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 MALT1 10892 broad.mit.edu 37 18 56363642 56363642 + Missense_Mutation SNP G G A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr18:56363642G>A ENST00000348428.3 + 3 679 c.421G>A c.(421-423)Gga>Aga p.G141R RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G141R NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 141 Ig-like C2-type 1. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 AGTCTTGGCTGGACAGTTTGT 0.313000 T BIRC3 MALT 3 41 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579699 7579699 + Splice_Site SNP C C T TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr17:7579699C>T ENST00000420246.2 - 3 229 c.e3+1 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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) CTTGTCCTTACCAGAACGTTG 0.597000 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) 21 24 0 0 1 0 0 ELF4 2000 broad.mit.edu 37 X 129205311 129205311 + Splice_Site SNP C C T TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chrX:129205311C>T ENST00000308167.5 - 6 995 c.616_splice c.e6+1 p.G206_splice ELF4_ENST00000335997.7_Splice_Site_p.G206_splice NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 206 RUNX1-binding. natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CTGTCCATACCTTTGCCATCC 0.612000 T ERG AML 10 23 0 0 1 0 0 CCDC110 256309 broad.mit.edu 37 4 186379853 186379853 + Missense_Mutation SNP G G A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr4:186379853G>A ENST00000307588.3 - 6 1963 c.1888C>T c.(1888-1890)Ctt>Ttt p.L630F CCDC110_ENST00000393540.3_Missense_Mutation_p.L593F|CCDC110_ENST00000510617.1_Missense_Mutation_p.L630F NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 630 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) ATTTGAAGAAGTGTCTCTTGT 0.328000 24 67 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25921307 25921307 + Silent SNP T T A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr6:25921307T>A ENST00000377850.3 - 5 1013 c.489A>T c.(487-489)acA>acT p.T163T SLC17A2_ENST00000360488.3_Silent_p.T163T|SLC17A2_ENST00000265425.3_Silent_p.T163T O00624 NPT3_HUMAN solute carrier family 17, member 2 163 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TAAACTGACCTGTCCATGCCA 0.433000 13 22 0 0 1 0 0 IL36G 56300 broad.mit.edu 37 2 113742562 113742562 + Missense_Mutation SNP T T A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr2:113742562T>A ENST00000259205.4 + 5 515 c.446T>A c.(445-447)aTc>aAc p.I149N IL36G_ENST00000376489.2_Missense_Mutation_p.I114N NM_019618.2 NP_062564.1 Q9NZH8 IL36G_HUMAN interleukin 36, gamma 149 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GACCAGCCCATCATTCTGACT 0.488000 4 47 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101374 27101374 + Silent SNP G G A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr1:27101374G>A ENST00000324856.7 + 18 5027 c.4656G>A c.(4654-4656)caG>caA p.Q1552Q ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.Q1169Q|ARID1A_ENST00000457599.2_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1552 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCACACGCCAGCCCCCATATG 0.597000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 10 13 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 3 54 0.115264 0.115264 1 1 0 TACC2 10579 broad.mit.edu 37 10 123843843 123843843 + Missense_Mutation SNP G G C TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr10:123843843G>C ENST00000369005.1 + 4 2168 c.1828G>C c.(1828-1830)Gta>Cta p.V610L TACC2_ENST00000334433.3_Missense_Mutation_p.V610L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.V610L|TACC2_ENST00000515273.1_Missense_Mutation_p.V610L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.V610L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 610 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGATCCAGAAGTAGGCAAAGA 0.572000 13 19 0 0 1 0 0 CTD-2207O23.3 0 broad.mit.edu 37 19 7531821 7531821 + Missense_Mutation SNP G G A rs79986215 byFrequency TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr19:7531821G>A ENST00000593531.1 + 17 2231 c.2231G>A c.(2230-2232)cGg>cAg p.R744Q ARHGEF18_ENST00000359920.6_Silent_p.T786T|ARHGEF18_ENST00000319670.9_Silent_p.T628T CGCCAGGCACGGAATCCGATC 0.627000 37 52 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26684997 26684997 + Missense_Mutation SNP C C T TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr2:26684997C>T ENST00000272371.2 - 42 5371 c.5245G>A c.(5245-5247)Gac>Aac p.D1749N OTOF_ENST00000339598.3_Missense_Mutation_p.D982N|OTOF_ENST00000338581.6_Missense_Mutation_p.D982N|OTOF_ENST00000403946.3_Missense_Mutation_p.D1749N|OTOF_ENST00000402415.3_Missense_Mutation_p.D1059N NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1749 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAAGTCGTCGTCCTCCAAG 0.607000 6 127 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219251432 219251432 + Silent SNP G G A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr2:219251432G>A ENST00000233202.6 + 5 808 c.468G>A c.(466-468)acG>acA p.T156T SLC11A1_ENST00000539932.1_Silent_p.T38T NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 156 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCATCGGCACGGCCATTGCAT 0.582000 11 14 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187532792 187532792 + Missense_Mutation SNP C C T TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr4:187532792C>T ENST00000441802.2 - 14 9810 c.9601G>A c.