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 B4GALNT2 124872 broad.mit.edu 37 17 47241556 47241556 + Silent SNP C C T TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr17:47241556C>T ENST00000300404.2 + 8 1112 c.1053C>T c.(1051-1053)acC>acT p.T351T B4GALNT2_ENST00000504681.1_Silent_p.T265T|B4GALNT2_ENST00000393354.2_Silent_p.T291T NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 351 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity p.T351T(1) endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CAGACTTGACCGTAATAGTGG 0.483000 74 109 0 0 1 0 0 CHEK2P2 0 broad.mit.edu 37 15 20496770 20496770 + RNA SNP T T C rs3865047 by1000genomes TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr15:20496770T>C ENST00000555186.1 + 0 823 NR_038836.1 TTATAGTGTGTATTTTAATTA 0.353000 4 46 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169116337 169116337 + Splice_Site SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr5:169116337G>A ENST00000256935.8 + 9 923 c.843_splice c.e9+1 p.T281_splice NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 281 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGTCTTCACGGTGAGTGTGC 0.547000 3 64 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099289 50099289 + Missense_Mutation SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr19:50099289G>A ENST00000418929.2 + 4 1709 c.1697G>A c.(1696-1698)cGt>cAt p.R566H NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 330 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CACATCATTCGTCCGCTCCAG 0.672000 3 45 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104356987 104356987 + Missense_Mutation SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr10:104356987G>A ENST00000369902.3 + 7 1013 c.847G>A c.(847-849)Gag>Aag p.E283K SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.E283K|SUFU_ENST00000369899.2_Missense_Mutation_p.E283K NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 283 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding p.E283K(1) breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) CCGGCCCCCCGAGGATGACGA 0.602000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation OREG0020482 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 71 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11213626 11213626 + Missense_Mutation SNP C C T TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr6:11213626C>T ENST00000379446.5 - 2 513 c.347G>A c.(346-348)gGa>gAa p.G116E NEDD9_ENST00000379433.5_Missense_Mutation_p.G116E|NEDD9_ENST00000504387.1_Missense_Mutation_p.G116E|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 116 Interacts strongly with spindle- regulatory protein D1M1. actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TTGGTAAATTCCCTGATTTTG 0.552000 46 66 0 0 1 0 0 NSUN5 55695 broad.mit.edu 37 7 72718793 72718793 + Missense_Mutation SNP C C T TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr7:72718793C>T ENST00000428206.1 - 6 605 c.592G>A c.(592-594)Gcc>Acc p.A198T NSUN5_ENST00000310326.8_Missense_Mutation_p.A236T|NSUN5_ENST00000252594.6_Missense_Mutation_p.A236T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A236T NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 236 methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) TTGCCTGGGGCGGCACAGGCA 0.597000 4 52 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234847747 234847747 + Missense_Mutation SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr2:234847747G>A ENST00000324695.4 + 5 494 c.454G>A c.(454-456)Gcc>Acc p.A152T TRPM8_ENST00000409625.1_Missense_Mutation_p.A75T|TRPM8_ENST00000355722.4_Missense_Mutation_p.A102T|TRPM8_ENST00000433712.2_5'UTR NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 152 integral to membrane p.A152T(2) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GACCGGGGGCGCCAAGAACTT 0.607000 5 71 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684511 100684511 + Missense_Mutation SNP C C T TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr7:100684511C>T ENST00000306151.4 + 3 9878 c.9814C>T c.(9814-9816)Cca>Tca p.P3272S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3272 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.502000 7 852 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76939354 76939354 + Nonsense_Mutation SNP G G C TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chrX:76939354G>C ENST00000373344.5 - 9 1608 c.1394C>G c.(1393-1395)tCa>tGa p.S465* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S427* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 465 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) CTGTTTTCTTGAAAGTTTAGC 0.353000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 141 245 0 0 1 0 0 OLR1 4973 broad.mit.edu 37 12 10312559 10312559 + Nonsense_Mutation SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr12:10312559G>A ENST00000309539.3 - 6 802 c.742C>T c.(742-744)Cga>Tga p.R248* OLR1_ENST00000432556.2_3'UTR|OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_3'UTR NM_002543.3 NP_002534.1 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) receptor 1 248 C-type lectin. