1_uc002kod.1_Silent_p.C157C|PPP4R1_uc010wzp.1_Non-coding_Transcript NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA. 174 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TGAGGACAGGGCACACTTTGG 0.448000 3 32 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411842 51411842 + Missense_Mutation SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr11:51411842G>A uc001nhi.2 - 0 607 c.554C>T c.(553-555)gCa>gTa p.A185V NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L184R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) GTCAGTGCATGCCAGTTCCAG 0.423000 14 12 0 0 1 0 0 RSRC2 65117 broad.mit.edu 37 12 123001975 123001975 + Missense_Mutation SNP C C T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr12:123001975C>T uc001ucr.3 - 4 561 c.401G>A c.(400-402)cGc>cAc p.R134H RSRC2_uc001uco.3_5'UTR|RSRC2_uc001ucp.3_Missense_Mutation_p.R75H|RSRC2_uc001ucs.3_5'UTR|RSRC2_uc001uct.3_Missense_Mutation_p.R86H|RSRC2_uc021rfm.1_Missense_Mutation_p.R134H NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN Homo sapiens arginine/serine-rich coiled-coil 2 (RSRC2), transcript variant 1, mRNA. 134 Ser-rich. breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) ACTACGATGGCGTCTGAAATT 0.398000 3 28 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80715612 80715612 + Missense_Mutation SNP A A G TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr6:80715612A>G uc003pjc.3 + 1 163 c.52A>G c.(52-54)Aac>Gac p.N18D TTK_uc003pjb.4_Missense_Mutation_p.N18D NM_003318 NP_003309 P33981 TTK_HUMAN Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA. 18 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TTCCATAATGAACAAAGTGAG 0.313000 7 56 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2203563 2203563 + Silent SNP G G T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr17:2203563G>T uc002fub.1 - 1 539 c.484C>A c.(484-486)Cgg>Agg p.R162R SMG6_uc002fud.2_Silent_p.R131R NM_017575 NP_060045 Q86US8 EST1A_HUMAN Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA. 162 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding p.R162L(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TCCTCCACCCGACTGGCGGAT 0.468000 9 211 0 0 1 0 0 RNF7 9616 broad.mit.edu 37 3 141462360 141462360 + Missense_Mutation SNP T T G TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr3:141462360T>G uc003eud.3 + 1 318 c.185T>G c.(184-186)cTt>cGt p.L62R RNF7_uc021xet.1_Non-coding_Transcript|RNF7_uc003eue.3_Non-coding_Transcript|RNF7_uc003euc.3_Missense_Mutation_p.L60V|RNF7_uc021xeu.1_Intron NM_014245 NP_055060 Q9UBF6 RBX2_HUMAN Homo sapiens ring finger protein 7 (RNF7), transcript variant 1, mRNA. 62 anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state cytoplasm|nucleus NEDD8 ligase activity|copper ion binding|protein binding|zinc ion binding p.L62V(1) kidney(1)|lung(3)|upper_aerodigestive_tract(1) 5 GATGCCTGTCTTAGATGTCAA 0.358000 23 54 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087741 49087741 + Missense_Mutation SNP G G T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr12:49087741G>T uc001rsd.4 - 8 1579 c.1256C>A c.(1255-1257)gCa>gAa p.A419E CCNT1_uc009zkz.2_Missense_Mutation_p.A134E|CCNT1_uc021qxk.1_5'Flank NM_001240 NP_001231 O60563 CCNT1_HUMAN Homo sapiens cyclin T1 (CCNT1), mRNA. 419 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 GGCAGCATATGCATATTGTGA 0.463000 81 102 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39635994 39635994 + Missense_Mutation SNP C C T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr17:39635994C>T uc002hws.3 - 1 554 c.511G>A c.(511-513)Gag>Aag p.E171K NM_002280 NP_002271 Q92764 KRT35_HUMAN Homo sapiens keratin 35 (KRT35), mRNA. 171 Coil 1B.