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 ZNF461 92283 broad.mit.edu 37 19 37129608 37129608 + Missense_Mutation SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr19:37129608C>T uc002oem.3 - 5 1867 c.1639G>A c.(1639-1641)Gag>Aag p.E547K ZNF461_uc002oen.3_Missense_Mutation_p.E516K|ZNF461_uc010xtj.2_Missense_Mutation_p.E524K NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN Homo sapiens zinc finger protein 461 (ZNF461), mRNA. 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ACTGGCTTCTCGCCAGTATGA 0.383000 3 27 0 0 1 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38345558 38345558 + Missense_Mutation SNP C C G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr17:38345558C>G uc010cwu.1 + 5 917 c.427C>G c.(427-429)Ctt>Gtt p.L143V RAPGEFL1_uc010wfd.1_Missense_Mutation_p.L79V NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA. 349 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GACGGAGAAACTTCAATATTC 0.552000 54 185 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201183351 201183351 + Silent SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr1:201183351G>A uc001gwc.3 + 12 8905 c.8775G>A c.(8773-8775)caG>caA p.Q2925Q IGFN1_uc001gwb.3_Non-coding_Transcript NM_001164586 NP_001158058 Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA. autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TGGAAGTGCAGCCGGGGGAGG 0.657000 10 28 0 0 1 0 0 ACSL3 2181 broad.mit.edu 37 2 223789308 223789308 + Silent SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:223789308C>T uc002vni.3 + 10 1738 c.1287C>T c.(1285-1287)tgC>tgT p.C429C ACSL3_uc002vnj.3_Silent_p.C429C NM_004457 NP_976251 O95573 ACSL3_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA. 429 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) CTCCACTGTGCGACAGGTAAG 0.323000 T ETV1 prostate 3 54 0 0 1 0 0 C3orf67 200844 broad.mit.edu 37 3 58849302 58849302 + Silent SNP G G T rs148755922 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr3:58849302G>T uc003dkt.1 - 11 1609 c.1200C>A c.(1198-1200)ggC>ggA p.G400G C3orf67_uc003dks.1_Silent_p.G215G|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Silent_p.G215G|C3orf67_uc003dkw.3_Silent_p.G295G NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA. 400 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) TGCTGTCGCCGCCGTAAAAAT 0.423000 6 35 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92471796 92471796 + Missense_Mutation SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr14:92471796C>T uc001xzy.3 - 10 2898 c.2524G>A c.(2524-2526)Gaa>Aaa p.E842K TRIP11_uc010auf.2_Missense_Mutation_p.E578K NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 842 transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTTAAAATTTCATTTTTTCTT 0.333000 T PDGFRB AML 5 74 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30744989 30744989 + Missense_Mutation SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr16:30744989G>A uc002dze.1 + 28 6749 c.6364G>A c.(6364-6366)Ggt>Agt p.G2122S SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.G1917S NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 2122 Helicase C-terminal. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCGGAGTGGGGGTGTGGGCGT 0.502000 10 114 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66472833 66472833 + Silent SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr11:66472833C>T uc001ojd.3 - 13 1986 c.1914G>A c.(1912-1914)gaG>gaA p.E638E NM_006946 NP_008877 O15020 SPTN2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA. 638 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GCCGTGATTCCTCCAGCCGGG 0.697000 5 33 0 0 1 0 0 CHI3L1 1116 broad.mit.edu 37 1 203148632 203148632 + Missense_Mutation SNP C C G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr1:203148632C>G uc001gzi.2 - 9 1264 c.1093G>C c.(1093-1095)Ggc>Cgc p.G365R CHI3L1_uc001gzk.1_3'UTR|CHI3L1_uc001gzj.2_Missense_Mutation_p.G304R|CHI3L1_uc001gzl.3_5'Flank NM_001276 NP_001267 P36222 CH3L1_HUMAN Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA. 365 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 AGATCCTGGCCACAGAAGGAG 0.637000 4 65 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121457748 121457748 + Missense_Mutation SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr8:121457748G>A uc003ypc.1 + 0 83 c.38G>A c.(37-39)gGa>gAa p.G13E MRPL13_uc003ypa.3_5'Flank|MRPL13_uc010mdf.3_5'Flank|MTBP_uc003ypb.1_Missense_Mutation_p.G13E|MTBP_uc011lie.1_Non-coding_Transcript NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA. 13 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TGGGGGGAAGGAAAATTCCCG 0.582000 11 89 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4924499 4924499 + Silent SNP T T G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr16:4924499T>G uc002cyb.3 + 14 2427 c.2088T>G c.