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 TFAP2E 339488 broad.mit.edu 37 1 36055549 36055549 + Silent SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:36055549G>A ENST00000373235.3 + 5 1012 c.804G>A c.(802-804)ggG>ggA p.G268G NM_178548.3 NP_848643.2 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 268 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1) 2 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CCAAAAATGGGGGCCGGTGTT 0.547 7 51 --- --- --- --- FAM102B 284611 broad.mit.edu 37 1 109170825 109170825 + Missense_Mutation SNP T T G TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:109170825T>G ENST00000370035.3 + 7 933 c.593T>G c.(592-594)cTt>cGt p.L198R FAM102B_ENST00000405454.1_Missense_Mutation_p.L198R NM_001010883.2 NP_001010883.2 Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B 198 autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) CCAGACGAACTTGGTGCCTGT 0.378 30 41 --- --- --- --- IER5 51278 broad.mit.edu 37 1 181058365 181058365 + Missense_Mutation SNP C C G TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr1:181058365C>G ENST00000367577.4 + 1 728 c.327C>G c.(325-327)gaC>gaG p.D109E NM_016545.4 NP_057629.2 Q5VY09 IER5_HUMAN immediate early response 5 109 lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 4 CCGTCTCAGACGCGCCGCGGG 0.761 4 13 --- --- --- --- CNPPD1 27013 broad.mit.edu 37 2 220038176 220038176 + Nonsense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr2:220038176G>A ENST00000409789.1 - 8 1013 c.586C>T c.(586-588)Cag>Tag p.Q196* CNPPD1_ENST00000360507.5_Nonsense_Mutation_p.Q196* Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 196 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 CACCGTCCCTGCTGCTCAGCC 0.627 14 29 --- --- --- --- TRIM35 23087 broad.mit.edu 37 8 27151801 27151801 + Silent SNP C C A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr8:27151801C>A ENST00000305364.4 - 3 641 c.558G>T c.(556-558)cgG>cgT p.R186R TRIM35_ENST00000521253.1_Silent_p.R154R NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 186 apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) CCTGCCGGATCCGGCCTTCCA 0.562 3 19 --- --- --- --- OR13C3 138803 broad.mit.edu 37 9 107298274 107298274 + Missense_Mutation SNP T T A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr9:107298274T>A ENST00000374781.2 - 1 863 c.821A>T c.(820-822)cAc>cTc p.H274L NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 CACAGTCAGGTGAGCTGAGCA 0.423 54 108 --- --- --- --- SLC39A12 221074 broad.mit.edu 37 10 18250534 18250534 + Missense_Mutation SNP C C A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr10:18250534C>A ENST00000377369.2 + 3 559 c.286C>A c.(286-288)Cta>Ata p.L96I SLC39A12_ENST00000377374.4_Missense_Mutation_p.L96I|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L96I NM_001145195.1|NM_001282733.1|NM_001282734.1 NP_001138667.1|NP_001269662.1|NP_001269663.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 96 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TGCACTATTACTAATAGCTGG 0.373 36 61 --- --- --- --- RET 5979 broad.mit.edu 37 10 43622119 43622119 + Missense_Mutation SNP G G T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr10:43622119G>T ENST00000355710.3 + 19 3368 c.3136G>T c.(3136-3138)Gcc>Tcc p.A1046S RET_ENST00000340058.5_Missense_Mutation_p.A1046S NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 1046 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CTGTAATAATGCCCCCCTCCC 0.527 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 36 55 --- --- --- --- SLC22A10 387775 broad.mit.edu 37 11 63065162 63065162 + Missense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr11:63065162G>A ENST00000544661.1 + 5 756 c.328G>A c.(328-330)Gcg>Acg p.A110T SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Missense_Mutation_p.A55T|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A265T Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 265 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCACGTGGTGGCGTCTGTACC 0.453 40 75 --- --- --- --- GUCY2C 2984 broad.mit.edu 37 12 14798210 14798210 + Missense_Mutation SNP A A C TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr12:14798210A>C ENST00000261170.3 - 16 1886 c.1750T>G c.(1750-1752)Ttc>Gtc p.F584V NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 584 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CAATCCATGAATGTGCCATCA 0.333 34 78 --- --- --- --- C12orf71 728858 broad.mit.edu 37 12 27234319 27234319 + Missense_Mutation SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr12:27234319C>T ENST00000429849.2 - 2 628 c.598G>A c.