(9601-9603)Gct>Act p.A3201T NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3201 Cadherin 29. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGATCCACAGCTTTCAAAGAG 0.453000 HNSCC(5;0.00058) 4 12 0 0 1 0 0 PLEKHA4 0 broad.mit.edu 37 19 49348627 49348627 + Splice_Site SNP C C G TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr19:49348627C>G ENST00000263265.6 - 16 2298 c.1743_splice c.e16+1 p.K581_splice PLEKHA4_ENST00000355496.5_Splice_Site_p.K556_splice NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 581 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) TACAGCTTACCTTGGTTCCTA 0.572000 19 34 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 25 26 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3084667 3084667 + Missense_Mutation SNP T T A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr3:3084667T>A ENST00000397461.1 + 21 2902 c.2518T>A c.(2518-2520)Tat>Aat p.Y840N CNTN4_ENST00000397459.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000448906.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000418658.1_Missense_Mutation_p.Y840N|CNTN4_ENST00000427331.1_Missense_Mutation_p.Y840N|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000358480.3_Missense_Mutation_p.Y621N NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 840 Fibronectin type-III 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TTAGGTTAAATATTGGAGACA 0.353000 13 23 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158641928 158641928 + Missense_Mutation SNP C C T TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr1:158641928C>T ENST00000368148.3 - 11 1589 c.1409G>A c.(1408-1410)cGt>cAt p.R470H SPTA1_ENST00000368147.3_Missense_Mutation_p.R470H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 470 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTCATACTGACGATGACGCTC 0.453000 31 23 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577096 7577096 + Missense_Mutation SNP T T A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr17:7577096T>A ENST00000420246.2 - 8 974 c.842A>T c.(841-843)gAc>gTc p.D281V TP53_ENST00000445888.2_Missense_Mutation_p.D281V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000269305.4_Missense_Mutation_p.D281V|TP53_ENST00000359597.4_Missense_Mutation_p.D281V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 281 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation). 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.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(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) TGTGCGCCGGTCTCTCCCAGG 0.552000 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) 10 26 0 0 1 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157873 65157873 + Missense_Mutation SNP C C T TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr15:65157873C>T ENST00000323544.4 + 6 1387 c.1259C>T c.(1258-1260)tCg>tTg p.S420L AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 420 NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 AAGGTGGCCTCGGAACAGACG 0.632000 3 14 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128862012 128862012 + Missense_Mutation SNP A A G TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr5:128862012A>G ENST00000274487.4 + 4 1076 c.931A>G c.(931-933)Agt>Ggt p.S311G CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 311 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AATAGCAGAAAGTGGAAGAGG 0.363000 21 22 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153133835 153133835 + Missense_Mutation SNP G G A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chrX:153133835G>A ENST00000370060.1 - 14 1814 c.1625C>T c.(1624-1626)tCc>tTc p.S542F L1CAM_ENST00000361699.4_Missense_Mutation_p.S542F|L1CAM_ENST00000543994.1_Missense_Mutation_p.S544F|L1CAM_ENST00000538883.1_Missense_Mutation_p.S544F|L1CAM_ENST00000361981.3_Missense_Mutation_p.S537F|L1CAM_ENST00000370055.1_Missense_Mutation_p.S537F|L1CAM_ENST00000370057.3_Missense_Mutation_p.S542F NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 542 Ig-like C2-type 6. S -> P (in HSAS). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGTCAAAGGAGGCCTGGCA 0.602000 72 108 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37447581 37447581 + Missense_Mutation SNP T T C TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr2:37447581T>C ENST00000234170.5 - 5 2246 c.2101A>G c.(2101-2103)Aga>Gga p.R701G NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 701 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) AGAGGGTTTCTACTGAATGGA 0.308000 8 13 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 36993276 36993276 + Missense_Mutation SNP C C T TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr20:36993276C>T ENST00000217407.2 + 8 952 c.791C>T c.(790-792)gCt>gTt p.A264V NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 264 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) ACCCTCCTTGCTGCAGTCATG 0.488000 57 66 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47731973 47731973 + Missense_Mutation SNP T T C TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr11:47731973T>C ENST00000525123.1 - 4 473 c.188A>G c.