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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut RASAL1 8437 broad.mit.edu 37 12 113552686 113552686 + Missense_Mutation SNP A A G TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr12:113552686A>G uc001tum.1 - 13 1393 c.1100T>C c.(1099-1101)CTG>CCG p.L367P RASAL1_uc010syp.1_Missense_Mutation_p.L367P|RASAL1_uc001tul.2_Missense_Mutation_p.L367P|RASAL1_uc001tun.1_Missense_Mutation_p.L367P|RASAL1_uc010syq.1_Missense_Mutation_p.L367P|RASAL1_uc001tuo.3_Missense_Mutation_p.L367P|RASAL1_uc010syr.1_Missense_Mutation_p.L367P NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 367 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 CACAGGCTTCAGGACCTCGTG 0.657 NA 4 329 0 0 0 0 AKAP11 11215 broad.mit.edu 37 13 42874583 42874583 + Missense_Mutation SNP A A C TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr13:42874583A>C uc001uys.1 + 8 1876 c.1701A>C c.(1699-1701)AAA>AAC p.K567N NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 567 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GTGCATTTAAAGACTTACAGA 0.323 NA 3 59 0 0 0 0 CUEDC1 404093 broad.mit.edu 37 17 55957076 55957076 + Silent SNP A A G TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr17:55957076A>G uc002ivd.1 - 3 1079 c.360T>C c.(358-360)CCT>CCC p.P120P CUEDC1_uc002ive.1_Silent_p.P120P NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN CUE domain-containing 1 120 Pro-rich. skin(2) 2 CCGAGCTATCAGGTTCCAAAG 0.408 NA 3 99 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579566 7579566 + Frame_Shift_Del DEL C C - TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr17:7579566delC uc002gim.2 - 4 315 c.121delG c.(121-123)GATfs p.D41fs TP53_uc002gig.1_Frame_Shift_Del_p.D41fs|TP53_uc002gih.2_Frame_Shift_Del_p.D41fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.D41fs|TP53_uc010cni.1_Frame_Shift_Del_p.D41fs|TP53_uc002gij.2_Frame_Shift_Del_p.D41fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.D2fs|TP53_uc010cnk.1_Frame_Shift_Del_p.D56fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 41 Transcription activation (acidic).|Interaction with HRMT1L2. activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.D41fs*3(1)|p.S37fs*79(1)|p.P13fs*18(1)|p.S33fs*23(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATCAAATCATCCATTGCTTGG 0.458 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 285 --- --- --- --- NA NA NA NA