(2086-2088)ccT>ccG p.P696P UBN1_uc010uxw.2_Silent_p.P696P|UBN1_uc002cyc.3_Silent_p.P696P NM_001079514 NP_058632 Q9NPG3 UBN1_HUMAN Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA. 696 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TCACACTGCCTGCACCCTCAA 0.498000 26 266 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88945377 88945377 + Missense_Mutation SNP C C G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr14:88945377C>G uc001xwv.4 - 12 2729 c.2398G>C c.(2398-2400)Gac>Cac p.D800H PTPN21_uc010twc.2_Missense_Mutation_p.D596H NM_007039 NP_008970 Q16825 PTN21_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA. 800 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GTGGTGAGGTCGGACTCCGAC 0.647000 8 62 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72938090 72938090 + Silent SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr17:72938090C>T uc010wrr.2 + 2 585 c.585C>T c.(583-585)gaC>gaT p.D195D OTOP3_uc010wrq.2_Silent_p.D177D NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN Homo sapiens otopetrin 3 (OTOP3), mRNA. 195 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CACAGCTGGACCTTGTCTTCT 0.567000 4 41 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8176174 8176174 + Silent SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr8:8176174G>A uc003wsh.4 - 4 3711 c.3711C>T c.(3709-3711)ccC>ccT p.P1237P NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 1237 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity ACACGATCTCGGGGGCCAGCC 0.612000 3 30 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 371211 371211 + Missense_Mutation SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr19:371211C>T uc002lol.3 - 5 790 c.747G>A c.(745-747)atG>atA p.M249I THEG_uc002lom.3_Missense_Mutation_p.M225I NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA. 249 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding p.P248L(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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) CCACCTCAGACATGGGCATGC 0.642000 26 147 0 0 1 0 0 CDC42 998 broad.mit.edu 37 1 22412941 22412941 + Missense_Mutation SNP A A T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr1:22412941A>T uc010odr.2 + 4 489 c.323A>T c.(322-324)gAt>gTt p.D108V CDC42_uc009vqg.1_Missense_Mutation_p.D63V|CDC42_uc001bfp.3_Missense_Mutation_p.D63V|CDC42_uc009vqh.3_Missense_Mutation_p.D22V|CDC42_uc001bfq.3_Missense_Mutation_p.D63V|CDC42_uc001bfr.3_Missense_Mutation_p.D63V|CDC42_uc010ods.2_Missense_Mutation_p.D105V NM_001039802 NP_001782 P60953 CDC42_HUMAN Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA. 63 T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) GGGCAAGAGGATTATGACAGA 0.373000 14 69 0 0 1 0 0 VMO1 284013 broad.mit.edu 37 17 4689488 4689488 + Missense_Mutation SNP G G A rs147226483 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr17:4689488G>A uc002fyx.3 - 0 242 c.160C>T c.(160-162)Ccc>Tcc p.P54S VMO1_uc010vsh.2_Missense_Mutation_p.P54S|VMO1_uc010vsi.2_Missense_Mutation_p.P54S|VMO1_uc002fyy.3_Missense_Mutation_p.P54S|GLTPD2_uc002fza.2_5'Flank NM_182566 NP_872372 Q7Z5L0 VMO1_HUMAN Homo sapiens vitelline membrane outer layer 1 homolog (chicken) (VMO1), transcript variant 1, mRNA. 54 vitelline membrane formation extracellular region kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1) 11 AATCCATCGGGACACATCTCA 0.622000 8 32 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79581669 79581669 + Missense_Mutation SNP G G T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr10:79581669G>T uc001jzk.3 - 14 2643 c.2573C>A c.(2572-2574)cCa>cAa p.P858Q DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.P462Q NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 858 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGGGGGGCCTGGCTCCTTCCT 0.592000 10 94 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676134 37676134 + Missense_Mutation SNP C C G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr19:37676134C>G uc002ofq.3 - 4 2557 c.2305G>C c.(2305-2307)Gct>Cct p.A769P ZNF585B_uc002ofr.1_Missense_Mutation_p.A583P NM_152279 NP_689492 Q52M93 Z585B_HUMAN Homo sapiens zinc finger protein 585B (ZNF585B), mRNA. 769 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCTCTCAAGCGTGGCTGCTC 0.448000 8 91 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49052246 49052246 + Missense_Mutation SNP C C G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr17:49052246C>G uc002itc.3 - 27 3795 c.3586G>C c.(3586-3588)Gaa>Caa p.E1196Q SPAG9_uc002itd.3_Missense_Mutation_p.E1186Q|SPAG9_uc002itb.3_Missense_Mutation_p.E1182Q|SPAG9_uc002ita.3_Missense_Mutation_p.E1052Q NM_001130528 NP_001124000 O60271 JIP4_HUMAN Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA. 1196 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TCACTGTTTTCATCACCATAT 0.418000 5 61 0 0 1 0 0 TFPI 7035 broad.mit.edu 37 2 188332580 188332580 + Silent SNP A A G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:188332580A>G uc002upy.3 - 6 1003 c.708T>C c.