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 GHR 2690 broad.mit.edu 37 5 42718721 42718721 + Missense_Mutation SNP A A C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:42718721A>C ENST00000230882.4 + 10 1302 c.1112A>C c.(1111-1113)gAg>gCg p.E371A GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E349A|GHR_ENST00000537449.1_Missense_Mutation_p.E184A NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 371 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGTGACCATGAGAAATCACAT 0.433000 36 6 0 0 7.24521e-05 0 0 CXXC1 30827 broad.mit.edu 37 18 47812187 47812187 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr18:47812187T>A ENST00000285106.6 - 5 1285 c.571A>T c.(571-573)Aag>Tag p.K191* CXXC1_ENST00000412036.2_Nonsense_Mutation_p.K191*|CXXC1_ENST00000589940.1_Nonsense_Mutation_p.K191* NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 191 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CCGAACTTCTTCATGTCCCGA 0.622000 15 18 0 0 5.01169e-05 0 0 HCFC1 3054 broad.mit.edu 37 X 153227717 153227717 + Silent SNP C C T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chrX:153227717C>T ENST00000310441.7 - 5 1719 c.753G>A c.(751-753)gcG>gcA p.A251A HCFC1_ENST00000354233.3_Silent_p.A251A|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Silent_p.A251A NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 251 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAGGAAGAGGCGCCACCCCGC 0.597000 8 9 0 0 3.86212e-05 0 0 ATRN 8455 broad.mit.edu 37 20 3515900 3515900 + Splice_Site SNP A A G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr20:3515900A>G ENST00000262919.5 + 2 479 c.410_splice c.e2-1 p.R137_splice ATRN_ENST00000446916.2_Splice_Site_p.R137_splice NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 137 CUB. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 TAAATTACAGACTAACTGGAT 0.279000 21 35 0 0 0.000229342 0 0 VPS54 51542 broad.mit.edu 37 2 64160813 64160813 + Missense_Mutation SNP T T G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr2:64160813T>G ENST00000354504.3 - 9 1863 c.1274A>C c.(1273-1275)gAt>gCt p.D425A VPS54_ENST00000272322.4_Missense_Mutation_p.D578A|VPS54_ENST00000409558.3_Missense_Mutation_p.D566A Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 578 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TCACATAATATCCACACCTCC 0.388000 13 21 0 0 5.01169e-05 0 0 TNC 3371 broad.mit.edu 37 9 117808817 117808817 + Missense_Mutation SNP A A C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr9:117808817A>C ENST00000350763.4 - 17 5408 c.4997T>G c.(4996-4998)aTa>aGa p.I1666R TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Missense_Mutation_p.I1120R|TNC_ENST00000341037.4_Missense_Mutation_p.I1484R|TNC_ENST00000542877.1_Missense_Mutation_p.I1303R|TNC_ENST00000340094.3_Missense_Mutation_p.I1302R|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Missense_Mutation_p.I1211R NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1666 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AAGTAGGGTTATTTCCAGTGG 0.473000 4 58 0 0 0.00024832 0 0 PIGU 128869 broad.mit.edu 37 20 33176297 33176297 + Missense_Mutation SNP G G C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr20:33176297G>C ENST00000374820.2 - 7 702 c.682C>G c.(682-684)Ctc>Gtc p.L228V PIGU_ENST00000452740.2_Missense_Mutation_p.L248V|PIGU_ENST00000480175.1_5'UTR Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 248 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 CAAGAGCTGAGAAGGAAGAAG 0.433000 10 15 0 0 6.40141e-05 0 0 STK38 11329 broad.mit.edu 37 6 36467713 36467713 + Missense_Mutation SNP T T C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr6:36467713T>C ENST00000229812.7 - 10 1174 c.889A>G c.(889-891)Acc>Gcc p.T297A NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 297 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTGTACCCGGTCTGCATGAAC 0.522000 7 62 0 0 8.12818e-05 0 0 HIST1H2BI 8346 broad.mit.edu 37 6 26273355 26273355 + Missense_Mutation SNP C C G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr6:26273355C>G ENST00000377733.2 + 1 212 c.152C>G c.(151-153)cCc>cGc p.P51R NM_003525.2 NP_003516.1 P62807 H2B1C_HUMAN histone cluster 1, H2bi 51 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1) 16 CAGGTCCACCCCGACACCGGC 0.572000 5 167 0 0 8.12818e-05 0 0 MBD5 55777 broad.mit.edu 37 2 149247828 149247828 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr2:149247828C>T ENST00000407073.1 + 12 4925 c.3928C>T c.