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 PCDHGA4 56111 broad.mit.edu 37 5 140734776 140734776 + Silent SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr5:140734776G>A ENST00000571252.1 + 1 9 c.9G>A c.(7-9)gcG>gcA p.A3A PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAATGGCGGCGCCTCCTGCTC 0.602000 8 42 0 0 1 0 0 TAPBPL 55080 broad.mit.edu 37 12 6567843 6567843 + Missense_Mutation SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr12:6567843G>A ENST00000266556.7 + 5 1102 c.937G>A c.(937-939)Gaa>Aaa p.E313K TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR NM_018009.4 NP_060479.3 Q9BX59 TPSNR_HUMAN TAP binding protein-like 313 Ig-like C1-type. antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 CTTGGCAAACGAAGCTCTGCT 0.552000 9 90 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94568627 94568627 + Missense_Mutation SNP C C T rs61748532 byFrequency TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr1:94568627C>T ENST00000370225.3 - 5 600 c.514G>A c.(514-516)Ggc>Agc p.G172S ABCA4_ENST00000535735.1_Missense_Mutation_p.G172S NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 172 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.G172C(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TCAGACAGGCCGATGTTTTTA 0.463000 46 207 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115368262 115368262 + Missense_Mutation SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr10:115368262G>A ENST00000369358.4 - 32 3881 c.3637C>T c.(3637-3639)Cgg>Tgg p.R1213W NRAP_ENST00000369360.3_Missense_Mutation_p.R1178W|NRAP_ENST00000360478.3_Missense_Mutation_p.R1170W|NRAP_ENST00000359988.3_Missense_Mutation_p.R1205W Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1205 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GGATGCTGCCGATATTTACTC 0.438000 20 154 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45891303 45891303 + Missense_Mutation SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr11:45891303C>T ENST00000443527.2 + 7 1214 c.1192C>T c.(1192-1194)Cgg>Tgg p.R398W CRY2_ENST00000417225.2_Missense_Mutation_p.R316W NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 377 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 CCACCTGGCCCGGCATGCCGT 0.647000 11 82 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 98 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151917678 151917678 + Silent SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr7:151917678C>T ENST00000355193.2 - 23 3860 c.3642G>A c.(3640-3642)gtG>gtA p.V1214V KMT2C_ENST00000262189.6_Silent_p.V1214V lysine (K)-specific methyltransferase 2C GAAGGACGGCCACGCTATTCT 0.393000 26 60 0 0 1 0 0 CMTM2 146225 broad.mit.edu 37 16 66613625 66613625 + Missense_Mutation SNP C C G TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr16:66613625C>G ENST00000268595.2 + 1 266 c.115C>G c.(115-117)Caa>Gaa p.Q39E CMTM2_ENST00000379486.2_Missense_Mutation_p.Q39E NM_144673.2 NP_653274.1 Q8TAZ6 CKLF2_HUMAN CKLF-like MARVEL transmembrane domain containing 2 39 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) GGACAAACCTCAAAAGGCGGT 0.627000 12 113 0 0 1 0 0 C1QBP 708 broad.mit.edu 37 17 5336447 5336447 + Missense_Mutation SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr17:5336447C>T ENST00000225698.4 - 6 818 c.737G>A c.(736-738)cGa>cAa p.R246Q C1QBP_ENST00000574444.1_Missense_Mutation_p.R142Q NM_001212.3 NP_001203.1 Q07021 C1QBP_HUMAN complement component 1, q subcomponent binding protein 246 blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms mitochondrial matrix|nucleus|plasma membrane lung(2)|ovary(1) 3 GTCCACCCCTCGGTCGGCAAG 0.413000 6 46 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145157727 145157727 + Nonsense_Mutation SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr2:145157727G>A ENST00000558170.2 - 8 2211 c.1027C>T c.(1027-1029)Cga>Tga p.R343* ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R319*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R343*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R343* NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 343 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TTTCTCATTCGGCCATTTACA 0.413000 22 34 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89953816 89953816 + Silent SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr5:89953816G>A ENST00000405460.2 + 21 4569 c.4473G>A c.(4471-4473)acG>acA p.T1491T NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1491 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGAAACTGACGCTTGAAGAAA 0.428000 31 78 0 0 1 0 0 UPF3B 65109 broad.mit.edu 37 X 118972412 118972412 + Missense_Mutation SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chrX:118972412G>A ENST00000276201.2 - 9 994 c.925C>T c.