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 DPH5 51611 broad.mit.edu 37 1 101458271 101458271 + Missense_Mutation SNP G G A rs116634893 by1000genomes TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr1:101458271G>A ENST00000370109.3 - 7 668 c.556C>T c.(556-558)Cgg>Tgg p.R186W DPH5_ENST00000427040.2_Intron|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.R186W|DPH5_ENST00000342173.7_Missense_Mutation_p.R186W NM_001077394.1|NM_001077395.1|NM_015958.2 NP_001070862.1|NP_001070863.1|NP_057042.2 Q9H2P9 DPH5_HUMAN diphthamide biosynthesis 5 186 peptidyl-diphthamide biosynthetic process from peptidyl-histidine diphthine synthase activity endometrium(2)|large_intestine(1)|lung(4) 7 all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198) CTCATATACCGTGGAGGTTCA 0.418000 23 48 0 0 1 0 0 RBL2 5934 broad.mit.edu 37 16 53504686 53504686 + Missense_Mutation SNP G G A TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr16:53504686G>A ENST00000262133.6 + 17 2692 c.2555G>A c.(2554-2556)cGg>cAg p.R852Q RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 852 Domain B.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.R852L(1) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GTCCGCCTTCGGGATCTCTGT 0.383000 28 119 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117704543 117704543 + Missense_Mutation SNP G G T TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr6:117704543G>T ENST00000368508.3 - 16 2631 c.2433C>A c.(2431-2433)agC>agA p.S811R GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S806R NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 811 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTAGTCTGGTGCTTTCCACTG 0.418000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 4 135 0.00024832 0.00024832 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 130 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178416956 178416956 + Missense_Mutation SNP G G A TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr2:178416956G>A ENST00000408939.2 - 1 786 c.536C>T c.(535-537)gCc>gTc p.A179V NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 179 Missing (in Ref. 1; BAB70953). cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) CTGCAGGGCGGCAAAAAACTT 0.542000 6 147 0 0 1 0 0 INTU 27152 broad.mit.edu 37 4 128629783 128629783 + Missense_Mutation SNP G G A TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr4:128629783G>A ENST00000335251.5 + 13 2432 c.2329G>A c.(2329-2331)Gac>Aac p.D777N NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 777 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 CTTGAAAAAGGACCTTCCAGA 0.303000 12 24 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21177847 21177847 + Missense_Mutation SNP G G A TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr1:21177847G>A ENST00000602326.1 - 26 4109 c.3526C>T c.(3526-3528)Cgg>Tgg p.R1176W EIF4G3_ENST00000374935.3_Missense_Mutation_p.R890W|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1176W|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1170W|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1170W|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R660W|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R774W NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1170 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) ATCTCTCTCCGCTGCTCTTCT 0.522000 4 116 0 0 1 0 0 PDE6G 5148 broad.mit.edu 37 17 79620303 79620303 + Silent SNP C C G TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr17:79620303C>G ENST00000573076.1 - 2 658 c.183G>C c.(181-183)cgG>cgC p.R61R PDE6G_ENST00000571224.1_Silent_p.R11R|PDE6G_ENST00000571004.1_Silent_p.R11R|PDE6G_ENST00000331056.5_Silent_p.R11R|PDE6G_ENST00000574777.1_Intron P18545 CNRG_HUMAN phosphodiesterase 6G, cGMP-specific, rod, gamma 11 platelet activation|visual perception cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity lung(2)|urinary_tract(1) 3 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TGGTGGCTGACCGGAACTCAG 0.637000 30 66 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29099814 29099814 + Missense_Mutation SNP T T G TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr18:29099814T>G ENST00000261590.8 + 3 339 c.130T>G c.(130-132)Tta>Gta p.L44V DSG2_ENST00000585206.1_Missense_Mutation_p.L44V NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 44 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) ACATCCTCATTTAGTGCGGCA 0.423000 17 40 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486633 125486633 + Missense_Mutation SNP A A G TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr9:125486633A>G ENST00000259466.1 + 1 365 c.365A>G c.(364-366)gAc>gGc p.D122G NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 ATGGCCATCGACCGGCTGGTG 0.498000 57 95 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20721141 20721141 + Missense_Mutation SNP G G A rs147800155 by1000genomes TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr7:20721141G>A ENST00000404938.2 + 15 2373 c.1721G>A c.