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 ZBTB40 9923 broad.mit.edu 37 1 22835047 22835047 + Missense_Mutation SNP G T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr1:22835047G>T uc001bft.2 + 9 2033 c.1522G>T c.(1522-1524)GAC>TAC p.D508Y ZBTB40_uc001bfu.2_Missense_Mutation_p.D508Y|ZBTB40_uc009vqi.1_Missense_Mutation_p.D396Y|ZBTB40_uc001bfv.1_Missense_Mutation_p.D137Y NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 508 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TGTGAAACGTGACTCTGGTTC 0.483 HMCN1 83872 broad.mit.edu 37 1 186121993 186121993 + Missense_Mutation SNP T G G TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr1:186121993T>G uc001grq.1 + 96 15237 c.15008T>G c.(15007-15009)GTC>GGC p.V5003G HMCN1_uc001grs.1_Missense_Mutation_p.V572G NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5003 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CCTGCTGAAGTCACTGTAAAG 0.438 OBSCN 84033 broad.mit.edu 37 1 228559651 228559651 + Missense_Mutation SNP C T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr1:228559651C>T uc009xez.1 + 94 21216 c.21172C>T c.(21172-21174)CCT>TCT p.P7058S OBSCN_uc001hsr.1_Missense_Mutation_p.P1687S NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 7058 Pro-rich. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CCCATGCCCTCCTGGCTCCTT 0.672 KIAA1804 84451 broad.mit.edu 37 1 233518426 233518426 + Missense_Mutation SNP T C C TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr1:233518426T>C uc001hvt.3 + 10 3341 c.3080T>C c.(3079-3081)ATA>ACA p.I1027T KIAA1804_uc001hvu.3_Missense_Mutation_p.I473T NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 1027 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) CGGCCATCTATATATGAACTG 0.428 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 PTPRE 5791 broad.mit.edu 37 10 129861345 129861345 + Splice_Site SNP A T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr10:129861345A>T uc001lkb.2 + 10 905 c.626_splice c.e10-2 p.G209_splice PTPRE_uc009yat.2_Splice_Site_p.G220_splice|PTPRE_uc010qup.1_Splice_Site|PTPRE_uc009yau.2_Splice_Site_p.G209_splice|PTPRE_uc001lkd.2_Splice_Site_p.G151_splice|PTPRE_uc010quq.1_Splice_Site_p.G110_splice NM_006504 NP_006495 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(1) 1 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CTCTACACACAGGTCCCAAAC 0.522 MEN1 4221 broad.mit.edu 37 11 64575521 64575521 + Nonsense_Mutation SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr11:64575521G>A uc001obj.2 - 3 584 c.511C>T c.(511-513)CAG>TAG p.Q171* MEN1_uc001obk.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obl.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obm.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obn.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obo.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obp.2_Nonsense_Mutation_p.Q166*|MEN1_uc001obq.2_Nonsense_Mutation_p.Q171*|MEN1_uc001obr.2_Nonsense_Mutation_p.Q171* NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 171 Missing (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.R171Q(1) parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 CCCAGGGCCTGGCAGGCCCCA 0.602 D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 KRTAP5-11 440051 broad.mit.edu 37 11 71293418 71293418 + Missense_Mutation SNP T G G TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr11:71293418T>G uc001oqu.2 - 1 504 c.466A>C c.(466-468)ATC>CTC p.I156L NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 156 keratin filament 0 GAGCCTCAGATCTTACACTGG 0.308 INPPL1 3636 broad.mit.edu 37 11 71942586 71942586 + Frame_Shift_Del DEL C - - TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr11:71942586delC uc001osf.2 + 13 1689 c.1542delC c.