(3928-3930)Caa>Taa p.Q1310* MBD5_ENST00000404807.1_Nonsense_Mutation_p.Q1543* NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1310 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CACTGCAAAGCAAGACCTGGT 0.443000 21 25 0 0 0.000229342 0 0 NLRP10 338322 broad.mit.edu 37 11 7982724 7982724 + Missense_Mutation SNP C C A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr11:7982724C>A ENST00000328600.2 - 2 596 c.435G>T c.(433-435)caG>caT p.Q145H NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 145 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTCCAGCTCCTGCTCCGGGA 0.592000 16 18 2.31682e-05 0.00150298 0.000308642 1 0 IQGAP2 10788 broad.mit.edu 37 5 75970327 75970327 + Missense_Mutation SNP G G C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:75970327G>C ENST00000274364.6 + 27 3617 c.3320G>C c.(3319-3321)cGg>cCg p.R1107P IQGAP2_ENST00000396234.3_Missense_Mutation_p.R603P|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R603P|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R609P NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1107 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CTGTACTATCGGTACATGAAT 0.388000 4 41 0 0 8.12818e-05 0 0 FKBP9 11328 broad.mit.edu 37 7 33042361 33042361 + Silent SNP G G A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr7:33042361G>A ENST00000242209.4 + 9 1615 c.1446G>A c.(1444-1446)gaG>gaA p.E482E FKBP9_ENST00000538443.1_Silent_p.E344E|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.E535E|FKBP9_ENST00000490776.2_Silent_p.E250E NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 482 protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) GCCTTCCTGAGGGGTACATGT 0.532000 16 3 0 0 3.45872e-05 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). 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|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 17 2 0 0 0.000295444 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106109035 106109035 + Missense_Mutation SNP T T G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chrX:106109035T>G ENST00000357242.5 + 16 2608 c.2434T>G c.(2434-2436)Tta>Gta p.L812V TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L806V NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 812 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AGAGCTGTTTTTATCTTGTTA 0.328000 47 67 0 0 0.000125731 0 0 HYI 81888 broad.mit.edu 37 1 43917105 43917105 + Missense_Mutation SNP C C A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:43917105C>A ENST00000583037.1 - 7 931 c.517G>T c.(517-519)Gtg>Ttg p.V173L HYI_ENST00000372426.1_Missense_Mutation_p.V198L|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372432.1_Missense_Mutation_p.V246L|HYI_ENST00000372434.1_Missense_Mutation_p.V271L|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000486909.1_Missense_Mutation_p.V246L|HYI_ENST00000372425.4_Missense_Mutation_p.V246L NM_001190880.2 NP_001177809.1 Q5T013 HYI_HUMAN hydroxypyruvate isomerase (putative) 246 hydroxypyruvate isomerase activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 6 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCACAGCCCACGAAGCCTTTG 0.622000 17 21 9.16793e-09 6.07674e-07 5.01169e-05 1 0 PCDHB14 56122 broad.mit.edu 37 5 140604055 140604055 + Silent SNP T T C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:140604055T>C ENST00000239449.4 + 1 978 c.978T>C c.(976-978)ggT>ggC p.G326G PCDHB14_ENST00000515856.2_Silent_p.G173G NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 326 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGGTGGGGGTCTTTCAGGAA 0.383000 6 47 0 0 3.59834e-05 0 0 LMOD1 25802 broad.mit.edu 37 1 201868801 201868801 + Missense_Mutation SNP A A C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:201868801A>C ENST00000367288.4 - 2 1586 c.1340T>G c.(1339-1341)cTg>cGg p.L447R RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 447 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CAGCTTGAGCAGGGTAGTATT 0.567000 5 6 0 0 3.59834e-05 0 0 GLP1R 2740 broad.mit.edu 37 6 39041404 39041404 + Silent SNP C C T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr6:39041404C>T ENST00000373256.4 + 7 725 c.682C>T c.(682-684)Ctg>Ttg p.L228L NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 228 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) GAGCTGCCGCCTGGTGTTTCT 0.587000 26 34 0 0 0.000147802 0 0 SLC22A12 116085 broad.mit.edu 37 11 64366364 64366364 + Missense_Mutation SNP C C A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr11:64366364C>A ENST00000377574.1 + 6 1786 c.1039C>A c.