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 CEP152 22995 broad.mit.edu 37 15 49054838 49054838 + Missense_Mutation SNP T C C TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr15:49054838T>C uc001zwy.2 - 18 2346 c.2312A>G c.(2311-2313)AAG>AGG p.K771R CEP152_uc001zwz.2_Missense_Mutation_p.K771R|CEP152_uc001zxa.1_Missense_Mutation_p.K678R NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 771 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CTGCCACTCCTTTTCAAGCTG 0.338 ABCC1 4363 broad.mit.edu 37 16 16101808 16101808 + Nonsense_Mutation SNP C T T TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr16:16101808C>T uc010bvi.2 + 2 359 c.184C>T c.(184-186)CGA>TGA p.R62* ABCC1_uc010bvj.2_Nonsense_Mutation_p.R62*|ABCC1_uc010bvk.2_Nonsense_Mutation_p.R62*|ABCC1_uc010bvl.2_Nonsense_Mutation_p.R62*|ABCC1_uc010bvm.2_Nonsense_Mutation_p.R62*|ABCC1_uc002del.3_5'Flank NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 62 Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCGACATGACCGAGGCTACAT 0.537 B4GALT6 9331 broad.mit.edu 37 18 29225320 29225320 + Missense_Mutation SNP T C C TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr18:29225320T>C uc002kwz.3 - 4 766 c.469A>G c.(469-471)AAG>GAG p.K157E B4GALT6_uc010dma.2_Missense_Mutation_p.K118E|B4GALT6_uc010dmb.2_Missense_Mutation_p.K157E NM_004775 NP_004766 Q9UBX8 B4GT6_HUMAN beta-1,4-galactosyltransferase 6 157 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(10;0.00791) TACCTCACCTTCCATCTGGGT 0.378 FRG1B 284802 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A T T TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr20:29625955A>T uc010ztl.1 + 2 141 c.109A>T c.(109-111)AGA>TGA p.R37* FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 AATTGGACCAAGAGAACAATG 0.338 DVL3 1857 broad.mit.edu 37 3 183884692 183884692 + Missense_Mutation SNP G A A TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr3:183884692G>A uc003fms.2 + 11 1267 c.1127G>A c.(1126-1128)GGC>GAC p.G376D DVL3_uc011bqw.1_Missense_Mutation_p.G359D|DVL3_uc003fmt.2_Missense_Mutation_p.G47D|DVL3_uc003fmu.2_Missense_Mutation_p.G208D NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 376 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CCTGCATACGGCATGAGCCCC 0.647 FAT4 79633 broad.mit.edu 37 4 126372195 126372195 + Nonsense_Mutation SNP C T T TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr4:126372195C>T uc003ifj.3 + 9 10024 c.10024C>T c.(10024-10026)CGA>TGA p.R3342* FAT4_uc011cgp.1_Nonsense_Mutation_p.R1640*|FAT4_uc003ifi.1_Nonsense_Mutation_p.R820* NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3342 Cadherin 32.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGGTAATAGTCGAAAGAAGGG 0.408 CCDC110 256309 broad.mit.edu 37 4 186380647 186380647 + Missense_Mutation SNP C T T TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr4:186380647C>T uc003ixu.3 - 6 1170 c.1094G>A c.(1093-1095)GGC>GAC p.G365D CCDC110_uc003ixv.3_Missense_Mutation_p.G328D|CCDC110_uc011ckt.1_Missense_Mutation_p.G365D NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 365 nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) AATATTTTTGCCAGTGATGGG 0.323 POM121C 100101267 broad.mit.edu 37 7 75051383 75051383 + Missense_Mutation SNP C T T TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr7:75051383C>T uc003udk.3 - 13 3037 c.2152G>A c.(2152-2154)GCC>ACC p.A718T NM_001099415 NP_001092885 A8CG34 P121C_HUMAN POM121 membrane glycoprotein (rat)-like 960 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 GCTGGCTTGGCGGCCCCCGGT 0.662 PAX5 5079 broad.mit.edu 37 9 37020696 37020696 + Missense_Mutation SNP C A A TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr9:37020696C>A uc003zzo.1 - 2 597 c.149G>T c.(148-150)AGG>ATG p.R50M PAX5_uc011lpw.1_Missense_Mutation_p.R50M|PAX5_uc011lpx.1_Missense_Mutation_p.R50M|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R50M|PAX5_uc011lpz.1_Missense_Mutation_p.R50M|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.R50M|PAX5_uc010mlp.1_Missense_Mutation_p.R50M|PAX5_uc011lqc.1_Missense_Mutation_p.R50M|PAX5_uc010mlr.1_Missense_Mutation_p.R50M|PAX5_uc011lqd.1_Missense_Mutation_p.R49M|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 50 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(31) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GTCGCAGGGCCTGACACCTTG 0.542 T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL