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 OR2T8 343172 broad.mit.edu 37 1 248084558 248084558 + Missense_Mutation SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr1:248084558C>T ENST00000319968.4 + 1 239 c.239C>T c.(238-240)gCg>gTg p.A80V NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A80G(1)|p.A80V(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCCAAAATGGCGGCTGACTAC 0.577000 5 87 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62045515 62045515 + Missense_Mutation SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr17:62045515C>T ENST00000435607.1 - 6 980 c.904G>A c.(904-906)Ggc>Agc p.G302S SCN4A_ENST00000578147.1_Missense_Mutation_p.G302S NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 302 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GTGTCATTGCCGTACCACGTG 0.552000 7 145 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32063700 32063700 + Missense_Mutation SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr6:32063700C>T ENST00000375244.3 - 3 2131 c.1930G>A c.(1930-1932)Ggc>Agc p.G644S TNXB_ENST00000375247.2_Missense_Mutation_p.G644S|TNXB_ENST00000479795.1_Missense_Mutation_p.G644S P22105 TENX_HUMAN tenascin XB 644 EGF-like 16. 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 CAGGTAGGGCCGGTGTAGCCT 0.687000 8 11 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14647098 14647098 + Missense_Mutation SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr7:14647098C>T ENST00000403951.2 - 17 1816 c.1397G>A c.(1396-1398)cGt>cAt p.R466H DGKB_ENST00000444700.2_Missense_Mutation_p.R447H|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.R458H|DGKB_ENST00000406247.3_Missense_Mutation_p.R466H|DGKB_ENST00000399322.3_Missense_Mutation_p.R466H|DGKB_ENST00000402815.1_Missense_Mutation_p.R465H|DGKB_ENST00000258767.5_Missense_Mutation_p.R466H Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 466 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GTAAACCTGACGAGGATTTAA 0.279000 5 26 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14359623 14359623 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr5:14359623G>A ENST00000344204.4 + 13 2398 c.2374G>A c.(2374-2376)Gag>Aag p.E792K TRIO_ENST00000537187.1_Missense_Mutation_p.E792K|TRIO_ENST00000509967.2_Missense_Mutation_p.E743K NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 792 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GCGCATCTTCGAGAGGGACGC 0.662000 10 53 0 0 1 0 0 FAM217B 63939 broad.mit.edu 37 20 58519366 58519366 + Missense_Mutation SNP A A G TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr20:58519366A>G ENST00000358293.3 + 5 783 c.368A>G c.(367-369)gAt>gGt p.D123G FAM217B_ENST00000360816.3_Missense_Mutation_p.D123G|FAM217B_ENST00000469084.1_Intron NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 123 GAAGAAATTGATCCAGTTTAC 0.458000 27 46 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227659846 227659846 + Silent SNP T T G TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr2:227659846T>G ENST00000305123.4 - 1 4629 c.3609A>C c.(3607-3609)ccA>ccC p.P1203P IRS1_ENST00000498335.1_5'UTR NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 1203 Pro-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GGGGTGGGGGTGGGGGAGGCT 0.582000 5 20 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242373718 242373718 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr2:242373718G>A ENST00000264042.3 + 10 1183 c.1013G>A c.(1012-1014)gGc>gAc p.G338D FARP2_ENST00000545004.1_Missense_Mutation_p.G338D|FARP2_ENST00000373287.4_Missense_Mutation_p.G338D NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 338 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TTCAGCCGGGGCTCCTCCTTC 0.463000 4 41 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38968362 38968362 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr19:38968362G>A ENST00000355481.4 + 30 4437 c.4306G>A c.(4306-4308)Gtg>Atg p.V1436M RYR1_ENST00000360985.3_Missense_Mutation_p.V1436M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1436M NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1436 6 X approximate repeats.|B30.2/SPRY 3. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATTACTCCGTGAGGGTCTT 0.587000 10 25 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50555697 50555697 + Silent SNP C C T rs144983844 TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr22:50555697C>T ENST00000262794.5 + 9 1454 c.1371C>T c.(1369-1371)cgC>cgT p.R457R MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.R457R|MOV10L1_ENST00000545383.1_Silent_p.R457R|MOV10L1_ENST00000540615.1_Silent_p.R437R NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 457 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TTGCTGCGCGCGAACCATTTT 0.428000 18 67 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861284 55861284 + Silent SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr11:55861284G>A ENST00000302124.2 + 1 532 c.501G>A c.(499-501)gcG>gcA p.A167A OR8I2_ENST00000560768.1_Silent_p.A167A Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GCAGTTTGGCGTTCTGTGATT 0.443000 4 119 0 0 1 0 0 ARSE 415 broad.mit.edu 37 X 2856153 2856153 + Silent SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chrX:2856153G>A ENST00000545496.1 - 10 1638 c.1347C>T c.