(1039-1041)Cgc>Agc p.R347S SLC22A12_ENST00000473690.1_Missense_Mutation_p.R126S|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R239S|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R313S|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R239S NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 347 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GCCCGGACTGCGCTTCCGGAC 0.667000 10 12 6.40141e-05 0.00398325 6.40141e-05 1 0 ADCY2 108 broad.mit.edu 37 5 7789862 7789862 + Silent SNP G G A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:7789862G>A ENST00000338316.4 + 20 2666 c.2577G>A c.(2575-2577)gtG>gtA p.V859V ADCY2_ENST00000537121.1_Silent_p.V679V NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 859 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TGGAGAACGTGCTTCCCGCGC 0.562000 11 62 0 0 3.86212e-05 0 0 SSTR3 6753 broad.mit.edu 37 22 37602855 37602855 + Missense_Mutation SNP G G A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr22:37602855G>A ENST00000328544.3 - 2 1521 c.988C>T c.(988-990)Cgg>Tgg p.R330W SSTR3_ENST00000402501.1_Missense_Mutation_p.R330W NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 330 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 CGGGAGGGCCGCAGCAGGACC 0.662000 10 2 0 0 0.000151284 0 0 FER1L6 654463 broad.mit.edu 37 8 125035704 125035704 + Silent SNP C C T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr8:125035704C>T ENST00000522917.1 + 18 2360 c.2154C>T c.(2152-2154)gaC>gaT p.D718D FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.D718D NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 718 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTATCCCTGACGTTTTCATCT 0.527000 18 31 0 0 0.000295444 0 0 TMEM86B 255043 broad.mit.edu 37 19 55739565 55739565 + Missense_Mutation SNP C C T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr19:55739565C>T ENST00000327042.4 - 2 814 c.292G>A c.(292-294)Gtc>Atc p.V98I AC010327.2_ENST00000598855.1_3'UTR NM_173804.4 NP_776165.3 Q8N661 TM86B_HUMAN transmembrane protein 86B 98 ether lipid metabolic process cytoplasmic part|integral to membrane alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) TCACCAGGGACGAAGGCTGCC 0.652000 8 8 0 0 2.17888e-05 0 0 MBTD1 54799 broad.mit.edu 37 17 49270312 49270312 + Silent SNP A A G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr17:49270312A>G ENST00000586178.1 - 15 1864 c.1521T>C c.(1519-1521)cgT>cgC p.R507R MBTD1_ENST00000376381.2_3'UTR|MBTD1_ENST00000415868.1_Silent_p.R507R NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 507 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CACATATTAAACGTGGCTCCA 0.388000 48 67 0 0 0.000147903 0 0 UBIAD1 29914 broad.mit.edu 37 1 11333715 11333715 + Missense_Mutation SNP A A G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:11333715A>G ENST00000376810.5 + 1 453 c.127A>G c.(127-129)Agg>Ggg p.R43G UBIAD1_ENST00000376804.2_Missense_Mutation_p.R43G NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 43 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) GCGCTCCTGGAGGCAGAAGTG 0.622000 8 13 0 0 0.000157383 0 0 KCNB1 3745 broad.mit.edu 37 20 47990456 47990456 + Silent SNP G G T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr20:47990456G>T ENST00000371741.4 - 2 1807 c.1641C>A c.(1639-1641)acC>acA p.T547T NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 547 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTGACTCCTTGGTATTGAGGA 0.517000 7 160 0.000157383 0.00959723 0.000157383 1 0 PDHX 8050 broad.mit.edu 37 11 34991758 34991758 + Missense_Mutation SNP A A C rs146262415 TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr11:34991758A>C ENST00000448838.3 + 7 1086 c.844A>C c.(844-846)Act>Cct p.T282P PDHX_ENST00000227868.4_Missense_Mutation_p.T297P|PDHX_ENST00000430469.2_Intron NM_001135024.1|NM_003477.2 NP_001128496.1|NP_003468.2 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 297 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) ATCTAAAAGTACTGTACCTCA 0.393000 13 24 0 0 0.000219431 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750027 140750027 + Silent SNP C C G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:140750027C>G ENST00000576222.1 + 1 197 c.66C>G c.(64-66)ctC>ctG p.L22L PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCCTGCTCTCTTTGTTAG 0.587000 4 22 0 0 0.00024832 0 0 MC1R 4157 broad.mit.edu 37 16 89985811 89985811 + Missense_Mutation SNP G G C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr16:89985811G>C ENST00000555427.1 + 3 2448 c.145G>C c.