(925-927)Ctc>Ttc p.L309F UPF3B_ENST00000345865.2_Missense_Mutation_p.L296F|UPF3B_ENST00000478840.1_5'UTR NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 309 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 TCATCACTGAGATTCTCTTTG 0.378000 37 94 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971023 21971023 + Missense_Mutation SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr9:21971023C>T ENST00000304494.5 - 2 605 c.335G>A c.(334-336)cGt>cAt p.R112H CDKN2A_ENST00000498628.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000579755.1_Silent_p.P126P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000361570.3_Silent_p.P167P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R112H|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Silent_p.P126P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R61H NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 112 R -> RR (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.0(1)|p.R112P(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CACGGGCAGACGGCCCCAGGC 0.731000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 11 21 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15686110 15686110 + Missense_Mutation SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr10:15686110C>T ENST00000378076.3 - 13 1671 c.1318G>A c.(1318-1320)Gtg>Atg p.V440M NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 440 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GAGGCCCACACTCCTTGCAGA 0.443000 8 61 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89861842 89861842 + Missense_Mutation SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr15:89861842G>A ENST00000268124.5 - 21 3745 c.3412C>T c.(3412-3414)Cgc>Tgc p.R1138C POLG_ENST00000442287.2_Missense_Mutation_p.R1138C NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 1138 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) ACCAGGTAGCGAACCTCGTCA 0.582000 DNA polymerases (catalytic subunits) 8 80 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27640094 27640094 + Missense_Mutation SNP C C T rs150389178 TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr16:27640094C>T ENST00000261588.4 + 4 272 c.253C>T c.(253-255)Cgg>Tgg p.R85W NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 85 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 ATCATCACCGCGGAAAGCTAT 0.532000 12 158 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579358 7579358 + Missense_Mutation SNP C C A rs11540654 TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr17:7579358C>A ENST00000420246.2 - 4 461 c.329G>T c.(328-330)cGt>cTt p.R110L TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 110 Interaction with HIPK1 (By similarity).|Interaction with WWOX. R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (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.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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) GAAGCCCAGACGGAAACCGTA 0.612000 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) 27 50 1.66031e-10 1.81404e-10 1 1 0 SLC5A5 6528 broad.mit.edu 37 19 17983280 17983280 + Missense_Mutation SNP G G T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr19:17983280G>T ENST00000222248.3 + 1 499 c.152G>T c.(151-153)gGc>gTc p.G51V NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 51 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TTCACCGGGGGCCGGCGCCTG 0.716000 4 17 0.00024832 0.000252601 1 1 0 PIRT 644139 broad.mit.edu 37 17 10728855 10728855 + Missense_Mutation SNP C C G TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr17:10728855C>G ENST00000580256.1 - 2 746 c.108G>C c.(106-108)agG>agC p.R36S NM_001101387.1 NP_001094857.1 P0C851 PIRT_HUMAN phosphoinositide-interacting regulator of transient receptor potential channels 36 integral to membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1) 8 CAGACTCGCTCCTGGAGCTGA 0.592000 3 15 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 4 20 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145057416 145057416 + Missense_Mutation SNP C C A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr8:145057416C>A ENST00000313028.7 - 8 2435 c.2341G>T c.(2341-2343)Gct>Tct p.A781S PARP10_ENST00000524918.1_Missense_Mutation_p.A772S|PARP10_ENST00000525773.1_Missense_Mutation_p.A793S NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 781 Myc binding. