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 CD48 962 broad.mit.edu 37 1 160651208 160651208 + Missense_Mutation SNP C C T TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr1:160651208C>T ENST00000368046.3 - 3 523 c.436G>A c.(436-438)Gac>Aac p.D146N RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA NM_001778.3 NP_001769.2 P09326 CD48_HUMAN CD48 molecule 146 Ig-like C2-type 2. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TAACAGTTGTCATCCATGTCT 0.458 21 100 --- --- --- --- FAM212A 389119 broad.mit.edu 37 3 49842264 49842264 + Silent SNP G G A TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr3:49842264G>A ENST00000333323.4 + 2 841 c.708G>A c.(706-708)cgG>cgA p.R236R NM_203370.1 NP_976248.1 Q96EL1 CC054_HUMAN family with sequence similarity 212, member A 234 TTCGGCGCCGGCTGGCCAGGG 0.667 4 90 --- --- --- --- PNISR 25957 broad.mit.edu 37 6 99852521 99852521 + Missense_Mutation SNP T T G TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr6:99852521T>G ENST00000369239.5 - 9 1264 c.1060A>C c.(1060-1062)Att>Ctt p.I354L PNISR_ENST00000438806.1_Missense_Mutation_p.I354L NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 354 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 ACGTAATAAATTTCTTCATCT 0.343 7 45 --- --- --- --- METTL4 64863 broad.mit.edu 37 18 2539121 2539121 + Missense_Mutation SNP G G C TCGA-KC-A7FE-01A-12D-A33T-08 TCGA-KC-A7FE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9eec79fd-cca8-4d92-bda0-c4d392cfa575 d917fdbc-60b4-4913-8359-0ed1fce972f3 g.chr18:2539121G>C ENST00000319888.6 - 8 2003 c.1205C>G c.(1204-1206)gCc>gGc p.A402G METTL4_ENST00000574538.1_Missense_Mutation_p.P433A Q8N3J2 METL4_HUMAN methyltransferase like 4 0 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 TCCCCATCTGGCTTGATGTAG 0.343 7 74 --- --- --- ---