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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 55 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65376868 65376868 + Missense_Mutation SNP G G T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr3:65376868G>T ENST00000330909.8 - 14 2364 c.2365C>A c.(2365-2367)Cca>Aca p.P789T MAGI1_ENST00000497477.2_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T|MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 789 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding p.P789T(2) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) AAAGGATCTGGTTTTTTCTGG 0.567000 9 79 0.000274275 0.000274275 1 1 0 DENND2C 163259 broad.mit.edu 37 1 115130509 115130509 + Silent SNP A A G TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:115130509A>G ENST00000393274.1 - 19 3121 c.2496T>C c.(2494-2496)caT>caC p.H832H DENND2C_ENST00000393277.1_Silent_p.H720H|DENND2C_ENST00000393276.3_Silent_p.H775H|DENND2C_ENST00000481894.1_5'UTR NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 832 dDENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TCAAAGAATAATGTCCTACCA 0.453000 9 42 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55357560 55357560 + Silent SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr12:55357560C>T ENST00000524622.1 - 6 868 c.207G>A c.(205-207)agG>agA p.R69R TESPA1_ENST00000531122.1_Silent_p.R69R|TESPA1_ENST00000532804.1_Silent_p.R69R|TESPA1_ENST00000449076.1_Silent_p.R207R|TESPA1_ENST00000316577.8_Silent_p.R207R|TESPA1_ENST00000524959.1_5'UTR NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 207 CCATTTCAATCCTCCGCACCT 0.542000 14 18 0 0 1 0 0 AMZ1 155185 broad.mit.edu 37 7 2752024 2752024 + Missense_Mutation SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr7:2752024C>T ENST00000312371.4 + 7 1377 c.1009C>T c.(1009-1011)Ccg>Tcg p.P337S AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.A280V NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 337 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) GGCGGGGGAGCCGTCAGTGTG 0.672000 7 17 0 0 1 0 0 CEP68 23177 broad.mit.edu 37 2 65299194 65299194 + Missense_Mutation SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr2:65299194C>T ENST00000377990.2 + 3 1167 c.964C>T c.(964-966)Cgt>Tgt p.R322C CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Missense_Mutation_p.R322C|CEP68_ENST00000260569.4_Missense_Mutation_p.R322C|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 322 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 CCTTGATAGCCGTGTGCCAGC 0.547000 20 74 0 0 1 0 0 GLB1L 79411 broad.mit.edu 37 2 220108252 220108252 + Missense_Mutation SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr2:220108252G>A ENST00000295759.7 - 2 357 c.44C>T c.(43-45)cCg>cTg p.P15L GLB1L_ENST00000356283.3_Missense_Mutation_p.P15L|GLB1L_ENST00000409640.1_Missense_Mutation_p.P15L|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15L Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 15 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGGCTGAGCGGCAGCAGCAG 0.612000 12 36 0 0 1 0 0 FBXO47 494188 broad.mit.edu 37 17 37118156 37118156 + Missense_Mutation SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr17:37118156G>A ENST00000378079.2 - 3 525 c.326C>T c.(325-327)gCt>gTt p.A109V NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 109 p.A109V(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 CTCCAGTATAGCAGAGTCTTG 0.358000 40 41 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2338249 2338249 + Missense_Mutation SNP C C A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr16:2338249C>A ENST00000301732.5 - 21 3482 c.2782G>T c.(2782-2784)Gca>Tca p.A928S ABCA3_ENST00000382381.3_Missense_Mutation_p.A870S NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 928 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AGGACCTGTGCCGCCACCATT 0.637000 5 14 2.0095e-06 2.06308e-06 1 1 0 CACNA1I 8911 broad.mit.edu 37 22 40037050 40037050 + Missense_Mutation SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr22:40037050C>T ENST00000336649.4 + 8 919 c.919C>T c.(919-921)Cgc>Tgc p.R307C CACNA1I_ENST00000400164.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R307C Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 307 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TGGGGCGGGGCGCCAGGACCT 0.617000 4 101 0 0 1 0 0 MIR519B 0 broad.mit.edu 37 19 54198493 54198493 + RNA SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr19:54198493G>A ENST00000385090.1 + 0 27 NR_030191.1 AGAGGGAAGCGCTTTCTGTTG 0.403000 94 76 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167675300 167675300 + Silent SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr5:167675300G>A ENST00000519204.1 + 26 7111 c.6993G>A c.(6991-6993)ccG>ccA p.P2331P TENM2_ENST00000403607.2_Silent_p.P2276P|TENM2_ENST00000518659.1_Silent_p.P2452P|TENM2_ENST00000520394.1_Silent_p.P2213P|TENM2_ENST00000545108.1_Silent_p.P2451P teneurin transmembrane protein 2 GCAAGGAGCCGGCCCCCTTTA 0.507000 8 35 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099877 50099877 + Missense_Mutation SNP A A G TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr19:50099877A>G ENST00000418929.2 + 4 2297 c.2285A>G c.(2284-2286)aAg>aGg p.K762R NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 470 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TTCTTGCAAAAGAGCCCTCCG 0.697000 9 13 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85780433 85780433 + Silent SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr2:85780433G>A ENST00000233838.3 - 8 1157 c.1077C>T c.(1075-1077)cgC>cgT p.R359R GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Silent_p.R302R NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 359 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) CCAGCTGATGGCGCAGCCCTG 0.577000 17 105 0 0 1 0 0 PCDHAC1 0 broad.mit.edu 37 5 140307730 140307730 + Missense_Mutation SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr5:140307730C>T ENST00000253807.2 + 1 1253 c.1253C>T c.(1252-1254)tCa>tTa p.S418L PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S418L|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCACGGCCTCAGATAGTGGC 0.517000 19 46 0 0 1 0 0 IGHV1-18 0 broad.mit.edu 37 14 106641975 106641975 + RNA SNP A A G TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr14:106641975A>G ENST00000390605.2 - 0 81 CACCAAGAAAAGGATGCTCCA 0.557000 5 50 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11835397 11835397 + Missense_Mutation SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr17:11835397C>T ENST00000262442.3 + 64 12240 c.12172C>T c.(12172-12174)Cat>Tat p.H4058Y DNAH9_ENST00000454412.2_Missense_Mutation_p.H3982Y|DNAH9_ENST00000396001.2_Missense_Mutation_p.H370Y NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4058 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGTTACTTCCATGCGGTGGT 0.483000 54 192 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 5 28 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147091685 147091685 + Missense_Mutation SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:147091685G>A ENST00000234739.3 + 8 2464 c.1724G>A c.(1723-1725)gGg>gAg p.G575E NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 575 Pro-rich. Wnt receptor signaling pathway nucleus protein binding p.G575V(1) breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GAAATGGAAGGGCCGAATGTC 0.557000 T """IGH@, IGL@""" B-ALL 4 108 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 5 121 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578458 7578458 + Missense_Mutation SNP G G T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr17:7578458G>T ENST00000420246.2 - 5 604 c.472C>A c.(472-474)Cgc>Agc p.R158S TP53_ENST00000413465.2_Missense_Mutation_p.R158S|TP53_ENST00000445888.2_Missense_Mutation_p.R158S|TP53_ENST00000455263.2_Missense_Mutation_p.R158S|TP53_ENST00000359597.4_Missense_Mutation_p.R158S|TP53_ENST00000269305.4_Missense_Mutation_p.R158S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 158 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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) GCCATGGCGCGGACGCGGGTG 0.622000 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) 29 3 3.90053e-15 4.11425e-15 1 1 0 ZNF671 79891 broad.mit.edu 37 19 58232671 58232671 + Silent SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr19:58232671G>A ENST00000317398.6 - 4 878 c.783C>T c.(781-783)gcC>gcT p.A261A AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.A163A NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGCTGAGAGAGGCCTGATGCT 0.517000 12 52 0 0 1 0 0 XXbac-BPG308J9.3 0 broad.mit.edu 37 6 29231546 29231546 + RNA SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr6:29231546G>A ENST00000441381.1 + 0 79 CGTGCATAGCGTCACATTAGT 0.433000 49 182 0 0 1 0 0 FAM213B 127281 broad.mit.edu 37 1 2519968 2519968 + Splice_Site SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:2519968G>A ENST00000484099.1 + 4 334 c.e4-1 FAM213B_ENST00000378424.4_Intron|FAM213B_ENST00000419916.2_Intron|FAM213B_ENST00000378425.5_Intron|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000444521.2_Intron NR_036638.1 Q8TBF2 PGFS_HUMAN family with sequence similarity 213, member B prostaglandin biosynthetic process cytosol oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GATTGACTCAGGCTGTACCCA 0.632000 66 90 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 5 33 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28846701 28846701 + Missense_Mutation SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr16:28846701C>T ENST00000336783.4 + 20 2833 c.2666C>T c.(2665-2667)gCg>gTg p.A889V ATXN2L_ENST00000395547.2_Missense_Mutation_p.A889V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A889V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A889V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A889V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A889V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A895V NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 889 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TCCCAGCATGCGGCCCCCAGT 0.632000 3 34 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82421687 82421687 + Missense_Mutation SNP G G T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:82421687G>T ENST00000370728.1 + 13 2593 c.1948G>T c.(1948-1950)Gtc>Ttc p.V650F LPHN2_ENST00000271029.4_Missense_Mutation_p.V650F|LPHN2_ENST00000370730.1_Missense_Mutation_p.V650F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.V637F|LPHN2_ENST00000370721.1_Missense_Mutation_p.V575F|LPHN2_ENST00000394879.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370725.1_Missense_Mutation_p.V650F|LPHN2_ENST00000370715.1_Missense_Mutation_p.V637F|LPHN2_ENST00000359929.3_Missense_Mutation_p.V637F|LPHN2_ENST00000370717.2_Missense_Mutation_p.V650F|LPHN2_ENST00000370713.1_Missense_Mutation_p.V637F|LPHN2_ENST00000335786.5_Missense_Mutation_p.V650F|LPHN2_ENST00000370723.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370727.1_Missense_Mutation_p.V650F O95490 LPHN2_HUMAN latrophilin 2 650 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGGAGCTTTTGTCCTAGCTGA 0.368000 27 34 1.16021e-09 1.20724e-09 1 1 0 TRPV1 7442 broad.mit.edu 37 17 3491593 3491593 + Silent SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr17:3491593G>A ENST00000174621.6 - 6 1396 c.1107C>T c.(1105-1107)acC>acT p.T369T TRPV1_ENST00000399756.4_Silent_p.T371T|TRPV1_ENST00000425167.2_Silent_p.T382T|TRPV1_ENST00000571088.1_Silent_p.T371T|TRPV1_ENST00000399759.3_Silent_p.T371T|SHPK_ENST00000572705.1_Silent_p.T371T|TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000576351.1_Silent_p.T371T Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 371 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) AGGCCCACTCGGTGAACTTCC 0.637000 5 3 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149915331 149915331 + Missense_Mutation SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr5:149915331G>A ENST00000261797.6 + 6 1823 c.1321G>A c.(1321-1323)Gtg>Atg p.V441M NDST1_ENST00000523767.1_Missense_Mutation_p.V441M NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 441 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCGTGCACGTGCAGCTGTA 0.647000 12 22 0 0 1 0 0 C12orf42 374470 broad.mit.edu 37 12 103700000 103700000 + Missense_Mutation SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr12:103700000C>T ENST00000548048.1 - 8 678 c.182G>A c.(181-183)cGt>cAt p.R61H C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Missense_Mutation_p.R128H|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.R128H Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 128 p.R128H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 TGGAGAGGAACGGAATTCTTC 0.468000 11 24 0 0 1 0 0 MRPL27 51264 broad.mit.edu 37 17 48447454 48447454 + Missense_Mutation SNP T T C rs148980265 TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr17:48447454T>C ENST00000442592.3 - 3 215 c.179A>G c.(178-180)tAt>tGt p.Y60C MRPL27_ENST00000503633.1_Missense_Mutation_p.Y60C|MRPL27_ENST00000507088.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000511860.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000225969.4_Missense_Mutation_p.Y60C Q9P0M9 RM27_HUMAN mitochondrial ribosomal protein L27 60 translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(1)|large_intestine(2)|urinary_tract(1) 4 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;1.73e-07) AGCATGAACATAGTGACCTAG 0.527000 24 25 0 0 1 0 0 UBE2F 140739 broad.mit.edu 37 2 238925257 238925257 + Silent SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr2:238925257C>T ENST00000272930.4 + 5 458 c.264C>T c.