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 ACD 65057 broad.mit.edu 37 16 67692859 67692859 + Missense_Mutation SNP T T C TCGA-EM-A2OX-01A-11D-A202-08 TCGA-EM-A2OX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 474b66e6-0202-43b6-8806-d0470074c286 73556664-4b53-4e6b-94c7-28f1061cf074 g.chr16:67692859T>C uc002etq.4 - 6 1212 c.875A>G c.(874-876)cAc>cGc p.H292R ACD_uc002etp.4_Missense_Mutation_p.H289R|ACD_uc002etr.4_Missense_Mutation_p.H289R|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA. 292 Interaction with POT1. intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GGCAGCCCAGTGGGTGACAGG 0.607000 16 75 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31374648 31374648 + Silent SNP C C T TCGA-EM-A2OX-01A-11D-A202-08 TCGA-EM-A2OX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 474b66e6-0202-43b6-8806-d0470074c286 73556664-4b53-4e6b-94c7-28f1061cf074 g.chr16:31374648C>T uc002ebt.3 + 13 1730 c.1663C>T c.(1663-1665)Ctg>Ttg p.L555L ITGAX_uc002ebu.1_Silent_p.L555L|ITGAX_uc010vfk.1_Silent_p.L205L NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 555 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TGCTGTCTACCTGTTTCACGG 0.622000 38 115 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179112141 179112141 + Silent SNP A A G TCGA-EM-A2OX-01A-11D-A202-08 TCGA-EM-A2OX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 474b66e6-0202-43b6-8806-d0470074c286 73556664-4b53-4e6b-94c7-28f1061cf074 g.chr1:179112141A>G uc001gmi.4 - 0 84 c.39T>C c.(37-39)taT>taC p.Y13Y ABL2_uc010pnf.2_Intron|ABL2_uc010png.2_Intron|ABL2_uc001gmj.4_Intron|ABL2_uc010pnh.2_Intron|ABL2_uc009wxe.3_Intron|ABL2_uc001gmg.4_Silent_p.Y13Y|ABL2_uc010pne.2_Silent_p.Y13Y|ABL2_uc001gmk.3_Silent_p.Y13Y|ABL2_uc009wxf.2_Silent_p.Y13Y NM_005158 NP_005149 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant c, mRNA. 0 CAP. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GATCTCTGCCATAACTATTAG 0.458000 T ETV6 AML 7 54 0 0 1 0 0 JAK2 3717 broad.mit.edu 37 9 5029859 5029859 + Silent SNP C C T TCGA-EM-A2OX-01A-11D-A202-08 TCGA-EM-A2OX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 474b66e6-0202-43b6-8806-d0470074c286 73556664-4b53-4e6b-94c7-28f1061cf074 g.chr9:5029859C>T uc010mhm.3 + 2 416 c.303C>T c.(301-303)gtC>gtT p.V101V JAK2_uc003ziw.3_Silent_p.V101V NM_004972 NP_004963 O60674 JAK2_HUMAN Homo sapiens Janus kinase 2 (JAK2), mRNA. 101 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) CCAACCATGTCTTCCATATAG 0.368000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 16 99 0 0 1 0 0 ZNF117 51351 broad.mit.edu 37 7 64438817 64438817 + Missense_Mutation SNP T T C TCGA-EM-A2OX-01A-11D-A202-08 TCGA-EM-A2OX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 474b66e6-0202-43b6-8806-d0470074c286 73556664-4b53-4e6b-94c7-28f1061cf074 g.chr7:64438817T>C uc003ttr.2 - 3 2417 c.1132A>G c.(1132-1134)Aca>Gca p.T378A NM_015852 NP_056936 Q03924 ZN117_HUMAN Homo sapiens zinc finger protein 117 (ZNF117), mRNA. 378 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) ATCTTATGTGTATTAAGGGCT 0.383000 7 53 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A2OX-01A-11D-A202-08 TCGA-EM-A2OX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 474b66e6-0202-43b6-8806-d0470074c286 73556664-4b53-4e6b-94c7-28f1061cf074 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 15 29 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37454025 37454025 + Missense_Mutation SNP A A T TCGA-EM-A2OX-01A-11D-A202-08 TCGA-EM-A2OX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 474b66e6-0202-43b6-8806-d0470074c286 73556664-4b53-4e6b-94c7-28f1061cf074 g.chr10:37454025A>T uc021ppc.1 + 17 1937 c.1838A>T c.(1837-1839)gAg>gTg p.E613V ANKRD30A_uc001iza.1_Missense_Mutation_p.E613V NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 669 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E613K(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TTTATAGATGAGATACTCCCA 0.308000 6 48 0 0 1 0 0 HRH2 3274 broad.mit.edu 37 5 175110700 175110700 + Missense_Mutation SNP A A T TCGA-EM-A2OX-01A-11D-A202-08 TCGA-EM-A2OX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 474b66e6-0202-43b6-8806-d0470074c286 73556664-4b53-4e6b-94c7-28f1061cf074 g.chr5:175110700A>T uc003mdc.4 + 1 1108 c.464A>T c.(463-465)cAc>cTc p.H155L HRH2_uc003mdd.2_Missense_Mutation_p.H155L NM_001131055 NP_001124527 P25021 HRH2_HUMAN Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA. 155 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CTGTCTATCCACCTGGGGTGG 0.552000 9 58 0 0 1 0 0 CHUK 1147 broad.mit.edu 37 10 101953150 101953150 + Silent SNP T T C TCGA-EM-A2OX-01A-11D-A202-08 TCGA-EM-A2OX-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 474b66e6-0202-43b6-8806-d0470074c286 73556664-4b53-4e6b-94c7-28f1061cf074 g.chr10:101953150T>C uc001kqp.3 - 18 2068 c.2013A>G c.(2011-2013)ctA>ctG p.L671L NM_001278 NP_001269 O15111 IKKA_HUMAN Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA. 671 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|IkappaB kinase activity|identical protein binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) CTGCACCTTCTAGACTGGATC 0.473000 22 51 0 0 1 0 0