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 CNEP1R1 255919 broad.mit.edu 37 16 50059581 50059581 + Silent SNP G G A TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr16:50059581G>A uc002eft.3 + 1 83 c.45G>A c.(43-45)ctG>ctA p.L15L CNEP1R1_uc002efu.3_Intron|CNEP1R1_uc002efv.3_Intron NM_153261 NP_694993 Q8N9A8 TM188_HUMAN Homo sapiens transmembrane protein 188 (TMEM188), mRNA. 8 R -> G (in Ref. 2; CAI45924). integral to membrane TTGTATCCCTGATTCCTGCGG 0.463000 12 55 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40913253 40913253 + Missense_Mutation SNP A A G TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr15:40913253A>G uc010bbs.1 + 10 1030 c.869A>G c.(868-870)gAt>gGt p.D290G CASC5_uc010ucq.1_Missense_Mutation_p.D114G|CASC5_uc001zme.3_Missense_Mutation_p.D264G|CASC5_uc010bbt.1_Missense_Mutation_p.D264G NM_170589 NP_733468 Q8NG31 CASC5_HUMAN Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA. 290 Interaction with BUB1 and BUB1B. CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CTTAAGGAAGATGAAAATAAC 0.363000 6 93 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135389 55135389 + Silent SNP T T C TCGA-BJ-A0ZJ-01A-11D-A10S-08 TCGA-BJ-A0ZJ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 50437cd5-7611-4021-bba6-5a6597c8d024 219fccf2-bfd4-412a-bf0c-e865392d8b4e g.chr11:55135389T>C uc010rif.2 + 0 30 c.30T>C c.(28-30)ttT>ttC p.F10F NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATCTCAAATTTATCACTGACC 0.413000 4 78 0 0 1 0 0