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_status validation_method validation_tumor_sample validation_alt_allele filter TMTC1 83857 broad.mit.edu 37 12 29665042 29665042 + Silent SNP C A A TCGA-34-5241-01A-01D-1441-08 TCGA-34-5241-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0bcdbc37-cde8-47df-9184-621b2b47da5b bd4b1124-3d34-4d8b-ab22-29c938c7ef70 g.chr12:29665042C>A uc001rjb.2 - 17 2592 c.2118G>T c.(2116-2118)GTG>GTT p.V706V TMTC1_uc001riz.2_Silent_p.V463V|TMTC1_uc001rja.2_Silent_p.V550V|TMTC1_uc001riy.2_Silent_p.V159V NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 814 TPR 9. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GTTGCACAGCCACTCTATAGC 0.443 55 139 --- --- --- --- PASS SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT - - rs35266724 TCGA-34-5241-01A-01D-1441-08 TCGA-34-5241-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0bcdbc37-cde8-47df-9184-621b2b47da5b bd4b1124-3d34-4d8b-ab22-29c938c7ef70 g.chr9:139277995_139277997delGCT uc004chh.2 - 15 1633_1635 c.1624_1626delAGC c.(1624-1626)AGCdel p.S542del NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.473 8 4 --- --- --- --- ZNF268 10795 broad.mit.edu 37 12 133779994 133779994 + Frame_Shift_Del DEL C - - TCGA-34-5241-01A-01D-1441-08 TCGA-34-5241-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0bcdbc37-cde8-47df-9184-621b2b47da5b bd4b1124-3d34-4d8b-ab22-29c938c7ef70 g.chr12:133779994delC uc010tcf.1 + 6 2052 c.1722delC c.(1720-1722)CACfs p.H574fs ZNF268_uc010tbv.1_Frame_Shift_Del_p.H413fs|ZNF268_uc010tbw.1_Frame_Shift_Del_p.H413fs|ZNF268_uc010tbx.1_Frame_Shift_Del_p.H434fs|ZNF268_uc010tby.1_Frame_Shift_Del_p.H413fs|ZNF268_uc010tbz.1_Frame_Shift_Del_p.H413fs|ZNF268_uc010tca.1_Frame_Shift_Del_p.H413fs|ZNF268_uc010tcb.1_Frame_Shift_Del_p.H434fs|ZNF268_uc010tcc.1_Frame_Shift_Del_p.H413fs|ZNF268_uc010tcd.1_Frame_Shift_Del_p.H413fs|ZNF268_uc010tce.1_Frame_Shift_Del_p.H413fs|ZNF268_uc010tcg.1_Frame_Shift_Del_p.H413fs|ZNF268_uc010tch.1_Frame_Shift_Del_p.H574fs NM_003415 NP_003406 Q14587 ZN268_HUMAN zinc finger protein 268 isoform a 574 C2H2-type 11. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) TTATTTCACACCAGAGAACTC 0.433 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 15 82620383 82620384 + RNA INS - ACCCAGG ACCCAGG TCGA-34-5241-01A-01D-1441-08 TCGA-34-5241-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0bcdbc37-cde8-47df-9184-621b2b47da5b bd4b1124-3d34-4d8b-ab22-29c938c7ef70 g.chr15:82620383_82620384insACCCAGG uc010bls.1 + 1 c.476_477insACCCAGG Homo sapiens mRNA for FLJ00317 protein. GCCTGCCCTGAACCCAGGACCC 0.663 4 4 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - TCC TCC rs141374045 by1000genomes TCGA-34-5241-01A-01D-1441-08 TCGA-34-5241-10A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0bcdbc37-cde8-47df-9184-621b2b47da5b bd4b1124-3d34-4d8b-ab22-29c938c7ef70 g.chr16:2049882_2049883insTCC uc002cof.1 - 11 1682_1683 c.1667_1668insGGA c.(1666-1668)GAC>GAGGAC p.555_556insE ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 555_556 intracellular zinc ion binding lung(1)|breast(1) 2 CCGGGCCGCCGTCCTCCTCCTC 0.703 4 5 --- --- --- ---