(1540-1542)GTCfs p.V514fs INPPL1_uc001osg.2_Frame_Shift_Del_p.V272fs NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 514 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 CAGTGCTGGTCAAGCCAGAGC 0.567 RAB30 27314 broad.mit.edu 37 11 82693315 82693315 + Silent SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr11:82693315G>A uc001ozu.2 - 6 765 c.504C>T c.(502-504)TGC>TGT p.C168C RAB30_uc009yve.2_Silent_p.C166C|RAB30_uc010rst.1_Silent_p.C166C|RAB30_uc001ozv.2_3'UTR NM_014488 NP_055303 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 168 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity 0 TGATGAGTCGGCATGCTAAGT 0.438 SESN3 143686 broad.mit.edu 37 11 94924753 94924756 + Frame_Shift_Del DEL TTGC - - TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr11:94924753_94924756delTTGC uc001pfk.1 - 3 376_379 c.154_157delGCAA c.(154-159)GCAAACfs p.A52fs SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.2_Frame_Shift_Del_p.A52fs NM_144665 NP_653266 P58005 SESN3_HUMAN sestrin 3 52_53 cell cycle arrest nucleus 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TCCACTGTGTTTGCTTGGACAACC 0.368 HELB 92797 broad.mit.edu 37 12 66698566 66698566 + Silent SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr12:66698566G>A uc001sti.2 + 2 271 c.243G>A c.(241-243)CCG>CCA p.P81P HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 81 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GACGTTTTCCGATAACAGGTG 0.378 CABP1 9478 broad.mit.edu 37 12 121098105 121098105 + Missense_Mutation SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr12:121098105G>A uc001tyu.2 + 3 859 c.792G>A c.(790-792)ATG>ATA p.M264I CABP1_uc001tyv.2_Missense_Mutation_p.M121I|CABP1_uc001tyw.2_Missense_Mutation_p.M61I|CABP1_uc001tyx.2_Missense_Mutation_p.M106I NM_001033677 NP_001028849 Q9NZU7 CABP1_HUMAN calcium binding protein 1 isoform 3 264 EF-hand 2. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCACCGAGATGGAGCTCATCG 0.542 HERC2 8924 broad.mit.edu 37 15 28389261 28389261 + Missense_Mutation SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr15:28389261G>A uc001zbj.2 - 73 11367 c.11261C>T c.(11260-11262)GCG>GTG p.A3754V NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3754 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAGCGAGGCCGCAAGGCGAGG 0.537 WASH3P 374666 broad.mit.edu 37 15 102515344 102515344 + Missense_Mutation SNP A C C rs141089280 by1000genomes TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr15:102515344A>C uc002cdi.2 + 9 1988 c.568A>C c.(568-570)AAG>CAG p.K190Q WASH3P_uc002cdl.2_Missense_Mutation_p.K190Q|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.K190Q|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 GCTGGAGAAGAAGCAGCAGAA 0.662 MRPS34 65993 broad.mit.edu 37 16 1823074 1823075 + Frame_Shift_Ins INS - G G TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr16:1823074_1823075insG uc002cmo.2 - 1 66_67 c.46_47insC c.(46-48)CGCfs p.R16fs NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmp.1_Frame_Shift_Ins_p.R16fs|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank NM_023936 NP_076425 P82930 RT34_HUMAN mitochondrial ribosomal protein S34 16 mitochondrion|ribosome protein binding skin(2) 2 GCGCACGCGGCGGGCCAGCTCC 0.723 RNF40 9810 broad.mit.edu 37 16 30774843 30774843 + Silent SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr16:30774843G>A uc002dzq.2 + 4 528 c.405G>A c.(403-405)GGG>GGA p.G135G C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Silent_p.G135G|RNF40_uc010cab.2_Silent_p.G135G|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.G135G|RNF40_uc010vfb.1_Intron NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 135 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) CATGTGATGGGACTCCTCTCC 0.612 KRTAP1-1 81851 broad.mit.edu 37 17 39197186 39197186 + Missense_Mutation SNP C T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr17:39197186C>T uc002hvw.1 - 1 528 c.464G>A c.