(187-189)aAa>aGa p.K63R AGBL2_ENST00000528244.1_Missense_Mutation_p.K63R|AGBL2_ENST00000357610.3_Missense_Mutation_p.K63R|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.K63R NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 63 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 CAAATCATCTTTTTCCCCAAG 0.433000 7 120 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5066179 5066179 + Splice_Site SNP A A G TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr17:5066179A>G ENST00000574788.1 + 33 5146 c.2915_splice c.e33-1 p.R972_splice USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Splice_Site_p.R655_splice|USP6_ENST00000250066.6_Splice_Site_p.R972_splice P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 972 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CCCTTTTTAGATTTTGCAGAG 0.388000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 5 159 0 0 1 0 0 TMEM19 55266 broad.mit.edu 37 12 72094726 72094726 + Missense_Mutation SNP T T C TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr12:72094726T>C ENST00000266673.5 + 6 1556 c.962T>C c.(961-963)aTt>aCt p.I321T NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 321 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) TCTGTTCTTATTGCCCTCTTG 0.463000 94 111 0 0 1 0 0 MEX3A 92312 broad.mit.edu 37 1 156046687 156046689 + In_Frame_Del DEL GAG GAG - TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr1:156046687_156046689delGAG ENST00000532414.2 - 2 1238_1240 c.1239_1241delCTC c.(1237-1242)tct>tc p.SS413del NM_001093725.1 NP_001087194.1 A1L020 MEX3A_HUMAN mex-3 RNA binding family member A 413 Poly-Ser. cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 Hepatocellular(266;0.158)|all_neural(408;0.195) CTTGGCggaagaggaggaggagg 0.744 2 4 --- --- --- --- COLQ 8292 broad.mit.edu 37 3 15516986 15516986 + Frame_Shift_Del DEL T T - TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr3:15516986delT ENST00000383785.2 - 7 599 c.474delA c.(472-474)aafs p.K158fs COLQ_ENST00000383781.4_Frame_Shift_Del_p.K148fs|COLQ_ENST00000603808.1_Frame_Shift_Del_p.K158fs|COLQ_ENST00000435459.2_Frame_Shift_Del_p.K148fs|COLQ_ENST00000383786.5_Frame_Shift_Del_p.K124fs|COLQ_ENST00000383787.2_Frame_Shift_Del_p.K149fs|COLQ_ENST00000383788.5_Frame_Shift_Del_p.K158fs Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 158 Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 CCAGGTCACCTTTTTCACCCT 0.507 2 4 --- --- --- --- KIFC1 3833 broad.mit.edu 37 6 33372952 33372953 + Frame_Shift_Del DEL GA GA - TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr6:33372952_33372953delGA ENST00000428849.2 + 7 1530_1531 c.1080_1081delGA c.(1078-1083)ctgtfs p.LS360fs NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 360 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 GTGGGACCCTGAGTGGGGCACC 0.609 55 60 --- --- --- --- INSIG1 3638 broad.mit.edu 37 7 155090103 155090105 + In_Frame_Del DEL GAT GAT - TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr7:155090103_155090105delGAT ENST00000340368.4 + 2 319_321 c.108_110delGAT c.(106-111)gag>ga p.EM36del INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_In_Frame_Del_p.EM36del NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 36 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGTTGGGGAGATGATCAACGTT 0.744 4 3 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14284600 14284600 + RNA DEL A A - rs79477301 TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr11:14284600delA ENST00000310358.7 + 0 2795 RP11-21L19.1_ENST00000534587.1_RNA Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GGACCTGTTTaaaaaaaaaaa 0.463 3 4 --- --- --- --- MKRN3 7681 broad.mit.edu 37 15 23811405 23811405 + Frame_Shift_Del DEL C C - TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr15:23811405delC ENST00000314520.3 + 1 952 c.476delC c.(475-477)gcfs p.A159fs MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 159 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GTGGCGGAAGCCCCCCCGGCT 0.642 8 14 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40368644 40368644 + Frame_Shift_Del DEL A A - TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr19:40368644delA ENST00000221347.6 - 28 12711 c.12704delT c.(12703-12705)cgfs p.L4235fs NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4235 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGAGGGAGCCAGTGTGCCATT 0.642 28 81 --- --- --- --- SEZ6L 23544 broad.mit.edu 37 22 26688782 26688783 + Frame_Shift_Ins INS - - ACCCGGACCCC TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chr22:26688782_26688783insACCCGGACCCC ENST00000529632.2 + 2 701_702 c.505_506insACCCGGACCCC c.(505-507)cccfs p.-168fs SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Frame_Shift_Ins_p.-168fs|SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.-168fs|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.-168fs|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.-168fs NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CCCACCGGGGGACCCGGACCCC 0.668 11 40 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76940492 76940493 + Frame_Shift_Ins INS - - G TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28480ed8-d453-475f-a928-b02e55a6cb6e a23c762e-4fd9-4110-9ee0-405694453b4f g.chrX:76940492_76940493insG ENST00000373344.5 - 8 814_815 c.600_601insC c.(598-603)tgttaafs p.*201fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.*163fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 201 ADD. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TAATACTTAAAGCAATTCTATT 0.292 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 63 78 --- --- --- ---