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 TNXB 7148 broad.mit.edu 37 6 32015643 32015643 + Missense_Mutation SNP C C T TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr6:32015643C>T uc003nzl.2 - 29 10388 c.10186G>A c.(10186-10188)Gtg>Atg p.V3396M TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3443 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACCGGCACCACCTGGAGCCGA 0.612000 10 14 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6653563 6653563 + Silent SNP T T G TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr11:6653563T>G uc001mem.1 - 5 3581 c.3180A>C c.(3178-3180)ctA>ctC p.L1060L NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA. 1060 Cadherin 10. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCACGGTCTAGTGCTGCCC 0.592000 18 29 0 0 1 0 0 PKN2 5586 broad.mit.edu 37 1 89273120 89273120 + Missense_Mutation SNP A A G TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr1:89273120A>G uc001dmn.3 + 12 2270 c.1928A>G c.(1927-1929)gAc>gGc p.D643G PKN2_uc010osp.2_Missense_Mutation_p.D627G|PKN2_uc010osq.2_Missense_Mutation_p.D486G|PKN2_uc009wcv.3_Missense_Mutation_p.D595G|PKN2_uc010osr.2_Missense_Mutation_p.D308G NM_006256 NP_006247 Q16513 PKN2_HUMAN Homo sapiens protein kinase N2 (PKN2), mRNA. 643 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) GAACTTGAGGACAGAAGGTAA 0.333000 5 89 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185834992 185834992 + Silent SNP T T C TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr1:185834992T>C uc001grq.1 + 3 847 c.618T>C c.(616-618)aaT>aaC p.N206N NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 206 VWFA. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AACAAGTTAATGAGGTCAGTT 0.353000 10 19 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 66 107 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34241438 34241438 + Missense_Mutation SNP G G A TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr20:34241438G>A uc002xdq.3 - 2 2079 c.1807C>T c.(1807-1809)Cgc>Tgc p.R603C CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xds.3_Missense_Mutation_p.R603C|RBM12_uc002xdr.3_Missense_Mutation_p.R603C|RBM12_uc021wcq.1_Missense_Mutation_p.R603C|RBM12_uc021wcr.1_Missense_Mutation_p.R603C NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 603 nucleus RNA binding|nucleotide binding|protein binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CGGTGTAAGCGTTCAGACTTA 0.398000 54 95 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89345698 89345698 + Missense_Mutation SNP T T C TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr16:89345698T>C uc002fmx.1 - 8 7713 c.7252A>G c.(7252-7254)Atc>Gtc p.I2418V ANKRD11_uc002fmy.1_Missense_Mutation_p.I2418V|ANKRD11_uc002fnc.1_Missense_Mutation_p.I2418V|ANKRD11_uc002fna.1_Missense_Mutation_p.I83V|ANKRD11_uc002fnb.1_Missense_Mutation_p.I2375V NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 2418 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCGTCCACGATGGCGGCCAGC 0.617000 7 17 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94067104 94067104 + Missense_Mutation SNP C C T TCGA-EM-A4FK-01A-11D-A257-08 TCGA-EM-A4FK-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 04e58e29-933d-4488-91a8-06a5ee8f408d db575be4-4c41-4cf6-8883-b31b1377db2c g.chr14:94067104C>T uc001ybv.1 + 21 3114 c.3031C>T c.(3031-3033)Cct>Tct p.P1011S UNC79_uc001ybs.1_Missense_Mutation_p.P1011S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 1188 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CAAGGAATTTCCTTTTCCTAC 0.403000 7 15 0 0 1 0 0