(1345-1347)ggC>ggT p.G449G ARSE_ENST00000540563.1_Silent_p.G379G|ARSE_ENST00000381134.3_Silent_p.G424G P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 424 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGGGCACCTCGCCGCCCGCCA 0.597000 3 39 0 0 1 0 0 MOGAT2 80168 broad.mit.edu 37 11 75438518 75438518 + Nonsense_Mutation SNP C C A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr11:75438518C>A ENST00000526712.1 + 2 836 c.63C>A c.(61-63)taC>taA p.Y21* MOGAT2_ENST00000198801.5_Nonsense_Mutation_p.Y103* Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 103 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) CTCGGAACTACATTGCGGGCT 0.632000 3 33 0.115264 0.115264 1 1 0 IGHV1-58 0 broad.mit.edu 37 14 107078510 107078510 + RNA SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr14:107078510C>T ENST00000390628.2 - 0 274 CCACTGCCAACGACGATCCAT 0.532000 25 90 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186304579 186304579 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr1:186304579G>A ENST00000367478.3 - 34 5098 c.4802C>T c.(4801-4803)gCg>gTg p.A1601V NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1601 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.A1602V(1)|p.A1601V(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GGACTTTAGCGCAGTAATGCG 0.423000 T NTRK1 papillary thyroid 7 109 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117849182 117849182 + Silent SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr9:117849182G>A ENST00000350763.4 - 3 1239 c.828C>T c.(826-828)ggC>ggT p.G276G TNC_ENST00000346706.3_Silent_p.G276G|TNC_ENST00000542877.1_Silent_p.G276G|TNC_ENST00000341037.4_Silent_p.G276G|TNC_ENST00000423613.2_Silent_p.G276G|TNC_ENST00000340094.3_Silent_p.G276G|TNC_ENST00000537320.1_Silent_p.G276G|TNC_ENST00000345230.3_Silent_p.G276G|TNC_ENST00000535648.1_Silent_p.G276G NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 276 EGF-like 4. 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 TGCAGTCATCGCCTGCAAAGC 0.567000 7 60 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10369613 10369613 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr17:10369613G>A ENST00000255381.2 - 4 435 c.325C>T c.(325-327)Cgt>Tgt p.R109C CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 109 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTGCGTAACGCTCTTTGAGG 0.458000 3 56 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292811 102292811 + RNA SNP C C A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr15:102292811C>A ENST00000561463.1 + 0 857 p.R133R(1) CCTGCACTCGCGTGGGAACGA 0.607000 4 20 0.000602214 0.000636627 1 1 0 GLIS1 148979 broad.mit.edu 37 1 53995493 53995493 + Missense_Mutation SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr1:53995493C>T ENST00000312233.2 - 4 1494 c.928G>A c.(928-930)Gcc>Acc p.A310T NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 310 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 TGGTGCTTGGCGCGGTCGCTG 0.647000 3 64 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50025308 50025308 + Missense_Mutation SNP C C T rs149751647 TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr12:50025308C>T ENST00000261897.1 + 2 676 c.125C>T c.(124-126)gCg>gTg p.A42V PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V|PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 48 Pro-rich. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCAATGGGGGCGCCACCACCA 0.612000 14 50 0 0 1 0 0 IVD 3712 broad.mit.edu 37 15 40707600 40707600 + Splice_Site SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr15:40707600G>A ENST00000249760.2 + 9 1222 c.878_splice c.e9-1 p.G293_splice IVD_ENST00000487418.2_Splice_Site_p.G296_splice|IVD_ENST00000479013.2_Splice_Site_p.G266_splice NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 293 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) TTTCTGACAGGCTCATGCAAG 0.602000 3 28 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 11 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140712483 140712483 + Silent SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr5:140712483C>T ENST00000517417.1 + 1 2232 c.2232C>T c.(2230-2232)gaC>gaT p.D744D PCDHGA1_ENST00000378105.3_Silent_p.D744D NM_018912.2 NP_061735.1 p.D744D(3) breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCGTGGACGGGGTTCGGG 0.637000 24 86 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 3 9 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66980239 66980239 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr17:66980239G>A ENST00000340001.4 - 35 4668 c.4457C>T c.(4456-4458)gCg>gTg p.A1486V ABCA9_ENST00000453985.2_Missense_Mutation_p.A1448V|ABCA9_ENST00000370732.2_3'UTR NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1486 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GTCACACACCGCCTCAGCCTC 0.572000 9 38 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155157233 155157233 + Missense_Mutation SNP T T A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr4:155157233T>A ENST00000357232.3 - 25 7205 c.7206A>T c.(7204-7206)aaA>aaT p.K2402N NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2402 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTGCATCACCTTTGTCTTTGG 0.428000 6 95 0 0 1 0 0 EMX1 2016 broad.mit.edu 37 2 73161021 73161021 + Missense_Mutation SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr2:73161021C>T ENST00000258106.6 + 3 1189 c.811C>T c.