(262-264)ccC>ccT p.P88P UBE2F_ENST00000409332.1_Silent_p.P66P|UBE2F-SCLY_ENST00000449191.1_Silent_p.P88P|UBE2F_ENST00000409633.1_Silent_p.P88P|UBE2F_ENST00000414443.1_Silent_p.P56P|UBE2F_ENST00000409953.1_Silent_p.P64P NM_001278305.1|NM_080678.2 NP_001265234.1|NP_542409.1 Q969M7 UBE2F_HUMAN ubiquitin-conjugating enzyme E2F (putative) 88 protein neddylation ATP binding|NEDD8 ligase activity|protein binding endometrium(1)|large_intestine(1) 2 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301) CTGAAGTTCCCGATGCGTACA 0.458000 16 116 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170031819 170031819 + Missense_Mutation SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr2:170031819C>T ENST00000263816.3 - 55 10937 c.10652G>A c.(10651-10653)cGc>cAc p.R3551H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3551 LDL-receptor class A 27. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.R3551H(2) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCGGCAGAAGCGCTGCGGGCA 0.532000 28 25 0 0 1 0 0 TRBV5-7 0 broad.mit.edu 37 7 142111483 142111483 + RNA SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr7:142111483C>T ENST00000390378.1 - 0 252 AACTGGTGACCTGAGAATTGA 0.522000 57 61 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683876 100683876 + Missense_Mutation SNP T T G rs145514577 byFrequency TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr7:100683876T>G ENST00000306151.4 + 3 9243 c.9179T>G c.(9178-9180)aTt>aGt p.I3060S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3060 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCAGTGGCCATTCCTGAGGCT 0.493000 4 242 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 65960387 65960387 + Missense_Mutation SNP G G C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr15:65960387G>C ENST00000443035.3 - 28 5074 c.4859C>G c.(4858-4860)tCt>tGt p.S1620C DENND4A_ENST00000431932.2_Missense_Mutation_p.S1577C NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1577 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TGGACATTTAGACATAGCTGT 0.398000 30 22 0 0 1 0 0 ASNS 440 broad.mit.edu 37 7 97482450 97482450 + Silent SNP T T C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr7:97482450T>C ENST00000175506.4 - 13 1926 c.1398A>G c.(1396-1398)ccA>ccG p.P466P ASNS_ENST00000422745.1_Silent_p.P445P|ASNS_ENST00000394308.3_Silent_p.P466P|ASNS_ENST00000437628.1_Silent_p.P383P|ASNS_ENST00000444334.1_Silent_p.P445P|ASNS_ENST00000394309.3_Silent_p.P466P|ASNS_ENST00000455086.1_Silent_p.P383P NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 466 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGGCTTCTTTTGGTCGCCAGA 0.373000 13 58 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 27 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 5 173 0 0 1 0 0 AP3D1 8943 broad.mit.edu 37 19 2129435 2129435 + Missense_Mutation SNP T T C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr19:2129435T>C ENST00000355272.6 - 7 820 c.614A>G c.(613-615)aAt>aGt p.N205S AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000345016.5_Missense_Mutation_p.N205S|AP3D1_ENST00000356926.4_Intron NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 205 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGATGACATTGACGGCAGC 0.577000 11 28 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52525405 52525405 + Silent SNP G G T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr3:52525405G>T ENST00000345716.4 + 20 3914 c.3780G>T c.(3778-3780)cgG>cgT p.R1260R NISCH_ENST00000479054.1_Silent_p.R1260R NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1260 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GCTTGACGCGGGACAGCTACC 0.647000 6 27 3.59834e-05 3.64568e-05 1 1 0 SIRT7 51547 broad.mit.edu 37 17 79872257 79872257 + Silent SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr17:79872257C>T ENST00000328666.6 - 7 791 c.729G>A c.(727-729)ggG>ggA p.G243G NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 243 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding p.G243G(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GCCCCAACGTCCCCCTCTCCC 0.637000 17 22 0 0 1 0 0 HIST3H2BB 128312 broad.mit.edu 37 1 228646048 228646048 + Missense_Mutation SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:228646048G>A ENST00000369160.2 + 1 241 c.218G>A c.