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 LRPPRC 10128 broad.mit.edu 37 2 44153050 44153050 + Silent SNP T T C TCGA-G9-6367-01A-11D-1786-08 TCGA-G9-6367-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f76a7b4-1889-4550-a4d1-3c3a0d1a526d 993197fc-ba4c-466d-9cc2-e08c74cd8f45 g.chr2:44153050T>C ENST00000260665.7 - 26 2844 c.2787A>G c.(2785-2787)agA>agG p.R929R NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 929 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding p.R929R(1) breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTGCAACACATCTGTCACAAA 0.413 6 85 --- --- --- --- NOP58 51602 broad.mit.edu 37 2 203149110 203149110 + Nonsense_Mutation SNP G G T TCGA-G9-6367-01A-11D-1786-08 TCGA-G9-6367-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f76a7b4-1889-4550-a4d1-3c3a0d1a526d 993197fc-ba4c-466d-9cc2-e08c74cd8f45 g.chr2:203149110G>T ENST00000264279.5 + 5 566 c.340G>T c.(340-342)Gaa>Taa p.E114* NOP58_ENST00000467734.1_3'UTR NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 114 cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding p.E114*(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 TGTTGTTAATGAACTTATGAG 0.373 3 46 --- --- --- --- ADAMTS2 9509 broad.mit.edu 37 5 178555106 178555106 + Missense_Mutation SNP C C A TCGA-G9-6367-01A-11D-1786-08 TCGA-G9-6367-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f76a7b4-1889-4550-a4d1-3c3a0d1a526d 993197fc-ba4c-466d-9cc2-e08c74cd8f45 g.chr5:178555106C>A ENST00000251582.7 - 17 2572 c.2471G>T c.(2470-2472)gGa>gTa p.G824V NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 824 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G824V(2) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CCGGGTGTCTCCCACCGGGAT 0.577 4 59 --- --- --- ---