(598-600)Gac>Aac p.D200N NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 200 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 GAAGGAGTGTCATCCTTCTCT 0.562 11 74 --- --- --- --- ANKRD52 283373 broad.mit.edu 37 12 56638934 56638934 + Silent SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr12:56638934C>T ENST00000267116.7 - 22 2566 c.2445G>A c.(2443-2445)ccG>ccA p.P815P NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 815 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GGTACGAAAACGGGCTGTGTT 0.522 6 141 --- --- --- --- CS 1431 broad.mit.edu 37 12 56667436 56667436 + Missense_Mutation SNP A A C TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr12:56667436A>C ENST00000548567.1 - 11 1437 c.967T>G c.(967-969)Tta>Gta p.L323V CS_ENST00000351328.3_Missense_Mutation_p.L389V|CS_ENST00000542324.2_Missense_Mutation_p.L376V O75390 CISY_HUMAN citrate synthase 389 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 17 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) CCCTGCTCTAAGAGGACATTG 0.488 4 66 --- --- --- --- DYNC1H1 1778 broad.mit.edu 37 14 102442099 102442099 + Missense_Mutation SNP A A G TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr14:102442099A>G ENST00000360184.4 + 2 471 c.307A>G c.(307-309)Atc>Gtc p.I103V NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 103 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 TTCCTATAACATCAACATAGA 0.279 28 45 --- --- --- --- TPSG1 25823 broad.mit.edu 37 16 1271955 1271955 + Missense_Mutation SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr16:1271955G>A ENST00000234798.4 - 6 803 c.799C>T c.(799-801)Cgc>Tgc p.R267C NM_012467.3 NP_036599 Q9NRR2 TRYG1_HUMAN tryptase gamma 1 267 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity liver(1)|lung(2)|skin(1) 4 Hepatocellular(780;0.00369) GTGATGTGGCGGCGGATCCAG 0.662 11 16 --- --- --- --- ACSM2B 348158 broad.mit.edu 37 16 20563466 20563466 + Splice_Site SNP C C T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr16:20563466C>T ENST00000329697.6 - 6 1062 c.894G>A c.(892-894)aaG>aaA p.K298K ACSM2B_ENST00000567001.1_Splice_Site_p.K298K|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Splice_Site_p.K298K|ACSM2B_ENST00000565322.1_Splice_Site_p.K219K NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 298 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCTCTCTTACCTTTAGAATAA 0.393 16 151 --- --- --- --- COG1 9382 broad.mit.edu 37 17 71193480 71193480 + Silent SNP G G T TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr17:71193480G>T ENST00000299886.4 + 4 938 c.858G>T c.(856-858)ctG>ctT p.L286L NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 286 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) ATCCAGCCCTGCCATGTGGCT 0.512 24 105 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657357 25657357 + Silent SNP G G A TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr20:25657357G>A ENST00000376436.1 - 4 1106 c.567C>T c.(565-567)ttC>ttT p.F189F RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F157F|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F189F zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCTTCCGGCTGAAGTCTTGCC 0.433 5 219 --- --- --- --- HTR2C 3358 broad.mit.edu 37 X 113965814 113965814 + Silent SNP A A C TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chrX:113965814A>C ENST00000276198.1 + 4 875 c.147A>C c.(145-147)ccA>ccC p.P49P HTR2C_ENST00000371950.3_Silent_p.P49P|HTR2C_ENST00000371951.1_Silent_p.P49P NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 49 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TCAAATTCCCAGACGGGGTAC 0.433 8 73 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97788717 97788720 + Frame_Shift_Del DEL GTGT GTGT - TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr7:97788717_97788720delGTGT ENST00000297293.5 + 6 930_933 c.637_640delGTGT c.(637-642)gtgtttfs p.VF213fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 213 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CTACCTCCTGGTGTTTGAGTTCTG 0.412 31 121 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579315 7579316 + Frame_Shift_Ins INS - - C TCGA-KK-A7B4-01A-11D-A32B-08 TCGA-KK-A7B4-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48f40308-4306-49e9-95a2-2f3d5430bb1c def273a4-201d-40ba-81ca-df45a7320547 g.chr17:7579315_7579316insC ENST00000420246.2 - 4 503_504 c.371_372insG c.(370-372)tgcfs p.C124fs TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 124 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (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.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(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) AACTGACCGTGCAAGTCACAGA 0.545 111 """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) 25 29 --- --- --- ---