(463-465)CGC>CAC p.R155H NM_030967 NP_112229 Q07627 KRA11_HUMAN keratin associated protein 1-1 155 extracellular region|keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GTAGGATGGGCGGCAGCAGGA 0.637 C19orf10 56005 broad.mit.edu 37 19 4668644 4668644 + Missense_Mutation SNP C T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr19:4668644C>T uc002may.2 - 2 257 c.188G>A c.(187-189)TGT>TAT p.C63Y NM_019107 NP_061980 Q969H8 CS010_HUMAN hypothetical protein LOC56005 precursor 63 ER-Golgi intermediate compartment|extracellular region 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015) AGTGAACATACACGTATATTT 0.313 ZNF317 57693 broad.mit.edu 37 19 9267420 9267420 + Missense_Mutation SNP C T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr19:9267420C>T uc002mku.2 + 3 433 c.158C>T c.(157-159)TCC>TTC p.S53F ZNF317_uc010xkm.1_Silent_p.F94F|ZNF317_uc002mkv.2_5'UTR|ZNF317_uc002mkw.2_Missense_Mutation_p.S53F|ZNF317_uc002mkx.2_5'UTR|ZNF317_uc002mky.2_5'UTR NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTGTTGGTTCCCAGGTGCAC 0.527 MAN2B1 4125 broad.mit.edu 37 19 12763065 12763065 + Missense_Mutation SNP C G G TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr19:12763065C>G uc002mub.2 - 16 2024 c.1948G>C c.(1948-1950)GAC>CAC p.D650H MAN2B1_uc010dyv.1_Missense_Mutation_p.D649H NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 650 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 CTTTCGTTGTCACCTATACTG 0.597 TMEM147 10430 broad.mit.edu 37 19 36037641 36037641 + Missense_Mutation SNP C T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr19:36037641C>T uc002oaj.1 + 4 372 c.275C>T c.(274-276)GCC>GTC p.A92V uc010eec.1_5'Flank|uc002oag.2_5'Flank|TMEM147_uc002oai.1_Missense_Mutation_p.A43V|TMEM147_uc002oak.1_Missense_Mutation_p.P2S NM_032635 NP_116024 Q9BVK8 TM147_HUMAN transmembrane protein 147 92 endoplasmic reticulum membrane|integral to membrane protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCCCGGAATGCCGGCAAGGGA 0.572 EXOSC5 56915 broad.mit.edu 37 19 41895788 41895788 + Missense_Mutation SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr19:41895788G>A uc002oqo.2 - 4 430 c.407C>T c.(406-408)GCC>GTC p.A136V CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron NM_020158 NP_064543 Q9NQT4 EXOS5_HUMAN exosome component Rrp46 136 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding 0 CATGCAGGCGGCATTCAGACA 0.448 NLRP5 126206 broad.mit.edu 37 19 56539217 56539217 + Missense_Mutation SNP T A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr19:56539217T>A uc002qmj.2 + 7 1618 c.1618T>A c.(1618-1620)TGG>AGG p.W540R NLRP5_uc002qmi.2_Missense_Mutation_p.W521R NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 540 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GGAGGGAGTGTGGAATAGGAA 0.552 FIGN 55137 broad.mit.edu 37 2 164467616 164467616 + Silent SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr2:164467616G>A uc002uck.1 - 3 1037 c.726C>T c.(724-726)CTC>CTT p.L242L NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 242 Pro-rich. nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TGTAACTGGAGAGGTTAGAAG 0.612 SNRPB 6628 broad.mit.edu 37 20 2443779 2443779 + Missense_Mutation SNP C T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr20:2443779C>T uc002wfz.1 - 5 678 c.515G>A c.(514-516)CGT>CAT p.R172H SNRPB_uc002wga.1_Missense_Mutation_p.R172H|SNRPB_uc010zpv.1_Missense_Mutation_p.R93H|SNRPB_uc002wgb.2_Missense_Mutation_p.R172H|SNORD119_uc010gam.1_5'Flank NM_198216 NP_937859 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptide B/B' 172 RG -> L (in Ref. 4). histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|protein binding|RNA binding ovary(1) 1 AGGACCCCCACGGCCAGGTGG 0.597 SENP5 205564 broad.mit.edu 37 3 196613120 196613120 + Nonsense_Mutation SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr3:196613120G>A uc003fwz.3 + 2 1317 c.1068G>A c.(1066-1068)TGG>TGA p.W356* SENP5_uc011bty.1_Nonsense_Mutation_p.W356* NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 356 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) CAAACGCCTGGGACCAGTCAT 0.468 OR2J2 26707 broad.mit.edu 37 6 29142195 29142195 + Silent SNP C G G TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr6:29142195C>G uc011dlm.1 + 1 885 c.783C>G c.