(811-813)Cgg>Tgg p.R271W EMX1_ENST00000394111.5_3'UTR NM_004097.2 NP_004088.2 Q04741 EMX1_HUMAN empty spiracles homeobox 1 238 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(3) 6 TCACATCAACCGGTGGCGCAT 0.582000 11 25 0 0 1 0 0 INHBE 83729 broad.mit.edu 37 12 57849952 57849952 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr12:57849952G>A ENST00000266646.2 + 2 590 c.374G>A c.(373-375)cGc>cAc p.R125H INHBE_ENST00000551553.1_3'UTR NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 125 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 TACCATGCCCGCCTGTGGCTG 0.602000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 77 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1043361 1043361 + Silent SNP C C T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr19:1043361C>T ENST00000263094.6 + 9 1050 c.819C>T c.(817-819)gcC>gcT p.A273A ABCA7_ENST00000433129.1_Silent_p.A273A|ABCA7_ENST00000435683.2_Silent_p.A135A NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 273 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGATTGGAGCCCTGGACAGCC 0.642000 12 37 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92534952 92534952 + Missense_Mutation SNP G G A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr11:92534952G>A ENST00000298047.6 + 9 8790 c.8773G>A c.(8773-8775)Gcg>Acg p.A2925T FAT3_ENST00000409404.2_Missense_Mutation_p.A2925T|FAT3_ENST00000525166.1_Missense_Mutation_p.A2775T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2925 Cadherin 27. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.A2925T(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCAGTCTTCGCGCAGGAAGT 0.562000 TCGA Ovarian(4;0.039) 4 77 0 0 1 0 0 POLR1B 84172 broad.mit.edu 37 2 113300244 113300244 + Missense_Mutation SNP T T A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr2:113300244T>A ENST00000263331.5 + 1 753 c.173T>A c.(172-174)gTg>gAg p.V58E POLR1B_ENST00000541869.1_Missense_Mutation_p.V96E|POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000409894.3_Missense_Mutation_p.V58E|POLR1B_ENST00000417433.2_Missense_Mutation_p.V58E NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 58 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 GGCCTCGCGGTGCAGGTGAGC 0.677000 4 7 0 0 1 0 0 ANKRD1 27063 broad.mit.edu 37 10 92677496 92677496 + Missense_Mutation SNP C C A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr10:92677496C>A ENST00000371697.3 - 5 793 c.545G>T c.(544-546)cGt>cTt p.R182L NM_014391.2 NP_055206.2 Q15327 ANKR1_HUMAN ankyrin repeat domain 1 (cardiac muscle) 182 cellular lipid metabolic process|defense response|signal transduction DNA binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1) 27 Colorectal(252;0.0475) TACCATATCACGGAATTCGAT 0.413000 10 21 7.48243e-07 8.14264e-07 1 1 0 HSPA8 3312 broad.mit.edu 37 11 122930969 122930969 + Missense_Mutation SNP G G T rs141156763 by1000genomes TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr11:122930969G>T ENST00000534624.1 - 4 695 c.419C>A c.(418-420)aCc>aAc p.T140N HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.T140N|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.T140N|HSPA8_ENST00000453788.2_Missense_Mutation_p.T140N NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 140 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CACAGCATTGGTAACAGTCTA 0.393000 8 77 0.0477658 0.0490926 1 1 0 AC096649.3 0 broad.mit.edu 37 2 176190119 176190259 + RNA DEL GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT - rs148912092 by1000genomes TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT ENST00000438963.1 + 0 247 gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa 0.440 20 98 --- --- --- --- POLQ 10721 broad.mit.edu 37 3 121207488 121207489 + Frame_Shift_Ins INS - - A TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr3:121207488_121207489insA ENST00000264233.5 - 16 4417_4418 c.4289_4290insT c.(4288-4290)taafs p.*1430fs NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1430 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CATTCTTTTTTAAAAAAAGACC 0.342 DNA polymerases (catalytic subunits) 12 58 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145849150 145849151 + Frame_Shift_Ins INS - - CC TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr5:145849150_145849151insCC ENST00000296702.5 + 7 1280_1281 c.1242_1243insCC c.(1240-1245)cacccafs p.HP414fs TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.HP393fs NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 414 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCATGATACATCCCCAGGTTGC 0.386 54 156 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 5 3 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 2 4 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 6 9 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605693 42605694 + Frame_Shift_Ins INS - - T TCGA-VP-A872-01A-11D-A34U-08 TCGA-VP-A872-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a653276f-248d-4ffc-9198-d713cdcee5bd b941d9f4-c0bf-4f8c-8360-2d69964f2e8a g.chr22:42605693_42605694insT ENST00000359486.3 - 1 5754_5755 c.5618_5619insA c.(5617-5619)tggfs p.W1873fs TCF20_ENST00000404876.1_Frame_Shift_Ins_p.W174fs|TCF20_ENST00000335626.4_Frame_Shift_Ins_p.W1873fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1873 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CCTGCAGGCCATAGAGCCTGCC 0.446 8 195 --- --- --- ---