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 FOXB2 442425 broad.mit.edu 37 9 79635214 79635214 + Missense_Mutation SNP G G A TCGA-EJ-A46H-01A-31D-A26M-08 TCGA-EJ-A46H-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32e768ca-262b-4887-831d-be38e2fbded6 4a1b4f8f-a455-4055-bc01-504f65df35b8 g.chr9:79635214G>A ENST00000376708.1 + 1 644 c.644G>A c.(643-645)gGc>gAc p.G215D NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 215 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 TCTCACCCCGGCAAGATGCAG 0.761000 3 20 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-EJ-A46H-01A-31D-A26M-08 TCGA-EJ-A46H-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32e768ca-262b-4887-831d-be38e2fbded6 4a1b4f8f-a455-4055-bc01-504f65df35b8 g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 3 11 0.00116845 0.00116845 1 1 0 UVRAG 7405 broad.mit.edu 37 11 75827023 75827023 + Missense_Mutation SNP T T C TCGA-EJ-A46H-01A-31D-A26M-08 TCGA-EJ-A46H-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32e768ca-262b-4887-831d-be38e2fbded6 4a1b4f8f-a455-4055-bc01-504f65df35b8 g.chr11:75827023T>C ENST00000356136.3 + 14 1602 c.1361T>C c.(1360-1362)cTg>cCg p.L454P UVRAG_ENST00000531818.1_Missense_Mutation_p.L82P|UVRAG_ENST00000539288.1_Missense_Mutation_p.L82P|UVRAG_ENST00000533454.1_Missense_Mutation_p.L82P|UVRAG_ENST00000528420.1_Missense_Mutation_p.L353P|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000532130.1_Missense_Mutation_p.L82P NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 454 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 CTTCCCAACCTGAAAAACTTC 0.393000 3 24 0 0 1 0 0 GTF2H2B 0 broad.mit.edu 37 5 69715976 69715977 + RNA INS - - T TCGA-EJ-A46H-01A-31D-A26M-08 TCGA-EJ-A46H-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32e768ca-262b-4887-831d-be38e2fbded6 4a1b4f8f-a455-4055-bc01-504f65df35b8 g.chr5:69715976_69715977insT ENST00000513202.1 + 0 108 NR_033417.1 CTGGCATTCCATTTTTTTTTAC 0.238 3 4 --- --- --- ---