(217-219)cGc>cAc p.R73H NM_175055.2 NP_778225.1 Q8N257 H2B3B_HUMAN histone cluster 3, H2bb 73 nucleosome assembly nucleosome|nucleus DNA binding p.R73L(1) skin(1) 1 Prostate(94;0.183) ATCTTCGAGCGCATCGCCAGC 0.622000 4 133 0 0 1 0 0 CDC123 8872 broad.mit.edu 37 10 12238313 12238313 + Missense_Mutation SNP C C G TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr10:12238313C>G ENST00000281141.4 + 1 349 c.69C>G c.(67-69)atC>atG p.I23M CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Missense_Mutation_p.I23M NM_006023.2 NP_006014.2 O75794 CD123_HUMAN cell division cycle 123 23 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 GCGTTACCATCAAGAGGTGAG 0.567000 76 683 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47608994 47608994 + Silent SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:47608994C>T ENST00000371891.3 + 5 595 c.564C>T c.(562-564)caC>caT p.H188H CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.H188H|CYP4A22_ENST00000294337.3_Silent_p.H188H NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 188 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTTTCAGCACGTCTCCTTGA 0.567000 9 38 0 0 1 0 0 FAM76B 143684 broad.mit.edu 37 11 95512069 95512069 + Missense_Mutation SNP T T C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr11:95512069T>C ENST00000358780.5 - 8 1057 c.745A>G c.(745-747)Ata>Gta p.I249V FAM76B_ENST00000536839.1_Missense_Mutation_p.I248V NM_144664.4 NP_653265.3 Q5HYJ3 FA76B_HUMAN family with sequence similarity 76, member B 249 breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AATTGACTTATAAGGACAAAA 0.333000 23 43 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248813322 248813322 + Silent SNP G G C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:248813322G>C ENST00000344889.3 - 1 863 c.864C>G c.(862-864)ctC>ctG p.L288L NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGCTGTAAATGAGTGGATTGA 0.483000 10 19 0 0 1 0 0 DNAJC12 56521 broad.mit.edu 37 10 69571296 69571296 + Missense_Mutation SNP C C G TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr10:69571296C>G ENST00000225171.2 - 3 435 c.283G>C c.(283-285)Gac>Cac p.D95H DNAJC12_ENST00000339758.7_Missense_Mutation_p.D95H|DNAJC12_ENST00000483798.2_Missense_Mutation_p.D125H NM_021800.2 NP_068572.1 Q9UKB3 DJC12_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 12 95 protein folding heat shock protein binding|unfolded protein binding breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 TTCACTGAGTCATTCAAAGCT 0.502000 20 57 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134080162 134080162 + Splice_Site SNP A A C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr11:134080162A>C ENST00000534548.2 - 4 632 c.e4+1 NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CTTACTTCTTACCTCAATATC 0.383000 31 66 0 0 1 0 0 FAM114A1 92689 broad.mit.edu 37 4 38893436 38893436 + Missense_Mutation SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr4:38893436G>A ENST00000358869.2 + 4 597 c.421G>A c.(421-423)Gca>Aca p.A141T FAM114A1_ENST00000515037.1_5'UTR NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 141 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 GCTGTCGTCAGCATCTGCCAC 0.473000 21 30 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7522052 7522052 + Missense_Mutation SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr12:7522052G>A ENST00000313599.3 - 15 3997 c.3940C>T c.(3940-3942)Cgg>Tgg p.R1314W CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314W|CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324W Q9NR16 C163B_HUMAN CD163 molecule-like 1 1314 SRCR 12. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CCTTTGCACCGCATGTCATCC 0.572000 4 120 0 0 1 0 0 IPP 3652 broad.mit.edu 37 1 46179946 46179946 + Missense_Mutation SNP T T C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:46179946T>C ENST00000396478.3 - 8 1604 c.1502A>G c.(1501-1503)cAt>cGt p.H501R NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 501 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TTCTACAGTATGAAGAGCATC 0.408000 32 35 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36116679 36116679 + Silent SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr22:36116679G>A ENST00000249044.2 + 2 120 c.120G>A c.(118-120)ggG>ggA p.G40G NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 40 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 AGGTCTGGGGGAAGTCCccag 0.512000 181 191 0 0 1 0 0 FABP4 2167 broad.mit.edu 37 8 82392665 82392665 + Missense_Mutation SNP A A G TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr8:82392665A>G ENST00000256104.4 - 2 337 c.242T>C c.