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 ATRX 546 broad.mit.edu 37 X 76856021 76856021 + Missense_Mutation SNP T T C rs45439799 byFrequency TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chrX:76856021T>C ENST00000373344.5 - 23 5793 c.5579A>G c.(5578-5580)aAt>aGt p.N1860S ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1822S NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1860 N -> S (rare polymorphism; dbSNP:rs45439799). DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ACCTTCACTATTATTGCCCAC 0.363000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 6 115 0 0 0.248553 0 0 FRG1B 0 broad.mit.edu 37 20 29624093 29624093 + Splice_Site SNP G G T rs75468660 TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr20:29624093G>T ENST00000278882.3 + 4 496 c.e4+1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site p.?(6) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CTGATTCCAGGTGAGCTTATG 0.299000 5 10 0.000602214 0.000708488 0.184627 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 38 60 0 0 0.796494 0 0 SLX4 84464 broad.mit.edu 37 16 3642722 3642722 + Missense_Mutation SNP C C G rs150712805 byFrequency TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr16:3642722C>G ENST00000294008.3 - 11 2945 c.2305G>C c.(2305-2307)Gag>Cag p.E769Q NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 769 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GAGCTCAGCTCAGAGCTAAGG 0.597000 Direct reversal of damage 3 23 0 0 0.115264 0 0 HAAO 23498 broad.mit.edu 37 2 43010952 43010952 + Missense_Mutation SNP T T A TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr2:43010952T>A ENST00000294973.6 - 3 270 c.215A>T c.(214-216)cAc>cTc p.H72L NM_012205.2 NP_036337.2 P46952 3HAO_HUMAN 3-hydroxyanthranilate 3,4-dioxygenase 72 Domain A (catalytic) (By similarity). neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process cytosol|soluble fraction 3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2) 11 CACATCCCGGTGTTTCCCTTG 0.602000 7 12 0 0 0.307466 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 4 26 0 0 0.150653 0 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 5 71 0 0 0.184627 0 0 GPR124 25960 broad.mit.edu 37 8 37693173 37693173 + Silent SNP G G A TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr8:37693173G>A ENST00000412232.2 + 13 1948 c.1935G>A c.(1933-1935)ctG>ctA p.L645L GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 645 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCCTGCAACTGCTCGTCTTCC 0.682000 30 81 0 0 0.760397 0 0 RP11-266K4.9 0 broad.mit.edu 37 12 8388326 8388326 + RNA SNP G G C rs113732517 TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr12:8388326G>C ENST00000304751.9 + 0 316 FAM86FP_ENST00000427893.2_RNA CGAGCCTCCCGAGGGCTGCAC 0.577000 3 32 0 0 0.115264 0 0 ZNF254 9534 broad.mit.edu 37 19 24288767 24288767 + Missense_Mutation SNP C C T TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr19:24288767C>T ENST00000357002.4 + 2 171 c.56C>T c.(55-57)gCc>gTc p.A19V ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.A19V NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 19 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AGGGATGTGGCCATAGAATTC 0.408000 64 121 0 0 0.870114 0 0 SRSF11 9295 broad.mit.edu 37 1 70716352 70716352 + Frame_Shift_Del DEL A A - TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr1:70716352delA ENST00000370950.3 + 13 1401 c.1319delA c.(1318-1320)gafs p.E441fs SRSF11_ENST00000370951.1_Frame_Shift_Del_p.E440fs|SRSF11_ENST00000370949.1_Frame_Shift_Del_p.E381fs|SRSF11_ENST00000405432.1_Frame_Shift_Del_p.E441fs|SRSF11_ENST00000484162.1_3'UTR Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 441 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 GAGAAAAAAGAAGAGAAGAAA 0.393 7 47 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91899626 91899626 + RNA DEL A A - TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr2:91899626delA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAA 0.289 5 6 --- --- --- --- CEP170B 283638 broad.mit.edu 37 14 105352885 105352890 + In_Frame_Del DEL GCAGGA GCAGGA - rs60001925 TCGA-ET-A2MZ-01A-12D-A19J-08 TCGA-ET-A2MZ-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 654b03aa-d212-4e95-ac1b-a0208691cb0e 85072b72-45e1-451a-9caf-7fb88b4f3cd7 g.chr14:105352885_105352890delGCAGGA ENST00000453495.1 + 12 2540_2545 c.2312_2317delGCAGGA c.(2311-2319)cgc>c p.RRS771del CEP170B_ENST00000556508.1_In_Frame_Del_p.RRS700del|CEP170B_ENST00000418279.1_In_Frame_Del_p.RRS700del|CEP170B_ENST00000414716.3_In_Frame_Del_p.RRS770del centrosomal protein 170B GACAGCAGACGCAGGAGCCCCCAGGA 0.694 5 6 --- --- --- ---