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 ACAGCTCCTCGTTGTATATAT 0.428000 51 85 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 5 43 0 0 1 0 0 RCC2 55920 broad.mit.edu 37 1 17735688 17735688 + Silent SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr1:17735688G>A ENST00000375436.4 - 13 1654 c.1467C>T c.(1465-1467)gtC>gtT p.V489V RCC2_ENST00000375433.3_Silent_p.V489V NM_018715.3 NP_061185.1 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 489 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) AGCCCATGGCGACCTGGGGGG 0.522000 25 66 0 0 1 0 0 UTP3 57050 broad.mit.edu 37 4 71555330 71555330 + Silent SNP C C A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr4:71555330C>A ENST00000254803.2 + 1 1135 c.936C>A c.(934-936)tcC>tcA p.S312S NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 312 brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ACAAGCTGTCCGTTGTGGATC 0.418000 17 264 2.35188e-11 2.5594e-11 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 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 32 54 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) 9 16 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219297657 219297657 + Missense_Mutation SNP C C A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr2:219297657C>A ENST00000248444.5 + 13 1571 c.1483C>A c.(1483-1485)Cgc>Agc p.R495S VIL1_ENST00000392114.2_Missense_Mutation_p.R184S NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 495 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.R495C(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTCAAGGGACGCATGGTGGT 0.562000 3 42 0.004672 0.00480178 1 1 0 PCDHB4 0 broad.mit.edu 37 5 140503914 140503914 + Silent SNP C C G TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr5:140503914C>G ENST00000194152.1 + 1 2334 c.2334C>G c.(2332-2334)acC>acG p.T778T NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 778 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCAGGACACCGGGAGGGAAG 0.448000 49 59 0 0 1 0 0 IGHV3-43 0 broad.mit.edu 37 14 106926482 106926482 + RNA SNP T T C TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr14:106926482T>C ENST00000434710.1 - 0 139 CCAGCTGCACTTCACACTGGA 0.527000 4 107 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179440352 179440352 + Missense_Mutation SNP A A C TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr2:179440352A>C ENST00000589042.1 - 326 70731 c.70507T>G c.(70507-70509)Tgt>Ggt p.C23503G TTN_ENST00000342175.6_Missense_Mutation_p.C14630G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C14438G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C21862G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C14563G|TTN_ENST00000342992.6_Missense_Mutation_p.C20935G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21862 Ig-like 119. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAATATTCACACCCTTCAGAC 0.438000 10 91 0 0 1 0 0 RBM25 58517 broad.mit.edu 37 14 73572994 73572994 + Splice_Site SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr14:73572994G>A ENST00000261973.7 + 12 1752 c.e12+1 RBM25_ENST00000527432.1_Splice_Site|RBM25_ENST00000532483.1_Splice_Site NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) AAGAGAAATGGTAAGATTCTA 0.328000 12 24 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123518249 123518249 + Missense_Mutation SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chrX:123518249G>A ENST00000422452.2 - 30 6595 c.6532C>T c.(6532-6534)Cgt>Tgt p.R2178C TENM1_ENST00000371130.3_Missense_Mutation_p.R2171C|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TAACTATAACGCCACTGGGTT 0.448000 45 105 0 0 1 0 0 CHM 1121 broad.mit.edu 37 X 85218743 85218743 + Missense_Mutation SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chrX:85218743G>A ENST00000357749.2 - 5 658 c.629C>T c.(628-630)cCa>cTa p.P210L CHM_ENST00000537751.1_Missense_Mutation_p.P62L|CHM_ENST00000467744.1_Intron NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 210 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) GTTTTTCTTTGGTTGCTCTGT 0.333000 42 66 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767582 31767582 + Silent SNP A A G TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr19:31767582A>G ENST00000240587.4 - 2 3444 c.3117T>C c.(3115-3117)acT>acC p.T1039T NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 1039 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) ACTGATAGGAAGTCCCCAGGT 0.488000 21 28 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19629023 19629023 + Missense_Mutation SNP G G T TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr21:19629023G>T ENST00000299295.2 + 2 668 c.277G>T c.(277-279)Ggg>Tgg p.G93W CHODL_ENST00000400128.1_Missense_Mutation_p.G52W|CHODL_ENST00000400135.1_Missense_Mutation_p.G52W|CHODL_ENST00000543733.1_Missense_Mutation_p.G74W|CHODL_ENST00000400127.1_Missense_Mutation_p.G52W|CHODL_ENST00000400131.1_Missense_Mutation_p.G52W|CHODL_ENST00000338326.3_Missense_Mutation_p.G52W NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 93 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) ACCCGGGACAGGGATTTCTGA 0.498000 4 61 0.00909568 0.00909568 1 1 0 SYCP1 6847 broad.mit.edu 37 1 115488993 115488993 + Silent SNP A A G TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr1:115488993A>G ENST00000369522.3 + 26 2478 c.2238A>G c.