(145-147)Ggg>Cgg p.G49R TUBB3_ENST00000556922.1_Missense_Mutation_p.G49R|MC1R_ENST00000555147.1_Missense_Mutation_p.G49R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CCTCAGCCTGGGGCTGGTGAG 0.647000 Melanoma, Familial Clustering of 3 18 0 0 6.4e-05 0 0 GPX7 2882 broad.mit.edu 37 1 53072382 53072382 + Silent SNP C C T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:53072382C>T ENST00000361314.4 + 2 203 c.165C>T c.(163-165)agC>agT p.S55S GPX7_ENST00000459779.1_3'UTR NM_015696.4 NP_056511.2 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 55 response to oxidative stress extracellular region glutathione peroxidase activity breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1) 7 Glutathione(DB00143) ATGTGGCCAGCGAGTGCGGCT 0.572000 11 8 0 0 6.40141e-05 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48847416 48847416 + Silent SNP C C T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chrX:48847416C>T ENST00000376423.4 - 6 437 c.405G>A c.(403-405)ccG>ccA p.P135P GRIPAP1_ENST00000376444.3_Silent_p.P143P|GRIPAP1_ENST00000376425.3_Silent_p.P188P|GRIPAP1_ENST00000376441.1_Silent_p.P188P|GRIPAP1_ENST00000473581.1_5'UTR NM_207672.1 NP_997555.1 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 188 early endosome p.P135P(2)|p.P188P(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 CCTCTGCCAACGGCATGGGGG 0.597000 14 4 0 0 0.000308642 0 0 CROCCP2 84809 broad.mit.edu 37 1 16952952 16952952 + RNA SNP G G A rs1762946 by1000genomes TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:16952952G>A ENST00000412962.1 - 0 664 TCTGCCCTCAGCTTGGTCACG 0.622000 5 18 0 0 1.23904e-05 0 0 PRKDC 5591 broad.mit.edu 37 8 48840367 48840367 + Silent SNP A A G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr8:48840367A>G ENST00000314191.2 - 20 2279 c.2223T>C c.(2221-2223)atT>atC p.I741I PRKDC_ENST00000338368.3_Silent_p.I741I|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 741 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CATCGAGTTCAATGATGTTGT 0.443000 Non-homologous end-joining 9 16 0 0 2.17888e-05 0 0 NMRAL1 57407 broad.mit.edu 37 16 4511935 4511935 + Missense_Mutation SNP A A G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr16:4511935A>G ENST00000574733.1 - 6 1475 c.746T>C c.(745-747)cTt>cCt p.L249P NMRAL1_ENST00000574425.1_Missense_Mutation_p.L249P|NMRAL1_ENST00000283429.6_Missense_Mutation_p.L249P|NMRAL1_ENST00000404295.3_Missense_Mutation_p.L249P Q9HBL8 NMRL1_HUMAN NmrA-like family domain containing 1 249 nucleus|perinuclear region of cytoplasm binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1) 15 GGGAAAGCCAAGCTTTTCGTA 0.647000 27 29 0 0 0.000147802 0 0 APC 324 broad.mit.edu 37 5 112173801 112173801 + Nonsense_Mutation SNP C C G rs79512956 TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr5:112173801C>G ENST00000457016.1 + 16 2890 c.2510C>G c.(2509-2511)tCa>tGa p.S837* CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S837*|APC_ENST00000508376.2_Nonsense_Mutation_p.S837* P25054 APC_HUMAN adenomatous polyposis coli 837 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCCTCTTCATCAAGAGGAAGC 0.398000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 22 22 0 0 0.000229342 0 0 FAM83B 222584 broad.mit.edu 37 6 54805115 54805115 + Missense_Mutation SNP C C T rs147775708 byFrequency TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr6:54805115C>T ENST00000306858.7 + 5 1462 c.1346C>T c.(1345-1347)gCg>gTg p.A449V NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 449 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AATCGGCTTGCGCAGAGAAAA 0.463000 12 29 0 0 0.00010058 0 0 CAPNS1 826 broad.mit.edu 37 19 36640548 36640548 + Missense_Mutation SNP C C G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr19:36640548C>G ENST00000587718.1 + 10 855 c.790C>G c.(790-792)Ccc>Gcc p.P264A CAPNS1_ENST00000246533.3_Intron|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588780.1_Intron|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000588815.1_Intron P04632 CPNS1_HUMAN calpain, small subunit 1 0 EF-hand 5. WLQLTMYS -> VRTPILGYGCLGGPHPSALHTSSELQSPS SYFASRPWVRAKGLVLLGFPVLTLHPPLPSGCS (in Ref. 7; AAH11903). positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGTAAGGACCCCCATATTGGG 0.572000 8 9 0 0 0.000157383 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74625601 74625601 + Silent SNP C C T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr17:74625601C>T ENST00000156626.7 - 2 523 c.324G>A c.