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 CSRNP1 64651 broad.mit.edu 37 3 39185627 39185627 + Splice_Site SNP C C T TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr3:39185627C>T ENST00000273153.5 - 4 958 c.e4+1 CSRNP1_ENST00000514182.1_Splice_Site NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 AGCCACCACACCTGGCACTTG 0.592 5 47 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52696223 52696223 + Missense_Mutation SNP C C A TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr3:52696223C>A ENST00000356770.4 - 4 456 c.454G>T c.(454-456)Gtt>Ttt p.V152F PBRM1_ENST00000296302.7_Missense_Mutation_p.V152F|PBRM1_ENST00000409057.1_Missense_Mutation_p.V152F|PBRM1_ENST00000337303.4_Missense_Mutation_p.V152F|PBRM1_ENST00000409114.3_Missense_Mutation_p.V152F|PBRM1_ENST00000409767.1_Missense_Mutation_p.V152F|PBRM1_ENST00000410007.1_Missense_Mutation_p.V152F|PBRM1_ENST00000394830.3_Missense_Mutation_p.V152F Q86U86 PB1_HUMAN polybromo 1 152 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CCTTTCTGAACAAACTCATTT 0.408 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 6 120 --- --- --- --- PSG8 440533 broad.mit.edu 37 19 43359755 43359755 + Missense_Mutation SNP G G T rs139331950 by1000genomes TCGA-EJ-A7NK-01A-12D-A34U-08 TCGA-EJ-A7NK-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a04c6e0d-2d89-46bc-abf3-4e1af709f68a fcb74e20-c07f-4d98-b7ce-06fe7e073d14 g.chr19:43359755G>T ENST00000401467.2 - 1 88 c.17C>A c.(16-18)gCc>gAc p.A6D PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 6 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCAGGGAGGGGCTGAGAGGGG 0.577 5 105 --- --- --- ---