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) TTGTCAATCTCCACCACCAGC 0.488000 20 146 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28602425 28602425 + Silent SNP C C T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr18:28602425C>T uc002kwj.4 - 6 974 c.819G>A c.(817-819)ccG>ccA p.P273P DSC3_uc002kwi.4_Silent_p.P273P NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 273 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GCATTGTGTCCGGTTCATCTC 0.438000 22 34 0 0 1 0 0 TMEM53 79639 broad.mit.edu 37 1 45120353 45120353 + Missense_Mutation SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr1:45120353G>A uc001cmc.3 - 2 748 c.712C>T c.(712-714)Cgc>Tgc p.R238C TMEM53_uc001cmd.3_Missense_Mutation_p.R165C|TMEM53_uc009vxh.1_Missense_Mutation_p.R121C|TMEM53_uc010ola.1_Missense_Mutation_p.R121C NM_024587 NP_078863 Q6P2H8 TMM53_HUMAN Homo sapiens transmembrane protein 53 (TMEM53), mRNA. 238 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) AGGACCCGGCGTGCCAGGCGT 0.602000 31 48 0 0 1 0 0 FAM187B 148109 broad.mit.edu 37 19 35719205 35719205 + Missense_Mutation SNP G G A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr19:35719205G>A uc002nyk.1 - 0 424 c.379C>T c.(379-381)Ccc>Tcc p.P127S NM_152481 NP_689694 Q17R55 F187B_HUMAN Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA. 127 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 9 TTCTGCAGGGGCCTCTGACCC 0.562000 48 72 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347139 48347139 + Missense_Mutation SNP A A G TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr11:48347139A>G uc010rhv.2 + 0 647 c.647A>G c.(646-648)aAt>aGt p.N216S NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GCCTGCACCAATACGTATGTC 0.507000 10 37 0 0 1 0 0 IGKV1-12 28940 broad.mit.edu 37 22 17385392 17385392 + RNA SNP T T A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr22:17385392T>A uc011agg.1 - 0 c.4A>T Homo sapiens isolate N1858K immunoglobulin kappa light chain variable region (IGKV1-12) mRNA, partial cds. GTCATCTGGATGTCACATCTG 0.453000 8 124 0 0 1 0 0 CT45A5 441521 broad.mit.edu 37 X 134947928 134947928 + Missense_Mutation SNP C C G TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chrX:134947928C>G uc004eze.3 - 2 642 c.397G>C c.(397-399)Gaa>Caa p.E133Q CT45A5_uc022ces.1_Missense_Mutation_p.E133Q|CT45A5_uc011mvu.2_Missense_Mutation_p.E133Q NM_001007551 NP_001165759 Q6NSH3 CT455_HUMAN Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA. 133 p.E133*(2) endometrium(1)|large_intestine(2)|lung(6) 9 CATCGGATTTCCTTCACTACT 0.388000 35 57 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 27 0 0 1 0 0 TTC39C 125488 broad.mit.edu 37 18 21660663 21660663 + Nonsense_Mutation SNP T T A TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chr18:21660663T>A uc002kuw.3 + 4 1027 c.575T>A c.(574-576)tTg>tAg p.L192* TTC39C_uc002kuu.3_Nonsense_Mutation_p.L131* NM_001135993 NP_694943 Q8N584 TT39C_HUMAN Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA. 192 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 GAAGAGTCCTTGACTTCTGAT 0.448000 24 44 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 106016280 106016281 + Frame_Shift_Ins INS - - T TCGA-ET-A3BT-01A-11D-A19J-08 TCGA-ET-A3BT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd99f617-2855-4379-ab0f-87b67b471767 0f39fc31-07ab-4d8d-9bd2-510277dd467a g.chrX:106016280_106016281insT uc004eml.3 + 1 872_873 c.622_623insT c.(622-624)attfs p.I208fs RNF128_uc004emk.3_Frame_Shift_Ins_p.I182fs NM_194463 NP_919445 Q8TEB7 RN128_HUMAN Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA. 208 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 TCACTATTCAATTTTTTTCGTT 0.391 49 90 --- --- --- ---