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 HERC1 8925 broad.mit.edu 37 15 63991137 63991137 + Silent SNP G G A TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr15:63991137G>A ENST00000443617.2 - 26 4782 c.4695C>T c.(4693-4695)agC>agT p.S1565S RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1565 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ACCAGTCTCTGCTATGTTTCA 0.393000 4 112 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73471770 73471770 + Silent SNP A A G TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr7:73471770A>G ENST00000358929.4 + 22 1507 c.1416A>G c.(1414-1416)ccA>ccG p.P472P ELN_ENST00000414324.1_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000380584.4_Intron P15502 ELN_HUMAN elastin 472 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GCGCAGTCCCAGGTGTGCCGG 0.632000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 5 16 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 94 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr17:47696432A>C ENST00000393331.3 - 7 861 c.391T>G c.(391-393)Tgg>Ggg p.W131G SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458000 Prostate(2;0.17) 50 92 0 0 1 0 0 CWH43 80157 broad.mit.edu 37 4 49034677 49034677 + Missense_Mutation SNP G G A TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr4:49034677G>A ENST00000226432.4 + 12 1786 c.1603G>A c.(1603-1605)Gtt>Att p.V535I CWH43_ENST00000513409.1_Missense_Mutation_p.V508I NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 535 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 CACATTGACCGTTAACATTTC 0.463000 4 188 0 0 1 0 0 C9orf91 203197 broad.mit.edu 37 9 117405508 117405508 + Missense_Mutation SNP C C G TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr9:117405508C>G ENST00000374049.4 + 9 1384 c.947C>G c.(946-948)aCg>aGg p.T316R C9orf91_ENST00000288502.4_Missense_Mutation_p.T315R NM_153045.3 NP_694590.2 Q5VZI3 CI091_HUMAN chromosome 9 open reading frame 91 315 integral to membrane endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 13 ACACGACACACGAACTCTCCG 0.587000 23 72 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6690256 6690256 + Missense_Mutation SNP G G A TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr17:6690256G>A ENST00000321535.4 + 3 1311 c.1181G>A c.(1180-1182)tGt>tAt p.C394Y NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 394 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 GAACGGCAGTGTGCCCTGCGT 0.512000 34 56 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54777747 54777747 + Missense_Mutation SNP G G T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chrX:54777747G>T ENST00000218436.6 - 12 3448 c.3419C>A c.(3418-3420)aCc>aAc p.T1140N NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1140 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CTGGAAGTAGGTGCGAGTCTG 0.607000 28 3 1.33986e-20 1.47058e-20 1 1 0 APOL4 80832 broad.mit.edu 37 22 36587725 36587725 + Missense_Mutation SNP T T C TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr22:36587725T>C ENST00000332987.1 - 7 864 c.442A>G c.(442-444)Atc>Gtc p.I148V APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.I151V Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 152 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 ACAGACAGGATGCCAGTGGAG 0.532000 11 18 0 0 1 0 0 BRIX1 55299 broad.mit.edu 37 5 34925038 34925038 + Silent SNP A A G TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr5:34925038A>G ENST00000336767.5 + 9 1113 c.750A>G c.(748-750)ggA>ggG p.G250G BRIX1_ENST00000506023.1_3'UTR NM_018321.3 NP_060791.3 Q8TDN6 BRX1_HUMAN BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) 250 ribosome biogenesis|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(1)|large_intestine(2)|lung(1) 4 GTTTTGGAGGACCAACTTTAT 0.378000 27 38 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75843162 75843162 + Nonsense_Mutation SNP G G T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr10:75843162G>T ENST00000211998.4 + 8 1007 c.913G>T c.(913-915)Gaa>Taa p.E305* VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Nonsense_Mutation_p.E305*|VCL_ENST00000417648.2_Intron NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 305 3 X 112 AA tandem repeats.|N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) GATCTTAGATGAAGCTGGAAA 0.428000 21 40 9.39395e-14 1.00649e-13 1 1 0 DCXR 51181 broad.mit.edu 37 17 79993878 79993878 + Silent SNP C C T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr17:79993878C>T ENST00000306869.2 - 8 742 c.693G>A c.(691-693)acG>acA p.T231T NM_001195218.1|NM_016286.3 NP_001182147.1|NP_057370.1 Q7Z4W1 DCXR_HUMAN dicarbonyl/L-xylulose reductase 231 D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process membrane binding|L-xylulose reductase (NADP+) activity kidney(1)|lung(3) 4 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AAGTGGAACCCGTGGTCATGC 0.622000 5 83 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644064 53644064 + Missense_Mutation SNP T T C TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr19:53644064T>C ENST00000452676.2 - 5 2446 c.2020A>G c.(2020-2022)Aga>Gga p.R674G ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GTATGAACTCTCCGATGTCTT 0.428000 5 147 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202538279 202538279 + Missense_Mutation SNP G G C TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr1:202538279G>C ENST00000406302.3 + 23 2969 c.2816G>C c.