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCGGGCAGCACGGGCAGGG 0.652000 9 30 0.307466 0.307466 1 1 0 ORC2 4999 broad.mit.edu 37 2 201800559 201800559 + Missense_Mutation SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr2:201800559C>T ENST00000234296.2 - 9 820 c.571G>A c.(571-573)Gat>Aat p.D191N NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 191 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 ACCCCTTCATCATCCTCTGAG 0.428000 10 59 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15299867 15299867 + Silent SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr19:15299867C>T ENST00000263388.2 - 8 1386 c.1311G>A c.(1309-1311)tcG>tcA p.S437S NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 437 EGF-like 11; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGCAGGGCCCCGACAGACACT 0.642000 5 39 0 0 1 0 0 PHF8 23133 broad.mit.edu 37 X 54014374 54014374 + Silent SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chrX:54014374C>T ENST00000338154.6 - 15 2238 c.1734G>A c.(1732-1734)acG>acA p.T578T PHF8_ENST00000338946.6_Silent_p.T477T|PHF8_ENST00000322659.8_Silent_p.T578T|PHF8_ENST00000357988.5_Silent_p.T614T NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 614 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 TCACCCTTTTCGTACTGAAGG 0.418000 11 20 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7921018 7921018 + Missense_Mutation SNP C C G TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr20:7921018C>G ENST00000378789.3 - 1 103 c.52G>C c.(52-54)Gta>Cta p.V18L NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 18 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TTTGGAAGTACTGATTTAGCA 0.343000 33 79 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100821560 100821560 + Silent SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr15:100821560C>T ENST00000268070.4 - 4 768 c.663G>A c.(661-663)gaG>gaA p.E221E NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 221 proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CGTTCCTCCGCTCCCGCCAGT 0.617000 5 26 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137126 126137126 + Missense_Mutation SNP G G T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr12:126137126G>T ENST00000299308.3 + 8 2047 c.2039G>T c.(2038-2040)aGg>aTg p.R680M TMEM132B_ENST00000535886.1_Missense_Mutation_p.R192M NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 680 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCAGACAAAAGGGCCATCGTC 0.607000 11 78 9.05144e-12 1.00761e-11 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13817689 13817689 + Missense_Mutation SNP G G A rs144983881 byFrequency TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr5:13817689G>A ENST00000265104.4 - 42 7060 c.6956C>T c.(6955-6957)aCg>aTg p.T2319M NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2319 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCTCCAAAGCGTAGAAAATAT 0.403000 Kartagener syndrome 15 113 0 0 1 0 0 GFOD1 54438 broad.mit.edu 37 6 13365014 13365014 + Silent SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr6:13365014G>A ENST00000379287.3 - 2 1798 c.1134C>T c.(1132-1134)agC>agT p.S378S GFOD1_ENST00000379284.1_Silent_p.S275S NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 378 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) GCATGGCCTCGCTGATCAGGT 0.612000 15 21 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58207049 58207049 + Silent SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr11:58207049G>A ENST00000302572.2 - 1 597 c.576C>T c.(574-576)atC>atT p.I192I NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) CCATCTCACTGATGTAGTTGT 0.383000 13 66 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35467643 35467643 + Missense_Mutation SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr20:35467643G>A ENST00000237536.4 - 2 1230 c.889C>T c.(889-891)Cgt>Tgt p.R297C SOGA1_ENST00000357779.3_Missense_Mutation_p.R59C|SOGA1_ENST00000279034.5_Missense_Mutation_p.R59C NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 59 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 TCCAGACCACGGATAAGCTCG 0.657000 14 130 0 0 1 0 0 CEMP1 752014 broad.mit.edu 37 16 2580950 2580950 + Missense_Mutation SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr16:2580950G>A ENST00000382350.1 - 1 470 c.125C>T c.