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 ENST00000219251.8 - 7 1197 c.866A>G c.(865-867)cAc>cGc p.H289R ACD_ENST00000393919.4_Missense_Mutation_p.H292R NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 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 0.038395 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 ENST00000282869.5 - 4 2416 c.1132A>G c.(1132-1134)Aca>Gca p.T378A NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 378 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 0.038147 0 0 HRH2 0 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 ENST00000231683.2 + 1 2237 c.464A>T c.(463-465)cAc>cTc p.H155L HRH2_ENST00000377291.2_Missense_Mutation_p.H155L NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 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 0.069234 0 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + 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.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 6 32 0 0 0.047766 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15135 15135 + Missense_Mutation SNP G G A 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.chrM:15135G>A ENST00000361789.2 + 1 389 c.389G>A c.(388-390)gGc>gAc p.130_130insD mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 AGCCTTCATAGGCTATGTCCT 0.463000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 5 230 0 0 0.014758 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA 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.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 65 0 0 0.009096 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 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.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 36 0 0 0.009096 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 ENST00000408940.3 - 1 38 c.39T>C c.(37-39)taT>taC p.Y13Y ABL2_ENST00000511413.1_Intron|ABL2_ENST00000344730.3_Silent_p.Y13Y|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000512653.1_Silent_p.Y13Y|ABL2_ENST00000504405.1_Silent_p.Y13Y|ABL2_ENST00000367623.4_Intron|ABL2_ENST00000392043.3_Intron NM_001168239.1 NP_001161711.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 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 0.047766 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA 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.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 4 52 0 0 0.009096 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency 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.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 58 0 0 0.038147 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 ENST00000374660.1 + 18 1937 c.1838A>T c.(1837-1839)gAg>gTg p.E613V ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E613V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E613V Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 669 nucleus DNA binding|sequence-specific DNA binding transcription factor activity 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 0.038147 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 ENST00000268296.4 + 14 1784 c.1663C>T c.(1663-1665)Ctg>Ttg p.L555L ITGAX_ENST00000562522.1_Silent_p.L555L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 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 0.086207 0 0 MT-RNR2 0 broad.mit.edu 37 MT 3022 3022 + RNA SNP G G A 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.chrM:3022G>A ENST00000387347.2 + 0 1352 NR_039705.1 GATGGTGCAGCCGCTATTAAA 0.453000 7 217 0 0 0.047766 0 0 MT-ND5 4540 broad.mit.edu 37 MT 12591 12591 + Missense_Mutation SNP C C A 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.chrM:12591C>A ENST00000361567.2 + 1 255 c.255C>A c.(253-255)ttC>ttA p.F85L P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 85 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CTAGACTACTTCTCCATAATA 0.393000 10 190 6.42651e-13 1.08082e-12 0.080935 1 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 ENST00000370397.7 - 19 2099 c.2013A>G c.(2011-2013)ctA>ctG p.L671L CHUK_ENST00000590930.1_5'UTR NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 671 I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|T cell receptor signaling pathway|Toll signaling pathway|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|identical protein binding|IkappaB kinase activity 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 0.076483 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6718 6718 + Missense_Mutation SNP G G A 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.chrM:6718G>A ENST00000361624.2 + 1 815 c.815G>A c.(814-816)gGt>gAt p.272_272insD mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 TGGATACATAGGTATGGTCTG 0.393000 60 60 0 0 0.048971 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency 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.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 60 0 0 0.038147 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 ENST00000381652.3 + 4 797 c.303C>T c.(301-303)gtC>gtT p.V101V JAK2_ENST00000539801.1_Silent_p.V101V NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 101 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|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|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP 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|SH2 domain 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 0.033300 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 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 15 29 0 0 0.033300 0 0 MLF2 8079 broad.mit.edu 37 12 6859403 6859403 + Silent SNP C C A 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.chr12:6859403C>A ENST00000203630.5 - 6 983 c.339G>T c.(337-339)acG>acT p.T113T MLF2_ENST00000542154.1_Silent_p.T113T|MLF2_ENST00000435120.1_Silent_p.T113T|MLF2_ENST00000539187.1_Silent_p.T113T Q15773 MLF2_HUMAN myeloid leukemia factor 2 113 defense response cytoplasm|nucleus protein binding p.T113T(1) kidney(2)|large_intestine(3)|lung(4) 9 CACCATCACCCGTATTGGAGT 0.567000 5 156 8.12818e-05 0.000130758 0.029380 1 0 ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes 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.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 8 10 --- --- --- --- RP11-73M7.1 0 broad.mit.edu 37 1 32041150 32041150 + RNA DEL G 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.chr1:32041150delG ENST00000435872.1 - 0 24 GGAGGGCAAAGGGAGTCCCTG 0.622 2 4 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815894 19815895 + RNA INS - - A rs145239076 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.chr4:19815894_19815895insA ENST00000511431.1 + 0 288 CTCTGGGCTGTaaaaaaaaaaa 0.416 2 4 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 84036 84053 + RNA DEL GGGAGCCTGGAAGCACAC GGGAGCCTGGAAGCACAC - rs3743872 by1000genomes 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.chr16:84036_84053delGGGAGCCTGGAAGCACAC ENST00000568710.1 - 0 349 CTTGTCTCTGGGGAGCCTGGAAGCACACGGGCTGGCTA 0.633 4 5 --- --- --- --- LINC00854 0 broad.mit.edu 37 17 41381669 41381670 + RNA INS - - C rs111303145 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.chr17:41381669_41381670insC ENST00000433702.2 - 0 14 NR_047479.1 agaggctgaggcaggagggtgg 0.564 5 4 --- --- --- --- RP11-53I6.2 0 broad.mit.edu 37 18 29656288 29656288 + RNA DEL T 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.chr18:29656288delT ENST00000583184.1 + 0 539 tgtttttttgttttttttttg 0.438 2 4 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes 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.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 3 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11068910 11068911 + RNA DEL AT AT - rs147061174 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.chr21:11068910_11068911delAT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ttctcttatcatatgtgtaatt 0.282 3 4 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11180762 11180762 + RNA DEL T T - rs146742149 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.chr21:11180762delT ENST00000603265.1 + 0 231 aACTAACTTCTTTTTTTTTTT 0.348 4 8 --- --- --- ---