(2236-2238)agA>agG p.R746R SYCP1_ENST00000369518.1_Silent_p.R746R NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 746 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CATCACTGAGAGCATCTTTGG 0.323000 4 90 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62196717 62196717 + Missense_Mutation SNP C C T TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr20:62196717C>T ENST00000467148.1 - 8 3527 c.3458G>A c.(3457-3459)gGc>gAc p.G1153D HELZ2_ENST00000427522.2_Missense_Mutation_p.G584D NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CTGGATGGGGCCCGAGGAGGC 0.697000 13 6 0 0 1 0 0 ZNF703 80139 broad.mit.edu 37 8 37556023 37556023 + Missense_Mutation SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr8:37556023G>A ENST00000331569.4 + 2 1833 c.1604G>A c.(1603-1605)cGg>cAg p.R535Q NM_025069.1 NP_079345.1 Q9H7S9 ZN703_HUMAN zinc finger protein 703 535 adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding FGFR1/ZNF703(2) breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) CTGTCCTTGCGGAATCCACAC 0.751000 7 7 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22438138 22438138 + Silent SNP G G A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr4:22438138G>A ENST00000334304.5 - 9 1481 c.1212C>T c.(1210-1212)ggC>ggT p.G404G GPR125_ENST00000502482.1_Silent_p.G404G|GPR125_ENST00000508133.1_Silent_p.G178G|GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 404 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CTGCCCAAAAGCCACCTCTAT 0.438000 25 47 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123663835 123663835 + Splice_Site SNP T T A TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chrX:123663835T>A ENST00000422452.2 - 16 2715 c.e16-2 TENM1_ENST00000371130.3_Splice_Site NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CAGGCACGCCTGCAACACAAG 0.428000 5 64 0 0 1 0 0 LINC00303 0 broad.mit.edu 37 1 204010206 204010206 + RNA DEL A A - TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr1:204010206delA ENST00000367207.3 - 0 174 CCCCTGGCTTAATTATTTGCA 0.478 2 4 --- --- --- --- ATP10D 57205 broad.mit.edu 37 4 47517508 47517509 + Frame_Shift_Del DEL TT TT - TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr4:47517508_47517509delTT ENST00000273859.3 + 3 575_576 c.306_307delTT c.(304-309)tatcfs p.YF102fs ATP10D_ENST00000504445.1_Frame_Shift_Del_p.YF102fs NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 102 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CCAATTTATATTTCCTGTTCCT 0.421 52 67 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64395000 64395000 + Frame_Shift_Del DEL A A - TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr6:64395000delA ENST00000262043.3 + 4 1717 c.1377delA c.(1375-1377)atfs p.I459fs PHF3_ENST00000393387.1_Frame_Shift_Del_p.I459fs|PHF3_ENST00000509330.1_Frame_Shift_Del_p.I459fs Q92576 PHF3_HUMAN PHD finger protein 3 459 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GTACTAAAATAGAGTCCCATG 0.358 46 64 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 5 3 --- --- --- --- SCARNA6 0 broad.mit.edu 37 16 21598984 21598985 + RNA INS - - T TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr16:21598984_21598985insT ENST00000516989.1 + 0 37_38 ccagcagcCCATTTTTTTTTTC 0.366 3 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577600 7577600 + Frame_Shift_Del DEL A A - TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr17:7577600delA ENST00000420246.2 - 7 813 c.681delT c.(679-681)tcfs p.S227fs TP53_ENST00000445888.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S227fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S227fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 227 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> C (in sporadic cancers; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> T (in LFS; germline mutation and in a sporadic cancer; 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.0?(8)|p.?(5)|p.S227S(3)|p.?fs(2)|p.V225_S227delVGS(2)|p.S227fs*1(1)|p.G226_D228delGSD(1)|p.D228fs*1(1)|p.V225fs*23(1)|p.S227_I232delSDCTTI(1)|p.D228fs*19(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) TGGTACAGTCAGAGCCAACCT 0.522 111 """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) 19 25 --- --- --- --- ITSN1 6453 broad.mit.edu 37 21 35237613 35237613 + Frame_Shift_Del DEL C C - TCGA-QH-A870-01A-11D-A36O-08 TCGA-QH-A870-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21c70b19-0954-49d7-bc5b-f8acc395a327 e3089585-00a8-498f-9edc-e7ebf283be39 g.chr21:35237613delC ENST00000381318.3 + 32 4337 c.4049delC c.(4048-4050)gcfs p.A1350fs AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.A1350fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.A1345fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.A1345fs NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1350 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 ACGGATGAGGCCCCAGACTTC 0.607 2 4 --- --- --- ---