(241-243)gTc>gCc p.V81A RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR NM_001442.2 NP_001433.1 P15090 FABP4_HUMAN fatty acid binding protein 4, adipocyte 81 triglyceride catabolic process cytoplasm|nucleus|soluble fraction fatty acid binding|protein binding|transporter activity breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1) 6 Epithelial(68;0.213) TCTCACCTTGACTTTCCTGTC 0.378000 20 85 0 0 1 0 0 ZNF124 7678 broad.mit.edu 37 1 247323000 247323000 + Missense_Mutation SNP A A G TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:247323000A>G ENST00000472531.1 - 2 273 c.146T>C c.(145-147)cTg>cCg p.L49P ZNF124_ENST00000340684.6_Missense_Mutation_p.L49P|ZNF124_ENST00000491356.1_Missense_Mutation_p.L49P|ZNF124_ENST00000543802.2_Missense_Mutation_p.L49P|ZNF124_ENST00000491848.1_5'UTR NM_001243740.1 NP_001230669.1 Q15973 ZN124_HUMAN zinc finger protein 124 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2) 14 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) TATGGAAGCCAGATTCCTGAA 0.413000 17 61 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155180800 155180800 + Missense_Mutation SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr4:155180800G>A ENST00000357232.3 - 20 5320 c.5321C>T c.(5320-5322)gCa>gTa p.A1774V NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1774 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TATCAAGACTGCTACTTTGCA 0.393000 21 67 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 6 120 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 5 184 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102057259 102057259 + Missense_Mutation SNP T T C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr10:102057259T>C ENST00000318222.3 - 5 1218 c.836A>G c.(835-837)cAg>cGg p.Q279R PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Q279R NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 279 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TGCACTACCCTGTCGGGATCC 0.597000 11 1149 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61483616 61483616 + Silent SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr17:61483616C>T ENST00000424789.2 + 19 3349 c.3345C>T c.(3343-3345)acC>acT p.T1115T AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Silent_p.T1115T|RP11-269G24.3_ENST00000583552.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1115 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 ATCTAGGAACCGTGGACTTTC 0.502000 OREG0024637 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 64 0 0 1 0 0 AQP2 359 broad.mit.edu 37 12 50349300 50349300 + Missense_Mutation SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr12:50349300C>T ENST00000199280.3 + 4 810 c.725C>T c.(724-726)cCg>cTg p.P242L RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA NM_000486.5 NP_000477.1 P41181 AQP2_HUMAN aquaporin 2 (collecting duct) 242 cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 GGCCTGGAGCCGGACACCGAT 0.692000 8 13 0 0 1 0 0 TDP1 55775 broad.mit.edu 37 14 90509453 90509453 + Missense_Mutation SNP C C T rs113382706 TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr14:90509453C>T ENST00000335725.4 + 17 2043 c.1793C>T c.(1792-1794)cCg>cTg p.P598L TDP1_ENST00000555880.1_Missense_Mutation_p.R562W|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.P598L|TDP1_ENST00000357382.3_Missense_Mutation_p.P359L NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 598 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) GTCAAAGCACCGGATACGCAT 0.423000 Repair of DNA-protein crosslinks 10 34 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1041546 1041546 + Missense_Mutation SNP T T C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr19:1041546T>C ENST00000263094.6 + 3 335 c.104T>C c.(103-105)cTc>cCc p.L35P ABCA7_ENST00000433129.1_Missense_Mutation_p.L35P NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 35 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCTCTTCCTCTTCTTCATC 0.647000 13 59 0 0 1 0 0 ZNF146 7705 broad.mit.edu 37 19 36727929 36727929 + Missense_Mutation SNP G G A TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr19:36727929G>A ENST00000456324.1 + 3 2036 c.587G>A c.(586-588)cGa>cAa p.R196Q ZNF146_ENST00000443387.2_Missense_Mutation_p.R196Q|ZNF565_ENST00000355114.5_Intron NM_001099638.1|NM_001099639.1 NP_001093108.1|NP_001093109.1 Q15072 OZF_HUMAN zinc finger protein 146 196 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Esophageal squamous(110;0.162) TTCTCTCAGCGAACATCACTT 0.418000 4 99 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26482183 26482183 + Silent SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr10:26482183C>T ENST00000265944.5 + 32 4654 c.4488C>T c.