(124-126)cCa>cTa p.P42L AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000413459.3_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.P42L|CEMP1_ENST00000565480.1_Missense_Mutation_p.P42L|AMDHD2_ENST00000302956.4_3'UTR Q6PRD7 CEMP1_HUMAN cementum protein 1 42 cytoplasm lung(1)|skin(1) 2 TGCTGGGCCTGGGAGAGGAGC 0.642000 3 42 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 7 78 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34132255 34132255 + Nonsense_Mutation SNP G G T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr21:34132255G>T ENST00000331923.4 - 6 1215 c.1026C>A c.(1024-1026)taC>taA p.Y342* PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.Y342*|PAXBP1_ENST00000472588.1_5'UTR NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 GCATTGTCTGGTAAGTGTTCT 0.388000 10 93 1.58986e-06 1.67504e-06 1 1 0 KRT14 3861 broad.mit.edu 37 17 39740038 39740038 + Missense_Mutation SNP C C G TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr17:39740038C>G ENST00000167586.6 - 4 987 c.901G>C c.(901-903)Gat>Cat p.D301H NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 301 Coil 2.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) TCCTCGGCATCCTTGCGGTTC 0.547000 40 245 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72076802 72076802 + Missense_Mutation SNP G G C TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr1:72076802G>C ENST00000357731.4 - 5 934 c.695C>G c.(694-696)tCt>tGt p.S232C NEGR1_ENST00000306821.3_Missense_Mutation_p.S104C|NEGR1_ENST00000434200.1_Missense_Mutation_p.S186C NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 232 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) CACGGTGCCAGATTTAATTTC 0.428000 30 78 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532922 113532922 + Missense_Mutation SNP G G C TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr12:113532922G>C ENST00000257600.3 + 7 1965 c.1462G>C c.(1462-1464)Gag>Cag p.E488Q DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 488 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.E488*(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 TGGGAAGATGGAGTTCCACCT 0.647000 8 82 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316882 30316882 + Missense_Mutation SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr10:30316882G>A ENST00000375377.1 - 3 2296 c.2195C>T c.(2194-2196)aCg>aTg p.T732M NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 732 p.T732M(1) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TGCTGTGTGCGTCTGAGCTTC 0.577000 7 50 0 0 1 0 0 SS18L1 26039 broad.mit.edu 37 20 60749689 60749689 + Missense_Mutation SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr20:60749689G>A ENST00000331758.3 + 10 1179 c.1153G>A c.(1153-1155)Ggc>Agc p.G385S SS18L1_ENST00000421564.1_Missense_Mutation_p.G385S|SS18L1_ENST00000370848.4_Missense_Mutation_p.G388S NM_198935.1 NP_945173.1 O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 385 Gln-rich.|Necessary for nuclear localization (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) GCGGCCCTACGGCTATGAACA 0.582000 T SSX1 synovial sarcoma 45 131 0 0 1 0 0 TJAP1 93643 broad.mit.edu 37 6 43469294 43469294 + Silent SNP C C G TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr6:43469294C>G ENST00000372444.2 + 7 592 c.159C>G c.(157-159)cgC>cgG p.R53R TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Silent_p.R53R|TJAP1_ENST00000372449.1_Silent_p.R53R|TJAP1_ENST00000372452.1_Silent_p.R53R|TJAP1_ENST00000372445.5_Silent_p.R53R|TJAP1_ENST00000436109.2_Silent_p.R53R|TJAP1_ENST00000259751.1_Silent_p.R53R NM_001146018.1 NP_001139490.1 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 53 Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AAGAGCTTCGCCGGCGCCTGG 0.632000 7 49 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139189169 139189169 + Silent SNP C C T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr5:139189169C>T ENST00000274710.3 + 2 349 c.144C>T c.(142-144)caC>caT p.H48H NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 48 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCAGGGCACGAGCGAAGGG 0.652000 5 46 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68692363 68692363 + Missense_Mutation SNP T T A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr5:68692363T>A ENST00000509734.1 + 15 2273 c.1595T>A c.(1594-1596)aTa>aAa p.I532K RAD17_ENST00000354312.3_Missense_Mutation_p.I521K|RAD17_ENST00000380774.3_Missense_Mutation_p.I532K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.I356K|RAD17_ENST00000345306.6_Missense_Mutation_p.I521K|RAD17_ENST00000358030.2_Missense_Mutation_p.I356K|RAD17_ENST00000354868.5_Missense_Mutation_p.I521K|RAD17_ENST00000361732.2_Missense_Mutation_p.I521K|RAD17_ENST00000282891.6_Missense_Mutation_p.I435K|RAD17_ENST00000305138.4_Missense_Mutation_p.I521K O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 532 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TGGTTTCTAATAAATAAAAAG 0.343000 Other conserved DNA damage response genes 5 14 0 0 1 0 0 E2F7 144455 broad.mit.edu 37 12 77421911 77421911 + Missense_Mutation SNP G G A TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr12:77421911G>A ENST00000322886.7 - 11 2127 c.1892C>T c.