(2815-2817)aGg>aCg p.R939T PPP1R12B_ENST00000391959.3_Missense_Mutation_p.R165T|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R939T|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.R165T NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 939 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) AAACAGGAGAGGCGAGCCTTG 0.443000 28 48 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21208397 21208397 + Missense_Mutation SNP G G A rs148612005 byFrequency TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr17:21208397G>A ENST00000342679.4 + 9 980 c.731G>A c.(730-732)gGc>gAc p.G244D MAP2K3_ENST00000316920.6_Missense_Mutation_p.G215D|MAP2K3_ENST00000361818.5_Missense_Mutation_p.G215D NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 244 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) AACCAGAAGGGCTACAATGTC 0.637000 16 120 0 0 1 0 0 IMPAD1 54928 broad.mit.edu 37 8 57878868 57878868 + Silent SNP A A G TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr8:57878868A>G ENST00000262644.4 - 4 948 c.690T>C c.(688-690)tcT>tcC p.S230S NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 230 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) CATTGTAGGAAGAGCGGGCTT 0.418000 25 84 0 0 1 0 0 USP47 55031 broad.mit.edu 37 11 11957962 11957962 + Missense_Mutation SNP G G A TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr11:11957962G>A ENST00000339865.5 + 16 2541 c.1778G>A c.(1777-1779)gGg>gAg p.G593E USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.G681E|USP47_ENST00000527733.1_Missense_Mutation_p.G661E NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 681 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) ACACCAATGGGGCTTCTACTA 0.423000 32 70 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5462222 5462222 + Silent SNP A A G TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr5:5462222A>G ENST00000296564.7 + 13 2997 c.2775A>G c.(2773-2775)tcA>tcG p.S925S NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 925 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AAAGCATTTCACCAGAAGTTT 0.398000 11 28 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48027960 48027960 + Missense_Mutation SNP A A C TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr2:48027960A>C ENST00000234420.4 + 4 2990 c.2838A>C c.(2836-2838)gaA>gaC p.E946D MSH6_ENST00000538136.1_Missense_Mutation_p.E644D|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.E816D NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 946 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ACATAAGAGAAAATGAACAGA 0.458000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 12 29 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485584 57485584 + Missense_Mutation SNP C C T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr12:57485584C>T ENST00000300131.3 + 2 1138 c.760C>T c.(760-762)Cgg>Tgg p.R254W NAB2_ENST00000342556.6_Missense_Mutation_p.R254W|NAB2_ENST00000357680.4_Missense_Mutation_p.R254W|NAB2_ENST00000554718.1_3'UTR NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 254 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GAGGATCTTCCGGAGCTTCCC 0.592000 51 65 0 0 1 0 0 TRIM72 493829 broad.mit.edu 37 16 31226130 31226130 + Missense_Mutation SNP C C T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr16:31226130C>T ENST00000322122.3 + 2 355 c.71C>T c.(70-72)cCc>cTc p.P24L NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 24 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 TTCGACGCGCCCGTGACAGCC 0.721000 6 15 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46316920 46316920 + Silent SNP A A C TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr12:46316920A>C ENST00000465950.1 - 3 4188 c.2979T>G c.(2977-2979)tcT>tcG p.S993S SCAF11_ENST00000419565.2_Silent_p.S1308S|SCAF11_ENST00000369367.3_Silent_p.S1308S|SCAF11_ENST00000549162.1_Silent_p.S1116S|SCAF11_ENST00000550629.1_5'UTR Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1308 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TACTTACATGAGAAGAACTAG 0.378000 31 55 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52361704 52361704 + Missense_Mutation SNP C C T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr5:52361704C>T ENST00000296585.5 + 15 1983 c.1840C>T c.(1840-1842)Cat>Tat p.H614Y NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 614 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CTTTAGGAGCCATCTCCAGTA 0.453000 43 15 0 0 1 0 0 TMBIM6 7009 broad.mit.edu 37 12 50149485 50149485 + Missense_Mutation SNP A A G TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr12:50149485A>G ENST00000423828.1 + 4 735 c.407A>G c.(406-408)cAt>cGt p.H136R TMBIM6_ENST00000547798.1_Missense_Mutation_p.H41R|TMBIM6_ENST00000552699.1_Missense_Mutation_p.H136R|TMBIM6_ENST00000267115.5_Missense_Mutation_p.H78R|TMBIM6_ENST00000395006.4_Missense_Mutation_p.H78R|TMBIM6_ENST00000549385.1_Missense_Mutation_p.H78R NM_001098576.1 NP_001092046.1 P55061 BI1_HUMAN transmembrane BAX inhibitor motif containing 6 78 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 6 CCTCATAGCCATGAAACTGAA 0.428000 94 121 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098909 11098909 + RNA SNP C C T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr21:11098909C>T ENST00000470054.1 - 0 16 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agcagctcagcgggagatacc 0.587000 3 12 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961838 34961838 + Missense_Mutation SNP C C T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chrX:34961838C>T ENST00000329357.5 + 1 926 c.890C>T c.