(4486-4488)ccC>ccT p.P1496P MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1496 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAAGACGACCCCGGAAACCCA 0.378000 13 32 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 155004069 155004069 + Silent SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:155004069C>T ENST00000368424.3 - 4 778 c.720G>A c.(718-720)gcG>gcA p.A240A DCST2_ENST00000295536.5_Silent_p.A240A NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 240 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTCCACAGAGCGCCAGTTTGA 0.592000 11 51 0 0 1 0 0 PRCC 5546 broad.mit.edu 37 1 156761535 156761536 + Frame_Shift_Ins INS - - C TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr1:156761535_156761536insC ENST00000271526.4 + 4 1402_1403 c.1130_1131insC c.(1129-1131)gccfs p.A377fs PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 377 cell cycle|mitotic cell cycle checkpoint nucleus protein binding p.Q380fs*12(1) PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCGGCCCTGGTCCCCCCCCAGG 0.530 T TFE3 papillary renal 8 364 --- --- --- --- DNM1 1759 broad.mit.edu 37 9 130982298 130982298 + Frame_Shift_Del DEL G G - TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr9:130982298delG ENST00000341179.7 + 5 713 c.621delG c.(619-621)ctfs p.L207fs DNM1_ENST00000486160.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000475805.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000393594.3_Frame_Shift_Del_p.L207fs|DNM1_ENST00000372923.3_Frame_Shift_Del_p.L207fs NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 207 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 TCACCAAGCTGGACCTGATGG 0.632 2 4 --- --- --- --- UPF2 26019 broad.mit.edu 37 10 11990430 11990432 + In_Frame_Del DEL CTT CTT - TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr10:11990430_11990432delCTT ENST00000356352.2 - 15 3583_3585 c.3110_3112delAAG c.(3109-3114)ggt>g p.EG1037del UPF2_ENST00000397053.2_In_Frame_Del_p.EG1037del|UPF2_ENST00000357604.5_In_Frame_Del_p.EG1037del Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1037 Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) tcagccccaccttcttcttcttc 0.374 7 477 --- --- --- --- DUSP5 1847 broad.mit.edu 37 10 112262511 112262512 + Frame_Shift_Del DEL GA GA - TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr10:112262511_112262512delGA ENST00000369583.3 + 2 696_697 c.412_413delGA c.(412-414)gfs p.E138fs DUSP5_ENST00000468749.1_3'UTR NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 138 Rhodanese. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) GGAATATCCTGAGTGTTGCGTG 0.431 55 37 --- --- --- --- ATM 472 broad.mit.edu 37 11 108158380 108158382 + In_Frame_Del DEL GAC GAC - TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr11:108158380_108158382delGAC ENST00000278616.4 + 27 4432_4434 c.4047_4049delGAC c.(4045-4050)atg>at p.MT1349del ATM_ENST00000452508.2_In_Frame_Del_p.MT1349del NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1349 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AGTTATTGATGACGTTACATGAG 0.345 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 71 7 --- --- --- --- CCT2 10576 broad.mit.edu 37 12 69979304 69979304 + Translation_Start_Site DEL G G - TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr12:69979304delG ENST00000299300.6 + 0 191 CCT2_ENST00000544368.2_Start_Codon_Del NM_006431.2 NP_006422.1 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 (beta) 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TCGGAACCATGGTGAGCCTGA 0.622 OREG0021987 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr19:38899502_38899504delAAG ENST00000252530.5 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)del p.K349del FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 8 50 --- --- --- --- ZNF446 55663 broad.mit.edu 37 19 58991631 58991631 + Frame_Shift_Del DEL T T - TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4929553-67d7-45f4-ab30-e8218b0fe697 7a11066b-492d-4df1-8136-7bd2739786ba g.chr19:58991631delT ENST00000594369.1 + 7 1272 c.891delT c.(889-891)gcfs p.A298fs ZNF446_ENST00000596341.1_Intron|ZNF446_ENST00000335841.4_Frame_Shift_Del_p.L269fs NM_017908.2 NP_060378.1 Q9NWS9 ZN446_HUMAN zinc finger protein 446 298 Pro-rich. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TGTCTGGGGCTGCCACTCCTG 0.721 3 5 --- --- --- ---