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 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E 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 4 22 0 0 1 0 0 HMGA2 8091 broad.mit.edu 37 12 66221789 66221789 + Silent SNP C C T TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr12:66221789C>T ENST00000541363.1 + 2 493 c.120C>T c.(118-120)acC>acT p.T40T HMGA2_ENST00000536545.1_Silent_p.T40T|HMGA2_ENST00000393578.3_Silent_p.T40T|HMGA2_ENST00000403681.2_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T|HMGA2_ENST00000393577.3_Silent_p.T40T|HMGA2_ENST00000354636.3_Silent_p.T40T P52926 HMGA2_HUMAN high mobility group AT-hook 2 40 cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent chromatin AT DNA binding HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) AGGAACCAACCGGTGAGCCCT 0.448000 T """ LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT""" """lipoma, leiomyoma, pleiomorphic salivary gland adenoma""" 18 24 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687537 158687537 + Silent SNP G G A TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr1:158687537G>A ENST00000368146.1 - 1 416 c.417C>T c.(415-417)taC>taT p.Y139Y OR6K3_ENST00000368145.1_Silent_p.Y123Y Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) AGATGGCAACGTATCTGTCAA 0.507000 4 81 0 0 1 0 0 ELANE 1991 broad.mit.edu 37 19 853364 853364 + Silent SNP C C T TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr19:853364C>T ENST00000590230.1 + 4 468 c.327C>T c.(325-327)taC>taT p.Y109Y ELANE_ENST00000263621.1_Silent_p.Y109Y P08246 ELNE_HUMAN elastase, neutrophil expressed 109 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) AAAACGGCTACGACCCCGTAA 0.706000 8 14 0 0 1 0 0 OPA3 80207 broad.mit.edu 37 19 46032458 46032458 + Silent SNP G G A TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr19:46032458G>A ENST00000323060.3 - 2 476 c.399C>T c.(397-399)ctC>ctT p.L133L NM_001017989.2 NP_001017989.2 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 133 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) GCAACTCCTCGAGCGCCAGCC 0.697000 13 13 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S 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 22 0 0 1 0 0 FAM221B 392307 broad.mit.edu 37 9 35819971 35819971 + Missense_Mutation SNP G G T TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr9:35819971G>T ENST00000423537.2 - 4 1038 c.769C>A c.(769-771)Cat>Aat p.H257N TMEM8B_ENST00000377996.1_Intron NM_001012446.3 NP_001012448.2 A6H8Z2 CI128_HUMAN family with sequence similarity 221, member B 257 endometrium(2)|kidney(1)|lung(4) 7 CATAGGTAATGGGGGCAGCGC 0.483000 5 72 8.12818e-05 8.12818e-05 1 1 0 LONP1 9361 broad.mit.edu 37 19 5692054 5692054 + Missense_Mutation SNP C C A TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr19:5692054C>A ENST00000360614.3 - 18 3026 c.2869G>T c.(2869-2871)Gtg>Ttg p.V957L LONP1_ENST00000590729.1_Missense_Mutation_p.V827L|LONP1_ENST00000593119.1_Missense_Mutation_p.V893L|LONP1_ENST00000540670.2_Missense_Mutation_p.V761L|LONP1_ENST00000585374.1_Missense_Mutation_p.V843L NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 957 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CACCGTTCCACGGCCAGCGCC 0.687000 29 34 2.49675e-24 2.74642e-24 1 1 0 ARHGAP22 58504 broad.mit.edu 37 10 49667823 49667823 + Missense_Mutation SNP A A T TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr10:49667823A>T ENST00000249601.4 - 5 859 c.563T>A c.(562-564)cTc>cAc p.L188H ARHGAP22_ENST00000374170.1_Missense_Mutation_p.L98H|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.L204H|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.L98H|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.L79H|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.L194H NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 188 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTCCTCAGTGAGCCCGCGCTC 0.642000 52 69 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102743064 102743066 + In_Frame_Del DEL CCA CCA - TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr10:102743064_102743066delCCA ENST00000210633.3 + 14 1786_1788 c.1708_1710delCCA c.(1708-1710)del p.P573del MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_In_Frame_Del_p.P568del Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 568 Ig-like C2-type. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CCCCACAGGGCCACCACCACCAC 0.616 2 4 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29118702 29118704 + RNA DEL AGC AGC - TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chr16:29118702_29118704delAGC ENST00000564580.1 + 0 1448 CTB-134H23.3_ENST00000562618.1_RNA GCCAGGTCCAagcagcagcagca 0.660 2 4 --- --- --- --- PLXNB3 5365 broad.mit.edu 37 X 153044463 153044463 + Frame_Shift_Del DEL C C - TCGA-P8-A6RY-01A-12D-A35D-08 TCGA-P8-A6RY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92 9019f5a7-57eb-44da-9368-4099e7314b2b g.chrX:153044463delC ENST00000538966.1 + 37 6039 c.5768delC c.(5767-5769)gcfs p.A1923fs PLXNB3_ENST00000361971.5_Frame_Shift_Del_p.A1900fs|PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.A1553fs|SRPK3_ENST00000489426.1_5'UTR NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1900 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CAGGTCGCCGCCCTGGTGGAA 0.647 2 4 --- --- --- ---