(706-708)aaT>aaC p.N236N NM_006287 NP_006278 P10646 TFPI1_HUMAN Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA. 236 BPTI/Kunitz inhibitor 3. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) CAATGACTGAATTGTAGTAGA 0.413000 17 69 0 0 1 0 0 CHEK1 1111 broad.mit.edu 37 11 125513996 125513996 + Missense_Mutation SNP G G A rs34097480 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr11:125513996G>A uc010sbh.2 + 8 1607 c.982G>A c.(982-984)Gtg>Atg p.V328M CHEK1_uc009zbo.3_Missense_Mutation_p.V312M|CHEK1_uc010sbi.2_Missense_Mutation_p.V312M|CHEK1_uc001qcf.4_Missense_Mutation_p.V312M|CHEK1_uc009zbp.3_Missense_Mutation_p.V312M|CHEK1_uc001qcg.4_Missense_Mutation_p.V312M O14757 CHK1_HUMAN Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 5, non-coding RNA. 312 DNA repair|DNA replication|cellular response to mechanical stimulus|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 p.W328L(1) central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 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) TGAAGAAAATGTGAAGTACTC 0.388000 Other conserved DNA damage response genes 8 96 0 0 1 0 0 IMPDH2 3615 broad.mit.edu 37 3 49064023 49064023 + Missense_Mutation SNP G G C TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr3:49064023G>C uc003cvt.3 - 7 931 c.839C>G c.(838-840)tCc>tGc p.S280C NM_000884 NP_000875 P12268 IMDH2_HUMAN Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA. 280 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CTGGAAGATGGAATTTCCCTG 0.468000 5 78 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38166263 38166263 + Missense_Mutation SNP A A G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr13:38166263A>G uc001uwo.4 - 2 375 c.257T>C c.(256-258)aTg>aCg p.M86T POSTN_uc001uwp.4_Missense_Mutation_p.M86T|POSTN_uc001uwr.3_Missense_Mutation_p.M86T|POSTN_uc001uwq.3_Missense_Mutation_p.M86T|POSTN_uc010teu.1_Missense_Mutation_p.M86T|POSTN_uc010tev.1_Missense_Mutation_p.M86T|POSTN_uc010tew.1_Missense_Mutation_p.M86T|POSTN_uc010tex.1_Missense_Mutation_p.M1T NM_006475 NP_006466 Q15063 POSTN_HUMAN Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA. 86 EMI. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CATTCCTTCCATTCTCATATA 0.333000 4 45 0 0 1 0 0 CTDP1 9150 broad.mit.edu 37 18 77474796 77474796 + Missense_Mutation SNP A A G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr18:77474796A>G uc002lnh.2 + 7 1483 c.1336A>G c.(1336-1338)Acg>Gcg p.T446A CTDP1_uc002lni.2_Missense_Mutation_p.T446A|CTDP1_uc010drd.2_Missense_Mutation_p.T446A|CTDP1_uc021ult.1_Missense_Mutation_p.T327A NM_004715 NP_001189433 Q9Y5B0 CTDP1_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA. 446 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CCAGGGTGCCACGGGCACTGA 0.677000 4 8 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb 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 16 56 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142393652 142393652 + Missense_Mutation SNP A A C TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr5:142393652A>C uc011dbj.2 + 11 1150 c.1115A>C c.(1114-1116)aAc>aCc p.N372T ARHGAP26_uc003lmt.3_Missense_Mutation_p.N372T|ARHGAP26_uc003lmw.3_Missense_Mutation_p.N372T NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA. 372 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGGTCTACAACTCGAACAAA 0.423000 15 53 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74869018 74869018 + Missense_Mutation SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr17:74869018G>A uc002jti.3 + 0 290 c.187G>A c.(187-189)Gac>Aac p.D63N MGAT5B_uc002jtg.4_Missense_Mutation_p.D52N|MGAT5B_uc002jth.3_Missense_Mutation_p.D52N NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 52 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCGCCTGGGGGACTCGCCATT 0.602000 16 78 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431736 56431736 + Missense_Mutation SNP C C A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr11:56431736C>A uc010rjm.2 + 0 575 c.575C>A c.(574-576)aCc>aAc p.T192N OR8U8_uc001nit.2_Intron NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA. 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TGCTCAGACACCTACATCAGT 0.453000 22 150 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85552043 85552043 + Frame_Shift_Del DEL G G - TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:85552043delG uc021vjw.1 - 2 1637 c.1303delC c.(1303-1305)cagfs p.Q435fs TGOLN2_uc002spb.3_Frame_Shift_Del_p.Q377fs|TGOLN2_uc002soz.3_Frame_Shift_Del_p.Q435fs|TGOLN2_uc021vjx.1_Frame_Shift_Del_p.Q435fs|TGOLN2_uc002spa.3_Non-coding_Transcript|TGOLN2_uc002spc.2_Frame_Shift_Del_p.Q435fs NM_001206840 NP_001193769 O43493 TGON2_HUMAN Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA. 435 integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CTTACCTTCTGGTCCAAACGT 0.502 2 4 --- --- --- ---