(1720-1722)cGg>cAg p.R574Q ABCB5_ENST00000258738.6_Missense_Mutation_p.R129Q NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 129 ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AGCAAAGGTCGGACTACAATC 0.413000 19 45 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215848559 215848559 + Missense_Mutation SNP G G T TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr1:215848559G>T ENST00000366943.2 - 63 13080 c.12694C>A c.(12694-12696)Cca>Aca p.P4232T USH2A_ENST00000307340.3_Missense_Mutation_p.P4232T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4232 Fibronectin type-III 27. P -> R (in USH2A). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGCGTCCATGGTTGCAAACCT 0.423000 HNSCC(13;0.011) 16 100 4.7546e-09 4.89445e-09 1 1 0 SP2 6668 broad.mit.edu 37 17 45994066 45994066 + Missense_Mutation SNP T T C TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr17:45994066T>C ENST00000376741.4 + 3 766 c.629T>C c.(628-630)gTg>gCg p.V210A AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 210 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 GGCGGCAATGTGACGCTCACT 0.627000 25 39 0 0 1 0 0 TMEM234 56063 broad.mit.edu 37 1 32682594 32682594 + Missense_Mutation SNP C C T TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr1:32682594C>T ENST00000545122.1 - 5 508 c.460G>A c.(460-462)Ggc>Agc p.G154S TMEM234_ENST00000485689.1_Intron|TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000309777.6_Intron|TMEM234_ENST00000344461.3_Intron Q8WY98 TM234_HUMAN transmembrane protein 234 40 integral to membrane kidney(2)|lung(3) 5 TCAGCCATGCCAGTAGGAGCT 0.552000 10 16 0 0 1 0 0 PRSS3 5646 broad.mit.edu 37 9 33797829 33797829 + Missense_Mutation SNP G G A rs138654302 TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr9:33797829G>A ENST00000361005.5 + 3 374 c.374G>A c.(373-375)cGc>cAc p.R125H RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.R82H|PRSS3_ENST00000379405.3_Missense_Mutation_p.R68H|PRSS3_ENST00000429677.3_Missense_Mutation_p.R61H NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 125 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) CCCATCAGCCGCATCCAGGTG 0.577000 4 85 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 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 24 61 0 0 1 0 0 TMEM171 134285 broad.mit.edu 37 5 72419433 72419433 + Missense_Mutation SNP G G A rs151305324 TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr5:72419433G>A ENST00000454765.2 + 2 706 c.233G>A c.(232-234)cGc>cAc p.R78H TMEM171_ENST00000287773.5_Missense_Mutation_p.R78H Q8WVE6 TM171_HUMAN transmembrane protein 171 78 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) ATCCTGGCCCGCTCCCGGGCG 0.647000 18 29 0 0 1 0 0 ELOVL2 54898 broad.mit.edu 37 6 11005622 11005622 + Missense_Mutation SNP C C T rs146714276 by1000genomes TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr6:11005622C>T ENST00000354666.3 - 3 321 c.238G>A c.(238-240)Gcg>Acg p.A80T NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 80 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) AGCATGTACGCGGAGAGAAGT 0.438000 17 48 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71659525 71659525 + Missense_Mutation SNP G G A TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr4:71659525G>A ENST00000381006.3 + 13 1940 c.1361G>A c.(1360-1362)cGc>cAc p.R454H RUFY3_ENST00000502653.1_Missense_Mutation_p.R401H NM_001037442.2 NP_001032519.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 291 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) GAGCGAAGCCGCCAATCTGCT 0.507000 24 18 0 0 1 0 0 MYLK4 340156 broad.mit.edu 37 6 2679602 2679602 + Missense_Mutation SNP G G C TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr6:2679602G>C ENST00000274643.7 - 9 1141 c.799C>G c.(799-801)Cca>Gca p.P267A MYLK4_ENST00000268446.5_Missense_Mutation_p.P267A NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 267 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) AGAAATTCTGGGGTTCCAAAG 0.448000 15 194 0 0 1 0 0 CXCR6 10663 broad.mit.edu 37 3 45988956 45988956 + Missense_Mutation SNP T T C TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr3:45988956T>C ENST00000458629.1 + 1 2446 c.983T>C c.(982-984)tTt>tCt p.F328S CXCR6_ENST00000438735.1_Missense_Mutation_p.F328S|CXCR6_ENST00000457814.1_Missense_Mutation_p.F328S|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.F328S|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000438446.1_Intron O00574 CXCR6_HUMAN chemokine (C-X-C motif) receptor 6 328 viral genome replication integral to plasma membrane coreceptor activity central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TCCAAGACTTTTTCTGCCTCC 0.483000 23 69 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578208 7578208 + Missense_Mutation SNP T T C TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr17:7578208T>C ENST00000420246.2 - 6 773 c.641A>G c.(640-642)cAt>cGt p.H214R TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 214 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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) CACCACACTATGTCGAAAAGT 0.542000 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) 11 18 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26629321 26629321 + Silent SNP C C T TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr1:26629321C>T ENST00000314675.7 - 2 133 c.54G>A c.