(1891-1893)tCa>tTa p.S631L E2F7_ENST00000416496.2_Missense_Mutation_p.S631L NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 631 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 TGTGGAATCTGAGGGTTTCTA 0.423000 10 85 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102471452 102471452 + Missense_Mutation SNP G G T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr14:102471452G>T ENST00000360184.4 + 26 5476 c.5312G>T c.(5311-5313)gGa>gTa p.G1771V NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1771 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AGCATGGGCGGAGGTGGAGAT 0.572000 15 45 1.49906e-05 1.55166e-05 1 1 0 HIST2H3D 653604 broad.mit.edu 37 1 149784864 149784864 + Missense_Mutation SNP T T C TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr1:149784864T>C ENST00000331491.1 - 1 372 c.373A>G c.(373-375)Atc>Gtc p.I125V NM_001123375.2 NP_001116847.1 Q71DI3 H32_HUMAN histone cluster 2, H3d 125 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 GCCAACTGGATGTCCTTGGGC 0.592000 8 59 0 0 1 0 0 F2RL2 2151 broad.mit.edu 37 5 75914376 75914376 + Frame_Shift_Del DEL G G - TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr5:75914376delG ENST00000296641.4 - 2 359 c.156delC c.(154-156)ccfs p.P52fs F2RL2_ENST00000504899.1_Frame_Shift_Del_p.P30fs|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 52 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) AGGCAGAAAAGGGGAACTCTT 0.438 17 141 --- --- --- --- ZNRF2P2 100271874 broad.mit.edu 37 7 29699825 29699826 + RNA DEL TT TT - rs142232912 TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr7:29699825_29699826delTT ENST00000426767.1 - 0 366 NR_024278.1 ATTATTGACCTTTTTTTTTTCA 0.252 3 6 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142480997 142480998 + RNA DEL AT AT - TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr7:142480997_142480998delAT ENST00000603901.1 + 0 200 NR_001296.3 TGCCCATGTGATATGACCACAT 0.569 6 5 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139401062 139401062 + Frame_Shift_Del DEL A A - TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr9:139401062delA ENST00000277541.6 - 24 4006 c.3931delT c.(3931-3933)gcfs p.C1311fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1311 EGF-like 34. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TTGCCTTTGCAGCCATTGATG 0.687 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 8 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 8 169 --- --- --- --- RP11-1028N23.4 0 broad.mit.edu 37 12 116030327 116030327 + RNA DEL T T - TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr12:116030327delT ENST00000551940.1 - 0 343 ctccattttcTTTTTTTTTTT 0.473 2 4 --- --- --- --- MBTPS1 8720 broad.mit.edu 37 16 84132827 84132828 + Frame_Shift_Ins INS - - T TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr16:84132827_84132828insT ENST00000343411.3 - 3 746_747 c.251_252insA c.(250-252)atgfs p.M84fs NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 84 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TAATTCTCCAATTGTCTACTTC 0.381 14 196 --- --- --- --- SIGLEC15 284266 broad.mit.edu 37 18 43417720 43417720 + Frame_Shift_Del DEL A A - TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chr18:43417720delA ENST00000389474.3 + 3 572 c.355delA c.(355-357)acfs p.N119fs SIGLEC15_ENST00000546268.1_5'UTR|SIGLEC15_ENST00000602118.2_Intron NM_213602.2 NP_998767.1 Q6ZMC9 SIG15_HUMAN sialic acid binding Ig-like lectin 15 119 Ig-like V-type. integral to membrane endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 GCTGCTGGGCAACCCGCGCCG 0.741 2 4 --- --- --- --- HUWE1 10075 broad.mit.edu 37 X 53655770 53655771 + Frame_Shift_Del DEL AC AC - TCGA-CV-A465-01A-11D-A25Y-08 TCGA-CV-A465-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ea64051-624a-41ef-9390-3defc46b3c21 93b1e300-e643-4a9d-9b48-92e3dd3eb0ce g.chrX:53655770_53655771delAC ENST00000342160.3 - 13 1503_1504 c.1046_1047delGT c.(1045-1047)tfs p.C349fs HUWE1_ENST00000262854.6_Frame_Shift_Del_p.C349fs|HUWE1_ENST00000218328.8_Frame_Shift_Del_p.C349fs Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 349 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CAGTTCCAGTACAGTCAATAAT 0.391 7 41 --- --- --- ---