(781-783)CTC>CTG p.L261L NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCATGTATCTCCAGCCACCAT 0.433 MUC17 140453 broad.mit.edu 37 7 100677921 100677921 + Missense_Mutation SNP C T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr7:100677921C>T uc003uxp.1 + 3 3277 c.3224C>T c.(3223-3225)ACT>ATT p.T1075I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1075 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16. 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) CCTGTGACCACTTATTCTCAA 0.488 EPHA1 2041 broad.mit.edu 37 7 143098437 143098437 + Nonsense_Mutation SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr7:143098437G>A uc003wcz.2 - 3 499 c.412C>T c.(412-414)CGA>TGA p.R138* NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 138 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) AAGGGCCGTCGGAGCTGAATG 0.592 ATP6V1C1 528 broad.mit.edu 37 8 104075258 104075258 + Missense_Mutation SNP C G G TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr8:104075258C>G uc003ykz.3 + 9 962 c.717C>G c.(715-717)CAC>CAG p.H239Q ATP6V1C1_uc010mbz.2_Missense_Mutation_p.H164Q|ATP6V1C1_uc003yla.2_Missense_Mutation_p.H239Q|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.H164Q NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 239 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) ACTTCAGACACAAAGCCAGAG 0.328 LRRC6 23639 broad.mit.edu 37 8 133645122 133645122 + Missense_Mutation SNP C T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr8:133645122C>T uc003ytk.2 - 5 591 c.517G>A c.(517-519)GAA>AAA p.E173K LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 173 cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGATCTTTTTCCTGCTCTCTG 0.398 CDKN2B 1030 broad.mit.edu 37 9 22006044 22006044 + Missense_Mutation SNP G T T TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr9:22006044G>T uc003zpo.2 - 2 719 c.359C>A c.(358-360)GCC>GAC p.A120D MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR NM_004936 NP_004927 P42772 CDN2B_HUMAN cyclin-dependent kinase inhibitor 2B isoform 1 120 ANK 4. cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding lung(1) 1 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143) CCGCTCCTCGGCCAAGTCCAC 0.701 Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System CDKN2B 1030 broad.mit.edu 37 9 22006068 22006068 + Missense_Mutation SNP C A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chr9:22006068C>A uc003zpo.2 - 2 695 c.335G>T c.(334-336)TGG>TTG p.W112L MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR NM_004936 NP_004927 P42772 CDN2B_HUMAN cyclin-dependent kinase inhibitor 2B isoform 1 112 ANK 4. cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding lung(1) 1 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143) CAGACGACCCCAGGCATCGCG 0.726 Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System OTC 5009 broad.mit.edu 37 X 38260629 38260629 + Missense_Mutation SNP T C C TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chrX:38260629T>C uc004def.3 + 5 702 c.488T>C c.(487-489)CTG>CCG p.L163P NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor 163 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) ATCAATGGGCTGTCAGATTTG 0.408 HUWE1 10075 broad.mit.edu 37 X 53569470 53569470 + Missense_Mutation SNP G A A TCGA-28-5218-01A-01D-1486-08 TCGA-28-5218-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 68008a98-3889-4dd2-bcf9-f1f6cbca6355 727e8e46-718d-4e44-96a1-ed3544500a07 g.chrX:53569470G>A uc004dsp.2 - 74 11812 c.11410C>T c.(11410-11412)CGG>TGG p.R3804W HUWE1_uc004dsn.2_Missense_Mutation_p.R2612W|HUWE1_uc004dsq.1_Missense_Mutation_p.R104W NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3804 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TCCTCCCTCCGGACAGACGCC 0.502