(52-54)tcG>tcA p.S18S UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374221.3_Silent_p.S18S|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000374217.2_Silent_p.S18S|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374222.1_Silent_p.S18S|UBXN11_ENST00000357089.4_Silent_p.S18S NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 18 cytoplasm|cytoskeleton p.S18S(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 TCATAGGCTCCGAGGGCAGGG 0.547000 16 19 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42210985 42210985 + Splice_Site SNP C C T TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr6:42210985C>T ENST00000541110.1 - 15 3488 c.e15+1 TRERF1_ENST00000372922.4_Splice_Site|TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCTTCACTCACCACACAATCG 0.542000 25 61 0 0 1 0 0 FAM208A 23272 broad.mit.edu 37 3 56675529 56675529 + Missense_Mutation SNP T T C TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr3:56675529T>C ENST00000431842.2 - 8 2203 c.1279A>G c.(1279-1281)Aaa>Gaa p.K427E FAM208A_ENST00000493960.2_Missense_Mutation_p.K823E|FAM208A_ENST00000355628.5_Missense_Mutation_p.K823E NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 823 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 TCATAGTCTTTCTTATCTGGG 0.403000 41 75 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17697556 17697556 + Silent SNP C C T TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr2:17697556C>T ENST00000399080.2 - 1 2150 c.2127G>A c.(2125-2127)caG>caA p.Q709Q NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 709 p.Q709H(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACTCATATTCTGACAAGTAA 0.313000 4 84 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39448228 39448228 + Silent SNP G G A TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr22:39448228G>A ENST00000308521.5 + 6 1230 c.873G>A c.(871-873)ctG>ctA p.L291L APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 299 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) CCGAGTTCCTGGCCAGGCACA 0.567000 30 67 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938326 76938326 + Nonsense_Mutation SNP G G A TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chrX:76938326G>A ENST00000373344.5 - 9 2636 c.2422C>T c.(2422-2424)Cga>Tga p.R808* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R770* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 808 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) tGGGTTTGTCGTTTCTTTTTA 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 86 44 0 0 1 0 0 PTPN12 0 broad.mit.edu 37 7 77256458 77256458 + Missense_Mutation SNP G G A TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr7:77256458G>A ENST00000248594.6 + 13 1734 c.1462G>A c.(1462-1464)Ggt>Agt p.G488S PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 488 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 TCTAAATGTCGGTGATACTTC 0.383000 21 45 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 8 48 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 2 4 --- --- --- --- RP11-65M17.3 0 broad.mit.edu 37 11 112332120 112332121 + RNA INS - - T rs111710457 TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr11:112332120_112332121insT ENST00000528496.1 + 0 231 CTGATTTTATGTTTTTTTTTTT 0.376 2 4 --- --- --- --- SLCO1B1 10599 broad.mit.edu 37 12 21392085 21392086 + Frame_Shift_Ins INS - - T TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr12:21392085_21392086insT ENST00000256958.2 + 15 2134_2135 c.2038_2039insT c.(2038-2040)cccfs p.P680fs NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 680 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TAAACATTTTGTCCCTTCTGCT 0.351 29 73 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49442512 49442514 + In_Frame_Del DEL TCC TCC - TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr12:49442512_49442514delTCC ENST00000301067.7 - 13 4058_4060 c.4059_4061delGGA c.(4057-4062)gaa>ga p.EE1353del NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATCATCTTCTTCCTCCTCCTCCT 0.478 7 307 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578250 7578250 + Frame_Shift_Del DEL T T - TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr17:7578250delT ENST00000420246.2 - 6 731 c.599delA c.(598-600)atfs p.N200fs TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 200 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (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.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(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) CACACGCAAATTTCCTTCCAC 0.547 111 """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) 11 30 --- --- --- --- LRP3 4037 broad.mit.edu 37 19 33698349 33698349 + Frame_Shift_Del DEL C C - TCGA-TM-A84L-01A-11D-A36O-08 TCGA-TM-A84L-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 24a012b9-073b-4885-ad00-da8d4ea47ab9 29f12a90-ffa1-4e84-b0a5-e4f88ca43a02 g.chr19:33698349delC ENST00000253193.7 + 7 2383 c.2181delC c.(2179-2181)cafs p.H727fs NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 727 receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) AGGACCCGCACCCCCAGGTCT 0.701 2 4 --- --- --- ---