(322-324)ccG>ccA p.P108P ST6GALNAC1_ENST00000590878.1_5'UTR NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 108 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GCTCCTCCGGCGGTGCCTGGT 0.587000 15 16 0 0 0.000219431 0 0 ZBTB1 22890 broad.mit.edu 37 14 64988483 64988483 + Silent SNP T T A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr14:64988483T>A ENST00000358738.3 + 2 652 c.261T>A c.(259-261)atT>atA p.I87I RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Silent_p.I87I|ZBTB1_ENST00000554015.1_Silent_p.I87I NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 87 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) TAGGAAAAATTATGACAGCTC 0.373000 22 43 0 0 0.000229342 0 0 DHX30 22907 broad.mit.edu 37 3 47882497 47882497 + Missense_Mutation SNP G G A TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr3:47882497G>A ENST00000446256.2 + 8 952 c.380G>A c.(379-381)cGg>cAg p.R127Q DHX30_ENST00000348968.4_Missense_Mutation_p.R138Q|DHX30_ENST00000457607.1_Missense_Mutation_p.R194Q|DHX30_ENST00000445061.1_Missense_Mutation_p.R166Q NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 166 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ACTTCCTGGCGGCAGCTGAAT 0.597000 5 8 0 0 1.23904e-05 0 0 DMD 1756 broad.mit.edu 37 X 32486764 32486764 + Missense_Mutation SNP C C T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chrX:32486764C>T ENST00000357033.4 - 23 3219 c.3013G>A c.(3013-3015)Gag>Aag p.E1005K DMD_ENST00000378677.2_Missense_Mutation_p.E1001K NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1005 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTCGACATCTCTTTCACAGTG 0.403000 22 4 0 0 0.000375601 0 0 CYLC2 1539 broad.mit.edu 37 9 105765476 105765476 + Silent SNP T T C TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr9:105765476T>C ENST00000374798.3 + 3 181 c.111T>C c.(109-111)ttT>ttC p.F37F CYLC2_ENST00000487798.1_Silent_p.F37F NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 37 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CCCTGTTATTTCCCAAACCAC 0.368000 16 40 0 0 9.7654e-05 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5969390 5969390 + Splice_Site SNP A A G TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr18:5969390A>G ENST00000284898.6 - 18 1842 c.e18+1 L3MBTL4_ENST00000400105.2_Splice_Site|L3MBTL4_ENST00000535782.1_Splice_Site|L3MBTL4_ENST00000317931.7_Splice_Site NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) AGCTCCACTCACCTCATCCAC 0.622000 4 37 0 0 3.59834e-05 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20465966 20465967 + Frame_Shift_Del DEL GT GT - TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:20465966_20465967delGT ENST00000375102.3 + 1 148_149 c.46_47delGT c.(46-48)gfs p.V16fs NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 0 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CAAAAAGAAGGTGCTGGATAGA 0.579 2 4 --- --- --- --- RP11-423O2.5 0 broad.mit.edu 37 1 142803299 142803302 + RNA DEL CAAC CAAC - rs79529551 TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr1:142803299_142803302delCAAC ENST00000423385.1 - 0 1663_1666 acaacaacaacaacaaACAGGATG 0.387 3 4 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84740804 84740805 + RNA DEL AG AG - TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr3:84740804_84740805delAG ENST00000484892.1 - 0 2354 NR_033860.1 tggaaaccccagaaggataaga 0.421 2 4 --- --- --- --- HECTD1 25831 broad.mit.edu 37 14 31602754 31602755 + Frame_Shift_Ins INS - - T TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr14:31602754_31602755insT ENST00000399332.1 - 23 4193_4194 c.3705_3706insA c.(3703-3708)gatttafs p.DL1235fs HECTD1_ENST00000553700.1_Frame_Shift_Ins_p.DL1235fs NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1235 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GTGCCATAAAGTTCGAATCCAG 0.376 45 56 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 64039192 64039192 + Frame_Shift_Del DEL G G - TCGA-FS-A1ZG-06A-11D-A197-08 TCGA-FS-A1ZG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12d3df2b-80aa-46ac-8a04-e7b0e9c45ff2 98ec11e7-b2e4-4c0f-9821-2440389ef54e g.chr15:64039192delG ENST00000443617.2 - 12 2532 c.2445delC c.(2443-2445)ctfs p.L815fs NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 815 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CCTGCCTCCCGAGAATGCTGG 0.478 2 4 --- --- --- ---