(889-891)cCg>cTg p.P297L NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 297 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CATCTCCACCCGGAGCCTCCT 0.632000 39 14 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 96 0 0 1 0 0 MARCH4 57574 broad.mit.edu 37 2 217124081 217124081 + Missense_Mutation SNP G G A TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr2:217124081G>A ENST00000273067.4 - 4 2953 c.1187C>T c.(1186-1188)cCc>cTc p.P396L NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 396 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GCTGCCTGGGGGACTTCGCTG 0.617000 24 63 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 50 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16892268 16892268 + Missense_Mutation SNP G G C TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr1:16892268G>C ENST00000430580.2 - 27 3811 c.2924C>G c.(2923-2925)cCt>cGt p.P975R NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 975 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAAGACTTCAGGCTCTACTGC 0.488000 38 689 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 8 101 0 0 1 0 0 KLHL28 54813 broad.mit.edu 37 14 45403573 45403573 + Missense_Mutation SNP G G T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr14:45403573G>T ENST00000396128.4 - 3 1207 c.1088C>A c.(1087-1089)aCa>aAa p.T363K KLHL28_ENST00000355081.2_Missense_Mutation_p.T377K NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 363 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CCAAGTATTTGTATCAGGATT 0.398000 19 80 3.32936e-07 3.48421e-07 1 1 0 CCDC85A 114800 broad.mit.edu 37 2 56599555 56599555 + Missense_Mutation SNP G G A TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr2:56599555G>A ENST00000407595.2 + 4 1896 c.1394G>A c.(1393-1395)cGg>cAg p.R465Q RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 465 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AGAGCCCGGCGGGTCTTGCAG 0.522000 3 6 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50994336 50994336 + Missense_Mutation SNP G G A TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr18:50994336G>A ENST00000442544.2 + 25 4308 c.3692G>A c.(3691-3693)cGg>cAg p.R1231Q DCC_ENST00000581580.1_Missense_Mutation_p.R866Q NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1231 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CGAGCCCCCCGGGCCAAGCTC 0.493000 24 39 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 5 113 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207644418 207644418 + Frame_Shift_Del DEL T T - TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr1:207644418delT ENST00000367057.3 + 8 1668 c.1479delT c.(1477-1479)tcfs p.S494fs CR2_ENST00000367059.3_Frame_Shift_Del_p.S494fs|CR2_ENST00000367058.3_Frame_Shift_Del_p.S494fs|CR2_ENST00000458541.2_Frame_Shift_Del_p.S494fs NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 494 Sushi 8. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 ATGTCAACTCTTCTTGTGGTG 0.468 51 71 --- --- --- --- PIKFYVE 200576 broad.mit.edu 37 2 209204848 209204848 + Frame_Shift_Del DEL T T - TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr2:209204848delT ENST00000264380.4 + 31 5082 c.4924delT c.(4924-4926)ttfs p.F1642fs NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1642 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TCCTATTCCATTTCCTTTGTA 0.373 46 78 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 9 118 --- --- --- --- UBLCP1 134510 broad.mit.edu 37 5 158697638 158697638 + Frame_Shift_Del DEL T T - TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr5:158697638delT ENST00000296786.6 + 5 761 c.435delT c.(433-435)gafs p.D145fs NM_145049.3 NP_659486.2 Q8WVY7 UBCP1_HUMAN ubiquitin-like domain containing CTD phosphatase 1 145 FCP1 homology. nucleus phosphoprotein phosphatase activity endometrium(1)|kidney(3)|large_intestine(4)|ovary(1) 9 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAGATGTTGATTATACATTAT 0.323 16 27 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7191583 7191584 + RNA DEL AC AC - TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr8:7191583_7191584delAC ENST00000606573.1 - 0 703 acgcacgcaaacacacacacac 0.510 3 5 --- --- --- --- FER1L6 654463 broad.mit.edu 37 8 125047624 125047628 + Frame_Shift_Del DEL TAGGC TAGGC - TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr8:125047624_125047628delTAGGC ENST00000522917.1 + 19 2599_2603 c.2393_2397delTAGGC c.(2392-2397)gfs p.VG798fs FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.VG798fs NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 798 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AACTTGCCAGTAGGCTATGAAGCAG 0.556 12 68 --- --- --- --- TTF1 7270 broad.mit.edu 37 9 135254513 135254514 + Frame_Shift_Ins INS - - T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr9:135254513_135254514insT ENST00000334270.2 - 10 2435_2436 c.2396_2397insA c.(2395-2397)tgtfs p.C799fs TTF1_ENST00000461970.1_5'UTR NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 799 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TAGTTTGAACGTAAGATGGAGG 0.297 28 43 --- --- --- --- ZDHHC8P1 0 broad.mit.edu 37 22 23744098 23744098 + RNA DEL G G - TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e54ecf05-37ff-4c12-8ea9-5c8f2ce9b32f 1ed242e5-cb06-4cb6-b21f-fef81d717693 g.chr22:23744098delG ENST00000255890.4 - 0 368 GGCAGGCGTCGGGGGGTGGCG 0.632 2 4 --- --- --- ---